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 AC016995.3 0 broad.mit.edu 37 2 38709067 38709067 + RNA SNP A A G rs113173138 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:38709067A>G ENST00000417039.1 - 0 696 ATGATTATCCAAAATGTTTCA 0.537000 22 143 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15572024 15572024 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:15572024G>T ENST00000424120.1 + 28 3753 c.3499G>T c.(3499-3501)Gac>Tac p.D1167Y CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1118Y Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 1167 C2. cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 CCTTTAGGATGACCGTGAAAG 0.408000 10 42 1.58986e-06 1.62573e-06 1 1 0 ZNF615 284370 broad.mit.edu 37 19 52497760 52497760 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:52497760T>C ENST00000602063.1 - 6 918 c.569A>G c.(568-570)cAg>cGg p.Q190R ZNF615_ENST00000598071.1_Missense_Mutation_p.Q201R|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q195R|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q190R|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q201R Q8N8J6 ZN615_HUMAN zinc finger protein 615 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CTTAATGAACTGGGACTTATT 0.363000 119 854 0 0 1 0 0 ZNF514 84874 broad.mit.edu 37 2 95815575 95815575 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:95815575G>T ENST00000295208.2 - 5 1117 c.655C>A c.(655-657)Ctt>Att p.L219I ZNF514_ENST00000411425.1_Missense_Mutation_p.L219I NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TGGCGCCTAAGTTCTGACTGG 0.443000 26 783 4.06085e-26 4.4182e-26 1 1 0 TRAV6 0 broad.mit.edu 37 14 22236771 22236771 + RNA SNP C C T rs11623408 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:22236771C>T ENST00000390428.3 + 0 43 GTCTACATTTCAGGCCACATT 0.468000 27 906 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21861651 21861651 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:21861651C>T ENST00000399982.2 - 31 6367 c.6303G>A c.(6301-6303)gaG>gaA p.E2101E CHD8_ENST00000430710.3_Silent_p.E1822E|CHD8_ENST00000557364.1_Silent_p.E2101E NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2101 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TCTCTTCCTTCTCATCCTCAC 0.498000 7 37 0 0 1 0 0 C1orf162 128346 broad.mit.edu 37 1 112020662 112020662 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:112020662G>A ENST00000343534.5 + 6 635 c.385G>A c.(385-387)Gaa>Aaa p.E129K C1orf162_ENST00000369718.3_Missense_Mutation_p.E104K|C1orf162_ENST00000464591.1_3'UTR NM_174896.2 NP_777556.1 Q8NEQ5 CA162_HUMAN chromosome 1 open reading frame 162 129 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134) CAAACTCTCAGAAGAAAAGAG 0.433000 67 339 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11650939 11650939 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:11650939G>A ENST00000262442.3 + 32 6534 c.6466G>A c.(6466-6468)Ggc>Agc p.G2156S DNAH9_ENST00000454412.2_Missense_Mutation_p.G2156S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2156 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGCTGGTACCGGCAAGTCACA 0.572000 43 334 0 0 1 0 0 SPATA2L 124044 broad.mit.edu 37 16 89764126 89764126 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr16:89764126C>T ENST00000289805.5 - 3 959 c.891G>A c.(889-891)gaG>gaA p.E297E SPATA2L_ENST00000335360.7_Intron NM_152339.3 NP_689552.2 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 297 breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1) 6 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) CCAGCCCCTCCTCCAAGGCCC 0.682000 15 104 0 0 1 0 0 LSM14A 26065 broad.mit.edu 37 19 34685499 34685499 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:34685499C>T ENST00000544216.3 + 2 315 c.238C>T c.(238-240)Cca>Tca p.P80S LSM14A_ENST00000540746.2_Missense_Mutation_p.P80S|LSM14A_ENST00000433627.5_Missense_Mutation_p.P80S NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 80 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGTTTGTGAGCCACCAAAACC 0.438000 90 611 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 1719 1719 + RNA SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:1719G>A ENST00000387347.2 + 0 49 NR_039705.1 CAGACAACCTTAGCCAAACCA 0.418000 18 62 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184079221 184079221 + Missense_Mutation SNP T T G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:184079221T>G ENST00000265593.4 - 1 218 c.47A>C c.(46-48)cAg>cCg p.Q16P CLCN2_ENST00000434054.2_Missense_Mutation_p.Q16P|CLCN2_ENST00000344937.7_Missense_Mutation_p.Q16P|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q16P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 16 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) CTGCTCGTACTGCAGCGCCCG 0.706000 44 298 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 8697 8697 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:8697G>A ENST00000361899.2 + 1 171 c.171G>A c.(169-171)atG>atA p.M57I mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 TCAAAACAAATGATAGCCATA 0.403000 24 83 0 0 1 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9540 9540 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:9540T>C ENST00000362079.2 + 1 334 c.334T>C c.(334-336)Tta>Cta p.112_112insL mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 CTACCCCCCAACTAGGAGGGC 0.493000 6 80 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33468069 33468069 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:33468069C>T ENST00000379471.2 - 11 1470 c.1383G>A c.(1381-1383)atG>atA p.M461I NOL6_ENST00000455041.2_Missense_Mutation_p.M409I|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 461 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GTTTGGGAGTCATCAACAGCA 0.567000 29 590 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40499348 40499348 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:40499348G>A ENST00000280871.4 - 1 313 c.263C>T c.(262-264)tCc>tTc p.S88F SLC2A13_ENST00000380858.1_Missense_Mutation_p.S88F NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 88 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) GCCCAGCGCGGAGAAGACGGC 0.721000 HNSCC(50;0.14) 6 34 0 0 1 0 0 CD58 965 broad.mit.edu 37 1 117087113 117087113 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:117087113T>C ENST00000457047.2 - 2 237 c.184A>G c.(184-186)Aaa>Gaa p.K62E CD58_ENST00000369489.5_Missense_Mutation_p.K62E|CD58_ENST00000369487.3_Missense_Mutation_p.K62E NM_001144822.1 NP_001138294.1 P19256 LFA3_HUMAN CD58 molecule 62 blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) TCTGCAACTTTATCCTTTTGT 0.348000 38 168 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3271027 3271027 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:3271027T>C ENST00000382004.3 - 11 1489 c.1178A>G c.(1177-1179)gAt>gGt p.D393G RFX3_ENST00000358730.2_Missense_Mutation_p.D393G|RFX3_ENST00000302303.1_Missense_Mutation_p.D393G NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 393 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) GGTAGTGCCATCAGTTGGAGT 0.368000 48 362 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 9080 9080 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:9080A>G ENST00000361899.2 + 1 554 c.554A>G c.(553-555)aAc>aGc p.N185S mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 ATCAACCATTAACCTTCCCTC 0.453000 4 60 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15043 15043 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:15043G>A ENST00000361789.2 + 1 297 c.297G>A c.(295-297)ggG>ggA p.99_99insG mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 CTACACATCGGGCGAGGCCTA 0.468000 4 38 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113105776 113105776 + Missense_Mutation SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:113105776C>A ENST00000316851.7 + 13 1685 c.1685C>A c.(1684-1686)aCc>aAc p.T562N NCAM1_ENST00000533760.1_Missense_Mutation_p.T444N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T571N NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 572 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GGCATCGTCACCATCGTGGGC 0.547000 10 35 0.000442599 0.000447535 1 1 0 MYO3B 140469 broad.mit.edu 37 2 171323216 171323216 + Silent SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:171323216G>C ENST00000334231.6 + 25 3036 c.3036G>C c.(3034-3036)gtG>gtC p.V1012V MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Silent_p.V1003V|MYO3B_ENST00000408978.4_Silent_p.V1003V Q8WXR4 MYO3B_HUMAN myosin IIIB 1003 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AAGAATTTGTGAAAAGGTCAG 0.532000 59 385 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35873637 35873637 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:35873637C>G ENST00000216797.5 - 1 315 c.214G>C c.(214-216)Gag>Cag p.E72Q NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E72Q NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 72 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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 cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) TCCCCGTCCTCGGTGAGCTGC 0.741000 11 71 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35095294 35095294 + Missense_Mutation SNP A A T rs148704151 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:35095294A>T ENST00000378617.3 - 2 663 c.269T>A c.(268-270)gTg>gAg p.V90E PIGO_ENST00000298004.5_Missense_Mutation_p.V90E|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.V90E|PIGO_ENST00000341666.3_Missense_Mutation_p.V90E NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 90 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTCTCTAGGCACGTGTGAATG 0.577000 48 717 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2877458 2877458 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:2877458G>A ENST00000586426.1 + 4 586 c.499G>A c.(499-501)Gct>Act p.A167T ZNF556_ENST00000307635.2_Missense_Mutation_p.A168T Q9HAH1 ZN556_HUMAN zinc finger protein 556 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) GCACAAAAGAGCTCACTCTGG 0.438000 87 440 0 0 1 0 0 PTDSS1 9791 broad.mit.edu 37 8 97311970 97311970 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:97311970C>G ENST00000517309.1 + 6 975 c.649C>G c.(649-651)Caa>Gaa p.Q217E PTDSS1_ENST00000522072.1_Missense_Mutation_p.Q14E|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Q71E NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 217 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CTGGTGGGATCAAGTCATTCT 0.493000 64 841 0 0 1 0 0 TAMM41 132001 broad.mit.edu 37 3 11851103 11851103 + Silent SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:11851103G>C ENST00000444133.2 - 6 904 c.762C>G c.(760-762)acC>acG p.T254T TAMM41_ENST00000273037.5_Silent_p.T254T|TAMM41_ENST00000455809.1_Silent_p.T254T Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 254 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane GTTGCTGTAAGGTTTTGGGCA 0.418000 39 457 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 1736 1736 + RNA SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:1736A>G ENST00000387347.2 + 0 66 NR_039705.1 ACCATTTACCCAAATAAAGTA 0.403000 19 68 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100155279 100155279 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:100155279C>G ENST00000395996.1 + 13 1840 c.1729C>G c.(1729-1731)Ctt>Gtt p.L577V VPS13B_ENST00000357162.2_Missense_Mutation_p.L577V|VPS13B_ENST00000355155.1_Missense_Mutation_p.L577V|VPS13B_ENST00000358544.2_Missense_Mutation_p.L577V Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 577 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CACCAAAAGCCTTGTTATAGG 0.373000 143 335 0 0 1 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9656 9656 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:9656T>C ENST00000362079.2 + 1 450 c.450T>C c.(448-450)agT>agC p.150_150insS mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 GCTCACCATAGTCTAATAGAA 0.443000 7 105 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273681 125273681 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:125273681A>G ENST00000335302.5 + 1 601 c.601A>G c.(601-603)Aca>Gca p.T201A NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 GGTCATGTTCACAGTAGGGGT 0.517000 74 330 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132662705 132662705 + Splice_Site SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:132662705C>T ENST00000420781.1 - 14 1741 c.1523_splice c.e14+1 p.S508_splice FNBP1_ENST00000443566.2_Splice_Site_p.S145_splice|FNBP1_ENST00000446176.2_Splice_Site_p.S517_splice|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Splice_Site_p.S488_splice Q96RU3 FNBP1_HUMAN formin binding protein 1 517 Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) GATACTGTACCTCTCACGGTC 0.572000 T MLL AML 9 73 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162639 33162639 + RNA SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:33162639T>C ENST00000510327.1 - 0 346 TCCCACTACGTGCTGCCCCTG 0.463000 9 157 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42012195 42012195 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr7:42012195G>C ENST00000395925.3 - 13 1928 c.1844C>G c.(1843-1845)aCt>aGt p.T615S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 615 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GTAACGCTTAGTGCAGCCTGG 0.507000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 40 226 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6293 6293 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:6293T>C ENST00000361624.2 + 1 390 c.390T>C c.(388-390)ccT>ccC p.130_130insP mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 ACAGTCTACCCTCCCTTAGCA 0.517000 23 118 0 0 1 0 0 KIAA1467 57613 broad.mit.edu 37 12 13219646 13219646 + Missense_Mutation SNP G G A rs145573782 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:13219646G>A ENST00000197268.8 + 6 1045 c.925G>A c.(925-927)Gtt>Att p.V309I NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 309 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GTACAACATCGTTGGAGTTGG 0.507000 18 399 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11251 11251 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:11251A>G ENST00000361381.2 + 1 492 c.492A>G c.(490-492)ctA>ctG p.164_164insL mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CTCATCGCACTAATTTACACT 0.473000 17 70 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48605373 48605373 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:48605373C>G ENST00000537810.1 - 12 1471 c.867G>C c.(865-867)ttG>ttC p.L289F FRYL_ENST00000503238.1_Missense_Mutation_p.L289F|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.L289F|FRYL_ENST00000358350.4_Missense_Mutation_p.L289F O94915 FRYL_HUMAN FRY-like 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CAAAATTTTTCAAACAGGGAA 0.289000 46 318 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26108128 26108128 + Silent SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:26108128G>T ENST00000313735.6 - 8 1031 c.798C>A c.(796-798)cgC>cgA p.R266R NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 266 R -> H (in Ref. 8; AAC19133). arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AGCCAGCATAGCGGATGAGCT 0.612000 13 406 1.05317e-09 1.08508e-09 1 1 0 KRT39 390792 broad.mit.edu 37 17 39114945 39114945 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:39114945A>G ENST00000355612.2 - 7 1419 c.1384T>C c.(1384-1386)Tgc>Cgc p.C462R AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 462 Tail. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) GTGATGGTGCAAATTTTAACC 0.507000 16 513 0 0 1 0 0 HBE1 3046 broad.mit.edu 37 11 5289744 5289744 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:5289744C>G ENST00000380237.1 - 5 743 c.399G>C c.(397-399)aaG>aaC p.K133N HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.K133N|HBG2_ENST00000380252.1_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 133 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGACACCAGCTTCTGCCAGG 0.532000 109 531 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48932560 48932560 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:48932560C>G ENST00000356463.3 - 12 1426 c.988G>C c.(988-990)Gat>Cat p.D330H WDR45_ENST00000396681.4_Missense_Mutation_p.D315H|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.D330H|WDR45_ENST00000376372.3_Missense_Mutation_p.D329H|WDR45_ENST00000470270.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.D340H|WDR45_ENST00000485908.1_Missense_Mutation_p.D294H|WDR45_ENST00000473974.1_Missense_Mutation_p.R246T|WDR45_ENST00000553851.1_Intron NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 329 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 AAGGTCCCATCTACGCAGATG 0.537000 18 278 0 0 1 0 0 EOMES 8320 broad.mit.edu 37 3 27759190 27759190 + Nonsense_Mutation SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:27759190C>A ENST00000295743.4 - 6 1635 c.1432G>T c.(1432-1434)Gag>Tag p.E478* EOMES_ENST00000537516.1_Nonsense_Mutation_p.E202*|EOMES_ENST00000449599.1_Nonsense_Mutation_p.E497* O95936 EOMES_HUMAN eomesodermin 478 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 ACAAAGGGCTCCGGGAAGAAG 0.527000 40 435 1.96642e-18 2.09751e-18 1 1 0 CACNA1C 775 broad.mit.edu 37 12 2760901 2760901 + Silent SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:2760901G>C ENST00000399655.1 + 32 4306 c.4041G>C c.(4039-4041)cgG>cgC p.R1347R CACNA1C_ENST00000399601.1_Silent_p.R1347R|CACNA1C_ENST00000399603.1_Silent_p.R1347R|CACNA1C_ENST00000399637.1_Silent_p.R1347R|CACNA1C_ENST00000327702.7_Silent_p.R1347R|CACNA1C_ENST00000335762.5_Silent_p.R1372R|CACNA1C_ENST00000399638.1_Silent_p.R1375R|CACNA1C_ENST00000399621.1_Silent_p.R1347R|CACNA1C_ENST00000399591.1_Silent_p.R1336R|CACNA1C_ENST00000406454.3_Silent_p.R1347R|CACNA1C_ENST00000399649.1_Silent_p.R1334R|CACNA1C_ENST00000399617.1_Silent_p.R1347R|CACNA1C_ENST00000399629.1_Silent_p.R1364R|CACNA1C_ENST00000399644.1_Silent_p.R1347R|CACNA1C_ENST00000347598.4_Silent_p.R1395R|CACNA1C_ENST00000399595.1_Silent_p.R1336R|CACNA1C_ENST00000399606.1_Silent_p.R1367R|CACNA1C_ENST00000399641.1_Silent_p.R1347R|CACNA1C_ENST00000399634.1_Silent_p.R1347R|CACNA1C_ENST00000399597.1_Silent_p.R1347R|CACNA1C_ENST00000344100.3_Silent_p.R1369R|CACNA1C_ENST00000402845.3_Silent_p.R1347R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1395 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGGGCATCCGGACGCTGCTGT 0.637000 39 205 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17311139 17311139 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:17311139G>C ENST00000595618.1 + 25 4428 c.4276G>C c.(4276-4278)Gat>Cat p.D1426H MYO9B_ENST00000594824.1_Missense_Mutation_p.D1426H|MYO9B_ENST00000397274.2_Missense_Mutation_p.D1426H NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1426 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 TAAAACCAAGGATAAAAAATA 0.507000 9 105 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6249 6249 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:6249G>A ENST00000361624.2 + 1 346 c.346G>A c.(346-348)Gct>Act p.116_116insT mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TGCTCGCATCTGCTATAGTGG 0.532000 7 109 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76507011 76507011 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:76507011G>A ENST00000264917.5 + 1 306 c.261G>A c.(259-261)gcG>gcA p.A87A PDE8B_ENST00000333194.4_Silent_p.A87A|PDE8B_ENST00000340978.3_Silent_p.A87A|PDE8B_ENST00000346042.3_Silent_p.A87A|PDE8B_ENST00000342343.4_Silent_p.A87A NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 87 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCCCCGCCGCGACCACCAGCA 0.751000 7 10 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 10873 10873 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:10873T>C ENST00000361381.2 + 1 114 c.114T>C c.(112-114)ccT>ccC p.38_38insP mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 AGCATCATCCCCCTACTATTT 0.403000 10 62 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27857472 27857472 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:27857472C>T ENST00000261716.3 + 18 2715 c.2196C>T c.(2194-2196)atC>atT p.I732I TAOK1_ENST00000536202.1_Silent_p.I584I NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 732 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) CCTGCAAAATCCAAACCAGAC 0.393000 27 198 0 0 1 0 0 GLOD5 392465 broad.mit.edu 37 X 48624245 48624245 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:48624245G>T ENST00000303227.6 + 2 110 c.69G>T c.(67-69)tgG>tgT p.W23C GLOD5_ENST00000470676.1_3'UTR NM_001080489.2 NP_001073958.2 glyoxalase domain containing 5 endometrium(1)|lung(2) 3 TTTAGTCATGGAGGGACAGCA 0.473000 5 65 1 1 1 1 0 MT-ND6 4541 broad.mit.edu 37 MT 14233 14233 + Silent SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:14233A>G ENST00000361681.2 - 1 440 c.441T>C c.(439-441)gaT>gaC p.D147D mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 CAACGCCCATAATCATACAAA 0.408000 7 35 0 0 1 0 0 TMOD1 7111 broad.mit.edu 37 9 100328234 100328234 + Silent SNP G G A rs142987399 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:100328234G>A ENST00000395211.2 + 7 859 c.723G>A c.(721-723)gcG>gcA p.A241A TMOD1_ENST00000375175.1_Silent_p.A114A|TMOD1_ENST00000259365.3_Silent_p.A241A NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 241 muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) ACCCCGTGGCGTATGTATGTA 0.493000 59 300 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180056837 180056837 + Splice_Site SNP T T A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:180056837T>A ENST00000261937.6 - 6 755 c.e6-2 FLT4_ENST00000502649.1_Splice_Site|FLT4_ENST00000424276.2_Splice_Site|FLT4_ENST00000393347.3_Splice_Site NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCTCGTTGCCTGTTGACACGC 0.607000 70 93 0 0 1 0 0 TRMT61A 115708 broad.mit.edu 37 14 103996579 103996579 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:103996579C>T ENST00000389749.4 + 2 371 c.264C>T c.(262-264)taC>taT p.Y88Y NM_152307.2 NP_689520.2 Q96FX7 TRM61_HUMAN tRNA methyltransferase 61 homolog A (S. cerevisiae) 88 nucleus protein binding|tRNA (adenine-N1-)-methyltransferase activity skin(1) 1 AGATCCTCTACTCCACAGACA 0.622000 91 444 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118375783 118375783 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:118375783C>T ENST00000534358.1 + 27 9199 c.9176C>T c.(9175-9177)cCg>cTg p.P3059L KMT2A_ENST00000389506.5_Missense_Mutation_p.P3056L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3018L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGTCCTGGCCCGTCTCAGATT 0.507000 30 753 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47614458 47614458 + Silent SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr21:47614458G>T ENST00000397728.3 - 20 2013 c.1935C>A c.(1933-1935)gcC>gcA p.A645A LSS_ENST00000522411.1_Silent_p.A634A|LSS_ENST00000356396.4_Silent_p.A645A|LSS_ENST00000457828.2_Silent_p.A565A NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 645 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) TCTGGGACTGGGCACTCTGCA 0.632000 41 147 4.92203e-23 5.31266e-23 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 12705 12705 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:12705C>T ENST00000361567.2 + 1 369 c.369C>T c.(367-369)atC>atT p.I123I P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 123 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TATCTACTCATTTTCCTAATT 0.373000 5 33 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115303595 115303595 + Missense_Mutation SNP G G T rs121917810 byFrequency TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:115303595G>T ENST00000371906.4 + 3 252 c.62G>T c.(61-63)gGg>gTg p.G21V NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 21 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 CTTCACTTCGGGCTTGTGAAC 0.413000 34 228 2.42023e-17 2.5715e-17 1 1 0 DMAP1 55929 broad.mit.edu 37 1 44680376 44680376 + Splice_Site SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:44680376G>C ENST00000372289.2 + 3 462 c.197_splice c.e3-1 p.D67_splice DMAP1_ENST00000315913.5_Splice_Site_p.D67_splice|DMAP1_ENST00000361745.6_Splice_Site_p.D67_splice NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 67 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) CCCTGCCAGGGATGCACCCCC 0.537000 58 390 0 0 1 0 0 TAPT1-AS1 0 broad.mit.edu 37 4 16258050 16258050 + RNA SNP C C T rs203448 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:16258050C>T ENST00000570786.1 + 0 405 TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA NR_027696.1 TAAACCTGCCCGTGACCTTGT 0.542000 13 216 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5427483 5427483 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr7:5427483G>T ENST00000399537.4 - 5 2320 c.1972C>A c.(1972-1974)Ccc>Acc p.P658T TNRC18_ENST00000430969.1_Missense_Mutation_p.P658T O15417 TNC18_HUMAN trinucleotide repeat containing 18 658 DNA binding p.P658T(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCGCTCTCGGGCCTCTCGGGG 0.736000 13 95 1.61879e-10 1.68058e-10 1 1 0 KLHL11 55175 broad.mit.edu 37 17 40010103 40010103 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:40010103G>A ENST00000319121.3 - 2 2076 c.2016C>T c.(2014-2016)taC>taT p.Y672Y NM_018143.1 NP_060613.1 Q9NVR0 KLH11_HUMAN kelch-like family member 11 672 extracellular region NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 Breast(137;0.00156) GAGGCATAGGGTATCTCTGTG 0.527000 97 574 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109524464 109524464 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:109524464G>A ENST00000409271.1 - 10 1354 c.911C>T c.(910-912)gCc>gTc p.A304V EDAR_ENST00000376651.1_Missense_Mutation_p.A304V|EDAR_ENST00000258443.2_Missense_Mutation_p.A272V Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 272 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CTCGGATGAGGCATCGTTCTC 0.607000 25 173 0 0 1 0 0 RNF38 152006 broad.mit.edu 37 9 36390574 36390574 + Translation_Start_Site SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:36390574G>C ENST00000357058.3 - 0 409 RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_De_novo_Start_OutOfFrame|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000259605.6_Missense_Mutation_p.P18A|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000350199.4_Intron NM_194328.2 NP_919309.1 Q9H0F5 RNF38_HUMAN ring finger protein 38 zinc ion binding breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1) 11 STAD - Stomach adenocarcinoma(86;0.228) ACCTTGTTAGGATGGCCAGGT 0.488000 74 488 0 0 1 0 0 FOXI3 344167 broad.mit.edu 37 2 88751603 88751603 + RNA SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:88751603G>A ENST00000398142.3 - 0 528 A8MTJ6 FOXI3_HUMAN forkhead box I3 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1) 2 GATGAGCGCCGAATACGAGTA 0.682000 13 33 0 0 1 0 0 CCDC6 8030 broad.mit.edu 37 10 61552865 61552865 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr10:61552865G>A ENST00000263102.6 - 9 1466 c.1235C>T c.(1234-1236)cCt>cTt p.P412L NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 412 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) CCGTGGTGAAGGCCTCTGCAG 0.562000 T RET NSCLC 21 134 0 0 1 0 0 ADPGK 83440 broad.mit.edu 37 15 73045100 73045100 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr15:73045100A>G ENST00000311669.8 - 7 1166 c.1073T>C c.(1072-1074)cTc>cCc p.L358P ADPGK_ENST00000456471.2_Missense_Mutation_p.L84P NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 359 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 GATCCAGAAGAGGATGTCACT 0.517000 84 390 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3185639 3185639 + Missense_Mutation SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr10:3185639C>A ENST00000380989.2 - 23 2628 c.2590G>T c.(2590-2592)Gtg>Ttg p.V864L PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.V421L|PITRM1_ENST00000224949.4_Missense_Mutation_p.V863L|PITRM1_ENST00000451104.2_Missense_Mutation_p.V765L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 765 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 ACGTAATTCACCGGGAAGGGC 0.592000 18 272 0.000566183 0.000570377 1 1 0 MT-CO1 4512 broad.mit.edu 37 MT 6776 6776 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:6776T>C ENST00000361624.2 + 1 873 c.873T>C c.(871-873)caT>caC p.291_291insH mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TGAGCACACCATATATTTACA 0.423000 8 60 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15452 15452 + Missense_Mutation SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:15452C>A ENST00000361789.2 + 1 706 c.706C>A c.(706-708)Ctt>Att p.236_236insI mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TACTTCTCTTCCTTCTCTCCT 0.478000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 9 50 5.68852e-11 5.92827e-11 1 1 0 SPG7 6687 broad.mit.edu 37 16 89611106 89611106 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr16:89611106G>A ENST00000268704.2 + 10 1390 c.1375G>A c.(1375-1377)Gac>Aac p.D459N NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 459 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GAACCGAGCTGACATTTTGGA 0.602000 68 428 0 0 1 0 0 PRR22 163154 broad.mit.edu 37 19 5783339 5783339 + Missense_Mutation SNP A A T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:5783339A>T ENST00000419421.2 - 3 1023 c.919T>A c.(919-921)Tgc>Agc p.C307S NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 305 endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 GGGACCTCGCACAGGGTACCC 0.642000 39 290 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52146932 52146932 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:52146932A>G ENST00000596288.1 - 4 604 c.577T>C c.(577-579)Tgt>Cgt p.C193R MCM3_ENST00000229854.7_Missense_Mutation_p.C148R|MCM3_ENST00000419835.2_Missense_Mutation_p.C102R NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 148 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) GTAGCAGGACAGTAGTGGACA 0.488000 69 465 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162368 90162368 + RNA SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr16:90162368T>C ENST00000567960.1 + 0 1104 TUBB8P7_ENST00000564451.1_RNA GCCACCTTCATTGGGAATAAT 0.512000 79 435 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144650380 144650380 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:144650380G>T ENST00000398882.3 - 11 1952 c.1696C>A c.(1696-1698)Ctg>Atg p.L566M MROH6_ENST00000524906.1_De_novo_Start_InFrame|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000534459.1_De_novo_Start_InFrame NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 AACTCCTCCAGCAGGCCCCAG 0.652000 16 95 1.00905e-13 1.05562e-13 1 1 0 ABCB1 5243 broad.mit.edu 37 7 87178760 87178760 + Silent SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr7:87178760A>G ENST00000265724.3 - 15 2046 c.1629T>C c.(1627-1629)cgT>cgC p.R543R ABCB1_ENST00000543898.1_Silent_p.R479R NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 543 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GAACCAGGGCACGTGCAATGG 0.547000 76 392 0 0 1 0 0 CTC-435M10.3 0 broad.mit.edu 37 19 41884321 41884321 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:41884321G>C ENST00000540732.1 + 2 234 c.107G>C c.(106-108)aGa>aCa p.R36T TMEM91_ENST00000604123.1_Missense_Mutation_p.R93T|TMEM91_ENST00000539627.1_Missense_Mutation_p.R36T|TMEM91_ENST00000544232.1_Missense_Mutation_p.R36T|TMEM91_ENST00000447302.2_Missense_Mutation_p.R36T|TMEM91_ENST00000542945.1_Missense_Mutation_p.R36T|TMEM91_ENST00000413014.2_Missense_Mutation_p.R36T|TMEM91_ENST00000356385.4_Missense_Mutation_p.R36T|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R36T|TMEM91_ENST00000392002.2_Missense_Mutation_p.R36T|TMEM91_ENST00000436170.2_Missense_Mutation_p.R36T TCCCCCTTAAGAGAGATAGCC 0.612000 32 601 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85457659 85457659 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:85457659G>A ENST00000369663.5 - 5 1255 c.918C>T c.(916-918)gtC>gtT p.V306V TBX18_ENST00000606784.1_Silent_p.V148V|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 306 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GATAGGCAGTGACGGTTGTGA 0.438000 30 190 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11119 11119 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:11119C>T ENST00000361381.2 + 1 360 c.360C>T c.(358-360)atC>atT p.120_120insI mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 ATATTTTATATCTTCTTCGAA 0.418000 8 79 0 0 1 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9804 9804 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:9804G>A ENST00000362079.2 + 1 598 c.598G>A c.(598-600)Gcc>Acc p.200_200insT mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 CATTTTTTGTAGCCACAGGCT 0.443000 15 85 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14869 14869 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:14869G>C ENST00000361789.2 + 1 123 c.123G>C c.(121-123)ctG>ctC p.41_41insL mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 GGCGCCTGCCTGATCCTCCAA 0.493000 3 35 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 8701 8701 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:8701A>G ENST00000361899.2 + 1 175 c.175A>G c.(175-177)Acc>Gcc p.T59A mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 AACAAATGATAGCCATACACA 0.403000 8 97 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 5999 5999 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:5999T>C ENST00000361624.2 + 1 96 c.96T>C c.(94-96)gcT>gcC p.32_32insA mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CTAGGCACAGCTCTAAGCCTC 0.493000 7 77 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185966578 185966578 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:185966578G>C ENST00000271588.4 + 25 4025 c.3796G>C c.(3796-3798)Gat>Cat p.D1266H HMCN1_ENST00000367492.2_Missense_Mutation_p.D1266H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1266 Ig-like C2-type 10. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CACAGTGGAAGATCTAGAACC 0.383000 50 282 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206822032 206822032 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:206822032G>A ENST00000367106.1 + 4 1902 c.1429G>A c.(1429-1431)Gag>Aag p.E477K DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.E477K|DYRK3_ENST00000367109.2_Missense_Mutation_p.E497K O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 497 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CTTGTTTATAGAGTTCTTGAA 0.547000 19 575 0 0 1 0 0 STK4 6789 broad.mit.edu 37 20 43703783 43703783 + Missense_Mutation SNP T T A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr20:43703783T>A ENST00000372806.3 + 11 1525 c.1430T>A c.(1429-1431)aTa>aAa p.I477K STK4_ENST00000499879.2_Missense_Mutation_p.I422K|STK4_ENST00000372801.1_3'UTR NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 477 SARAH. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) CTGGATGCCATAGAGGCTAAG 0.572000 11 216 0 0 1 0 0 C3orf37 0 broad.mit.edu 37 3 129020839 129020839 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:129020839G>C ENST00000383463.4 + 6 771 c.682G>C c.(682-684)Gac>Cac p.D228H C3orf37_ENST00000389735.3_Missense_Mutation_p.D228H|C3orf37_ENST00000502878.2_Missense_Mutation_p.D228H|C3orf37_ENST00000417226.2_Missense_Mutation_p.D186H NM_020187.2 NP_064572.2 Q96FZ2 CC037_HUMAN 228 breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4) 14 TAAATGGCTTGACTTTGGTGA 0.463000 86 455 0 0 1 0 0 SLC17A9 63910 broad.mit.edu 37 20 61591929 61591929 + Silent SNP C C T rs144534537 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr20:61591929C>T ENST00000370349.3 + 5 657 c.453C>T c.(451-453)agC>agT p.S151S SLC17A9_ENST00000370351.4_Silent_p.S157S|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 157 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 TCACCTACAGCATCGTGGGCG 0.652000 17 157 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 16 313 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13368 13368 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:13368G>A ENST00000361567.2 + 1 1032 c.1032G>A c.(1030-1032)ggG>ggA p.G344G P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 344 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) ATGTGCTCCGGGTCCATCATC 0.448000 4 29 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45315574 45315574 + Missense_Mutation SNP A A C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:45315574A>C ENST00000391955.1 + 3 403 c.359A>C c.(358-360)gAg>gCg p.E120A BCAM_ENST00000270233.6_Missense_Mutation_p.E120A P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 120 Ig-like V-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GTGGGCGACGAGCGAGACTAC 0.682000 13 208 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153332931 153332931 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:153332931C>T ENST00000281708.4 - 2 1254 c.25G>A c.(25-27)Ggc>Agc p.G9S FBXW7_ENST00000603548.1_Missense_Mutation_p.G9S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G9S|FBXW7_ENST00000604872.1_Missense_Mutation_p.G9S NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 9 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTTTTGCTGCCCACAGAGAGC 0.483000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 37 171 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14905 14905 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:14905G>A ENST00000361789.2 + 1 159 c.159G>A c.(157-159)atG>atA p.53_53insI mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TTCCTAGCCATACACTACTCA 0.532000 6 26 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32634851 32634851 + Silent SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:32634851A>G ENST00000242310.4 - 1 816 c.727T>C c.(727-729)Ttg>Ctg p.L243L RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 243 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ACACTTGGCAACAGCTTGGTG 0.488000 46 523 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32020759 32020759 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:32020759C>G ENST00000375244.3 - 26 9004 c.8803G>C c.(8803-8805)Gaa>Caa p.E2935Q TNXB_ENST00000375247.2_Missense_Mutation_p.E2933Q P22105 TENX_HUMAN tenascin XB 2980 Fibronectin type-III 21. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCGGGAGTTTCTTCCTCTGCA 0.637000 47 209 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65793003 65793003 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr15:65793003G>A ENST00000341861.5 - 4 2115 c.535C>T c.(535-537)Ctg>Ttg p.L179L DPP8_ENST00000358939.4_Silent_p.L163L|DPP8_ENST00000559233.1_Silent_p.L179L|DPP8_ENST00000339244.5_Silent_p.L179L|DPP8_ENST00000321118.7_Silent_p.L179L|DPP8_ENST00000321147.6_Silent_p.L179L|DPP8_ENST00000300141.6_Silent_p.L163L NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 179 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity p.L163V(1) NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GCTTGAAACAGAAATGTTCCA 0.403000 102 757 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 8684 8684 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:8684C>T ENST00000361899.2 + 1 158 c.158C>T c.(157-159)aCc>aTc p.T53I mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 AATCAAACTAACCTCAAAACA 0.398000 7 110 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143959733 143959733 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:143959733C>T ENST00000409869.1 + 4 373 c.196C>T c.(196-198)Cat>Tat p.H66Y ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H66Y Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 66 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TCATTCACAGCATATCTTGAA 0.303000 66 306 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45533136 45533136 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:45533136G>A ENST00000415258.1 + 12 1508 c.1367G>A c.(1366-1368)gGc>gAc p.G456D LARS2_ENST00000414984.1_Missense_Mutation_p.G413D|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.G456D Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 456 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) CGGTACTGGGGCACACCAATC 0.582000 65 298 0 0 1 0 0 CDCA5 113130 broad.mit.edu 37 11 64847203 64847203 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:64847203C>T ENST00000275517.3 - 5 472 c.300G>A c.(298-300)gaG>gaA p.E100E CDCA5_ENST00000404147.3_Silent_p.E100E NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 100 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TGAAAAGGTCCTCCTTAGTAA 0.567000 4 67 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162549 33162549 + RNA SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:33162549T>C ENST00000510327.1 - 0 346 CATCTAATAATGAGCTGGTTC 0.522000 36 299 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152638043 152638043 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:152638043C>T ENST00000263985.6 - 4 665 c.625G>A c.(625-627)Gat>Aat p.D209N PET112_ENST00000515812.1_Missense_Mutation_p.D209N|PET112_ENST00000512306.1_Missense_Mutation_p.D209N NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 209 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTGTTCAAATCAATGAGCGTC 0.493000 58 462 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6047 6047 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:6047A>G ENST00000361624.2 + 1 144 c.144A>G c.(142-144)ctA>ctG p.48_48insL mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 GGCAACCTTCTAGGTAACGAC 0.473000 9 74 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162637 33162637 + RNA SNP C C T rs1842247 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:33162637C>T ENST00000510327.1 - 0 346 TGTCCCACTACGTGCTGCCCC 0.468000 7 162 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128696369 128696369 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:128696369G>A ENST00000371113.4 + 11 1113 c.948G>A c.(946-948)ctG>ctA p.L316L OCRL_ENST00000357121.5_Silent_p.L316L NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 316 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 AGGTTCAACTGGTGCGCCTTG 0.403000 85 328 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48744458 48744458 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:48744458G>A ENST00000314191.2 - 61 8235 c.8179C>T c.(8179-8181)Ctg>Ttg p.L2727L PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2727L NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2728 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CGTCTGCGCAGTCGTAGTAGG 0.552000 Non-homologous end-joining 142 774 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43305986 43305986 + Missense_Mutation SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:43305986C>A ENST00000361428.2 - 10 5827 c.5750G>T c.(5749-5751)aGt>aTt p.S1917I ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1917 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCCCTCCTCACTAACAACTGA 0.438000 75 509 3.66258e-25 3.96901e-25 1 1 0 AC016995.3 0 broad.mit.edu 37 2 38709239 38709239 + RNA SNP T T C rs112834477 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:38709239T>C ENST00000417039.1 - 0 696 GCCTCATATCTGGGGGAATGT 0.567000 55 336 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154544140 154544140 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:154544140C>G ENST00000368476.3 + 5 1105 c.841C>G c.(841-843)Ctg>Gtg p.L281V NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 281 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GGTCTTCCTGCTGCTCATCTC 0.577000 71 623 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 6 127 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3661083 3661083 + Missense_Mutation SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:3661083C>A ENST00000263087.4 - 9 1035 c.937G>T c.(937-939)Ggt>Tgt p.G313C NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 313 VWFA. cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AATATGCCACCATCGGTGAGC 0.542000 186 981 2.29838e-65 2.56212e-65 1 1 0 KIF4B 285643 broad.mit.edu 37 5 154395716 154395716 + Missense_Mutation SNP A A C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:154395716A>C ENST00000435029.4 + 1 2457 c.2297A>C c.(2296-2298)gAc>gCc p.D766A NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 766 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CATCTGAATGACCTCCTTGAA 0.458000 41 255 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160492963 160492963 + Missense_Mutation SNP A A C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:160492963A>C ENST00000356956.1 + 32 4613 c.4465A>C c.(4465-4467)Agc>Cgc p.S1489R NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1489 S -> N (in Ref. 2; AAA59866). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CATGTTCATCAGCGCCGTGGA 0.517000 24 589 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3438 3438 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:3438G>A ENST00000361390.2 + 1 132 c.132G>A c.(130-132)ggG>ggA p.44_44insG mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 GGCCCCTACGGGCTACTACAA 0.498000 4 31 0 0 1 0 0 SLC3A2 6520 broad.mit.edu 37 11 62648627 62648627 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:62648627G>C ENST00000377892.1 + 5 752 c.528G>C c.(526-528)aaG>aaC p.K176N SLC3A2_ENST00000338663.7_Missense_Mutation_p.K44N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.K145N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.K83N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.K146N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.K114N P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 145 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GTCTGGTGAAGATCAAGGTGG 0.657000 OREG0021031 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 44 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40711993 40711993 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:40711993G>A ENST00000253055.3 + 5 1652 c.1364G>A c.(1363-1365)cGc>cAc p.R455H NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 455 Arg/Lys-rich (basic). activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GTCCGCAAGCGCAAGGGCAAC 0.672000 31 128 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13743 13743 + Silent SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:13743T>C ENST00000361567.2 + 1 1407 c.1407T>C c.(1405-1407)acT>acC p.T469T P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 469 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TTTCTCATTACTAACAACATT 0.493000 3 21 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701318 56701318 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:56701318C>T ENST00000586855.2 - 5 1679 c.1366G>A c.(1366-1368)Gtt>Att p.V456I ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V456I A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 456 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CGCTGGTGAACGTTCAGGTTC 0.537000 11 248 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8661292 8661292 + Silent SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:8661292C>A ENST00000270328.4 - 9 1355 c.1089G>T c.(1087-1089)ctG>ctT p.L363L ADAMTS10_ENST00000597188.1_Silent_p.L363L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 363 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CCACCGGGGCCAGGCCTGGGA 0.657000 15 137 3.45872e-05 3.51034e-05 1 1 0 LRRC6 23639 broad.mit.edu 37 8 133595976 133595976 + Silent SNP A A T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:133595976A>T ENST00000519595.1 - 11 1289 c.1191T>A c.(1189-1191)acT>acA p.T397T LRRC6_ENST00000250173.1_Silent_p.T397T|LRRC6_ENST00000518642.1_Silent_p.T394T Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 397 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGTCCGAGGTAGTTTTCATAG 0.403000 32 325 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404147 197404147 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:197404147C>G ENST00000367397.1 + 5 2155 c.1297C>G c.(1297-1299)Caa>Gaa p.Q433E CRB1_ENST00000367400.3_Missense_Mutation_p.Q1052E|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1028E|CRB1_ENST00000544212.1_Missense_Mutation_p.Q533E|CRB1_ENST00000367399.2_Missense_Mutation_p.Q940E|CRB1_ENST00000538660.1_Intron P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1052 EGF-like 10; calcium-binding (Potential). Y -> C (in RP12). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTCCAGGTGGCAAATGGAAGT 0.453000 22 492 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189065010 189065010 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:189065010G>C ENST00000332517.3 + 4 894 c.754G>C c.(754-756)Gaa>Caa p.E252Q TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 252 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AGGAGCCCTGGAAAGGTAGGC 0.488000 155 741 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6692545 6692545 + Splice_Site SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:6692545C>A ENST00000309577.6 - 26 4043 c.e26-1 CHD4_ENST00000540960.1_Intron|CHD4_ENST00000357008.2_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CCTCTTCCTCCTGGGACAGAG 0.532000 24 660 3.5997e-14 3.78038e-14 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60688255 60688255 + Missense_Mutation SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:60688255C>A ENST00000335712.6 - 4 2019 c.1792G>T c.(1792-1794)Gac>Tac p.D598Y BCL11A_ENST00000356842.4_Missense_Mutation_p.D598Y|BCL11A_ENST00000538214.1_Missense_Mutation_p.D564Y|BCL11A_ENST00000537768.1_Missense_Mutation_p.D267Y|BCL11A_ENST00000358510.4_Missense_Mutation_p.D564Y|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 598 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GTGCCATCGTCTATGCGGTCC 0.697000 T IGH@ B-CLL 34 188 2.09667e-21 2.24525e-21 1 1 0 DLG5 9231 broad.mit.edu 37 10 79589222 79589222 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr10:79589222G>A ENST00000372391.2 - 12 2081 c.2076C>T c.(2074-2076)atC>atT p.I692I DLG5_ENST00000372388.2_Silent_p.I692I NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 692 PDZ 1. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GGAGCGCCTTGATGGCCTGCT 0.587000 25 750 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17033708 17033708 + RNA SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:17033708A>G ENST00000492551.1 - 0 696 NR_026567.1 ccttggtaaaaggggtgacga 0.612000 5 20 0 0 1 0 0 SHARPIN 81858 broad.mit.edu 37 8 145154701 145154701 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:145154701C>G ENST00000398712.2 - 4 1000 c.564G>C c.(562-564)gaG>gaC p.E188D SHARPIN_ENST00000533948.1_5'UTR NM_030974.3 NP_112236.3 Q9H0F6 SHRPN_HUMAN SHANK-associated RH domain interactor 188 Interaction with SHANK1 (By similarity). negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGCCCCCTTCTCGTCTCCAC 0.637000 44 379 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908435 164908435 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:164908435C>T ENST00000475390.1 - 2 627 c.184G>A c.(184-186)Gac>Aac p.D62N SLITRK3_ENST00000241274.3_Missense_Mutation_p.D62N O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 62 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CCTTTACTGTCACAATGTATA 0.373000 HNSCC(40;0.11) 61 505 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142222650 142222650 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:142222650G>C ENST00000519067.1 - 7 2097 c.1794C>G c.(1792-1794)atC>atG p.I598M SLC45A4_ENST00000517878.1_Missense_Mutation_p.I649M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I591M|SLC45A4_ENST00000024061.3_Missense_Mutation_p.I598M Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 649 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493) GGCTGTGGTGGATGTACTGCA 0.567000 11 204 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620313 56620313 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:56620313G>T ENST00000321691.3 - 1 1416 c.1235C>A c.(1234-1236)cCc>cAc p.P412H RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 412 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGGAGGCAAGGGCCTAGGGGT 0.547000 58 567 1.19403e-26 1.30959e-26 1 1 0 OPRL1 4987 broad.mit.edu 37 20 62729444 62729444 + Missense_Mutation SNP T T A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr20:62729444T>A ENST00000349451.3 + 5 935 c.523T>A c.(523-525)Tgg>Agg p.W175R OPRL1_ENST00000355631.4_Missense_Mutation_p.W175R|OPRL1_ENST00000336866.2_Missense_Mutation_p.W175R NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 175 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TGTGGCCATCTGGGCCCTGGC 0.627000 49 488 0 0 1 0 0 C1QL3 389941 broad.mit.edu 37 10 16562659 16562659 + Nonsense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr10:16562659G>A ENST00000298943.3 - 1 1345 c.406C>T c.(406-408)Cag>Tag p.Q136* NM_001010908.1 NP_001010908.1 Q5VWW1 C1QL3_HUMAN complement component 1, q subcomponent-like 3 136 C1q. collagen breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CCTTCATGCTGCCGCTTGAGG 0.687000 12 318 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128624058 128624058 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:128624058C>T ENST00000371122.4 - 15 2056 c.1927G>A c.(1927-1929)Gat>Aat p.D643N SMARCA1_ENST00000371121.3_Missense_Mutation_p.D631N|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D631N NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 643 Helicase C-terminal. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ACAATTGAATCGAGTCTCAGT 0.328000 26 84 0 0 1 0 0 SNX24 28966 broad.mit.edu 37 5 122272452 122272452 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:122272452G>C ENST00000261369.4 + 2 269 c.84G>C c.(82-84)atG>atC p.M28I SNX24_ENST00000395451.4_Missense_Mutation_p.M61I|SNX24_ENST00000513881.1_Missense_Mutation_p.M28I|SNX24_ENST00000506996.1_Missense_Mutation_p.M28I|SNX24_ENST00000511211.1_3'UTR NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 28 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) AAGTGCTAATGAATGGAAGAA 0.313000 49 172 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15607 15607 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:15607A>G ENST00000361789.2 + 1 861 c.861A>G c.(859-861)aaA>aaG p.287_287insK mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 GTCCCTAACAAACTAGGAGGC 0.453000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 10 60 0 0 1 0 0 TAPT1-AS1 0 broad.mit.edu 37 4 16258063 16258063 + RNA SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:16258063G>A ENST00000570786.1 + 0 418 TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA NR_027696.1 GACCTTGTCAGCCTCGGCCAC 0.547000 16 218 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11764 11764 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:11764A>G ENST00000361381.2 + 1 1005 c.1005A>G c.(1003-1005)gaA>gaG p.335_335insE mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TCAAACTACGAACGCACTCAC 0.483000 11 115 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 9117 9117 + Silent SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:9117T>C ENST00000361899.2 + 1 591 c.591T>C c.(589-591)atT>atC p.I197I mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 ACAATTCTAATTCTACTGACT 0.443000 5 60 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988368 135988368 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:135988368T>C ENST00000401392.1 - 13 1881 c.1669A>G c.(1669-1671)Aca>Gca p.T557A ZRANB3_ENST00000536680.1_Missense_Mutation_p.T557A|ZRANB3_ENST00000264159.6_Missense_Mutation_p.T557A|ZRANB3_ENST00000412849.1_5'UTR Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 557 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) GCTGTTTTTGTAGGGTCTGAT 0.413000 33 415 0 0 1 0 0 COMMD8 54951 broad.mit.edu 37 4 47462175 47462175 + Missense_Mutation SNP A A C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:47462175A>C ENST00000381571.4 - 2 275 c.208T>G c.(208-210)Tta>Gta p.L70V NM_017845.3 NP_060315.1 Q9NX08 COMD8_HUMAN COMM domain containing 8 70 protein binding large_intestine(2)|lung(5)|prostate(1) 8 TCATCAGGTAAGTTTTTACCA 0.343000 58 397 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 10 104 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 1811 1811 + RNA SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:1811A>G ENST00000387347.2 + 0 141 NR_039705.1 TGAAAAATTATAACCAAGCAT 0.378000 7 87 0 0 1 0 0 TDG 6996 broad.mit.edu 37 12 104373759 104373759 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:104373759G>A ENST00000392872.3 + 3 551 c.317G>A c.(316-318)aGa>aAa p.R106K TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.R102K NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 106 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAAGTAAAAAGAAAAGTAGAC 0.353000 Base excision repair (BER), DNA glycosylases 29 294 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80049208 80049208 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:80049208G>A ENST00000306749.2 - 9 1600 c.1382C>T c.(1381-1383)cCc>cTc p.P461L NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 461 Acyl and malonyl transferases (By similarity). AVPA -> LSPT (in Ref. 2; AAA73576). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GGCGGTGGCGGGGACAGCCGC 0.701000 15 87 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95818665 95818665 + Silent SNP G G T rs142308242 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr7:95818665G>T ENST00000416240.2 - 9 1064 c.874C>A c.(874-876)Cgg>Agg p.R292R SLC25A13_ENST00000265631.5_Silent_p.R292R|SLC25A13_ENST00000542654.1_Silent_p.R184R NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 292 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GGAGCAATCCGTTCAATGTCT 0.408000 31 148 9.17885e-22 9.86817e-22 1 1 0 EHBP1L1 254102 broad.mit.edu 37 11 65351822 65351822 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:65351822C>G ENST00000309295.4 + 10 3469 c.3204C>G c.(3202-3204)aaC>aaG p.N1068K NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 1068 CH. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CCTGGCGCAACGGCTTGGCCT 0.622000 16 415 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11812 11812 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:11812A>G ENST00000361381.2 + 1 1053 c.1053A>G c.(1051-1053)ctA>ctG p.351_351insL mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CTTCAAACTCTACTCCCACTA 0.473000 38 85 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161139773 161139773 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:161139773G>T ENST00000367999.4 + 9 1212 c.946G>T c.(946-948)Gtg>Ttg p.V316L PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.V316L|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 316 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTCTGTAGCTGTGGTGAATCT 0.577000 19 187 8.28177e-16 8.73117e-16 1 1 0 NACA2 342538 broad.mit.edu 37 17 59668536 59668536 + Silent SNP C C G rs112308210 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:59668536C>G ENST00000521764.1 - 1 27 c.6G>C c.(4-6)ccG>ccC p.P2P NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 2 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TGGCTTCGCCCGGCATTTTGT 0.577000 13 382 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390123 158390123 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:158390123G>A ENST00000314902.2 - 1 533 c.534C>T c.(532-534)ttC>ttT p.F178F NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) CAATGTCACAGAAGAAGTGAT 0.463000 91 470 0 0 1 0 0 PLK4 0 broad.mit.edu 37 4 128804674 128804674 + Silent SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:128804674A>G ENST00000270861.5 + 4 577 c.303A>G c.(301-303)ctA>ctG p.L101L PLK4_ENST00000507249.1_Silent_p.L101L|PLK4_ENST00000513090.1_Silent_p.L69L|PLK4_ENST00000514379.1_Silent_p.L60L|PLK4_ENST00000515069.1_Silent_p.L101L NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 101 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 ACAGGTATCTAAAGAATAGAG 0.323000 86 257 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220326745 220326745 + Missense_Mutation SNP A A C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:220326745A>C ENST00000358951.2 - 33 3765 c.3649T>G c.(3649-3651)Tta>Gta p.L1217V NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 1217 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.L1217V(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) ACTTTCAATAAGAACTTGAAA 0.408000 80 370 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41834718 41834718 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:41834718C>G ENST00000396930.3 - 8 1714 c.1171G>C c.(1171-1173)Gac>Cac p.D391H KAT6A_ENST00000265713.2_Missense_Mutation_p.D391H|KAT6A_ENST00000406337.1_Missense_Mutation_p.D391H|KAT6A_ENST00000485568.1_Missense_Mutation_p.D391H NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 391 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CTGCAGAAGTCCAAGCCATCT 0.453000 47 491 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2141 2141 + RNA SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:2141T>C ENST00000387347.2 + 0 471 NR_039705.1 GAAAAAACCTTGTAGAGAGAG 0.383000 13 104 0 0 1 0 0 AC016995.3 0 broad.mit.edu 37 2 38709079 38709079 + RNA SNP C C T rs111340107 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:38709079C>T ENST00000417039.1 - 0 696 AATGTTTCATCGTGGGAGCAG 0.537000 20 171 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617947 100617947 + Missense_Mutation SNP T T A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr13:100617947T>A ENST00000267294.4 - 2 1909 c.1676A>T c.(1675-1677)gAc>gTc p.D559V NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 559 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GTAGGATTTGTCACAGCCTCG 0.522000 140 394 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67067334 67067334 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:67067334C>T ENST00000447274.2 + 9 1831 c.656C>T c.(655-657)gCg>gTg p.A219V ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A306V|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A219V|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A219V Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 219 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CTGGGGATGGCGCAGCAGCAT 0.687000 27 291 0 0 1 0 0 SERPINB1 1992 broad.mit.edu 37 6 2838132 2838132 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:2838132G>A ENST00000380739.5 - 4 610 c.408C>T c.(406-408)gtC>gtT p.V136V SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR P30740 ILEU_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 1 136 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2) 13 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) TCTGTCCTTTGACCCACTGGT 0.488000 90 936 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13966 13966 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:13966A>G ENST00000361567.2 + 1 1630 c.1630A>G c.(1630-1632)Acg>Gcg p.T544A P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 544 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) TAGGCCTTCTTACGAGCCAAA 0.428000 6 32 0 0 1 0 0 SCGN 10590 broad.mit.edu 37 6 25670278 25670278 + Nonsense_Mutation SNP A A T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:25670278A>T ENST00000377961.2 + 6 613 c.445A>T c.(445-447)Aaa>Taa p.K149* SCGN_ENST00000334979.6_3'UTR NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 149 EF-hand 4. extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TTCTGAGGCTAAACTGGAAGA 0.463000 101 544 0 0 1 0 0 SCGN 10590 broad.mit.edu 37 6 25670281 25670281 + Missense_Mutation SNP C C A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:25670281C>A ENST00000377961.2 + 6 616 c.448C>A c.(448-450)Ctg>Atg p.L150M SCGN_ENST00000334979.6_3'UTR NM_006998.3 NP_008929.2 O76038 SEGN_HUMAN secretagogin, EF-hand calcium binding protein 150 EF-hand 4. extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TGAGGCTAAACTGGAAGAATA 0.463000 97 533 2.44874e-31 2.70755e-31 1 1 0 WDR45 11152 broad.mit.edu 37 X 48932556 48932556 + Nonsense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:48932556C>T ENST00000473974.1 - 9 879 c.741G>A c.(739-741)tgG>tgA p.W247* WDR45_ENST00000396681.4_Missense_Mutation_p.G316E|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.G331E|WDR45_ENST00000376372.3_Missense_Mutation_p.G330E|WDR45_ENST00000356463.3_Missense_Mutation_p.G331E|WDR45_ENST00000470270.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.G341E|WDR45_ENST00000485908.1_Missense_Mutation_p.G295E|WDR45_ENST00000553851.1_Intron Q9Y484 WIPI4_HUMAN WD repeat domain 45 247 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 GTGGAAGGTCCCATCTACGCA 0.537000 20 291 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143427196 143427196 + Missense_Mutation SNP T T G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:143427196T>G ENST00000524325.1 - 3 321 c.146A>C c.(145-147)gAg>gCg p.E49A TSNARE1_ENST00000307180.3_Missense_Mutation_p.E49A|TSNARE1_ENST00000520166.1_Missense_Mutation_p.E49A|TSNARE1_ENST00000519651.1_Intron Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 49 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGCTTGCTCTCTGGCGACGG 0.597000 22 329 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42511790 42511790 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:42511790G>T ENST00000318522.5 + 9 1220 c.958G>T c.(958-960)Gac>Tac p.D320Y EML4_ENST00000401738.3_Missense_Mutation_p.D331Y|EML4_ENST00000402711.2_Missense_Mutation_p.D262Y NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 320 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 TATACATCCTGACAAAATTAG 0.378000 T ALK NSCLC 43 274 1.23103e-26 1.34474e-26 1 1 0 MESDC1 59274 broad.mit.edu 37 15 81295381 81295381 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr15:81295381G>T ENST00000267984.2 + 1 2087 c.769G>T c.(769-771)Gca>Tca p.A257S NM_022566.2 NP_072088.1 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 257 endometrium(1)|lung(2) 3 CCTGGTGCAGGCAGTGAGCGC 0.736000 4 40 0.00909568 0.00912924 1 1 0 DSE 29940 broad.mit.edu 37 6 116580008 116580008 + Silent SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:116580008A>G ENST00000540275.1 + 2 523 c.402A>G c.(400-402)gcA>gcG p.A134A Q9UL01 DSE_HUMAN dermatan sulfate epimerase 63 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TTGACGATGCACACAGTCATG 0.552000 7 157 0 0 1 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864416 22864416 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:22864416C>G ENST00000251822.6 + 5 1195 c.658C>G c.(658-660)Cac>Gac p.H220D RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H227D|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H242D|RP11-875O11.1_ENST00000523884.1_RNA NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 220 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CTGGAAGTCCCACCTCCGCAA 0.652000 82 529 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28849295 28849295 + Splice_Site SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:28849295G>T ENST00000422425.2 + 50 3591 c.3546_splice c.e50-1 p.D1183_splice PLB1_ENST00000327757.5_Splice_Site_p.D1194_splice|PLB1_ENST00000541605.1_Splice_Site_p.D159_splice NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1194 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GTCCCCTCAGGACATCAACCT 0.547000 33 246 3.11337e-16 3.29509e-16 1 1 0 DSE 29940 broad.mit.edu 37 6 116579984 116579984 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:116579984C>T ENST00000540275.1 + 2 499 c.378C>T c.(376-378)gaC>gaT p.D126D Q9UL01 DSE_HUMAN dermatan sulfate epimerase 55 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AGGTGTATGACCTCGAAGGCA 0.577000 19 178 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 14139 14139 + Silent SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:14139A>G ENST00000361567.2 + 1 1803 c.1803A>G c.(1801-1803)ctA>ctG p.L601L P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 601 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) ACCCTACTCCTAATCACATAA 0.398000 4 42 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155123170 155123170 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:155123170C>T ENST00000367178.3 + 7 1248 c.672C>T c.(670-672)gcC>gcT p.A224A SCAF8_ENST00000367186.4_Silent_p.A290A|SCAF8_ENST00000417268.1_Silent_p.A224A NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 224 Gln-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TTCTGCAGGCCCTAGATGCTG 0.443000 81 276 0 0 1 0 0 WDR83 84292 broad.mit.edu 37 19 12786384 12786384 + Silent SNP G G A rs142130654 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:12786384G>A ENST00000418543.3 + 11 1195 c.846G>A c.(844-846)tcG>tcA p.S282S WDR83_ENST00000242796.4_Silent_p.S282S NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 282 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 TGGTGCAGTCGCTGGCCTACC 0.657000 OREG0025272 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 226 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49520322 49520322 + Splice_Site SNP A A C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:49520322A>C ENST00000221421.2 - 1 15 c.e1+1 NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) CTGTAGTCTTACCTGGAGCAT 0.602000 80 921 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68062034 68062034 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:68062034G>C ENST00000262210.5 + 16 2008 c.1977G>C c.(1975-1977)atG>atC p.M659I CSPP1_ENST00000412460.1_Intron NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 694 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TGAATAGGATGCACAGACAAA 0.328000 111 851 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45486422 45486422 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:45486422G>T ENST00000359600.5 - 12 2693 c.2488C>A c.(2488-2490)Cag>Aag p.Q830K NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 830 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) ATGTGCTTCTGTATTGCTTCC 0.448000 160 990 4.16832e-71 4.66577e-71 1 1 0 CTC-457E21.3 0 broad.mit.edu 37 19 22785299 22785299 + RNA SNP T T G rs11670278 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:22785299T>G ENST00000600260.1 + 0 1475 NR_033899.1 CCCTGCAGGGTGCCATGGAGA 0.632000 8 121 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51503919 51503919 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:51503919G>A ENST00000391806.2 - 3 206 c.126C>T c.(124-126)gtC>gtT p.V42V KLK8_ENST00000291726.7_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000600767.1_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron O60259 KLK8_HUMAN kallikrein-related peptidase 8 23 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GGTTCAAATGGACACACGGCA 0.587000 38 401 0 0 1 0 0 DYM 54808 broad.mit.edu 37 18 46783384 46783384 + Missense_Mutation SNP T T A rs61758455 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr18:46783384T>A ENST00000269445.6 - 13 1913 c.1456A>T c.(1456-1458)Atc>Ttc p.I486F DYM_ENST00000442713.2_Missense_Mutation_p.I296F NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 486 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 ATTTACCTGATGATCCTCTGG 0.403000 34 181 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 12007 12007 + Nonsense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:12007G>A ENST00000361381.2 + 1 1248 c.1248G>A c.(1246-1248)tgG>tgA p.416_416ins* mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 ACAACACAATGGGGCTCACTC 0.448000 5 68 0 0 1 0 0 BSX 390259 broad.mit.edu 37 11 122850021 122850021 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:122850021G>C ENST00000343035.2 - 2 455 c.407C>G c.(406-408)tCc>tGc p.S136C NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 136 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) TTCTGGCGTGGACAGGTAGCG 0.657000 24 459 0 0 1 0 0 TRAV16 0 broad.mit.edu 37 14 22458938 22458938 + RNA SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:22458938C>T ENST00000390444.1 + 0 90 AGAAGCTCCTCTCTGTCTTTA 0.483000 16 77 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6827 6827 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:6827T>C ENST00000361624.2 + 1 924 c.924T>C c.(922-924)gcT>gcC p.308_308insA mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TTCACCTCCGCTACCATAATC 0.463000 5 77 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56565133 56565133 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:56565133C>T ENST00000390649.3 + 13 3258 c.3258C>T c.(3256-3258)tgC>tgT p.C1086C NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1086 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTGCGCTGTGCGAGGGACTGA 0.622000 47 308 0 0 1 0 0 AC016995.3 0 broad.mit.edu 37 2 38709678 38709678 + RNA SNP C C T rs148735877 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:38709678C>T ENST00000417039.1 - 0 696 TGTCTGCAGACTGGCTACCCA 0.512000 39 288 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245520 46245520 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:46245520G>C ENST00000334344.6 + 15 3786 c.3614G>C c.(3613-3615)gGa>gCa p.G1205A ARID2_ENST00000444670.1_Missense_Mutation_p.G815A|ARID2_ENST00000422737.1_Missense_Mutation_p.G1056A|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1205 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACCATGAGCGGAACGCAGACA 0.483000 """N, S, F""" hepatocellular carcinoma 50 249 0 0 1 0 0 UBE2Q1 55585 broad.mit.edu 37 1 154525225 154525225 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:154525225C>G ENST00000292211.4 - 6 880 c.801G>C c.(799-801)caG>caC p.Q267H UBE2Q1_ENST00000497453.1_5'UTR NM_017582.6 NP_060052.3 Q7Z7E8 UB2Q1_HUMAN ubiquitin-conjugating enzyme E2Q family member 1 267 ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CTTTGAAACTCTGTGATCGGT 0.572000 20 465 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162435 33162435 + RNA SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:33162435A>G ENST00000510327.1 - 0 346 TGTGCAGGGAAGTAACAAGAA 0.537000 13 265 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22331987 22331987 + Silent SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:22331987C>T ENST00000290122.3 + 3 196 c.177C>T c.(175-177)ggC>ggT p.G59G CELA3A_ENST00000374663.1_Silent_p.G59G NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACACGTGTGGCGGTAGCCTCA 0.622000 OREG0013211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 504 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124267697 124267697 + Missense_Mutation SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:124267697C>T ENST00000395571.3 - 3 1107 c.490G>A c.(490-492)Gag>Aag p.E164K ZHX1_ENST00000522655.1_Missense_Mutation_p.E164K|ZHX1_ENST00000297857.2_Missense_Mutation_p.E164K|ZHX1-C8ORF76_ENST00000357082.4_Intron NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 164 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TCTGCTTGCTCTGCATTCTCC 0.323000 29 636 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 8027 8027 + Missense_Mutation SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:8027G>A ENST00000361739.1 + 1 442 c.442G>A c.(442-444)Gcc>Acc p.A148T mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 TCCCGATTGAAGCCCCCATTC 0.468000 11 85 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27297832 27297832 + Missense_Mutation SNP T T C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:27297832T>C ENST00000429845.2 - 24 2407 c.2045A>G c.(2044-2046)gAa>gGa p.E682G NEK10_ENST00000357467.2_Missense_Mutation_p.E79G|NEK10_ENST00000341435.5_Missense_Mutation_p.E682G Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 682 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTTACTGTTTTCTTGTTTTTG 0.358000 12 117 0 0 1 0 0 NTMT1 28989 broad.mit.edu 37 9 132395107 132395107 + Missense_Mutation SNP T T A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr9:132395107T>A ENST00000372486.1 + 2 474 c.125T>A c.(124-126)aTc>aAc p.I42N NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372481.3_Missense_Mutation_p.I42N|NTMT1_ENST00000372483.4_Missense_Mutation_p.I42N|NTMT1_ENST00000459968.2_Missense_Mutation_p.I42N|NTMT1_ENST00000372480.1_Missense_Mutation_p.I42N|NTMT1_ENST00000486391.2_Intron N-terminal Xaa-Pro-Lys N-methyltransferase 1 AGCATCGACATCAACAGCTCC 0.567000 108 569 0 0 1 0 0 STK4 6789 broad.mit.edu 37 20 43703792 43703792 + Missense_Mutation SNP A A T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr20:43703792A>T ENST00000372806.3 + 11 1534 c.1439A>T c.(1438-1440)aAg>aTg p.K480M STK4_ENST00000499879.2_Missense_Mutation_p.K425M|STK4_ENST00000372801.1_3'UTR NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 480 SARAH. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) ATAGAGGCTAAGAAGAGACGG 0.562000 10 211 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517108 158517108 + Missense_Mutation SNP G G T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:158517108G>T ENST00000302617.3 - 1 787 c.788C>A c.(787-789)aCc>aAc p.T263N NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) ACGGGCATAGGTGAAAAGTGT 0.483000 98 608 9.86815e-39 1.09557e-38 1 1 0 AC009499.1 0 broad.mit.edu 37 2 33952621 33952621 + RNA SNP G G A rs11684598 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:33952621G>A ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA CTTCGGTGGCGTAAGCCACAC 0.647000 6 153 0 0 1 0 0 CTSF 8722 broad.mit.edu 37 11 66331559 66331559 + Splice_Site SNP C C T TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:66331559C>T ENST00000310325.5 - 12 1489 c.1380_splice c.e12+1 p.K460_splice NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 460 SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9). proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CAAGACTCACCTTCTCACCCC 0.612000 14 112 0 0 1 0 0 FAM180A 389558 broad.mit.edu 37 7 135418815 135418815 + Missense_Mutation SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr7:135418815G>C ENST00000338588.3 - 3 695 c.430C>G c.(430-432)Cag>Gag p.Q144E FAM180A_ENST00000415751.1_Missense_Mutation_p.Q144E NM_205855.3 NP_995327.1 Q6UWF9 F180A_HUMAN family with sequence similarity 180, member A 144 extracellular region endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1) 14 ATGTCCTTCTGATGGCCGTGG 0.607000 39 281 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 1888 1888 + RNA SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrM:1888G>A ENST00000387347.2 + 0 218 NR_039705.1 TTTGCAAGGAGAGCCAAAGCT 0.398000 14 110 0 0 1 0 0 C19orf59 199675 broad.mit.edu 37 19 7743463 7743463 + Missense_Mutation SNP A A G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:7743463A>G ENST00000333598.3 + 5 914 c.460A>G c.(460-462)Att>Gtt p.I154V C19orf59_ENST00000597445.1_Missense_Mutation_p.I111V|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.D26G NM_174918.2 NP_777578.2 Q8IX19 MCEM1_HUMAN chromosome 19 open reading frame 59 154 integral to membrane endometrium(1)|lung(2)|skin(1)|stomach(1) 5 CAGGAGCAAGATTGATAGATT 0.522000 OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 236 0 0 1 0 0 TIMP1 7076 broad.mit.edu 37 X 47446054 47446054 + Silent SNP G G C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:47446054G>C ENST00000218388.4 + 6 758 c.588G>C c.(586-588)ctG>ctC p.L196L SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000377017.1_Silent_p.L132L NM_003254.2 NP_003245.1 P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 196 erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(1)|large_intestine(2) 3 AGCCAGGGCTGTGCACCTGGC 0.612000 12 201 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15354198 15354198 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:15354198C>G ENST00000263377.2 - 14 2903 c.2682G>C c.(2680-2682)ttG>ttC p.L894F NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 894 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GTGTTTGGGTCAAGGCTGGTG 0.682000 T C15orf55 lethal midline carcinoma of young people 5 65 0 0 1 0 0 CDCP2 200008 broad.mit.edu 37 1 54605517 54605517 + Frame_Shift_Del DEL T T - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:54605517delT ENST00000371330.1 - 4 1873 c.1026delA c.(1024-1026)ccfs p.P343fs CDCP2_ENST00000530059.1_5'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 343 CUB 3. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 AGGTCACGGGTGGTGGCAGGT 0.632 43 270 --- --- --- --- KCNC4 3749 broad.mit.edu 37 1 110768648 110768664 + Frame_Shift_Del DEL CTGGCCTCACCCAACCC CTGGCCTCACCCAACCC - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:110768648_110768664delCTGGCCTCACCCAACCC ENST00000369787.3 + 3 1694_1710 c.1667_1683delCTGGCCTCACCCAACCC c.(1666-1683)gfs p.AGLTQP556fs KCNC4_ENST00000413138.3_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000438661.2_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000412512.2_Intron NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 556 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGGAGGGAGCTGGCCTCACCCAACCCCTGGCCTCCT 0.641 51 300 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 9 91 --- --- --- --- OTUD7B 56957 broad.mit.edu 37 1 149920861 149920869 + Splice_Site DEL CCTGGCTTA CCTGGCTTA - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:149920861_149920869delCCTGGCTTA ENST00000369135.3 - 10 1533 c.e10+1 NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) AAAGACTAGGCCTGGCTTACCTGGCCAAT 0.498 26 353 --- --- --- --- RPL31P11 0 broad.mit.edu 37 1 161654767 161654768 + RNA INS - - C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:161654767_161654768insC ENST00000426558.1 - 0 274_275 NR_002595.1 TATGGGACATTCTTATTCCTTT 0.465 7 192 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 8 602 --- --- --- --- PIK3C2B 5287 broad.mit.edu 37 1 204438072 204438072 + Frame_Shift_Del DEL G G - rs115574296 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr1:204438072delG ENST00000367187.3 - 3 1415 c.859delC c.(859-861)gcfs p.R287fs PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R287fs*92(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCATAGGTGCGGGGGGGCACC 0.622 8 699 --- --- --- --- HIBCH 26275 broad.mit.edu 37 2 191161629 191161629 + Frame_Shift_Del DEL T T - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr2:191161629delT ENST00000392332.3 - 3 268 c.129delA c.(127-129)aafs p.K43fs HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 43 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CCGTGCAACCTTTTTTTTCCA 0.353 7 339 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 11 1103 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 7 324 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 7 289 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 212236 212236 + RNA DEL A A - rs80061878 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:212236delA ENST00000356347.3 + 0 172 NR_027481.1 ctaaaaatacaaaaaaaaaaa 0.493 5 9 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126408614 126408614 + Frame_Shift_Del DEL A A - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr4:126408614delA ENST00000394329.3 + 16 12944 c.12931delA c.(12931-12933)aafs p.K4311fs FAT4_ENST00000335110.5_Frame_Shift_Del_p.K2552fs NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4311 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCTAATTGGGAAAAATGGAAC 0.403 8 677 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33162470 33162470 + RNA DEL G G - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:33162470delG ENST00000510327.1 - 0 346 GGTTGGACGTGGGGGAATTTC 0.527 23 327 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33162627 33162627 + RNA DEL T T - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:33162627delT ENST00000510327.1 - 0 346 AGTGGTAAGATGTCCCACTAC 0.473 10 181 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr5:149216457_149216459delGGA ENST00000309241.5 + 8 2471_2473 c.2439_2441delGGA c.(2437-2442)ggg>gg p.GE813del PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 813 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) aggaagaaggggaggaggaggag 0.606 13 539 --- --- --- --- GCM1 8521 broad.mit.edu 37 6 52996784 52996811 + Splice_Site DEL TAACTAACTCAAAAATCCAACCTGGAAA TAACTAACTCAAAAATCCAACCTGGAAA - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr6:52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA ENST00000259803.7 - 4 646_653 c.441_splice c.e4+1 p.F145_splice NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 145 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.?(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) AACTCTCACGTAACTAACTCAAAAATCCAACCTGGAAAAATATAAAGC 0.518 8 161 --- --- --- --- KLHL38 340359 broad.mit.edu 37 8 124664765 124664792 + Frame_Shift_Del DEL GCTGGGGGCCAACTGGCTCTGCAAGTAC GCTGGGGGCCAACTGGCTCTGCAAGTAC - rs7387544 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr8:124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC ENST00000325995.7 - 1 398_425 c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC c.(373-402)tcfs p.SYLQSQLAPS125fs CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 125 p.S134R(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CCAGGCAGTTGCTGGGGGCCAACTGGCTCTGCAAGTACGAGGAGCAGG 0.575 15 279 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 7 563 --- --- --- --- RARRES3 5920 broad.mit.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:63313709delA ENST00000255688.3 + 4 524 c.476delA c.(475-477)cafs p.Q159fs RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs NM_004585.3 NP_004576.2 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 159 lipid catabolic process|negative regulation of cell proliferation hydrolase activity kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 AGGAGATACCAAAAAAAAGCG 0.537 7 758 --- --- --- --- SSH3 54961 broad.mit.edu 37 11 67076881 67076899 + Frame_Shift_Del DEL TTGAACATGGCCCGGGAGA TTGAACATGGCCCGGGAGA - rs74859815 by1000genomes TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:67076881_67076899delTTGAACATGGCCCGGGAGA ENST00000308127.4 + 11 1253_1271 c.1075_1093delTTGAACATGGCCCGGGAGA c.(1075-1095)ttfs p.LNMAREI359fs SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Frame_Shift_Del_p.LNMAREI359fs|SSH3_ENST00000308298.7_Intron NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 359 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CACCCACATCTTGAACATGGCCCGGGAGATTGACAACTT 0.635 24 415 --- --- --- --- MRPL48 51642 broad.mit.edu 37 11 73555970 73555980 + Frame_Shift_Del DEL CCCAGTATGTT CCCAGTATGTT - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr11:73555970_73555980delCCCAGTATGTT ENST00000314282.7 + 2 1374_1384 c.23_33delCCCAGTATGTT c.(22-33)gfs p.AQYV8fs MRPL48_ENST00000310614.7_Frame_Shift_Del_p.AQYV107fs|MRPL48_ENST00000398483.3_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000411840.2_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Frame_Shift_Del_p.AQYV89fs Q96GC5 RM48_HUMAN mitochondrial ribosomal protein L48 107 translation mitochondrial ribosome protein binding|structural constituent of ribosome kidney(1) 1 GAGAGTTATGCCCAGTATGTTCACAACCTCT 0.403 40 241 --- --- --- --- PHC1 1911 broad.mit.edu 37 12 9087018 9087032 + In_Frame_Del DEL ATTCTCACCCACATC ATTCTCACCCACATC - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:9087018_9087032delATTCTCACCCACATC ENST00000433083.2 + 9 2207_2221 c.2062_2076delATTCTCACCCACATC c.(2062-2076)del p.ILTHI688del PHC1_ENST00000544916.1_In_Frame_Del_p.ILTHI733del|PHC1_ENST00000536844.1_In_Frame_Del_p.ILTHI339del|PHC1_ENST00000543824.1_In_Frame_Del_p.ILTHI733del P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 733 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 GAAGCCCCAGATTCTCACCCACATCATTGAAGGCT 0.544 8 507 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 7 216 --- --- --- --- SNRNP35 11066 broad.mit.edu 37 12 123950763 123950764 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr12:123950763_123950764delGA ENST00000526639.2 + 2 1255_1256 c.676_677delGA c.(676-678)gfs p.E226fs SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.E231fs|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.E226fs NM_022717.2 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 226 Arg-rich. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding p.E226*(1) NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 CAATGACTGGGAGAGAGAGAGG 0.554 7 344 --- --- --- --- MIR4500HG 0 broad.mit.edu 37 13 88157968 88157969 + RNA DEL AG AG - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr13:88157968_88157969delAG ENST00000436290.2 - 0 233 NR_033829.1 acagagaggcagagagagagag 0.450 2 4 --- --- --- --- COCH 1690 broad.mit.edu 37 14 31355263 31355270 + Frame_Shift_Del DEL GCTGTACA GCTGTACA - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:31355263_31355270delGCTGTACA ENST00000460581.2 + 9 1432_1439 c.886_893delGCTGTACA c.(886-894)gfs p.AVQ296fs RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000475087.1_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000396618.3_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000382493.4_Frame_Shift_Del_p.AVQ259fs O43405 COCH_HUMAN cochlin 408 VWFA 1. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) CAAGATAGCTGCTGTACAGTTTACTTAT 0.442 38 417 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 8 274 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 7 219 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 9 818 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709778 22709779 + RNA DEL TC TC - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr15:22709778_22709779delTC ENST00000314246.8 - 0 1069 CATGCTACCATCTCTCTCTCTG 0.535 8 1237 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23312380 23312380 + RNA DEL T T - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr15:23312380delT ENST00000560464.1 - 0 3118 TGTTAttttcttttttttttt 0.398 8 53 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365793 33365793 + RNA DEL T T - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr16:33365793delT ENST00000568520.1 - 0 84 TTTCTCTCCCTTATGGCTTCT 0.368 3 4 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089598 61089599 + RNA INS - - C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr16:61089598_61089599insC ENST00000591758.1 - 0 269_270 TAGCACCACCAGAAGTCTCAAC 0.426 7 333 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr16:74425400_74425402delCAA ENST00000429990.1 + 7 850_852 c.754_756delCAA c.(754-756)del p.Q253del nuclear pore complex interacting protein family, member B15 TCCTCCAACTCAACAACATTCTA 0.517 11 473 --- --- --- --- RP1-37N7.4 0 broad.mit.edu 37 17 18345812 18345812 + RNA DEL G G - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:18345812delG ENST00000580052.1 + 0 43 AGGCTCCTGAGGCTCCCCGGC 0.617 5 8 --- --- --- --- RNF135 84282 broad.mit.edu 37 17 29325974 29325984 + Frame_Shift_Del DEL GCCAGCTCTCT GCCAGCTCTCT - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:29325974_29325984delGCCAGCTCTCT ENST00000328381.5 + 5 1937_1947 c.1064_1074delGCCAGCTCTCT c.(1063-1074)afs p.SQLS355fs RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR NM_032322.3 NP_115698.3 Q8IUD6 RN135_HUMAN ring finger protein 135 355 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) AAGGGGACTAGCCAGCTCTCTGCATGGCACA 0.573 35 308 --- --- --- --- WIPF2 147179 broad.mit.edu 37 17 38421174 38421176 + In_Frame_Del DEL CTC CTC - rs151273872 byFrequency TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr17:38421174_38421176delCTC ENST00000323571.4 + 5 986_988 c.746_748delCTC c.(745-750)gct>g p.AP249del WIPF2_ENST00000583130.1_In_Frame_Del_p.AP249del|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_In_Frame_Del_p.AP249del NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 249 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CAGTCTCTGGCTCCTCCTCCTCC 0.596 HNSCC(43;0.11) 7 1163 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 7 284 --- --- --- --- ZNF812 729648 broad.mit.edu 37 19 9801486 9801489 + Frame_Shift_Del DEL AGTG AGTG - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:9801486_9801489delAGTG ENST00000457674.2 - 5 1208_1211 c.690_693delCACT c.(688-693)ttfs p.FT230fs ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GAGAAAAATTAGTGAAGGATTTCC 0.353 19 186 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 9 128 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 21 759 --- --- --- --- EPS8L1 54869 broad.mit.edu 37 19 55597500 55597501 + Frame_Shift_Ins INS - - A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:55597500_55597501insA ENST00000201647.6 + 16 1646_1647 c.1590_1591insA c.(1588-1593)aatcctfs p.NP530fs EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.NP403fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.NP466fs|EPS8L1_ENST00000588359.1_Frame_Shift_Ins_p.NP216fs NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 530 SH3. cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TGCCCTACAACATCCTGACACC 0.629 22 492 --- --- --- --- DNAAF3 352909 broad.mit.edu 37 19 55670960 55670961 + In_Frame_Ins INS - - AGA TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr19:55670960_55670961insAGA ENST00000527223.2 - 11 1380_1381 c.1379_1380insTCT c.(1378-1380)cat>cTCTat p.460_460H>LY CTD-2587H24.4_ENST00000587871.1_In_Frame_Ins_p.54_55SS>SLS|DNAAF3_ENST00000391720.4_In_Frame_Ins_p.440_440H>LY|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_In_Frame_Ins_p.393_393H>LY|DNAAF3_ENST00000455045.1_In_Frame_Ins_p.339_339H>LY|DNAAF3_ENST00000587789.2_5'UTR NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 393 GCTCAGGGATGAGAAGATGGAC 0.599 9 813 --- --- --- --- DGCR5 0 broad.mit.edu 37 22 19001654 19001655 + RNA DEL AA AA - rs79891328 TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr22:19001654_19001655delAA ENST00000440005.2 + 0 684 DGCR5_ENST00000424407.1_RNA actctatatcaaaaaaaaaaaa 0.446 2 4 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 8 677 --- --- --- --- TRPC5 7224 broad.mit.edu 37 X 111090417 111090418 + Frame_Shift_Ins INS - - C TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:111090417_111090418insC ENST00000262839.2 - 6 2542_2543 c.1624_1625insG c.(1624-1626)tgafs p.*542fs NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 542 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TCTGGTTTCATAATAGAAGTAA 0.441 7 486 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37fb4f51-7109-4ef2-9ef5-9524ff4162dd c38bb93b-3f01-430e-8066-dad94b77cb5a g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 8 518 --- --- --- ---