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 ZNF605 100289635 broad.mit.edu 37 12 133502222 133502222 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:133502222G>T ENST00000360187.4 - 5 2011 c.1663C>A c.(1663-1665)Cac>Aac p.H555N ZNF605_ENST00000392321.3_Missense_Mutation_p.H586N NM_183238.3 NP_899061.1 Q86T29 ZN605_HUMAN zinc finger protein 605 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00227)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06) TCTCCTGTGTGATTTCTTTGA 0.418000 13 586 2.31682e-05 0.00456484 2.31682e-05 1 0 CCDC30 728621 broad.mit.edu 37 1 43047064 43047064 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:43047064C>A ENST00000428554.2 + 15 2242 c.1099C>A c.(1099-1101)Cat>Aat p.H367N CCDC30_ENST00000340612.4_Missense_Mutation_p.H367N|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N|CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 367 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AGAACATGCTCATAAAGTCTG 0.348000 14 683 8.00594e-06 0.00188799 8.00594e-06 1 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 6 134 0 0 2.17888e-05 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 5 128 0 0 1.23904e-05 0 0 EPHB1 2047 broad.mit.edu 37 3 134873104 134873104 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:134873104C>A ENST00000398015.3 + 6 1778 c.1408C>A c.(1408-1410)Cgg>Agg p.R470R EPHB1_ENST00000493838.1_Silent_p.R31R NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 470 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CTATGAGATCCGGTACTATGA 0.542000 8 375 1.12685e-05 0.00245395 1.12685e-05 1 0 VRK2 7444 broad.mit.edu 37 2 58315553 58315553 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:58315553C>A ENST00000435505.2 + 9 1167 c.422C>A c.(421-423)tCa>tAa p.S141* VRK2_ENST00000340157.4_Nonsense_Mutation_p.S141*|VRK2_ENST00000417641.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S118* Q86Y07 VRK2_HUMAN vaccinia related kinase 2 141 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 TTTAAAAAGTCAACTGTCCTG 0.333000 13 906 1.49906e-05 0.0031734 1.49906e-05 1 0 CHEK2P2 0 broad.mit.edu 37 15 20496770 20496770 + RNA SNP T T C rs3865047 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr15:20496770T>C ENST00000555186.1 + 0 823 NR_038836.1 TTATAGTGTGTATTTTAATTA 0.353000 19 146 0 0 5.3912e-06 0 0 CCPG1 9236 broad.mit.edu 37 15 55657508 55657508 + Splice_Site SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr15:55657508C>A ENST00000310958.6 - 7 1005 c.e7-1 CCPG1_ENST00000425574.3_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Splice_Site|CCPG1_ENST00000569205.1_Splice_Site NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) TGAATTGTGCCtaaaataaat 0.274000 10 647 3.86212e-05 0.00711662 3.86212e-05 1 0 PSMD1 5707 broad.mit.edu 37 2 231937111 231937111 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:231937111C>A ENST00000308696.6 + 7 1025 c.863C>A c.(862-864)cCg>cAg p.P288Q PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q|PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 288 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding p.P288Q(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GGTACTGTTCCGGGATCAGAG 0.403000 10 762 1.12685e-05 0.00245395 1.12685e-05 1 0 AFG3L2 10939 broad.mit.edu 37 18 12363818 12363818 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr18:12363818C>A ENST00000269143.3 - 6 821 c.590G>T c.(589-591)cGa>cTa p.R197L NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 197 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding p.R197L(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) AAAGGTCACTCGAACAAAACG 0.303000 12 755 5.3912e-06 0.00130912 5.3912e-06 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 228 0 0 1.23904e-05 0 0 SCAF11 9169 broad.mit.edu 37 12 46320956 46320956 + Missense_Mutation SNP C C A rs11574972 byFrequency TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:46320956C>A ENST00000465950.1 - 1 2792 c.1583G>T c.(1582-1584)cGg>cTg p.R528L SCAF11_ENST00000369367.3_Missense_Mutation_p.R843L|SCAF11_ENST00000549162.1_Missense_Mutation_p.R651L|SCAF11_ENST00000419565.2_Missense_Mutation_p.R843L Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 843 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGATTTTTTCCGGCCTCTGGC 0.478000 14 806 5.01169e-05 0.00884117 5.01169e-05 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 10 262 0 0 1.64113e-05 0 0 DCP1B 196513 broad.mit.edu 37 12 2062397 2062397 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:2062397T>C ENST00000280665.6 - 7 788 c.709A>G c.(709-711)Aaa>Gaa p.K237E DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E|DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 237 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) CATGTAGCTTTGTCCTGCTTC 0.488000 27 204 0 0 4.66903e-05 0 0 TLE1 7088 broad.mit.edu 37 9 84208113 84208113 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:84208113C>A ENST00000376499.3 - 15 2472 c.1408G>T c.(1408-1410)Gga>Tga p.G470* NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 470 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 CGGGGGATTCCGGGTCCGATG 0.592000 10 554 1.58986e-06 0.000423164 3.86212e-05 1 0 SPATA16 83893 broad.mit.edu 37 3 172634107 172634107 + Splice_Site SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:172634107C>A ENST00000351008.3 - 9 1686 c.1503_splice c.e9+1 p.L501_splice NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 501 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AAATACTTACCAATTCTGCCT 0.408000 14 898 1.3612e-06 0.000368773 2.31682e-05 1 0 FAM183B 340286 broad.mit.edu 37 7 38725296 38725296 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:38725296G>A ENST00000409072.3 - 2 1244 c.310C>T c.(310-312)Cgc>Tgc p.R104C family with sequence similarity 183, member B endometrium(1)|lung(7) 8 TGGTCACGGCGTTCTGGGTCG 0.527000 251 662 0 0 2.47226e-05 0 0 ZNF845 91664 broad.mit.edu 37 19 53855012 53855012 + Missense_Mutation SNP A A G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:53855012A>G ENST00000458035.1 + 4 1201 c.1084A>G c.(1084-1086)Aaa>Gaa p.K362E ZNF845_ENST00000595091.1_Missense_Mutation_p.K362E NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AGAATGTGACAAAGCTTTCAG 0.388000 7 334 0 0 5.18039e-06 0 0 STS 412 broad.mit.edu 37 X 7268006 7268006 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chrX:7268006G>A ENST00000217961.4 + 10 1676 c.1456G>A c.(1456-1458)Gtg>Atg p.V486M NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 486 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TGCCACACACGTGTGCTTCTG 0.488000 Ichthyosis 50 263 0 0 2.47226e-05 0 0 OR2T4 127074 broad.mit.edu 37 1 248524891 248524891 + Silent SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:248524891C>T ENST00000366475.1 + 1 9 c.9C>T c.(7-9)aaC>aaT p.N3N NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCATGGACAACATCACCTGGA 0.468000 41 283 0 0 1.13552e-05 0 0 ZNF471 57573 broad.mit.edu 37 19 57035792 57035792 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:57035792C>A ENST00000308031.5 + 5 489 c.356C>A c.(355-357)tCc>tAc p.S119Y ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S119F(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) CTTGAGTGTTCCACTTTTGAA 0.378000 8 445 2.17888e-05 0.00444706 2.17888e-05 1 0 PROZ 8858 broad.mit.edu 37 13 113826319 113826319 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr13:113826319C>T ENST00000342783.4 + 9 1176 c.1169C>T c.(1168-1170)aCg>aTg p.T390M PROZ_ENST00000375547.2_Missense_Mutation_p.T368M NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 368 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) TGGTTTCTCACGGGGGTCCTG 0.562000 54 220 0 0 2.47226e-05 0 0 DENND1A 57706 broad.mit.edu 37 9 126146178 126146178 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:126146178C>A ENST00000373624.2 - 21 1793 c.1592G>T c.(1591-1593)cGg>cTg p.R531L DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 531 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CCTGAGTGTCCGATACGGCTG 0.662000 8 455 1.12685e-05 0.00245395 1.12685e-05 1 0 PER3 8863 broad.mit.edu 37 1 7887545 7887545 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:7887545G>T ENST00000377532.3 + 17 2780 c.2556G>T c.(2554-2556)ttG>ttT p.L852F PER3_ENST00000361923.2_Missense_Mutation_p.L844F P56645 PER3_HUMAN period circadian clock 3 844 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.L844F(1) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTCCTTACTTGGATACTTTTA 0.567000 13 937 1.05317e-09 3.1956e-07 1.49906e-05 1 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 4 60 0 0 2.56e-06 0 0 PRB3 5544 broad.mit.edu 37 12 11420496 11420496 + RNA SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:11420496G>A ENST00000381842.3 - 0 642 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) CTCCTTGTGGGGGTGGTCCTT 0.632000 8 147 0 0 2.31682e-05 0 0 TRIP12 9320 broad.mit.edu 37 2 230670536 230670536 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:230670536C>A ENST00000389045.3 - 15 1597 c.1525G>T c.(1525-1527)Gat>Tat p.D509Y TRIP12_ENST00000389044.4_Intron|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000283943.5_Intron Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 784 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GAATTAAAATCAATAGTATAA 0.418000 8 270 3.86212e-05 0.00711662 3.86212e-05 1 0 ZCCHC14 23174 broad.mit.edu 37 16 87525409 87525409 + Missense_Mutation SNP T T A rs146149024 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:87525409T>A ENST00000268616.4 - 1 242 c.25A>T c.(25-27)Agc>Tgc p.S9C NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 9 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) TGGTGGAAGCTGAAGGCCGGG 0.682000 4 112 0 0 3.59834e-05 0 0 DNAH1 25981 broad.mit.edu 37 3 52398935 52398935 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:52398935C>A ENST00000420323.2 + 34 5679 c.5418C>A c.(5416-5418)tcC>tcA p.S1806S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1806 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCATCGTGTCCGACCTGTTTC 0.607000 11 363 9.31168e-06 0.00207751 9.31168e-06 1 0 HMGCR 3156 broad.mit.edu 37 5 74643116 74643116 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:74643116G>A ENST00000287936.4 + 6 694 c.538G>A c.(538-540)Gga>Aga p.G180R HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R|HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 180 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) TCTTGTGATTGGAGTTGGTAC 0.353000 8 811 0 0 2.0095e-06 0 0 PCDHA11 0 broad.mit.edu 37 5 140250312 140250312 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:140250312C>T ENST00000398640.2 + 1 1624 c.1624C>T c.(1624-1626)Ccg>Tcg p.P542S PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGGGCGTGCCGCCTCTGAG 0.692000 7 727 0 0 2.0095e-06 0 0 FAM214A 56204 broad.mit.edu 37 15 52879377 52879377 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr15:52879377G>T ENST00000261844.7 - 11 3000 c.2848C>A c.(2848-2850)Cga>Aga p.R950R FAM214A_ENST00000546305.2_Silent_p.R957R|RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 950 GGAGGTACTCGATAACCCCTT 0.348000 8 458 5.50884e-06 0.00130912 5.50884e-06 1 0 USP5 0 broad.mit.edu 37 12 6970156 6970156 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:6970156C>A ENST00000229268.8 + 12 1436 c.1384C>A c.(1384-1386)Cgc>Agc p.R462S USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.R462S NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 462 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding p.R462S(2)|p.R462C(1) breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 TGAAGTGTTCCGCTTCTTGGT 0.537000 13 1274 4.68919e-08 1.38587e-05 3.86212e-05 1 0 C8orf34 116328 broad.mit.edu 37 8 69552683 69552683 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr8:69552683G>A ENST00000337103.4 + 7 2437 c.845G>A c.(844-846)cGt>cAt p.R282H C8orf34_ENST00000539993.1_Missense_Mutation_p.R307H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 307 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AACCAAGGCCGTCCTACTTAC 0.413000 39 462 0 0 6.26518e-05 0 0 HRNR 388697 broad.mit.edu 37 1 152187633 152187633 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:152187633G>T ENST00000368801.2 - 3 6547 c.6472C>A c.(6472-6474)Cgc>Agc p.R2158S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2158 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACCATAGCGGGAAGACGAA 0.617000 38 6391 2.0095e-06 0.000531746 2.0095e-06 1 0 GABRB1 2560 broad.mit.edu 37 4 47033985 47033985 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:47033985C>A ENST00000295454.3 + 2 427 c.135C>A c.(133-135)ctC>ctA p.L45L GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 45 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACAGATTGCTCAAAGGATATG 0.443000 14 787 3.52763e-06 0.000896964 5.01169e-05 1 0 RABGGTA 5875 broad.mit.edu 37 14 24737795 24737795 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:24737795C>A ENST00000399409.3 - 9 1414 c.931G>T c.(931-933)Gac>Tac p.D311Y RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 311 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) GGCAACTGGTCGTTGAGGGAG 0.557000 12 478 3.45872e-05 0.00669873 3.45872e-05 1 0 IGLV2-11 0 broad.mit.edu 37 22 23135323 23135323 + RNA SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:23135323G>A ENST00000390314.2 + 0 227 CAGCACCCAGGCAAAGCCCCC 0.557000 118 1396 0 0 2.47226e-05 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T T G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:62120282T>G ENST00000217182.3 - 7 1418 c.1253A>C c.(1252-1254)tAc>tCc p.Y418S EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity p.Y418S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667000 19 122 0 0 1.8613e-05 0 0 OBSCN 84033 broad.mit.edu 37 1 228432014 228432014 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:228432014G>T ENST00000570156.2 + 12 3573 c.3499G>T c.(3499-3501)Gca>Tca p.A1167S OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1075S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 105 Ig-like 12. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GATGATGTTTGCAAAGGAGCA 0.572000 42 428 1.23713e-20 3.83039e-18 2.47226e-05 1 0 THUMPD3 25917 broad.mit.edu 37 3 9416208 9416208 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:9416208G>T ENST00000345094.3 + 5 1150 c.816G>T c.(814-816)ttG>ttT p.L272F SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 272 THUMP. methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) AGGTTCTTTTGAACATCCATG 0.393000 24 670 9.93527e-08 2.88022e-05 9.21846e-06 1 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 9 874 0 0 5.50884e-06 0 0 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G G C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:31237922G>C ENST00000251758.5 + 5 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding p.R167T(11) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612000 Multiple Myeloma(12;0.14) 6 116 0 0 3.59834e-05 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 5 217 0 0 1.23904e-05 0 0 ZNF347 84671 broad.mit.edu 37 19 53644064 53644064 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:53644064T>C ENST00000452676.2 - 5 2446 c.2020A>G c.(2020-2022)Aga>Gga p.R674G ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GTATGAACTCTCCGATGTCTT 0.428000 11 921 0 0 1.64113e-05 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 6 966 0 0 5.18039e-06 0 0 MLH3 27030 broad.mit.edu 37 14 75515338 75515338 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:75515338G>T ENST00000355774.2 - 2 1236 c.1021C>A c.(1021-1023)Cag>Aag p.Q341K MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q341K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K|MLH3_ENST00000238662.7_Missense_Mutation_p.Q341K NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 341 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) ACTCCTTCCTGAATGCAAAAC 0.343000 Mismatch excision repair (MMR) 12 632 9.31168e-06 0.00207751 9.31168e-06 1 0 ZNF160 90338 broad.mit.edu 37 19 53577428 53577428 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:53577428G>T ENST00000601421.1 - 2 1004 c.128C>A c.(127-129)cCa>cAa p.P43Q ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.P79Q Q9HCG1 ZN160_HUMAN zinc finger protein 160 79 KRAB. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) CGGCGTTCTTGGTTTTCTTGC 0.473000 11 703 1.3612e-06 0.000368773 2.31682e-05 1 0 VPS13A 23230 broad.mit.edu 37 9 79966298 79966298 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:79966298C>A ENST00000360280.3 + 53 7615 c.7355C>A c.(7354-7356)cCg>cAg p.P2452Q VPS13A_ENST00000376636.3_Missense_Mutation_p.P2413Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2452Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2452Q NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2452 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGGGCTGATCCGGTGGGCTCT 0.433000 12 963 1.58986e-06 0.000423164 3.86212e-05 1 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 13 206 0 0 8.00594e-06 0 0 RNF38 152006 broad.mit.edu 37 9 36339793 36339793 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:36339793T>C ENST00000357058.3 - 12 1861 c.1255A>G c.(1255-1257)Att>Gtt p.I419V RNF38_ENST00000350199.4_Missense_Mutation_p.I419V|RNF38_ENST00000377885.2_Missense_Mutation_p.I419V|RNF38_ENST00000377877.4_Missense_Mutation_p.I426V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000259605.6_Missense_Mutation_p.I502V NM_194328.2 NP_919309.1 Q9H0F5 RNF38_HUMAN ring finger protein 38 502 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) GCTCGGCAAATTGGGCAAGTA 0.378000 47 214 0 0 2.47226e-05 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 10 729 0 0 2.31682e-05 0 0 MAGI3 260425 broad.mit.edu 37 1 114184571 114184571 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:114184571G>T ENST00000369615.1 + 10 1461 c.1399G>T c.(1399-1401)Ggt>Tgt p.G467C MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C|MAGI3_ENST00000307546.9_Missense_Mutation_p.G467C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 492 Interaction with PTEN.|PDZ 2. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGTGTCCTCGGTCACACTCA 0.358000 11 593 5.50884e-06 0.00130912 5.50884e-06 1 0 ZNF17 7565 broad.mit.edu 37 19 57932196 57932196 + Missense_Mutation SNP A A G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:57932196A>G ENST00000307658.7 + 4 1605 c.1342A>G c.(1342-1344)Aaa>Gaa p.K448E ZNF17_ENST00000601808.1_Missense_Mutation_p.K446E|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TGAATGCAACAAATGTGGGAA 0.398000 7 616 0 0 5.18039e-06 0 0 MYBL2 4605 broad.mit.edu 37 20 42338663 42338663 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:42338663C>A ENST00000217026.4 + 10 1693 c.1566C>A c.(1564-1566)ttC>ttA p.F522L MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 522 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CAACCCCGTTCAAGAACGCCC 0.587000 15 863 3.45872e-05 0.00669873 3.45872e-05 1 0 ZNF30 90075 broad.mit.edu 37 19 35434709 35434709 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:35434709G>T ENST00000439785.1 + 5 1286 c.842G>T c.(841-843)cGa>cTa p.R281L ZNF30_ENST00000303586.7_Missense_Mutation_p.R281L|ZNF30_ENST00000601142.1_Missense_Mutation_p.R280L|ZNF30_ENST00000426813.2_Missense_Mutation_p.R199L|ZNF30_ENST00000601957.1_3'UTR NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) CAACATCAGCGAATTCATACC 0.473000 8 337 2.17888e-05 0.00444706 2.17888e-05 1 0 TMEM248 55069 broad.mit.edu 37 7 66418350 66418350 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:66418350C>A ENST00000341567.4 + 6 1173 c.918C>A c.(916-918)ccC>ccA p.P306P NM_017994.4 NP_060464.1 transmembrane protein 248 p.P306P(1) AATTTTGTCCCGAGAAGGTGA 0.453000 10 795 9.31168e-06 0.00207751 9.31168e-06 1 0 LUZP4 51213 broad.mit.edu 37 X 114540856 114540856 + Silent SNP G G A rs148942179 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chrX:114540856G>A ENST00000371920.3 + 4 436 c.429G>A c.(427-429)ccG>ccA p.P143P LUZP4_ENST00000451986.2_Silent_p.P61P NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 143 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 AAGGAAATCCGGACAAATCAG 0.473000 37 166 0 0 1.8613e-05 0 0 DNAJB14 79982 broad.mit.edu 37 4 100830014 100830014 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:100830014T>C ENST00000442697.2 - 4 645 c.491A>G c.(490-492)aAg>aGg p.K164R NM_001031723.2|NM_001278310.1 NP_001026893.1|NP_001265239.1 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 164 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) CTGTTTTCGCTTTTCTGGATT 0.353000 36 379 0 0 1.13552e-05 0 0 TINAG 27283 broad.mit.edu 37 6 54254663 54254663 + Silent SNP C C A rs139720660 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:54254663C>A ENST00000259782.4 + 11 1467 c.1371C>A c.(1369-1371)tcC>tcA p.S457S NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 457 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TAAATGAGTCCGACATTGAAA 0.398000 15 817 3.52763e-06 0.000896964 5.01169e-05 1 0 TRAJ42 0 broad.mit.edu 37 14 22965873 22965873 + RNA SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:22965873G>T ENST00000390495.1 + 0 2 AGGACTGTGTGAATTATGGAG 0.453000 13 423 2.31682e-05 0.00456484 2.31682e-05 1 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 301 0 0 1.23904e-05 0 0 CCDC157 550631 broad.mit.edu 37 22 30766541 30766541 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:30766541C>T ENST00000405659.1 + 5 1356 c.647C>T c.(646-648)aCg>aTg p.T216M CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M Q569K6 CC157_HUMAN coiled-coil domain containing 157 216 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 ACCATTGAGACGGCCCTGGTG 0.622000 27 244 0 0 9.90768e-06 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432928 73432928 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:73432928G>A ENST00000263666.4 - 10 2903 c.2789C>T c.(2788-2790)aCg>aTg p.T930M PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 930 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GATGTAGCGCGTCCCGTCGCT 0.672000 31 209 0 0 5.84002e-05 0 0 FASTK 10922 broad.mit.edu 37 7 150775665 150775665 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:150775665G>A ENST00000297532.6 - 4 886 c.809C>T c.(808-810)aCg>aTg p.T270M FASTK_ENST00000482571.1_Missense_Mutation_p.T243M|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|FASTK_ENST00000540185.1_Intron NM_006712.4 NP_006703.1 Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 270 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GCTGAGTTGCGTTTCCTGAAC 0.642000 40 137 0 0 2.05139e-05 0 0 CD209 30835 broad.mit.edu 37 19 7810698 7810698 + Missense_Mutation SNP A A G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:7810698A>G ENST00000315599.7 - 4 476 c.454T>C c.(454-456)Tgg>Cgg p.W152R CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.W128R|CD209_ENST00000204801.8_Missense_Mutation_p.W108R|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000301357.8_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 152 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.W152R(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCAGGTCAGCTCC 0.557000 8 748 0 0 1.12685e-05 0 0 GLRA1 2741 broad.mit.edu 37 5 151208531 151208531 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:151208531C>A ENST00000274576.4 - 8 1302 c.1010G>T c.(1009-1011)cGg>cTg p.R337L GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L|GLRA1_ENST00000455880.2_Missense_Mutation_p.R337L NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 337 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTTATGTTGCCGAGACACAAA 0.478000 11 739 1.58986e-06 0.000423164 3.86212e-05 1 0 APPL2 55198 broad.mit.edu 37 12 105597519 105597519 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:105597519C>A ENST00000258530.3 - 9 891 c.666G>T c.(664-666)atG>atT p.M222I APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 222 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AAAAGCTGTCCATACGTTTGG 0.418000 20 1020 4.96729e-08 1.44924e-05 1.15919e-05 1 0 PKNOX1 5316 broad.mit.edu 37 21 44448897 44448897 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr21:44448897C>A ENST00000291547.5 + 10 1223 c.1012C>A c.(1012-1014)Cag>Aag p.Q338K PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q221K NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 338 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 AAAAACTGCTCAGAACCGGCC 0.502000 14 753 9.31168e-06 0.00207751 9.31168e-06 1 0 RPF2 84154 broad.mit.edu 37 6 111346763 111346763 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:111346763C>A ENST00000441448.2 + 10 991 c.899C>A c.(898-900)tCa>tAa p.S300* NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 300 nucleolus protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 GAGAAAAAGTCAAAAAGAATT 0.378000 13 154 1.5739e-10 4.80767e-08 3.45872e-05 1 0 RPTN 126638 broad.mit.edu 37 1 152128689 152128689 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:152128689C>T ENST00000316073.3 - 3 950 c.886G>A c.(886-888)Ggt>Agt p.G296S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 296 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCGTCTGACCGTAGTGGGAA 0.498000 13 1804 0 0 5.3912e-06 0 0 BRWD1 54014 broad.mit.edu 37 21 40582011 40582011 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr21:40582011C>A ENST00000342449.3 - 36 4185 c.4107G>T c.(4105-4107)gcG>gcT p.A1369A BRWD1_ENST00000380800.3_Silent_p.A1369A|BRWD1_ENST00000333229.2_Silent_p.A1369A NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1369 Bromo 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CATAATTTCCCGCATCTAGAG 0.343000 8 420 3.86212e-05 0.00711662 3.86212e-05 1 0 CENPP 401541 broad.mit.edu 37 9 95099894 95099894 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:95099894C>A ENST00000375587.3 + 3 876 c.361C>A c.(361-363)Cag>Aag p.Q121K NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 121 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 ACTTGAATTTCAGATTCTGGA 0.343000 14 975 3.45872e-05 0.00669873 3.45872e-05 1 0 KRT18 3875 broad.mit.edu 37 12 53344192 53344192 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:53344192C>A ENST00000550600.1 + 3 552 c.498C>A c.(496-498)gtC>gtA p.V166V KRT18_ENST00000388837.2_Silent_p.V166V|KRT18_ENST00000388835.3_Silent_p.V166V P05783 K1C18_HUMAN keratin 18 166 Coil 1B.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 ACTTTAGAGTCAAGTAAGTTT 0.537000 19 1216 2.31682e-05 0.00456484 2.31682e-05 1 0 RIMS2 9699 broad.mit.edu 37 8 105257203 105257203 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr8:105257203G>A ENST00000507740.1 + 18 3072 c.2836G>A c.(2836-2838)Gtg>Atg p.V946M RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000436393.2_Missense_Mutation_p.V1150M NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1194 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGGCCTGGCCGTGGAAATGAG 0.463000 HNSCC(12;0.0054) 108 613 0 0 2.47226e-05 0 0 SCN5A 6331 broad.mit.edu 37 3 38645288 38645288 + Nonsense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:38645288G>T ENST00000413689.1 - 12 1998 c.1805C>A c.(1804-1806)tCa>tAa p.S602* SCN5A_ENST00000455624.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.S602*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.S602* NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 602 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCCCAGTAATGAGACCACCCC 0.657000 13 584 5.01169e-05 0.00884117 5.01169e-05 1 0 OBSL1 23363 broad.mit.edu 37 2 220421218 220421218 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:220421218G>A ENST00000404537.1 - 13 4350 c.4294C>T c.(4294-4296)Cgg>Tgg p.R1432W OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1432 Ig-like 12. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CTCCCTGCCCGCAAAGTCACG 0.607000 8 651 0 0 2.17888e-05 0 0 CCDC88B 283234 broad.mit.edu 37 11 64111636 64111636 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:64111636C>A ENST00000356786.5 + 14 1667 c.1623C>A c.(1621-1623)ctC>ctA p.L541L CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 541 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACTCAGTGCTCGAGGCATCAG 0.632000 9 517 3.86212e-05 0.00711662 3.86212e-05 1 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 92 0 0 5.01169e-05 0 0 TRIM38 10475 broad.mit.edu 37 6 25972146 25972146 + Missense_Mutation SNP T T G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:25972146T>G ENST00000357085.3 + 5 1033 c.557T>G c.(556-558)cTc>cGc p.L186R TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 186 positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 TTTAAGAATCTCCAGTGTTTC 0.438000 22 223 0 0 5.49717e-05 0 0 HEBP2 23593 broad.mit.edu 37 6 138734065 138734065 + Nonstop_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:138734065G>T ENST00000367697.3 + 4 599 c.350G>T c.(349-351)tGa>tTa p.*117L HEBP2_ENST00000607197.1_Missense_Mutation_p.L156F|HEBP2_ENST00000448741.1_Nonstop_Mutation_p.*128L Q9Y5Z4 HEBP2_HUMAN heme binding protein 2 0 mitochondrion endometrium(1)|large_intestine(1)|lung(3) 5 Breast(32;0.0933) GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171) AACAACTTTTGACATTAGCAA 0.353000 13 500 5.01169e-05 0.00884117 5.01169e-05 1 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 10 391 0 0 5.50884e-06 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 244 0 0 1.12685e-05 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 193 0 0 5.18039e-06 0 0 TNXB 7148 broad.mit.edu 37 6 32049954 32049954 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:32049954G>A ENST00000375244.3 - 9 3796 c.3595C>T c.(3595-3597)Cgg>Tgg p.R1199W TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W P22105 TENX_HUMAN tenascin XB 1286 Fibronectin type-III 4. 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 ACCTGGGGCCGTCCATCCCTG 0.562000 43 129 0 0 1.13552e-05 0 0 PDCD11 22984 broad.mit.edu 37 10 105203711 105203711 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:105203711C>A ENST00000369797.3 + 34 5258 c.5164C>A c.(5164-5166)Cgg>Agg p.R1722R NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1722 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GAAGCGTTTCCGGCAGGAGAA 0.587000 10 646 3.07112e-06 0.000789711 3.07112e-06 1 0 ATAD2 29028 broad.mit.edu 37 8 124348766 124348766 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr8:124348766C>A ENST00000287394.5 - 22 3165 c.3058G>T c.(3058-3060)Gat>Tat p.D1020Y ATAD2_ENST00000521903.1_Missense_Mutation_p.D338Y NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1020 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTGACATAATCAGGAACCTAA 0.328000 21 761 4.4004e-07 0.00012363 5.49717e-05 1 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 7 348 0 0 1.12685e-05 0 0 BTAF1 9044 broad.mit.edu 37 10 93786913 93786913 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:93786913G>T ENST00000265990.6 + 37 5570 c.5262G>T c.(5260-5262)ttG>ttT p.L1754F BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1754 Helicase C-terminal. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TATACCGATTGATAACCAGAG 0.378000 68 373 7.33394e-39 2.30205e-36 2.47226e-05 1 0 KRT20 54474 broad.mit.edu 37 17 39034482 39034482 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:39034482C>A ENST00000167588.3 - 6 1095 c.1054G>T c.(1054-1056)Gaa>Taa p.E352* NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 352 Coil 2.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) ATATGGTATTCGTTGTTCTGG 0.493000 9 814 2.17888e-05 0.00444706 2.17888e-05 1 0 ZNF772 400720 broad.mit.edu 37 19 57985561 57985561 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:57985561C>T ENST00000343280.4 - 5 811 c.551G>A c.(550-552)aGt>aAt p.S184N ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N NM_001024596.2 NP_001019767.1 Q68DY9 ZN772_HUMAN zinc finger protein 772 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3) 9 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) AAGGTTTGCACTGAAGCAGAA 0.483000 40 508 0 0 5.1965e-05 0 0 IGKV1D-42 0 broad.mit.edu 37 2 90229521 90229521 + RNA SNP T T A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:90229521T>A ENST00000390278.2 + 0 361 AAACAGGACTTCAGTTACCCT 0.498000 43 262 0 0 2.05139e-05 0 0 TGDS 23483 broad.mit.edu 37 13 95246123 95246123 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr13:95246123G>T ENST00000261296.5 - 2 245 c.125C>A c.(124-126)cCa>cAa p.P42Q TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 42 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) CATATAGTTTGGATAATCTTC 0.274000 22 1087 3.45872e-05 0.00669873 3.45872e-05 1 0 NT5C1B 93034 broad.mit.edu 37 2 18766145 18766145 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:18766145G>T ENST00000304081.4 - 4 458 c.358C>A c.(358-360)Ccc>Acc p.P120T NT5C1B_ENST00000359846.2_Missense_Mutation_p.P180T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGCGACGCGGGTGGCTGGAGC 0.716000 9 84 2.17888e-05 0.00444706 2.17888e-05 1 0 UGT3A2 167127 broad.mit.edu 37 5 36066823 36066823 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:36066823G>T ENST00000282507.3 - 1 170 c.69C>A c.(67-69)gcC>gcA p.A23A UGT3A2_ENST00000513300.1_Silent_p.A23A|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 23 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCAGGATTTTGGCAGCCTCTG 0.592000 13 786 5.01169e-05 0.00884117 5.01169e-05 1 0 TUBBP5 0 broad.mit.edu 37 9 141070111 141070111 + RNA SNP T T C rs139643347 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:141070111T>C ENST00000503395.1 + 0 1191 p.S75S(1) CCATGGACTCTGTGCGCTCGG 0.697000 6 334 0 0 2.17888e-05 0 0 LY75 4065 broad.mit.edu 37 2 160667045 160667045 + Nonsense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:160667045G>T ENST00000263636.4 - 32 4718 c.4691C>A c.(4690-4692)tCa>tAa p.S1564* LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564* NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) ACCATGTTTTGAACACAATTT 0.338000 14 641 9.31168e-06 0.00207751 9.31168e-06 1 0 HYDIN 54768 broad.mit.edu 37 16 70843895 70843895 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:70843895C>A ENST00000393567.2 - 85 14824 c.14674G>T c.(14674-14676)Gaa>Taa p.E4892* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4892 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGCTGAAATTCAAATGAGAAC 0.483000 29 814 5.52252e-06 0.00130912 4.66903e-05 1 0 C22orf23 84645 broad.mit.edu 37 22 38343336 38343336 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:38343336G>T ENST00000249079.2 - 4 557 c.301C>A c.(301-303)Caa>Aaa p.Q101K C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K Q9BZE7 EVG1_HUMAN chromosome 22 open reading frame 23 101 endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) CCATTGGCTTGACACATGTTG 0.597000 15 535 4.72057e-08 1.38614e-05 7.33532e-06 1 0 MAMDC2 256691 broad.mit.edu 37 9 72785470 72785470 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:72785470G>A ENST00000377182.4 + 11 2191 c.1574G>A c.(1573-1575)cGg>cAg p.R525Q MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 525 MAM 4. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 AAAAGAAACCGGAGCAGCTGG 0.498000 6 381 0 0 2.0095e-06 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 7 193 0 0 5.50884e-06 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27535836 27535836 + RNA SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:27535836T>C ENST00000574842.1 + 0 255 GGCCCTAAGTTGAATGCAGTC 0.453000 30 275 0 0 2.90539e-05 0 0 GFRAL 389400 broad.mit.edu 37 6 55216353 55216353 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:55216353C>T ENST00000340465.2 + 5 759 c.673C>T c.(673-675)Cgc>Tgc p.R225C NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 225 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CAGTGTAATTCGCAGCTGCCA 0.428000 17 241 0 0 5.3912e-06 0 0 RABGAP1 23637 broad.mit.edu 37 9 125835869 125835869 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:125835869C>A ENST00000373647.4 + 16 2156 c.2022C>A c.(2020-2022)atC>atA p.I674I RABGAP1_ENST00000373643.5_Silent_p.I13I|RABGAP1_ENST00000493854.1_3'UTR NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 674 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 TGGTCAAGATCATGTTTGACT 0.438000 18 982 2.31682e-05 0.00456484 2.31682e-05 1 0 ZNF280A 129025 broad.mit.edu 37 22 22868515 22868515 + Silent SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:22868515C>T ENST00000302097.3 - 2 1692 c.1440G>A c.(1438-1440)ccG>ccA p.P480P NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GCAGTTGCTCCGGCTTTTTAA 0.443000 53 511 0 0 2.47226e-05 0 0 TUBA8 51807 broad.mit.edu 37 22 18606952 18606952 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:18606952C>T ENST00000330423.3 + 3 329 c.256C>T c.(256-258)Ctc>Ttc p.L86F TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 86 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 CTACCGCCAGCTCTTCCATCC 0.582000 15 160 0 0 2.31682e-05 0 0 C12orf52 84934 broad.mit.edu 37 12 113624632 113624632 + Silent SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:113624632C>T ENST00000548278.1 + 3 773 c.81C>T c.(79-81)gtC>gtT p.V27V C12orf52_ENST00000549621.1_Silent_p.V27V|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.V51V NM_032848.1 NP_116237.1 Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 27 negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 GCTACCGGGTCAAGGCCAGGA 0.652000 27 114 0 0 1.7367e-05 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 10 127 0 0 2.31682e-05 0 0 DIMT1 27292 broad.mit.edu 37 5 61699154 61699154 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:61699154C>A ENST00000199320.4 - 2 259 c.99G>T c.(97-99)ggG>ggT p.G33G KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Silent_p.G33G NM_014473.2 NP_055288.1 Q9UNQ2 DIMT1_HUMAN DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) 33 nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity GCTGCCCAATCCCCGTGTTGA 0.388000 64 383 3.83939e-23 1.19689e-20 2.47226e-05 1 0 HTR2A 3356 broad.mit.edu 37 13 47409499 47409499 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr13:47409499G>A ENST00000378688.4 - 3 1020 c.889C>T c.(889-891)Cgg>Tgg p.R297W HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W|HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 297 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGGATCGACCGCTGGAAGAGC 0.502000 35 179 0 0 1.48458e-05 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 6 128 0 0 5.18039e-06 0 0 FAM86FP 0 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 11 322 0 0 5.01169e-05 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908227 158908227 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:158908227C>A ENST00000368140.1 + 3 551 c.306C>A c.(304-306)atC>atA p.I102I PYHIN1_ENST00000368138.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000392254.2_Silent_p.I102I NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 102 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAGGAATAATCCCATCTAAAA 0.443000 9 487 7.48243e-07 0.000207656 2.17888e-05 1 0 CSF2RB 1439 broad.mit.edu 37 22 37333569 37333569 + Silent SNP G G A rs140662059 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:37333569G>A ENST00000262825.5 + 14 1954 c.1737G>A c.(1735-1737)ccG>ccA p.P579P CSF2RB_ENST00000406230.1_Silent_p.P579P|CSF2RB_ENST00000403662.3_Silent_p.P573P|CSF2RB_ENST00000536485.1_Silent_p.P520P NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 573 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AGCCAGGCCCGCCTGCCGCCT 0.647000 16 96 0 0 8.00594e-06 0 0 SMC1B 27127 broad.mit.edu 37 22 45765841 45765841 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:45765841G>T ENST00000357450.4 - 15 2412 c.2413C>A c.(2413-2415)Caa>Aaa p.Q805K SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 805 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TACCTTTTTTGATCAATTTCT 0.294000 15 466 2.31682e-05 0.00456484 2.31682e-05 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 17 710 0 0 1.64113e-05 0 0 OTOGL 283310 broad.mit.edu 37 12 80749714 80749714 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:80749714C>A ENST00000458043.2 + 46 5771 c.5765C>A c.(5764-5766)tCa>tAa p.S1922* OTOGL_ENST00000547103.1_Nonsense_Mutation_p.S1910* NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ACCTGCTGTTCAAAGGAAGTT 0.383000 17 784 5.3912e-06 0.00130912 5.3912e-06 1 0 MPP3 4356 broad.mit.edu 37 17 41886383 41886383 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:41886383G>T ENST00000398393.1 - 17 1857 c.1597C>A c.(1597-1599)Cag>Aag p.Q533K MPP3_ENST00000398389.4_Missense_Mutation_p.Q508K Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 508 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CTTTTTTCCTGAATTGCAGGC 0.378000 15 623 1.15919e-05 0.00251234 1.15919e-05 1 0 OXCT1 5019 broad.mit.edu 37 5 41840613 41840613 + Splice_Site SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:41840613C>A ENST00000196371.5 - 7 832 c.671_splice c.e7-1 p.R224_splice OXCT1_ENST00000509987.1_Splice_Site_p.R38_splice NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 224 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) TTGCACTTTTCCTACAGGGGT 0.368000 9 692 3.86212e-05 0.00711662 3.86212e-05 1 0 PITPNM2 57605 broad.mit.edu 37 12 123494616 123494616 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:123494616C>A ENST00000280562.5 - 5 629 c.424G>T c.(424-426)Gac>Tac p.D142Y PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D142Y|PITPNM2_ENST00000392428.1_Intron Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 142 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TTGACAATGTCGATGAAGTCT 0.567000 8 416 1.12685e-05 0.00245395 1.12685e-05 1 0 OR2M2 391194 broad.mit.edu 37 1 248344093 248344093 + Missense_Mutation SNP C C T rs149761766 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:248344093C>T ENST00000359682.2 + 1 806 c.806C>T c.(805-807)aCg>aTg p.T269M NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CACTCCCCAACGCAGGACAAG 0.502000 166 796 0 0 2.47226e-05 0 0 ZAN 7455 broad.mit.edu 37 7 100350550 100350550 + RNA SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:100350550T>C ENST00000542585.1 + 0 2970 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.L941P(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACAGAAAAACTCACCATCCCC 0.517000 6 691 0 0 1.12685e-05 0 0 C1orf110 339512 broad.mit.edu 37 1 162824970 162824970 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:162824970G>T ENST00000367912.1 - 4 665 c.491C>A c.(490-492)cCa>cAa p.P164Q C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367910.1_Missense_Mutation_p.P165Q|C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 165 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 GTCCTTAGATGGATTCACAGA 0.473000 13 1087 5.50884e-06 0.00130912 5.50884e-06 1 0 PLEKHA8P1 0 broad.mit.edu 37 12 45567702 45567702 + RNA SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:45567702G>T ENST00000256692.5 - 0 983 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CACCTTGGACGGTTATATTAT 0.343000 9 579 3.86212e-05 0.00711662 3.86212e-05 1 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 5 419 0 0 3.59834e-05 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 9 195 0 0 9.31168e-06 0 0 CRNN 49860 broad.mit.edu 37 1 152383339 152383339 + Silent SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:152383339T>C ENST00000271835.3 - 3 281 c.219A>G c.(217-219)gaA>gaG p.E73E RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 73 EF-hand. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCAGGAATTCCTTGAATT 0.537000 26 439 0 0 7.33532e-06 0 0 MRPL3 11222 broad.mit.edu 37 3 131219286 131219286 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:131219286G>T ENST00000264995.3 - 3 504 c.357C>A c.(355-357)gtC>gtA p.V119V MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Silent_p.V146V NM_007208.3 NP_009139.1 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 119 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 GAAGTAATGTGACCACATGCT 0.398000 21 916 4.16121e-05 0.00757574 4.16121e-05 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162338 90162338 + RNA SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:90162338T>C ENST00000567960.1 + 0 1074 TUBB8P7_ENST00000564451.1_RNA GACATCCCACTCCGGGGGCTA 0.483000 7 736 0 0 7.33532e-06 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190779 39190779 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:39190779T>C ENST00000344363.5 - 1 328 c.295A>G c.(295-297)Agt>Ggt p.S99G NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 109 extracellular region|keratin filament structural constituent of epidermis p.S99G(2) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACAGCTCCACTGCTGCCCTCC 0.652000 5 166 0 0 5.18039e-06 0 0 ZFP91 80829 broad.mit.edu 37 11 58379764 58379764 + Nonsense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:58379764C>T ENST00000316059.6 + 7 1042 c.871C>T c.(871-873)Cga>Tga p.R291* ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291* NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 291 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AGGAAGAAGACGAAAAGATGA 0.418000 26 238 0 0 4.66903e-05 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39412064 39412064 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:39412064G>A ENST00000394008.1 + 1 429 c.427G>A c.(427-429)Gcc>Acc p.A143T NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 143 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CTGCCGCCCCGCCTGCTGTGA 0.612000 62 670 0 0 2.47226e-05 0 0 ZNF761 388561 broad.mit.edu 37 19 53958280 53958280 + RNA SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:53958280G>T ENST00000454407.1 + 0 972 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATGCTTCCTTGGTTTCAACAG 0.383000 12 969 9.31168e-06 0.00207751 9.31168e-06 1 0 ATP7B 540 broad.mit.edu 37 13 52548807 52548807 + Silent SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr13:52548807G>A ENST00000242839.4 - 2 705 c.549C>T c.(547-549)gcC>gcT p.A183A ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.A183A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000542656.1_Silent_p.A151A NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 183 HMA 2. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) AAGTGATGACGGCCTCTTGGT 0.512000 Wilson disease 43 222 0 0 6.26518e-05 0 0 SGCG 6445 broad.mit.edu 37 13 23869565 23869565 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr13:23869565G>A ENST00000218867.3 + 6 641 c.517G>A c.(517-519)Gct>Act p.A173T SGCG_ENST00000545013.1_Missense_Mutation_p.A173T|SGCG_ENST00000537476.1_Missense_Mutation_p.A173T NM_000231.2 NP_000222.1 Q13326 SGCG_HUMAN sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 173 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) GCCTGAAGGGGCTCTTTTTGA 0.373000 172 805 0 0 2.47226e-05 0 0 ENPP3 5169 broad.mit.edu 37 6 131979467 131979467 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:131979467G>T ENST00000414305.1 + 7 797 c.469G>T c.(469-471)Gac>Tac p.D157Y ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 157 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TTTCAGGTTTGACCTGCCACC 0.328000 8 283 1.12685e-05 0.00245395 1.12685e-05 1 0 PRKAA1 5562 broad.mit.edu 37 5 40767579 40767579 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:40767579G>T ENST00000397128.2 - 6 818 c.810C>A c.(808-810)atC>atA p.I270I PRKAA1_ENST00000354209.3_Silent_p.I285I NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 270 Protein kinase. activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) TGATATCTTTGATTGTGGCCC 0.348000 11 400 3.07112e-06 0.000789711 3.07112e-06 1 0 CD99L2 83692 broad.mit.edu 37 X 149983362 149983362 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chrX:149983362G>T ENST00000370377.3 - 4 367 c.250C>A c.(250-252)Cgc>Agc p.R84S CD99L2_ENST00000437787.2_Missense_Mutation_p.R84S|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 84 cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGTTTCCTGCGGCCATCATCT 0.453000 9 561 5.50884e-06 0.00130912 5.50884e-06 1 0 HSD17B11 51170 broad.mit.edu 37 4 88258508 88258508 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:88258508C>A ENST00000358290.4 - 7 1138 c.823G>T c.(823-825)Gag>Tag p.E275* HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*|RP11-529H2.2_ENST00000508163.1_RNA NM_016245.3 NP_057329.2 Q8NBQ5 DHB11_HUMAN hydroxysteroid (17-beta) dehydrogenase 11 275 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) AGGAAACGCTCAGGAAGGATC 0.294000 21 620 3.70037e-05 0.00707642 3.70037e-05 1 0 RP1L1 94137 broad.mit.edu 37 8 10465247 10465247 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr8:10465247T>C ENST00000382483.3 - 4 6584 c.6361A>G c.(6361-6363)Act>Gct p.T2121A NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2121 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCCCTTCAGTCTCTGGGGCC 0.622000 7 916 0 0 3.86212e-05 0 0 ZNF208 7757 broad.mit.edu 37 19 22155223 22155223 + Silent SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:22155223T>C ENST00000397126.4 - 4 2761 c.2613A>G c.(2611-2613)aaA>aaG p.K871K ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.K771K(2)|p.K871K(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGAGGGCCATTTATAGGCTT 0.373000 6 416 0 0 3.59834e-05 0 0 RNF32 140545 broad.mit.edu 37 7 156437421 156437421 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:156437421C>A ENST00000392741.2 + 2 332 c.244C>A c.(244-246)Ctt>Att p.L82I RNF32_ENST00000392740.1_Missense_Mutation_p.L82I|RNF32_ENST00000392743.2_Missense_Mutation_p.L82I|RNF32_ENST00000343665.4_Missense_Mutation_p.L82I|RNF32_ENST00000405335.1_Missense_Mutation_p.L82I|RNF32_ENST00000317955.5_Missense_Mutation_p.L82I|RNF32_ENST00000311822.8_Missense_Mutation_p.L82I|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.L82I Q9H0A6 RNF32_HUMAN ring finger protein 32 82 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) AGAATATGTTCTTGATCCCAA 0.353000 16 658 4.16121e-05 0.00757574 4.16121e-05 1 0 BAGE2 85319 broad.mit.edu 37 21 11098910 11098910 + RNA SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr21:11098910G>A ENST00000470054.1 - 0 15 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcagctcagcgggagatacca 0.587000 3 21 0 0 2.56e-06 0 0 SPTA1 6708 broad.mit.edu 37 1 158592860 158592860 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:158592860G>T ENST00000368148.3 - 43 6213 c.6033C>A c.(6031-6033)gcC>gcA p.A2011A SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.A2008A NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2011 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.A2011A(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCAGCAGAGCGGCATAACGCT 0.478000 13 1356 2.17888e-05 0.00444706 2.17888e-05 1 0 B3GNT2 10678 broad.mit.edu 37 2 62449693 62449693 + Missense_Mutation SNP C C A rs142462866 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:62449693C>A ENST00000301998.4 + 2 590 c.338C>A c.(337-339)cCg>cAg p.P113Q B3GNT2_ENST00000405767.1_Missense_Mutation_p.P113Q NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 113 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) AACAACTTGCCGGACAGATTT 0.483000 15 1276 4.3838e-07 0.00012363 9.31168e-06 1 0 SPZ1 84654 broad.mit.edu 37 5 79616461 79616461 + Missense_Mutation SNP G G C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:79616461G>C ENST00000296739.4 + 1 672 c.427G>C c.(427-429)Gag>Cag p.E143Q NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAAGAAACAGGAGATGATATT 0.358000 8 527 0 0 3.86212e-05 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 78 304 0 0 2.47226e-05 0 0 TTN 7273 broad.mit.edu 37 2 179598474 179598474 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:179598474G>T ENST00000589042.1 - 53 15866 c.15642C>A c.(15640-15642)atC>atA p.I5214I TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.I4897I|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4897 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCTCATTTTGATTTTTCCGT 0.453000 20 744 5.49717e-05 0.00966016 5.49717e-05 1 0 SPOPL 339745 broad.mit.edu 37 2 139326586 139326586 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:139326586G>T ENST00000280098.4 + 11 1494 c.1115G>T c.(1114-1116)cGa>cTa p.R372L NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 372 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) GAAGCCTTTCGAGCACTAGCA 0.423000 28 1377 8.34094e-07 0.000228692 1.15919e-05 1 0 ZNF461 92283 broad.mit.edu 37 19 37130742 37130742 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:37130742G>T ENST00000588268.1 - 6 732 c.505C>A c.(505-507)Cat>Aat p.H169N ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATGTTTTCATGGTTAATCATA 0.358000 14 976 9.31168e-06 0.00207751 9.31168e-06 1 0 SSH1 54434 broad.mit.edu 37 12 109212031 109212031 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:109212031G>T ENST00000326495.5 - 4 366 c.273C>A c.(271-273)atC>atA p.I91I SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000546812.1_Intron|SSH1_ENST00000326470.5_Silent_p.I102I|SSH1_ENST00000551165.1_Silent_p.I91I NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 91 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTACCAGCTTGATTCTGTCTT 0.418000 17 775 1.32003e-05 0.00283396 1.32003e-05 1 0 ABCA4 24 broad.mit.edu 37 1 94466426 94466426 + Nonsense_Mutation SNP G G A rs140142529 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:94466426G>A ENST00000370225.3 - 47 6531 c.6445C>T c.(6445-6447)Cga>Tga p.R2149* ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*|ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268* NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2149 ABC transporter 2. R -> L (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCCATACATCGAAAGGCGCCC 0.562000 48 325 0 0 2.47226e-05 0 0 KMO 8564 broad.mit.edu 37 1 241714324 241714324 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:241714324C>A ENST00000366559.4 + 4 603 c.292C>A c.(292-294)Ccc>Acc p.P98T KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000366557.4_Missense_Mutation_p.P98T|KMO_ENST00000484628.1_3'UTR NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 98 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GTCTGCAATTCCCTATGGGAC 0.413000 11 675 4.3838e-07 0.00012363 9.31168e-06 1 0 TTN 7273 broad.mit.edu 37 2 179583118 179583118 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:179583118C>T ENST00000589042.1 - 85 24939 c.24715G>A c.(24715-24717)Gca>Aca p.A8239T TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7922T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7922 Ig-like 65. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTACTGTGCATAATCCTCT 0.398000 45 272 0 0 2.47226e-05 0 0 ZNF285 26974 broad.mit.edu 37 19 44892133 44892133 + Missense_Mutation SNP C C T rs140033872 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:44892133C>T ENST00000330997.4 - 4 338 c.274G>A c.(274-276)Gtg>Atg p.V92M CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TGAAGGTTCACGATATAATCC 0.418000 12 717 0 0 5.50884e-06 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 7 182 0 0 2.0095e-06 0 0 PUS1 80324 broad.mit.edu 37 12 132426520 132426520 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:132426520G>A ENST00000542167.2 + 4 1822 c.1069G>A c.(1069-1071)Ggc>Agc p.G357S PUS1_ENST00000376649.3_Missense_Mutation_p.G410S|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S|PUS1_ENST00000440818.2_Missense_Mutation_p.G382S|PUS1_ENST00000535067.1_Intron Q9Y606 TRUA_HUMAN pseudouridylate synthase 1 410 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) AGGTGGCACGGGCGCCAAGGT 0.612000 8 88 0 0 3.86212e-05 0 0 C20orf24 55969 broad.mit.edu 37 20 35236149 35236149 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:35236149G>T ENST00000344795.3 + 2 364 c.146G>T c.(145-147)cGa>cTa p.R49L C20orf24_ENST00000373852.5_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L|C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L NM_001199534.1|NM_018840.4 NP_001186463.1|NP_061328.1 chromosome 20 open reading frame 24 p.R49L(2) breast(1)|kidney(1)|lung(2) 4 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TACTGGTTCCGACAGATCATT 0.423000 8 416 1.49906e-05 0.0031734 1.49906e-05 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:37431050G>C ENST00000374660.1 + 7 1156 c.1057G>C c.(1057-1059)Gca>Cca p.A353P ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A353P(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGGCAGCAAAAGG 0.408000 8 548 0 0 1.12685e-05 0 0 ZMYM4 9202 broad.mit.edu 37 1 35859318 35859318 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:35859318C>A ENST00000314607.6 + 18 2969 c.2889C>A c.(2887-2889)acC>acA p.T963T ZMYM4_ENST00000373297.2_Silent_p.T874T NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 963 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AACCACATACCCAAAACAAAG 0.393000 10 665 9.31168e-06 0.00207751 9.31168e-06 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 10 247 0 0 1.15919e-05 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716900 142716900 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chrX:142716900G>T ENST00000381779.4 - 2 2250 c.2025C>A c.(2023-2025)acC>acA p.T675T SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 675 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CTTTTTTATTGGTTTTGTGGT 0.483000 9 408 3.86212e-05 0.00711662 3.86212e-05 1 0 C9orf135 138255 broad.mit.edu 37 9 72471475 72471475 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:72471475G>T ENST00000377197.3 + 3 353 c.266G>T c.(265-267)tGg>tTg p.W89L C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.W89L NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 89 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 TTCCAGATTTGGACATCAGAA 0.323000 8 289 7.48243e-07 0.000207656 2.17888e-05 1 0 CNBD2 140894 broad.mit.edu 37 20 34596256 34596256 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:34596256C>A ENST00000373973.3 + 9 1181 c.1008C>A c.(1006-1008)atC>atA p.I336I CNBD2_ENST00000349339.1_Silent_p.I336I|CNBD2_ENST00000538900.1_Silent_p.I336I cyclic nucleotide binding domain containing 2 p.I336I(1) AATTCCAGATCAAATCATATC 0.408000 15 588 2.94398e-08 8.75768e-06 8.00594e-06 1 0 ITGB6 3694 broad.mit.edu 37 2 160964209 160964209 + Nonsense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:160964209G>T ENST00000283249.2 - 14 2486 c.2249C>A c.(2248-2250)tCa>tAa p.S750* ITGB6_ENST00000409872.1_Nonsense_Mutation_p.S750*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.S708*|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.S643* P18564 ITB6_HUMAN integrin, beta 6 750 Interaction with HAX1. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 CTTGGCTTTTGATCGTTCTGC 0.473000 16 608 1.64113e-05 0.00345808 1.64113e-05 1 0 ZCCHC11 23318 broad.mit.edu 37 1 52911509 52911509 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:52911509C>A ENST00000371544.3 - 24 4034 c.3772G>T c.(3772-3774)Gga>Tga p.G1258* ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.G1258* NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1258 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AGTTTCCTTCCATTGATAAAT 0.294000 10 732 5.50884e-06 0.00130912 5.50884e-06 1 0 MAP2K6 5608 broad.mit.edu 37 17 67519707 67519707 + Nonsense_Mutation SNP C C A rs143627401 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:67519707C>A ENST00000590474.1 + 8 875 c.588C>A c.(586-588)tgC>tgA p.C196* MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140* NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 196 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|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|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TGAAGATGTGCGATTTTGGAA 0.448000 9 866 3.86212e-05 0.00711662 3.86212e-05 1 0 NCOR1 9611 broad.mit.edu 37 17 15978856 15978856 + Nonsense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:15978856G>T ENST00000268712.3 - 27 3919 c.3662C>A c.(3661-3663)tCa>tAa p.S1221* NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1237*|NCOR1_ENST00000395857.3_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1221 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ACTATCATATGACAAGATATG 0.423000 12 623 5.50884e-06 0.00130912 5.50884e-06 1 0 IQCG 84223 broad.mit.edu 37 3 197665429 197665429 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:197665429G>T ENST00000265239.6 - 5 929 c.505C>A c.(505-507)Cag>Aag p.Q169K IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 169 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CTATCAATCTGAATTTTCTTC 0.453000 16 802 5.01169e-05 0.00884117 5.01169e-05 1 0 ANAPC5 51433 broad.mit.edu 37 12 121773451 121773451 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:121773451C>A ENST00000261819.3 - 7 956 c.835G>T c.(835-837)Gat>Tat p.D279Y ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 279 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATCAGACGATCAAAATAATGG 0.448000 12 655 7.93312e-07 0.000218829 1.49906e-05 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 6 222 3.59834e-05 0.00691032 3.59834e-05 1 0 FGD4 121512 broad.mit.edu 37 12 32778699 32778699 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:32778699C>A ENST00000427716.2 + 14 2171 c.1747C>A c.(1747-1749)Cga>Aga p.R583R FGD4_ENST00000266482.3_Silent_p.R335R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000525053.1_Silent_p.R695R|FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000531134.1_Silent_p.R668R NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 583 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GCATCATTGTCGAGCATGTGG 0.383000 17 729 2.27731e-05 0.00456484 2.27731e-05 1 0 LRRC7 57554 broad.mit.edu 37 1 70446077 70446077 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:70446077C>A ENST00000310961.5 + 10 1046 c.628C>A c.(628-630)Caa>Aaa p.Q210K LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q205K Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 205 centrosome|focal adhesion|nucleolus protein binding p.Q205K(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGTTCTGGATCAAATACAAAA 0.328000 22 938 4.16121e-05 0.00757574 4.16121e-05 1 0 NADSYN1 55191 broad.mit.edu 37 11 71189504 71189504 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:71189504C>A ENST00000319023.2 + 10 1050 c.862C>A c.(862-864)Cga>Aga p.R288R NADSYN1_ENST00000539574.1_Silent_p.R28R NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 288 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GATTTCATCTCGAAACCTGGC 0.577000 5 61 3.59834e-05 0.00691032 3.59834e-05 1 0 ZNF845 91664 broad.mit.edu 37 19 53855011 53855011 + Silent SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:53855011C>T ENST00000458035.1 + 4 1200 c.1083C>T c.(1081-1083)gaC>gaT p.D361D ZNF845_ENST00000595091.1_Silent_p.D361D NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAGAATGTGACAAAGCTTTCA 0.388000 7 335 0 0 5.18039e-06 0 0 ACKR5 0 broad.mit.edu 37 3 46450404 46450404 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:46450404G>T ENST00000399036.3 + 2 1186 c.834G>T c.(832-834)ctG>ctT p.L278L ACKR5_ENST00000357392.4_Silent_p.L290L|ACKR5_ENST00000400882.2_Silent_p.L278L|ACKR5_ENST00000400880.3_Silent_p.L278L NM_003965.4 NP_003956.2 GCTACAATCTGGACAAAAGTG 0.458000 19 1672 3.07112e-06 0.000789711 3.07112e-06 1 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 7 835 0 0 2.17888e-05 0 0 CMYA5 202333 broad.mit.edu 37 5 79025398 79025398 + Silent SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:79025398G>A ENST00000446378.2 + 2 841 c.810G>A c.(808-810)gaG>gaA p.E270E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 270 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTAGTCTAGAGCCAGATTTGG 0.353000 20 264 0 0 1.15919e-05 0 0 FMN2 56776 broad.mit.edu 37 1 240371373 240371373 + Silent SNP A A T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:240371373A>T ENST00000319653.9 + 5 3491 c.3261A>T c.(3259-3261)ccA>ccT p.P1087P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1087 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCATACCCCCACCTCCCCCTC 0.726000 5 86 0 0 3.59834e-05 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17958842 17958842 + Silent SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:17958842G>A ENST00000361221.3 + 16 1770 c.1611G>A c.(1609-1611)ctG>ctA p.L537L ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Silent_p.L295L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L|ARHGEF10L_ENST00000375408.3_Silent_p.L315L NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 537 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGCGGCAGCTGCTCCTGTGTG 0.627000 85 473 0 0 2.47226e-05 0 0 PPFIA1 8500 broad.mit.edu 37 11 70172768 70172768 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:70172768C>A ENST00000253925.7 + 7 989 c.774C>A c.(772-774)atC>atA p.I258I PPFIA1_ENST00000389547.3_Silent_p.I258I|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 258 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TCCAAGAAATCATAAGTAAGC 0.433000 28 1323 2.27731e-05 0.00456484 2.27731e-05 1 0 C17orf66 256957 broad.mit.edu 37 17 34182158 34182158 + Nonsense_Mutation SNP G G T rs114102494 byFrequency TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:34182158G>T ENST00000311880.2 - 15 1770 c.1622C>A c.(1621-1623)tCg>tAg p.S541* C17orf66_ENST00000592980.1_Nonsense_Mutation_p.S501* NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 541 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TCGTGGTTTCGAGCAGCACGG 0.478000 14 690 5.01169e-05 0.00884117 5.01169e-05 1 0 PTPN4 5775 broad.mit.edu 37 2 120692428 120692428 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:120692428G>T ENST00000263708.2 + 15 2020 c.1249G>T c.(1249-1251)Ggt>Tgt p.G417C PTPN4_ENST00000544261.1_Missense_Mutation_p.G50C NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 417 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) ATCTTCAGTTGGTCATTTGGT 0.388000 12 556 5.01169e-05 0.00884117 5.01169e-05 1 0 STAT1 6772 broad.mit.edu 37 2 191847210 191847210 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:191847210C>T ENST00000361099.3 - 18 1868 c.1481G>A c.(1480-1482)cGa>cAa p.R494Q STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 494 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) CTGAGCCCATCGTGCACATGG 0.463000 44 465 0 0 1.39061e-05 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 9 549 0 0 2.17888e-05 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146080689 146080689 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:146080689C>A ENST00000394413.3 - 2 657 c.87G>T c.(85-87)acG>acT p.T29T PPP2R2B_ENST00000394411.4_Silent_p.T29T|PPP2R2B_ENST00000453001.1_Silent_p.T29T|PPP2R2B_ENST00000394410.2_Silent_p.T18T|PPP2R2B_ENST00000356826.3_Silent_p.T29T|PPP2R2B_ENST00000508545.2_Silent_p.T18T|PPP2R2B_ENST00000394414.1_Silent_p.T95T|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Silent_p.T87T|PPP2R2B_ENST00000504198.1_Silent_p.T35T|PPP2R2B_ENST00000336640.6_Silent_p.T32T Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 29 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAATTCTACCGTAGAGATAA 0.418000 16 1237 5.50884e-06 0.00130912 5.50884e-06 1 0 ZNF442 79973 broad.mit.edu 37 19 12461420 12461420 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:12461420C>A ENST00000242804.4 - 6 1561 c.979G>T c.(979-981)Ggg>Tgg p.G327W ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AATGCTTTCCCGCATTGCTTG 0.418000 11 1006 3.07112e-06 0.000789711 3.07112e-06 1 0 SPIRE1 56907 broad.mit.edu 37 18 12535496 12535496 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr18:12535496G>T ENST00000409402.4 - 4 975 c.708C>A c.(706-708)acC>acA p.T236T SPIRE1_ENST00000309836.5_Silent_p.T39T|SPIRE1_ENST00000410092.3_Silent_p.T236T|SPIRE1_ENST00000383356.2_Silent_p.T77T|SPIRE1_ENST00000453447.2_Silent_p.T116T NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 236 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 TCTTAATTTTGGTCAGAAATG 0.393000 13 679 9.31168e-06 0.00207751 9.31168e-06 1 0 DSE 29940 broad.mit.edu 37 6 116756757 116756757 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:116756757G>T ENST00000331677.3 + 7 1570 c.1126G>T c.(1126-1128)Ggc>Tgc p.G376C DSE_ENST00000452085.3_Missense_Mutation_p.G376C|DSE_ENST00000359564.2_Missense_Mutation_p.G376C|DSE_ENST00000537543.1_Missense_Mutation_p.G395C Q9UL01 DSE_HUMAN dermatan sulfate epimerase 376 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) CAGGTATGATGGCAGCTTGAA 0.408000 9 434 2.17888e-05 0.00444706 2.17888e-05 1 0 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:53116885A>G ENST00000597597.1 - 2 3186 c.933T>C c.(931-933)caT>caC p.H311H ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H P51522 ZNF83_HUMAN zinc finger protein 83 311 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418000 9 861 0 0 2.17888e-05 0 0 IDI1 3422 broad.mit.edu 37 10 1087287 1087287 + Nonsense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:1087287G>T ENST00000381344.3 - 5 861 c.695C>A c.(694-696)tCa>tAa p.S232* IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR NM_004508.2 NP_004499.2 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 1 175 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding large_intestine(3)|lung(2)|prostate(1) 6 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) TTCTTCCTTTGACACATAACA 0.348000 13 466 5.01169e-05 0.00884117 5.01169e-05 1 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 6 416 0 0 2.0095e-06 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 9 675 0 0 5.50884e-06 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T T G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:61161357T>G ENST00000515837.2 + 3 1083 c.136_splice c.e3-1 p.G46_splice TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR Q9P0N5 TM216_HUMAN transmembrane protein 216 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 23 200 0 0 1.17478e-05 0 0 PRDM5 11107 broad.mit.edu 37 4 121739540 121739540 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:121739540C>A ENST00000264808.3 - 5 858 c.618G>T c.(616-618)aaG>aaT p.K206N PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N|PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 206 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTGGGAATTTCTTCCCACAGT 0.373000 69 479 5.46685e-50 1.72791e-47 2.47226e-05 1 0 FAT4 79633 broad.mit.edu 37 4 126370128 126370128 + Nonsense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:126370128G>T ENST00000394329.3 + 9 7970 c.7957G>T c.(7957-7959)Gag>Tag p.E2653* FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2653 Cadherin 25. 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 ctCCTCTTACGAGAAACTTGA 0.373000 10 351 3.07112e-06 0.000789711 3.07112e-06 1 0 HDLBP 3069 broad.mit.edu 37 2 242187757 242187757 + Nonsense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:242187757C>A ENST00000391975.1 - 13 1746 c.1519G>T c.(1519-1521)Gag>Tag p.E507* HDLBP_ENST00000391976.2_Nonsense_Mutation_p.E507*|HDLBP_ENST00000427183.2_Nonsense_Mutation_p.E474*|HDLBP_ENST00000310931.4_Nonsense_Mutation_p.E507*|HDLBP_ENST00000476807.1_5'UTR NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 507 KH 5. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TTGGTACGCTCATTTTCCTAA 0.463000 13 471 2.31682e-05 0.00456484 2.31682e-05 1 0 FAM86FP 0 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:8386973C>T ENST00000427893.2 - 0 793 AGCCAGCCTCCGCAGGACCCC 0.592000 11 274 0 0 2.31682e-05 0 0 TRANK1 9881 broad.mit.edu 37 3 36897208 36897208 + Silent SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:36897208G>T ENST00000301807.6 - 12 4120 c.2223C>A c.(2221-2223)acC>acA p.T741T TRANK1_ENST00000428977.2_Silent_p.T741T|TRANK1_ENST00000429976.2_Silent_p.T1291T NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1291 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCCTCCCTTTGGTCATTTTGG 0.473000 12 853 1.49906e-05 0.0031734 1.49906e-05 1 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 9 732 0 0 1.49906e-05 0 0 KIRREL 55243 broad.mit.edu 37 1 158057941 158057941 + Missense_Mutation SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:158057941C>A ENST00000368172.1 + 3 319 c.307C>A c.(307-309)Cac>Aac p.H103N KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N|KIRREL_ENST00000359209.6_Missense_Mutation_p.H305N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 305 Ig-like C2-type 1. integral to membrane p.H305N(2)|p.H141N(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) AGTAAATGTCCACTGTGAGTA 0.532000 OREG0013906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 681 5.50884e-06 0.00130912 5.50884e-06 1 0 MYH7 4625 broad.mit.edu 37 14 23898270 23898270 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:23898270C>T ENST00000355349.3 - 14 1463 c.1301G>A c.(1300-1302)aGg>aAg p.R434K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 434 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTTGAACATCCTCTCATACAC 0.542000 6 414 0 0 1.12685e-05 0 0 SORBS2 8470 broad.mit.edu 37 4 186544639 186544639 + Silent SNP A A G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:186544639A>G ENST00000431808.1 - 14 2495 c.1932T>C c.(1930-1932)caT>caC p.H644H SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 644 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ggtggtggtgatggtggtggt 0.522000 5 243 0 0 1.23904e-05 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128735 45128735 + RNA SNP T T C rs138973461 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:45128735T>C ENST00000575173.1 - 0 418 GAAATACTAATGATTTTTATT 0.323000 14 561 0 0 3.45872e-05 0 0 SSUH2 51066 broad.mit.edu 37 3 8669466 8669466 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:8669466G>A ENST00000317371.4 - 15 1751 c.526C>T c.(526-528)Cgg>Tgg p.R176W SSUH2_ENST00000544814.1_Missense_Mutation_p.R198W|SSUH2_ENST00000415132.1_Missense_Mutation_p.R176W|SSUH2_ENST00000341795.3_Missense_Mutation_p.R176W ssu-2 homolog (C. elegans) GATGGGCACCGCACCTGCAGA 0.662000 29 180 0 0 9.21846e-06 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 6 359 0 0 2.31682e-05 0 0 MOB3A 126308 broad.mit.edu 37 19 2076887 2076887 + Missense_Mutation SNP C C T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:2076887C>T ENST00000357066.3 - 4 926 c.547G>A c.(547-549)Gtg>Atg p.V183M MOB3A_ENST00000592280.1_Missense_Mutation_p.V183M|MOB3A_ENST00000592143.1_Intron NM_130807.2 NP_570719.1 Q96BX8 MOL2A_HUMAN MOB kinase activator 3A 183 intracellular metal ion binding CAGGTGTTCACGTGGGCCTCG 0.612000 15 169 0 0 2.31682e-05 0 0 ACKR2 1238 broad.mit.edu 37 3 42906734 42906734 + Missense_Mutation SNP G G T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:42906734G>T ENST00000422265.1 + 3 915 c.740G>T c.(739-741)cGg>cTg p.R247L ACKR2_ENST00000442925.1_Missense_Mutation_p.R247L|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R247L NM_001296.4 NP_001287.2 atypical chemokine receptor 2 GGCCAGGGCCGGGCTTTAAAA 0.527000 12 774 9.31168e-06 0.00207751 9.31168e-06 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803437 142803437 + RNA SNP G G T rs112626665 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:142803437G>T ENST00000423385.1 - 0 1528 caagtagtttggattagaggc 0.333000 11 100 1.33834e-09 4.00744e-07 8.00594e-06 1 0 WDR19 57728 broad.mit.edu 37 4 39276564 39276564 + Silent SNP C C A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:39276564C>A ENST00000399820.3 + 33 3856 c.3702C>A c.(3700-3702)atC>atA p.I1234I WDR19_ENST00000288634.7_Silent_p.I1074I NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1234 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AAAAGAAGATCGAGGGAATGG 0.438000 7 205 1.06961e-07 3.08116e-05 5.18039e-06 1 0 AHRR 57491 broad.mit.edu 37 5 422893 422893 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:422893G>A ENST00000316418.5 + 6 547 c.503G>A c.(502-504)cGc>cAc p.R168H AHRR_ENST00000505113.1_Missense_Mutation_p.R168H|AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000506456.1_Missense_Mutation_p.R24H NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 168 PAS. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GTGGACGACCGCCAGGACTTC 0.567000 53 240 0 0 2.47226e-05 0 0 NLGN1 22871 broad.mit.edu 37 3 173998609 173998609 + Missense_Mutation SNP G G A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:173998609G>A ENST00000457714.1 + 7 2417 c.1988G>A c.(1987-1989)aGt>aAt p.S663N NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 680 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CAACAACCAAGTCCATTTTCA 0.468000 31 417 0 0 1.48458e-05 0 0 VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 7 845 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716108 8716109 + Frame_Shift_Ins INS - - T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:8716108_8716109insT ENST00000337907.3 - 3 882_883 c.248_249insA c.(247-249)atcfs p.I83fs RERE_ENST00000400908.2_Frame_Shift_Ins_p.I83fs|RERE_ENST00000400907.2_Frame_Shift_Ins_p.I83fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 83 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CATAACGAGACTTTTTTTTCGG 0.450 7 1338 --- --- --- --- PADI1 29943 broad.mit.edu 37 1 17555158 17555158 + Frame_Shift_Del DEL C C - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:17555158delC ENST00000375471.4 + 7 783 c.691delC c.(691-693)ccfs p.P231fs NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 231 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGTGCTGGGGCCCCAGTGTCT 0.582 7 1287 --- --- --- --- DLGAP3 58512 broad.mit.edu 37 1 35370281 35370283 + In_Frame_Del DEL TGG TGG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:35370281_35370283delTGG ENST00000373347.1 - 3 970_972 c.702_704delCCA c.(700-705)cag>ca p.HQ234del DLGAP3_ENST00000235180.4_In_Frame_Del_p.HQ234del O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 234 Poly-His. cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GTGCCGGGACtggtggtggtggt 0.650 7 489 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 7 1490 --- --- --- --- AGL 178 broad.mit.edu 37 1 100380997 100380997 + Frame_Shift_Del DEL A A - rs28730708 byFrequency TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:100380997delA ENST00000294724.4 + 31 4692 c.4214delA c.(4213-4215)gafs p.E1405fs AGL_ENST00000361915.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.E1389fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.E1389fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.E1388fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.E1405fs NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1405 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GAGATTGCAGAAAAAAAATTG 0.328 7 868 --- --- --- --- NTNG1 22854 broad.mit.edu 37 1 107866960 107866960 + Frame_Shift_Del DEL C C - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:107866960delC ENST00000370067.1 + 3 930 c.303delC c.(301-303)cafs p.H101fs NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370061.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370066.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370068.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370070.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370071.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370072.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370074.4_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370073.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370065.1_Frame_Shift_Del_p.H101fs Q9Y2I2 NTNG1_HUMAN netrin G1 101 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AGCTGGCACACCCCCCTGAGC 0.483 7 1361 --- --- --- --- FNDC7 163479 broad.mit.edu 37 1 109276138 109276138 + Frame_Shift_Del DEL A A - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:109276138delA ENST00000370017.3 + 10 2401 c.2124delA c.(2122-2124)ccfs p.P708fs FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 709 Fibronectin type-III 8. extracellular region p.I478fs*4(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTTTCTGTCCAAAAAAAATAT 0.363 8 522 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 17 267 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 11 469 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 12 459 --- --- --- --- PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:154917508_154917510delGGT ENST00000368463.3 - 11 2257_2259 c.2186_2188delACC c.(2185-2190)cgg>c p.HR729del PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.640 11 508 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 10 445 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 7 465 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276374 186276376 + In_Frame_Del DEL CCA CCA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:186276374_186276376delCCA ENST00000445192.2 + 7 1568_1570 c.1523_1525delCCA c.(1522-1527)ccc>c p.PT508del PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.PT465del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT415del|PRG4_ENST00000367483.4_In_Frame_Del_p.PT467del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 508 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.P508H(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GAGCCTGCACCCACCACCACCAA 0.645 12 759 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 7 140 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 9 531 --- --- --- --- KRCC1 51315 broad.mit.edu 37 2 88327535 88327536 + Frame_Shift_Ins INS - - T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:88327535_88327536insT ENST00000347055.3 - 4 940_941 c.547_548insA c.(547-549)ctgfs p.L183fs NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 183 Lys-rich. p.S183fs*7(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 TTCCTCGCAGCTTTTTTTTCTC 0.411 9 887 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 8 383 --- --- --- --- AMER3 205147 broad.mit.edu 37 2 131521308 131521308 + Frame_Shift_Del DEL G G - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:131521308delG ENST00000423981.1 + 2 1773 c.1663delG c.(1663-1665)ggfs p.G556fs AMER3_ENST00000321420.4_Frame_Shift_Del_p.G556fs NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CTCAGATGCAGGGGGGGCGAC 0.711 10 82 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170657516 170657516 + Frame_Shift_Del DEL A A - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:170657516delA ENST00000409333.1 + 2 293 c.46delA c.(46-48)aafs p.K16fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K16fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 16 HTH La-type RNA-binding. histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCTGGAGGCCAAAATCTGTCA 0.333 7 536 --- --- --- --- AC093642.5 0 broad.mit.edu 37 2 243056967 243056967 + RNA DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr2:243056967delT ENST00000456398.1 + 0 413 CAGTGCTATCTTATGAAATAA 0.299 8 38 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 23 341 --- --- --- --- DYNC1LI1 51143 broad.mit.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:32571050delT ENST00000273130.4 - 11 1391 c.1288delA c.(1288-1290)ttfs p.I430fs DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 430 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 TTTGGATCAATTTTTTTTGAC 0.398 8 338 --- --- --- --- ROBO2 6092 broad.mit.edu 37 3 77657038 77657038 + Frame_Shift_Del DEL C C - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:77657038delC ENST00000461745.1 + 21 4126 c.3226delC c.(3226-3228)ccfs p.P1078fs ROBO2_ENST00000487694.3_Frame_Shift_Del_p.P1094fs|ROBO2_ENST00000332191.8_Frame_Shift_Del_p.P1078fs|ROBO2_ENST00000469233.1_3'UTR NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1078 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.V1079fs*22(1)|p.V1095fs*22(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCCTCTACCTCCCCCCCCAGT 0.433 7 373 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:99568272_99568273insT ENST00000331335.5 - 5 2717_2718 c.2247_2248insA c.(2245-2250)aataaafs p.NK749fs CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 749 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TGTTGATTTAGTTTTTTTTGCA 0.406 7 809 --- --- --- --- SLCO2A1 6578 broad.mit.edu 37 3 133670082 133670083 + Frame_Shift_Ins INS - - A rs141736851 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr3:133670082_133670083insA ENST00000310926.4 - 6 1103_1104 c.830_831insT c.(829-831)tttfs p.F277fs SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 277 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CTCGAGGGAAGAAAAAAAAGGG 0.490 7 581 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 8 470 --- --- --- --- ZCCHC4 29063 broad.mit.edu 37 4 25353261 25353261 + Frame_Shift_Del DEL G G - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:25353261delG ENST00000302874.4 + 8 985 c.961delG c.(961-963)aafs p.E321fs ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 321 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) CTATTTTTTTGAATCCCGAAT 0.348 7 627 --- --- --- --- GUF1 60558 broad.mit.edu 37 4 44700615 44700615 + Frame_Shift_Del DEL A A - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:44700615delA ENST00000281543.5 + 17 2121 c.1927delA c.(1927-1929)aafs p.K645fs GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 645 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 AGCAGAAGGGAAAAAAAAGCT 0.328 10 455 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69202891 69202893 + In_Frame_Del DEL TCC TCC - rs141105019 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:69202891_69202893delTCC ENST00000344157.4 - 4 1070_1072 c.735_737delGGA c.(733-738)gaa>ga p.EE247del YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 247 Glu-rich. p.E245E(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ttcttcttcttcctcctcctcct 0.473 10 230 --- --- --- --- C4orf22 255119 broad.mit.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:81791254delA ENST00000358105.3 + 4 490 c.441delA c.(439-441)ggfs p.G147fs C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 147 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 ACTTTACTGGAAAAAAAAGAC 0.373 8 739 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:83785565delT ENST00000432794.1 - 11 1547 c.1384delA c.(1384-1386)ttfs p.I462fs SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 462 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.I462fs*16(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GAAGCATCAATTTTTTTTTGG 0.353 15 423 --- --- --- --- FHDC1 85462 broad.mit.edu 37 4 153896047 153896048 + Frame_Shift_Ins INS - - C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr4:153896047_153896048insC ENST00000511601.1 + 12 1792_1793 c.1604_1605insC c.(1603-1605)aacfs p.N535fs FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.N535fs Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 535 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CGGCCCCCGAACACCCGCCGCT 0.663 12 80 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13919383 13919383 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:13919383delT ENST00000265104.4 - 7 981 c.877delA c.(877-879)gafs p.R293fs NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 293 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGGAGAGTCTTTTTTTCCAG 0.517 Kartagener syndrome 8 1079 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 12 1558 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:121356129_121356130insA ENST00000339397.4 + 6 771_772 c.699_700insA c.(697-702)acaaaafs p.TK233fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TAAGTCAAACCAAAAAAAACAA 0.401 8 596 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 11 898 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 9 1084 --- --- --- --- CPLX2 10814 broad.mit.edu 37 5 175306965 175306967 + In_Frame_Del DEL GAG GAG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:175306965_175306967delGAG ENST00000359546.4 + 5 965_967 c.322_324delGAG c.(322-324)del p.E114del CPLX2_ENST00000515094.1_In_Frame_Del_p.E114del|CPLX2_ENST00000393745.3_In_Frame_Del_p.E114del NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 114 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTGCGGGGACGAGGAGGAGGAGG 0.645 9 160 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 10 20 --- --- --- --- HIST1H1B 3009 broad.mit.edu 37 6 27834859 27834859 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:27834859delT ENST00000331442.3 - 1 500 c.449delA c.(448-450)agfs p.K150fs NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 150 nucleosome assembly nucleosome|nucleus DNA binding p.K150R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CTTCACTGCCTTTTTCGCCCC 0.622 7 1320 --- --- --- --- SLC44A4 80736 broad.mit.edu 37 6 31843636 31843636 + Frame_Shift_Del DEL C C - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:31843636delC ENST00000544672.1 - 4 303 c.7delG c.(7-9)agfs p.E3fs SLC44A4_ENST00000229729.6_Frame_Shift_Del_p.E79fs|SLC44A4_ENST00000375562.4_Frame_Shift_Del_p.E79fs|SLC44A4_ENST00000465707.1_5'UTR NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 79 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) CACTTGTTCTCCCCCATGCCA 0.602 7 1764 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 9 34 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34826124 34826124 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:34826124delT ENST00000192788.5 + 14 2162 c.1991delT c.(1990-1992)ctfs p.L664fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 664 p.L666fs*15(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CTGCACATGCTTTTTTTGCAT 0.502 8 1011 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152539540 152539540 + Splice_Site DEL T T - rs35128811 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:152539540delT ENST00000367255.5 - 121 22646 c.e121-2 SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACTCCAGCCTTTTTTTCCAC 0.343 HNSCC(10;0.0054) 7 971 --- --- --- --- IGF2R 3482 broad.mit.edu 37 6 160485487 160485488 + Frame_Shift_Ins INS - - G TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr6:160485487_160485488insG ENST00000356956.1 + 28 4089_4090 c.3941_3942insG c.(3940-3942)aggfs p.R1314fs NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1314 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) ATGAACTTCACGGGGGGGGACA 0.505 18 646 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11871469 11871470 + In_Frame_Ins INS - - GCAGCG TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:11871469_11871470insGCAGCG ENST00000423059.3 - 1 354_355 c.103_104insCGCTGC c.(103-105)cct>CGCTGCcct p.34_35insRC NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 34 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) cagcagcaggagcagcggcagc 0.772 HNSCC(18;0.044) 12 52 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 8 1014 --- --- --- --- RP5-905H7.3 0 broad.mit.edu 37 7 62701951 62701952 + RNA INS - - A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:62701951_62701952insA ENST00000451381.1 - 0 55 CTTTTTTGGAGAAAAAATATAT 0.337 9 8 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 9 457 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100280978 100280980 + In_Frame_Del DEL CTG CTG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:100280978_100280980delCTG ENST00000275732.5 - 18 3349_3351 c.2140_2142delCAG c.(2140-2142)del p.Q714del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 714 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTGCTCCTCCTGCTGCTGCTGG 0.650 8 804 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 11 293 --- --- --- --- TDRP 157695 broad.mit.edu 37 8 494659 494664 + In_Frame_Del DEL GGCGGC GGCGGC - rs71202629 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr8:494659_494664delGGCGGC ENST00000324079.6 - 1 334_339 c.94_99delGCCGCC c.(94-99)del p.AA32del TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del|TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del testis development related protein p.A32_A33delAA(1) CCTGCGCCTGggcggcggcggcggcg 0.782 21 8 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 11 1345 --- --- --- --- CYC1 1537 broad.mit.edu 37 8 145150875 145150876 + Frame_Shift_Ins INS - - C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr8:145150875_145150876insC ENST00000318911.4 + 2 342_343 c.269_270insC c.(268-270)cccfs p.P90fs NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 90 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGAGCTGCACCCCCCCAGCT 0.668 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 458 --- --- --- --- RLN2 6019 broad.mit.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - - A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:5304560_5304561insA ENST00000381627.3 - 1 408_409 c.20_21insT c.(19-21)tcafs p.S7fs RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 7 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGCAGGTGGAAAAAAAACAG 0.535 7 668 --- --- --- --- RANBP6 26953 broad.mit.edu 37 9 6012690 6012690 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:6012690delT ENST00000259569.5 - 1 2928 c.2918delA c.(2917-2919)atfs p.N973fs NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 973 protein transport cytoplasm|nucleus binding p.N973fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AGCAATGACATTTTTTTTGGT 0.358 10 633 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 8 963 --- --- --- --- TOPORS 10210 broad.mit.edu 37 9 32542262 32542262 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:32542262delT ENST00000360538.2 - 3 2377 c.2261delA c.(2260-2262)atfs p.N755fs TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 755 Arg-rich.|Interaction with TOP1. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ACTGTGATTATTTTTTTTCCT 0.428 7 770 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906584 35906586 + In_Frame_Del DEL CCA CCA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:35906584_35906586delCCA ENST00000354323.2 + 1 396_398 c.300_302delCCA c.(298-303)ctc>ct p.LH100del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 100 His-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 ctcaccacctccaccaccaccac 0.660 20 62 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 8 747 --- --- --- --- SPATA31D5P 0 broad.mit.edu 37 9 84528612 84528614 + RNA DEL TTG TTG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:84528612_84528614delTTG ENST00000527857.1 + 0 221 NR_026851.1 AGATTCCCTCTTGTTGTTTCCCA 0.389 11 13 --- --- --- --- CNTRL 11064 broad.mit.edu 37 9 123875984 123875985 + Frame_Shift_Ins INS - - A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:123875984_123875985insA ENST00000373855.1 + 10 1587_1588 c.1327_1328insA c.(1327-1329)aaafs p.K443fs CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.K443fs|CNTRL_ENST00000373865.2_Frame_Shift_Ins_p.K443fs Q7Z7A1 CNTRL_HUMAN centriolin 443 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GGAAGACAAAGAAAAAAAAATA 0.322 7 285 --- --- --- --- NUP214 8021 broad.mit.edu 37 9 134003840 134003840 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:134003840delT ENST00000359428.5 + 3 507 c.363delT c.(361-363)gcfs p.A121fs NUP214_ENST00000411637.2_Frame_Shift_Del_p.A121fs|NUP214_ENST00000451030.1_Frame_Shift_Del_p.A121fs P35658 NU214_HUMAN nucleoporin 214kDa 121 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CCATTATTGCTTTTTTTGATG 0.398 T """DEK, SET, ABL1""" """AML, T-ALL""" 8 738 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 8 121 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 11 396 --- --- --- --- NT5C2 22978 broad.mit.edu 37 10 104849436 104849438 + In_Frame_Del DEL TCC TCC - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:104849436_104849438delTCC ENST00000343289.5 - 18 1764_1766 c.1677_1679delGGA c.(1675-1680)gaa>ga p.EE559del NT5C2_ENST00000423468.2_In_Frame_Del_p.EE530del|NT5C2_ENST00000404739.3_In_Frame_Del_p.EE559del|NT5C2_ENST00000369857.4_5'UTR NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 559 Asp/Glu-rich (acidic). purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) tccttattcttcctcctcctcct 0.502 8 214 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 8 497 --- --- --- --- KCNA4 3739 broad.mit.edu 37 11 30033831 30033833 + In_Frame_Del DEL TCC TCC - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:30033831_30033833delTCC ENST00000328224.6 - 2 1626_1628 c.393_395delGGA c.(391-396)gaa>ga p.EE135del NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 135 Poly-Glu. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ttcctcctcttcctcctcctcct 0.562 7 175 --- --- --- --- CSTF3 1479 broad.mit.edu 37 11 33117910 33117910 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:33117910delT ENST00000323959.4 - 15 1456 c.1317delA c.(1315-1317)aafs p.K439fs TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 439 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 TGTCTCCATATTTTTTTAGCC 0.323 7 471 --- --- --- --- RP11-430H10.4 0 broad.mit.edu 37 11 45433337 45433337 + RNA DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:45433337delT ENST00000528445.1 - 0 535 CTTCCCAGTATTCGATTTCCT 0.507 2 4 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 8 1058 --- --- --- --- OR6C74 254783 broad.mit.edu 37 12 55641157 55641157 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:55641157delT ENST00000343870.4 + 1 176 c.86delT c.(85-87)ctfs p.L29fs NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTTCTTCTCCTTTTTTTCACC 0.378 10 703 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113707611 113707613 + In_Frame_Del DEL CTG CTG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:113707611_113707613delCTG ENST00000550785.1 + 8 1094_1096 c.925_927delCTG c.(925-927)del p.L312del TPCN1_ENST00000541517.1_In_Frame_Del_p.L312del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L172del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L240del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 240 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.L237L(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGACATCCTCCTGCTGCTGCTGT 0.601 8 735 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 220 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 9 796 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52796688 52796688 + RNA DEL C C - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr13:52796688delC ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA cgctattgctccccacccatc 0.537 13 43 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr13:88329794_88329796delCGG ENST00000325089.6 + 2 2370_2372 c.2151_2153delCGG c.(2149-2154)tac>ta p.YG717del SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 717 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGCGTGTACGGCGGCGGCGGC 0.645 8 351 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21991334 21991336 + In_Frame_Del DEL GGT GGT - rs113881459 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:21991334_21991336delGGT ENST00000327430.3 - 2 2820_2822 c.2526_2528delACC c.(2524-2529)cct>cc p.PP842del SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 842 Poly-Pro. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CAGGCTGTCAGGTGGTGGTGGTG 0.571 8 574 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - rs143681767 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:45645955delA ENST00000267430.5 + 14 4083 c.3998delA c.(3997-3999)cafs p.Q1333fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1333 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTACCAGTGCAAAAAAAAGTT 0.328 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 360 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 9 206 --- --- --- --- TTC8 123016 broad.mit.edu 37 14 89338724 89338726 + In_Frame_Del DEL CAA CAA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:89338724_89338726delCAA ENST00000338104.6 + 13 1375_1377 c.1323_1325delCAA c.(1321-1326)gtc>gt p.VN441del TTC8_ENST00000345383.5_In_Frame_Del_p.VN415del|TTC8_ENST00000354441.6_In_Frame_Del_p.VN160del|TTC8_ENST00000380656.2_In_Frame_Del_p.VN425del|TTC8_ENST00000358622.5_In_Frame_Del_p.VN227del|TTC8_ENST00000536576.1_In_Frame_Del_p.VN186del|TTC8_ENST00000346301.4_In_Frame_Del_p.VN385del Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 451 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGGCTCTGGTCAACAACAACAAC 0.537 7 587 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 15 408 --- --- --- --- IGHJ6 0 broad.mit.edu 37 14 106329451 106329453 + RNA DEL GTA GTA - rs2338628 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr14:106329451_106329453delGTA ENST00000390560.2 - 0 15_17 AGACGTCCATGTAGTAGTAGTAG 0.537 9 710 --- --- --- --- OCA2 4948 broad.mit.edu 37 15 28200305 28200305 + Splice_Site DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr15:28200305delT ENST00000354638.3 - 17 1996 c.1842_splice c.e17+1 p.K614_splice OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 614 K -> E (in OCA2).|K -> N (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTGGGTACCTTTTTTTGGAG 0.443 Oculocutaneous Albinism 9 869 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr15:40282508delT ENST00000263791.5 + 16 2604 c.2561delT c.(2560-2562)atfs p.I854fs EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 10 1142 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 9 474 --- --- --- --- NPIPA1 9284 broad.mit.edu 37 16 15045828 15045829 + Frame_Shift_Del DEL GT GT - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:15045828_15045829delGT ENST00000328085.6 + 8 999_1000 c.999_1000delGT c.(997-1002)gagtfs p.EC333fs NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 CACCTCCCGAGTGTGTCTGCTC 0.455 10 1335 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 7 1309 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30977316 30977317 + Frame_Shift_Ins INS - - C TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:30977316_30977317insC ENST00000262519.8 + 8 2800_2801 c.2114_2115insC c.(2113-2115)gccfs p.A705fs NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 705 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GCCTCAGCTGGCCCCCCCGGTG 0.644 7 609 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 8 230 --- --- --- --- NLRP1 22861 broad.mit.edu 37 17 5463340 5463341 + Frame_Shift_Del DEL TC TC - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:5463340_5463341delTC ENST00000345221.3 - 4 1229_1230 c.675_676delGA c.(673-678)gaaafs p.EK225fs NLRP1_ENST00000572272.1_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000571307.1_5'UTR NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 225 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TTCTCTGATTTCTCTCTCTCTC 0.480 7 153 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 9 1157 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - rs59627144 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:7751859_7751861delCAC ENST00000254846.5 + 11 2642_2644 c.2253_2255delCAC c.(2251-2256)gtc>gt p.VT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccacc 0.650 7 145 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 10 127 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 8 322 --- --- --- --- TBCD 6904 broad.mit.edu 37 17 80726352 80726352 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr17:80726352delT ENST00000355528.4 + 5 622 c.492delT c.(490-492)ccfs p.P164fs TBCD_ENST00000539345.2_Frame_Shift_Del_p.P164fs|TBCD_ENST00000397466.2_5'UTR NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 164 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GCCTGATCCCTTTTGATTTTT 0.473 8 1069 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 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 8 334 --- --- --- --- LAMA3 3909 broad.mit.edu 37 18 21426313 21426313 + Frame_Shift_Del DEL T T - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr18:21426313delT ENST00000313654.9 + 31 4013 c.3772delT c.(3772-3774)ttfs p.F1258fs LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1258 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGGTGGCCTTTTACCACAA 0.622 7 681 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 9 219 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 8 248 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 8 1035 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 10 1207 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 7 715 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 7 612 --- --- --- --- MIR525 0 broad.mit.edu 37 19 54200830 54200830 + RNA DEL A A - rs80268200 TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:54200830delA ENST00000384978.1 + 0 44 NR_030192.1 CTCTTATGTGAAAAAAAAGAA 0.423 8 645 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55143067 55143068 + Frame_Shift_Ins INS - - A TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr19:55143067_55143068insA ENST00000396331.1 + 5 544_545 c.187_188insA c.(187-189)aaafs p.K63fs LILRB1_ENST00000427581.2_Frame_Shift_Ins_p.K99fs|LILRB1_ENST00000418536.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000434867.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396332.4_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000324602.7_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396315.1_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396327.3_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000448689.1_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396321.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396317.1_Frame_Shift_Ins_p.K63fs NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 63 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCTATATAGAGAAAAGAAAACA 0.569 HNSCC(37;0.09) 83 569 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 9 92 --- --- --- --- ASXL1 171023 broad.mit.edu 37 20 31022442 31022442 + Frame_Shift_Del DEL G G - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:31022442delG ENST00000375687.4 + 13 2351 c.1927delG c.(1927-1929)ggfs p.G646fs ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G641fs NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 646 Gly-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.G643fs*15(3)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 TGCCATCGGAGGGGGGGGTGG 0.692 """F, N, Mis""" """MDS, CMML""" 7 102 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50408346 50408348 + In_Frame_Del DEL GCT GCT - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr20:50408346_50408348delGCT ENST00000217086.4 - 2 785_787 c.674_676delAGC c.(673-678)cta>c p.QL225del SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_In_Frame_Del_p.QL225del NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 225 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATCTGCTGTAGCTGCTGCTGCTG 0.645 10 345 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 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 8 511 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:38120029_38120031delCCT ENST00000406386.3 + 7 1721_1723 c.1466_1468delCCT c.(1465-1470)gcc>g p.AS489del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 489 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 8 424 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAA 0.596 7 756 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chr22:38471034_38471036delGGA ENST00000404072.3 + 13 1490_1492 c.1143_1145delGGA c.(1141-1146)ggg>gg p.GE381del PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 381 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) TCACAGATGGggaggaggaggag 0.635 13 182 --- --- --- --- FAM155B 27112 broad.mit.edu 37 X 68725672 68725672 + Frame_Shift_Del DEL A A - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chrX:68725672delA ENST00000252338.4 + 1 589 c.547delA c.(547-549)aafs p.K184fs NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 184 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 CCCCTCCGCCAAAAAAAACTT 0.592 7 206 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 12 487 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf08adf-ece6-4625-8279-2994b8acb873 165d0321-64d0-4625-be7b-5c3403120bd9 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 7 375 --- --- --- ---