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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 9 98 0 0 1 0 0 BFSP1 631 broad.mit.edu 37 20 17474942 17474942 + Missense_Mutation SNP G G A rs145703098 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:17474942G>A ENST00000377873.3 - 8 1814 c.1775C>T c.(1774-1776)gCg>gTg p.A592V BFSP1_ENST00000377868.2_Missense_Mutation_p.A467V|BFSP1_ENST00000544874.1_Missense_Mutation_p.A453V|BFSP1_ENST00000536626.1_Missense_Mutation_p.A453V NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 592 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 CTGATCAGCCGCAGGCTTTGG 0.577000 5 611 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 10 1309 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145311839 145311839 + Missense_Mutation SNP A A T rs58277049 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:145311839A>T ENST00000369338.1 + 10 1278 c.1088A>T c.(1087-1089)cAg>cTg p.Q363L NBPF10_ENST00000342960.5_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Intron A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 636 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAGGACTCACAGGATAGATGT 0.473000 5 576 0 0 1 0 0 HMGB1 3146 broad.mit.edu 37 13 31035512 31035512 + Missense_Mutation SNP T T A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:31035512T>A ENST00000405805.1 - 5 1570 c.630A>T c.(628-630)gaA>gaT p.E210D HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D P09429 HMGB1_HUMAN high mobility group box 1 210 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CATCAtcatcttcttcttcat 0.378000 8 184 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102516294 102516294 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:102516294C>T ENST00000421544.1 + 16 3125 c.2635C>T c.(2635-2637)Cca>Tca p.P879S GRIK2_ENST00000369137.3_Missense_Mutation_p.P803S|GRIK2_ENST00000369134.4_Missense_Mutation_p.P830S|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000413795.1_3'UTR NM_021956.4 NP_068775.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 879 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AAAACATAAGCCACAGGCCCC 0.423000 22 300 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123779129 123779129 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chrX:123779129G>A ENST00000422452.2 - 10 1803 c.1740C>T c.(1738-1740)tgC>tgT p.C580C TENM1_ENST00000371130.3_Silent_p.C580C NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGCCATGCCGGCAGACACAGT 0.507000 6 622 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48539196 48539196 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr15:48539196G>A ENST00000396577.3 + 12 1758 c.1543G>A c.(1543-1545)Gca>Aca p.A515T SLC12A1_ENST00000558405.1_Missense_Mutation_p.A515T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A515T NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 515 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CCTTGTCAGCGCACCCAAAGT 0.498000 6 740 0 0 1 0 0 CLEC12A 160364 broad.mit.edu 37 12 10131591 10131591 + Missense_Mutation SNP C C T rs141455664 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:10131591C>T ENST00000304361.4 + 2 300 c.118C>T c.(118-120)Cgt>Tgt p.R40C CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000350667.4_Intron NM_138337.5|NM_201623.3 NP_612210.4|NP_963917.2 Q5QGZ9 CL12A_HUMAN C-type lectin domain family 12, member A 40 integral to membrane|plasma membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 16 TCATGTATGGCGTCCAGCAGC 0.433000 29 404 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 6 316 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 6 290 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79032394 79032394 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:79032394C>T ENST00000446378.2 + 2 7837 c.7806C>T c.(7804-7806)ctC>ctT p.L2602L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2602 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) AAGCCATGCTCGCAGAGGCTC 0.398000 18 173 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24087156 24087156 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr22:24087156C>T ENST00000341976.3 - 2 632 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 58 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TCATTTTCTTCGTCCTGCTCA 0.507000 31 418 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179483095 179483095 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:179483095C>T ENST00000589042.1 - 252 47314 c.47090G>A c.(47089-47091)cGt>cAt p.R15697H TTN_ENST00000359218.5_Missense_Mutation_p.R6757H|TTN_ENST00000342992.6_Missense_Mutation_p.R13129H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14056H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6824H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6632H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14056 Ig-like 98. 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) CTTAATGTCACGTCTTTCAAC 0.438000 11 257 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49094328 49094328 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:49094328C>T ENST00000395443.2 - 3 1777 c.1305G>A c.(1303-1305)caG>caA p.Q435Q QRICH1_ENST00000424300.1_Silent_p.Q435Q|QRICH1_ENST00000357496.2_Silent_p.Q435Q|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 435 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) gctgctgctgctgtggtggtg 0.562000 6 247 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825327 196825327 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:196825327G>A ENST00000312428.6 - 18 2648 c.2548C>T c.(2548-2550)Cgc>Tgc p.R850C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 850 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R850C(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGCCTGGGGCGCAAACCAGGA 0.453000 5 465 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125035751 125035751 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:125035751G>A ENST00000522917.1 + 18 2407 c.2201G>A c.(2200-2202)cGc>cAc p.R734H FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 734 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCCTATGCCCGCATCGCCTCC 0.527000 6 403 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 7 221 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228865 142228865 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:142228865C>T ENST00000519067.1 - 4 1024 c.721G>A c.(721-723)Gag>Aag p.E241K SLC45A4_ENST00000517878.1_Missense_Mutation_p.E292K|SLC45A4_ENST00000433583.2_Missense_Mutation_p.E234K|SLC45A4_ENST00000024061.3_Missense_Mutation_p.E241K Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 292 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) AGGGCCAGCTCGTGCTCCGAC 0.701000 57 785 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33120306 33120306 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:33120306C>T ENST00000323959.4 - 13 1197 c.1058G>A c.(1057-1059)cGc>cAc p.R353H TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 353 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 ATACTTCATGCGACTCTAAGG 0.398000 5 677 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H 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 6 623 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35202432 35202432 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr15:35202432C>T ENST00000156471.5 - 17 1792 c.1567G>A c.(1567-1569)Gcc>Acc p.A523T NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 523 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TTGGGTTTGGCCACTTCAACG 0.473000 7 523 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36358981 36358981 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:36358981C>T ENST00000312412.4 - 6 709 c.710G>A c.(709-711)cGc>cAc p.R237H RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H kidney(1)|lung(3) 4 AACAGGTGTGCGGGCAAACTT 0.353000 5 738 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210558569 210558569 + Missense_Mutation SNP G G C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:210558569G>C ENST00000360351.4 + 7 2181 c.1675G>C c.(1675-1677)Gat>Cat p.D559H MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D555H NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 559 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCTGAGCTTGATATGCCATT 0.368000 23 388 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128147750 128147750 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:128147750G>A ENST00000284694.7 - 6 1876 c.1756C>T c.(1756-1758)Cgc>Tgc p.R586C C10orf90_ENST00000544758.1_Missense_Mutation_p.R683C|C10orf90_ENST00000356858.3_Missense_Mutation_p.R539C|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.R489C NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 586 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TCTTGTGAGCGAGAAATGAAC 0.498000 24 453 0 0 1 0 0 AC093642.5 0 broad.mit.edu 37 2 243037116 243037116 + RNA SNP T T A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:243037116T>A ENST00000456398.1 + 0 248 GCTGGAAGAATTGTGAATCTT 0.398000 6 430 0 0 1 0 0 SS18L1 26039 broad.mit.edu 37 20 60734000 60734000 + Splice_Site SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:60734000T>C ENST00000370848.4 + 1 155 c.e1+2 SS18L1_ENST00000421564.1_Intron|SS18L1_ENST00000331758.3_Intron O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) AGCACGGAGGTCAGATATGTC 0.627000 T SSX1 synovial sarcoma 15 807 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784414 32784414 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:32784414G>A ENST00000342743.5 + 2 598 c.233G>A c.(232-234)cGc>cAc p.R78H NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 78 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 CTGTGGGTCCGCAAATTGCCC 0.597000 6 466 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048549 180048549 + Silent SNP C C G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:180048549C>G ENST00000261937.6 - 13 2091 c.2013G>C c.(2011-2013)tcG>tcC p.S671S FLT4_ENST00000502649.1_Silent_p.S671S|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.S671S NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 671 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CACCCTGCACCGACAGGTACT 0.672000 12 209 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96688465 96688465 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:96688465G>A ENST00000434632.1 - 22 2681 c.2222C>T c.(2221-2223)gCg>gTg p.A741V GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 741 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CTTTGGGTCCGCACACTCTGG 0.557000 6 740 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 8 47 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 7 258 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10586309 10586309 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:10586309G>A ENST00000265012.4 + 1 331 c.87G>A c.(85-87)ccG>ccA p.P29P GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 30 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AATTGAGCCCGCCAAAAAGTT 0.403000 6 703 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16956555 16956555 + RNA SNP C C T rs9329440 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:16956555C>T ENST00000412962.1 - 0 294 CTCTAGGGCCCGCCGCTCACT 0.607000 33 216 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 236619 236619 + Missense_Mutation SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:236619T>C ENST00000264932.6 + 10 1452 c.1337T>C c.(1336-1338)gTa>gCa p.V446A SDHA_ENST00000504309.1_Missense_Mutation_p.V446A|SDHA_ENST00000510361.1_Missense_Mutation_p.V398A NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 446 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TGTGCCTCGGTACATGGTGCC 0.602000 Familial Paragangliomas 8 393 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 6 276 0 0 1 0 0 KIAA0895 23366 broad.mit.edu 37 7 36374693 36374693 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:36374693C>T ENST00000317020.6 - 3 1109 c.809G>A c.(808-810)cGt>cAt p.R270H KIAA0895_ENST00000297063.6_Missense_Mutation_p.R321H|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R218H|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R308H|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R318H|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R76H NM_015314.2 NP_056129.2 Q8NCT3 K0895_HUMAN KIAA0895 321 breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CCAATGCTCACGTGCAGTGGA 0.433000 24 474 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202699041 202699041 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:202699041G>A ENST00000367265.3 - 26 5455 c.4291C>T c.(4291-4293)Cgg>Tgg p.R1431W KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1431 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TTGGGGGTCCGCATTTTCTTA 0.463000 6 869 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 400 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486356 37486356 + Missense_Mutation SNP G G C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:37486356G>C ENST00000374660.1 + 35 2952 c.2853G>C c.(2851-2853)aaG>aaC p.K951N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1000 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 AAATGCAAAAGTCTGTTCCAA 0.308000 9 686 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49094329 49094329 + Missense_Mutation SNP T T G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:49094329T>G ENST00000395443.2 - 3 1776 c.1304A>C c.(1303-1305)cAg>cCg p.Q435P QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 435 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) ctgctgctgctgtggtggtgg 0.562000 5 253 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135447890 135447890 + Missense_Mutation SNP A A C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:135447890A>C ENST00000343036.2 + 7 1004 c.956A>C c.(955-957)cAc>cCc p.H319P C9orf171_ENST00000393216.2_Missense_Mutation_p.H283P NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 319 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 AACTACACCCACCCCTAGCCC 0.597000 12 97 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 228381 228381 + Missense_Mutation SNP A A T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:228381A>T ENST00000264932.6 + 6 818 c.703A>T c.(703-705)Atc>Ttc p.I235F SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 235 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCGTGGTGTCATCGCACTGTG 0.428000 Familial Paragangliomas 5 322 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 5 203 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27761391 27761391 + Missense_Mutation SNP G G T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:27761391G>T ENST00000261588.4 + 16 3129 c.3110G>T c.(3109-3111)gGg>gTg p.G1037V NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1037 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CTCATCGACGGGGTGAACAGG 0.552000 15 230 0.000308642 0.000317938 1 1 0 TSPYL6 388951 broad.mit.edu 37 2 54482353 54482353 + Silent SNP C C A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:54482353C>A ENST00000317802.7 - 1 1056 c.936G>T c.(934-936)gtG>gtT p.V312V ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 312 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 TGACCTCATACACCTTTACAA 0.473000 5 605 0.014758 0.0148448 1 1 0 TRBV6-7 0 broad.mit.edu 37 7 142143906 142143906 + RNA SNP G G C rs146728507 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:142143906G>C ENST00000390373.2 - 0 89 TCTTCAGGACGTGGAATTTTG 0.527000 7 378 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81223250 81223250 + Silent SNP A A G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:81223250A>G ENST00000555265.1 - 18 2974 c.2599T>C c.(2599-2601)Tta>Cta p.L867L CEP128_ENST00000281129.3_Silent_p.L867L Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 867 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 CTTTCTGCTAACCAGCGATGT 0.294000 4 261 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 7 314 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543263 28543263 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:28543263G>A ENST00000452236.2 - 3 1836 c.1219C>T c.(1219-1221)Cgg>Tgg p.R407W NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 407 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTTAATGACCGCAAAAAAGTT 0.373000 5 334 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 5 21 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 6 420 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 194 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 9 329 0 0 1 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100369 27100369 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:27100369C>T ENST00000607124.1 - 1 160 c.161G>A c.(160-162)gGc>gAc p.G54D HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D P06899 H2B1J_HUMAN histone cluster 1, H2bj 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 GGACGAAATGCCGGTGTCAGG 0.547000 6 911 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4513137 4513137 + Missense_Mutation SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr19:4513137T>C ENST00000301286.3 - 3 792 c.793A>G c.(793-795)Atg>Gtg p.M265V NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 265 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GCCACATTCATGGCACCAGTC 0.547000 6 449 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 15 735 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81259286 81259286 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:81259286G>A ENST00000555265.1 - 14 1753 c.1378C>T c.(1378-1380)Cgg>Tgg p.R460W CEP128_ENST00000281129.3_Missense_Mutation_p.R460W Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 460 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 CTGAGGTACCGCTCAGCCTGC 0.542000 5 440 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 7 297 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506765 11506765 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:11506765C>T ENST00000500254.2 - 3 309 c.272G>A c.(271-273)cGa>cAa p.R91Q PRB1_ENST00000545626.1_Missense_Mutation_p.R91Q|PRB1_ENST00000546254.1_Missense_Mutation_p.R91Q NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 274 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGAGGAGATCGGGGACTTCG 0.612000 63 1049 0 0 1 0 0 ZBTB47 92999 broad.mit.edu 37 3 42703100 42703100 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:42703100G>A ENST00000457842.3 + 3 1878 c.469G>A c.(469-471)Gcc>Acc p.A157T ZBTB47_ENST00000232974.6_Missense_Mutation_p.A533T|ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79T NM_145166.3 NP_660149.2 Q9UFB7 ZBT47_HUMAN zinc finger and BTB domain containing 47 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.216) CTACACCATGGCCCACGTGCG 0.522000 17 192 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47856946 47856946 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr21:47856946C>T ENST00000359568.5 + 40 9158 c.9051C>T c.(9049-9051)caC>caT p.H3017H PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 3017 Interaction with NEK2. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CTTTACTGCACACGTTGGAGG 0.557000 28 422 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 7 539 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767447 57767447 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:57767447C>T ENST00000371030.2 + 1 1373 c.1373C>T c.(1372-1374)gCg>gTg p.A458V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 458 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GACATCCGCGCGCTGGAGCCA 0.677000 11 165 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119101232 119101232 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:119101232G>A ENST00000264245.4 + 5 1057 c.525G>A c.(523-525)gcG>gcA p.A175A NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 175 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 TGGTGTGGGCGCCAAACCTCC 0.557000 5 296 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974760 21974760 + Missense_Mutation SNP C C A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:21974760C>A ENST00000304494.5 - 1 337 c.67G>T c.(67-69)Ggt>Tgt p.G23C CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000494262.1_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 23 G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.G23S(1)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCTACCCGACCCCGGGCCGCG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 18 228 1.10923e-09 1.20814e-09 1 1 0 TUSC5 286753 broad.mit.edu 37 17 1183350 1183350 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:1183350G>A ENST00000333813.3 + 1 394 c.55G>A c.(55-57)Gca>Aca p.A19T NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 19 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGCTCCGCCGCATTCCTGGA 0.637000 5 434 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74097340 74097340 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:74097340C>T ENST00000406660.3 - 4 470 c.429G>A c.(427-429)ccG>ccA p.P143P EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000335146.7_Intron|EXOC7_ENST00000589210.1_Intron|EXOC7_ENST00000405575.4_Intron|EXOC7_ENST00000607838.1_Intron Q9UPT5 EXOC7_HUMAN exocyst complex component 7 0 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) CGTTATTCTGCGGACCCCTTA 0.512000 5 442 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81358937 81358937 + Nonsense_Mutation SNP C C A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:81358937C>A ENST00000222390.5 - 8 1250 c.1024G>T c.(1024-1026)Gaa>Taa p.E342* HGF_ENST00000457544.2_Nonsense_Mutation_p.E337* NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 342 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TTGAAATTTTCAGGAGTCATG 0.418000 5 326 1.23904e-05 1.30788e-05 1 1 0 PRKACB 5567 broad.mit.edu 37 1 84668430 84668430 + Missense_Mutation SNP A A G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:84668430A>G ENST00000370689.2 + 8 971 c.707A>G c.(706-708)tAt>tGt p.Y236C PRKACB_ENST00000370685.3_Missense_Mutation_p.Y283C|PRKACB_ENST00000370682.3_Missense_Mutation_p.Y240C|PRKACB_ENST00000394838.2_Missense_Mutation_p.Y243C|PRKACB_ENST00000370680.1_Missense_Mutation_p.Y242C|PRKACB_ENST00000394839.2_Missense_Mutation_p.Y206C|PRKACB_ENST00000370688.3_Missense_Mutation_p.Y236C NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 236 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) GCAGCTGGCTATCCCCCATTC 0.368000 36 484 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65197580 65197580 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:65197580G>A ENST00000247226.7 + 4 770 c.462G>A c.(460-462)cgG>cgA p.R154R PLEKHG3_ENST00000394691.1_Silent_p.R210R NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 210 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TTCGGGACCGGCAGGAGCTGC 0.642000 4 169 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 6 89 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58017973 58017973 + Silent SNP G G A rs149516480 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr19:58017973G>A ENST00000282292.4 + 4 650 c.510G>A c.(508-510)acG>acA p.T170T ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.T169T|ZNF773_ENST00000599847.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 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;0.0254) TGACTCACACGGGAGAGAAGT 0.488000 21 147 0 0 1 0 0 SDCBP 6386 broad.mit.edu 37 8 59484848 59484848 + Missense_Mutation SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:59484848T>C ENST00000523483.1 + 5 1792 c.278T>C c.(277-279)gTg>gCg p.V93A SDCBP_ENST00000424270.2_Missense_Mutation_p.V66A|SDCBP_ENST00000260130.4_Missense_Mutation_p.V72A|SDCBP_ENST00000413219.2_Missense_Mutation_p.V72A|SDCBP_ENST00000447182.2_Missense_Mutation_p.V72A|SDCBP_ENST00000422546.2_Missense_Mutation_p.V72A|SDCBP_ENST00000447267.2_Missense_Mutation_p.V72A|SDCBP_ENST00000520168.1_Missense_Mutation_p.V72A|SDCBP_ENST00000522243.1_3'UTR O00560 SDCB1_HUMAN syndecan binding protein (syntenin) 72 actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 8 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AATGTGGCCGTGGTTTCTGGT 0.363000 36 531 0 0 1 0 0 XPO7 23039 broad.mit.edu 37 8 21848376 21848376 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:21848376C>T ENST00000434536.1 + 18 2116 c.2014C>T c.(2014-2016)Cgg>Tgg p.R672W XPO7_ENST00000252512.9_Missense_Mutation_p.R663W|XPO7_ENST00000433566.4_Missense_Mutation_p.R664W Q9UIA9 XPO7_HUMAN exportin 7 663 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GACAGACATGCGGTGTCGGAC 0.418000 7 902 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65233466 65233466 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:65233466G>A ENST00000389722.3 - 31 6376 c.6323C>T c.(6322-6324)gCg>gTg p.A2108V SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389720.3_Silent_p.C2091C|SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389721.5_Missense_Mutation_p.A2108V NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2108 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCGGTGGCCGCATGGTGGGA 0.592000 6 807 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41341604 41341604 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr15:41341604C>T ENST00000361937.3 - 21 2881 c.2457G>A c.(2455-2457)ccG>ccA p.P819P INO80_ENST00000401393.3_Silent_p.P819P Q9ULG1 INO80_HUMAN INO80 complex subunit 819 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CAAATAACTCCGGGTGATTAC 0.408000 20 339 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) 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) tgctgctactgctgctgctgc 0.532000 T MLL ALL 8 222 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427983 49427983 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:49427983C>T ENST00000301067.7 - 38 10606 c.10607G>A c.(10606-10608)cGc>cAc p.R3536H NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCGGGACTTGCGGTGTACACC 0.557000 6 680 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143907 142143907 + RNA SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:142143907T>C ENST00000390373.2 - 0 88 CTTCAGGACGTGGAATTTTGG 0.527000 7 375 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118984833 118984833 + Missense_Mutation SNP C C T rs148221836 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:118984833C>T ENST00000336702.3 + 13 2029 c.1670C>T c.(1669-1671)gCg>gTg p.A557V C2CD2L_ENST00000528586.1_Missense_Mutation_p.A304V NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 556 integral to membrane p.A557V(2) NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 CTGGGCTATGCGGCATCCCTG 0.612000 6 654 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25435469 25435469 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:25435469C>T ENST00000255324.5 + 27 3890 c.3838C>T c.(3838-3840)Ctg>Ttg p.L1280L RNF17_ENST00000339524.3_Silent_p.L332L|RNF17_ENST00000381921.1_Silent_p.L1280L NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1280 Tudor 3. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCCTATTTTGCTGTATCCTGA 0.318000 46 959 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52994873 52994873 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:52994873G>A ENST00000293745.2 - 1 449 c.364C>T c.(364-366)Cgc>Tgc p.R122C KRT72_ENST00000537672.2_Missense_Mutation_p.R122C|KRT72_ENST00000354310.4_Missense_Mutation_p.R122C|KRT72_ENST00000398066.3_5'UTR NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 122 Head. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TCCTGGGCGCGCACCCTCTGG 0.647000 5 377 0 0 1 0 0 PEX12 5193 broad.mit.edu 37 17 33904476 33904476 + Silent SNP G G A rs61752099 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:33904476G>A ENST00000225873.4 - 2 868 c.261C>T c.(259-261)taC>taT p.Y87Y NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 87 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCTTTAAGCCGTAAAAGTTTT 0.428000 6 1062 0 0 1 0 0 SOCS5 0 broad.mit.edu 37 2 46986955 46986955 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:46986955G>A ENST00000306503.5 + 2 1458 c.1286G>A c.(1285-1287)cGa>cAa p.R429Q SOCS5_ENST00000394861.2_Missense_Mutation_p.R429Q NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 429 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth p.R429L(1)|p.R429Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CTGCATGCCCGAATTGAGCAG 0.498000 14 747 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39127879 39127879 + Missense_Mutation SNP A A T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:39127879A>T ENST00000351578.6 - 11 2061 c.1871T>A c.(1870-1872)aTt>aAt p.I624N FYB_ENST00000540520.1_Missense_Mutation_p.I634N|FYB_ENST00000515010.1_Missense_Mutation_p.I624N|FYB_ENST00000505428.1_Missense_Mutation_p.I624N|FYB_ENST00000512982.1_Missense_Mutation_p.I624N NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 624 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CCCATCATAAATGTCATCATC 0.328000 15 152 0 0 1 0 0 C2orf44 80304 broad.mit.edu 37 2 24262247 24262247 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:24262247G>A ENST00000295148.4 - 2 175 c.118C>T c.(118-120)Cgg>Tgg p.R40W C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 40 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTGAAGCCGCAAATCAGTT 0.507000 T ALK NSCLC 5 397 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 7 378 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2861248 2861248 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:2861248C>T ENST00000397461.1 + 6 821 c.437C>T c.(436-438)cCg>cTg p.P146L CNTN4_ENST00000418658.1_Missense_Mutation_p.P146L|CNTN4_ENST00000427331.1_Missense_Mutation_p.P146L NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 146 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CTGTGTGGCCCGCCACCCCAT 0.448000 14 211 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906577 129906577 + Missense_Mutation SNP G G A rs117795868 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:129906577G>A ENST00000368654.3 - 13 3902 c.3527C>T c.(3526-3528)aCg>aTg p.T1176M MKI67_ENST00000368653.3_Missense_Mutation_p.T816M NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1176 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGTTTGGGCGTAAGCATGGC 0.463000 6 1012 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Nonsense_Mutation SNP C C A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:7577082C>A ENST00000420246.2 - 8 988 c.856G>T c.(856-858)Gaa>Taa p.E286* TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 286 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). 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.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) AGATTCTCTTCCTCTGTGCGC 0.557000 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) 14 152 4.3838e-07 4.68519e-07 1 1 0 FAM71B 153745 broad.mit.edu 37 5 156590151 156590151 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:156590151C>T ENST00000302938.4 - 2 1220 c.1125G>A c.(1123-1125)gcG>gcA p.A375A NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 375 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGCCTGCAAACGCCGCACTCA 0.582000 15 213 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 228396 228396 + Missense_Mutation SNP G G C rs1041946 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:228396G>C ENST00000264932.6 + 6 833 c.718G>C c.(718-720)Gag>Cag p.E240Q SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 240 E -> Q (in dbSNP:rs1041946). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity p.E240Q(2) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ACTGTGCATAGAGGACGGGTC 0.418000 Familial Paragangliomas 5 334 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430078 179430078 + Silent SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:179430078G>A ENST00000589042.1 - 326 81005 c.80781C>T c.(80779-80781)aaC>aaT p.N26927N TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25286 Fibronectin type-III 96. 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) TTTCTTCAACGTTTACTCTTG 0.393000 39 670 0 0 1 0 0 RASSF4 83937 broad.mit.edu 37 10 45467292 45467292 + Missense_Mutation SNP G G A rs61759871 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:45467292G>A ENST00000340258.4 + 3 247 c.134G>A c.(133-135)cGt>cAt p.R45H RASSF4_ENST00000374417.2_Missense_Mutation_p.R45H|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_3'UTR|C10orf10_ENST00000496638.1_Intron NM_032023.3 NP_114412.2 Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 45 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CTGAGACACCGTGAGGTGAGC 0.522000 17 222 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65820570 65820570 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:65820570G>A ENST00000528302.1 + 3 307 c.253G>A c.(253-255)Gca>Aca p.A85T SF3B2_ENST00000322535.6_Missense_Mutation_p.A85T Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 85 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 TCCCATGTCGGCACAGGTAGG 0.493000 6 771 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 9 200 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V 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) 18 311 3.32936e-07 3.58063e-07 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 5 481 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14787073 14787073 + Missense_Mutation SNP G G T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr18:14787073G>T ENST00000358984.4 + 15 1888 c.1708G>T c.(1708-1710)Gat>Tat p.D570Y ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 570 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ACAAAAGGACGATGAAGAAAA 0.289000 6 271 0.00116845 0.00119643 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 5 208 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146480607 146480607 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:146480607G>A ENST00000392299.2 + 3 1294 c.824G>A c.(823-825)cGc>cAc p.R275H GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 275 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R275H(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CGACTCTTGCGCAAACTCCGA 0.577000 4 215 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 11 205 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23866789 23866789 + Missense_Mutation SNP T T C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:23866789T>C ENST00000405093.3 - 16 1995 c.1925A>G c.(1924-1926)aAg>aGg p.K642R MYH6_ENST00000356287.3_Missense_Mutation_p.K642R NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 642 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGATGAGCCCTTTTTCTTGCC 0.557000 5 643 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21562246 21562246 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:21562246C>T ENST00000382592.4 - 4 2078 c.1673G>A c.(1672-1674)cGc>cAc p.R558H LATS2_ENST00000542899.1_Missense_Mutation_p.R558H NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 558 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.R558H(3) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GGCGCTTTTGCGGCTCTTGTC 0.612000 6 488 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134993945 134993945 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chrX:134993945C>T ENST00000535938.1 + 18 2521 c.2354C>T c.(2353-2355)gCg>gTg p.A785V SAGE1_ENST00000537770.1_Missense_Mutation_p.A409V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A785V|SAGE1_ENST00000370709.3_Missense_Mutation_p.A785V NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 785 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AATGAATTTGCGGTAGGCACC 0.443000 5 566 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24788372 24788372 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:24788372G>A ENST00000310677.4 - 24 3001 c.2888C>T c.(2887-2889)gCc>gTc p.A963V ADCY4_ENST00000554068.2_Missense_Mutation_p.A963V|ADCY4_ENST00000418030.2_Missense_Mutation_p.A963V NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 963 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CAGGGCCACGGCAAATTCCAC 0.592000 5 434 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47259552 47259552 + Splice_Site SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:47259552G>A ENST00000256996.4 + 8 1383 c.1188_splice c.e8+1 p.S396_splice DDB2_ENST00000378600.3_Splice_Site_p.S207_splice|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332_splice NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 396 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 GCATCAGTTCGGTGAGGCTTG 0.463000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 253 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89864367 89864367 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr15:89864367G>A ENST00000268124.5 - 17 3056 c.2723C>T c.(2722-2724)gCc>gTc p.A908V POLG_ENST00000442287.2_Missense_Mutation_p.A908V NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 908 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) ATGCATGCCGGCAAAGTGGGC 0.582000 DNA polymerases (catalytic subunits) 6 656 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71103607 71103607 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:71103607C>T ENST00000448642.2 + 7 582 c.193C>T c.(193-195)Cgg>Tgg p.R65W HK1_ENST00000298649.3_Missense_Mutation_p.R29W|HK1_ENST00000359426.6_Missense_Mutation_p.R30W|HK1_ENST00000404387.2_Missense_Mutation_p.R34W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R18W P19367 HXK1_HUMAN hexokinase 1 30 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity p.R34W(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 CTATGCCATGCGGCTCTCCGA 0.527000 6 693 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617645 100617645 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:100617645G>A ENST00000267294.4 - 2 2211 c.1978C>T c.(1978-1980)Cgg>Tgg p.R660W NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 660 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGTATCGTCCGCACAACTTCA 0.483000 5 434 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274426 39274426 + Missense_Mutation SNP T T A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:39274426T>A ENST00000391413.2 - 1 180 c.142A>T c.(142-144)Agc>Tgc p.S48C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CTGCAGCAGCTGGACACACAG 0.672000 6 276 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011526 46011526 + Silent SNP T T A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr21:46011526T>A ENST00000400368.1 - 1 860 c.840A>T c.(838-840)acA>acT p.T280T TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 280 29 X 5 AA repeats of C-C-X(3). keratin filament p.T280T(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGCATGATGTGGAAGCCC 0.652000 5 522 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32108081 32108081 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:32108081C>T ENST00000438447.1 + 25 8748 c.8360C>T c.(8359-8361)gCg>gTg p.A2787V CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_Missense_Mutation_p.A2787V O15018 PDZD2_HUMAN PDZ domain containing 2 2787 PDZ 6. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTAGGTGGTGCGGCTGAACAA 0.348000 6 474 0 0 1 0 0 HVCN1 84329 broad.mit.edu 37 12 111088053 111088053 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:111088053G>A ENST00000356742.5 - 6 1429 c.676C>T c.(676-678)Cgg>Tgg p.R226W HVCN1_ENST00000242607.8_Missense_Mutation_p.R226W|HVCN1_ENST00000548312.1_Missense_Mutation_p.R226W|HVCN1_ENST00000439744.2_Missense_Mutation_p.R206W Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 226 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 AAGAGTTGCCGTTCTGAACGT 0.398000 5 405 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677537 100677537 + Missense_Mutation SNP C C G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:100677537C>G ENST00000306151.4 + 3 2904 c.2840C>G c.(2839-2841)aCt>aGt p.T947S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 947 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTTTCAGCAACTCCTGTTGAC 0.507000 83 1397 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056428 48056428 + Silent SNP A A G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr15:48056428A>G ENST00000316364.5 + 11 1462 c.1023A>G c.(1021-1023)aaA>aaG p.K341K SEMA6D_ENST00000558014.1_Silent_p.K341K|SEMA6D_ENST00000389425.3_Silent_p.K341K|SEMA6D_ENST00000558816.1_Silent_p.K341K|SEMA6D_ENST00000354744.4_Silent_p.K341K|SEMA6D_ENST00000389433.2_Silent_p.K341K|SEMA6D_ENST00000358066.4_Silent_p.K341K|SEMA6D_ENST00000536845.2_Silent_p.K341K|SEMA6D_ENST00000389428.3_Silent_p.K341K|SEMA6D_ENST00000355997.3_Silent_p.K341K|SEMA6D_ENST00000389432.2_Silent_p.K341K|SEMA6D_ENST00000537942.1_Silent_p.K341K NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 341 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AAGTATTCAAAGGACGGTTTA 0.413000 24 388 0 0 1 0 0 FCN1 2219 broad.mit.edu 37 9 137803031 137803031 + Silent SNP G G A rs145090957 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:137803031G>A ENST00000371806.3 - 8 772 c.681C>T c.(679-681)gaC>gaT p.D227D NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 227 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TCTCTGCCTCGTCAGCCACCT 0.547000 70 1086 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100465514 100465514 + Silent SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:100465514C>T ENST00000200457.4 + 2 501 c.141C>T c.(139-141)tgC>tgT p.C47C NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 47 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) TCAATTTTTGCCCCCTTCCAT 0.622000 5 600 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110822921 110822921 + Missense_Mutation SNP C C T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:110822921C>T ENST00000375820.4 - 42 3836 c.3715G>A c.(3715-3717)Gga>Aga p.G1239R NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1239 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCCTGAGGTCCGCGGTCTCCT 0.627000 4 101 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G G T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:39305619G>T ENST00000343246.4 - 1 435 c.401C>A c.(400-402)tCt>tAt p.S134Y NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 139 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament p.S134Y(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.637000 6 126 8.12818e-05 8.52711e-05 1 1 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 8 316 --- --- --- --- CLSTN1 22883 broad.mit.edu 37 1 9790640 9790642 + In_Frame_Del DEL CCT CCT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:9790640_9790642delCCT ENST00000377298.4 - 19 3662_3664 c.2870_2872delAGG c.(2869-2874)ggg>g p.EG957del CLSTN1_ENST00000377288.3_In_Frame_Del_p.EG938del|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_In_Frame_Del_p.EG947del NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 957 Glu-rich (highly acidic). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CCCTGCTCCCCCTCCTCCTCCTC 0.645 7 326 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 15 341 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 7 426 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 11 314 --- --- --- --- NRD1 4898 broad.mit.edu 37 1 52290962 52290962 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:52290962delA ENST00000354831.7 - 8 1426 c.1237delT c.(1237-1239)ggfs p.W413fs NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 344 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ATCTTACCCCAAAAAAATTTT 0.318 9 1003 --- --- --- --- HIAT1 64645 broad.mit.edu 37 1 100534121 100534122 + Frame_Shift_Ins INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:100534121_100534122insT ENST00000370152.3 + 7 934_935 c.798_799insT c.(796-801)agttttfs p.SF266fs RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 266 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) AATATTCCAGCTTTTTTTTATA 0.386 8 523 --- --- --- --- EPS8L3 79574 broad.mit.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:110300579_110300580insT ENST00000369805.3 - 9 1050_1051 c.821_822insA c.(820-822)aaafs p.K274fs EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 273 cytoplasm protein binding p.N274fs*33(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCTGGTCCTTGTTTTTTTTCCC 0.545 11 553 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 17 70 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 9 671 --- --- --- --- MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gac>ga p.ED171del MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 7 399 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)aafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 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 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 12 2427 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 16 1101 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000515643.1_5'UTR NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 9 627 --- --- --- --- PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 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 7 429 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201029886 201029886 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:201029886delT ENST00000362061.3 - 26 3540 c.3314delA c.(3313-3315)acfs p.N1105fs CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.N1105fs NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1105 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTGGTATGGGTTTTTGGGAAT 0.532 7 1431 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226567647 226567647 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:226567647delT ENST00000366794.5 - 10 1662 c.1519delA c.(1519-1521)gcfs p.S507fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 507 Automodification domain. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TGGCCCTTGCTTTTTTTGGAG 0.607 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 10 804 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 10 426 --- --- --- --- ADSS 159 broad.mit.edu 37 1 244595877 244595877 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr1:244595877delT ENST00000366535.3 - 4 692 c.376delA c.(376-378)ggfs p.R126fs NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 126 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) ATAATAAGCCTTTTTTCCCAG 0.249 7 729 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:39213243delT ENST00000426016.1 - 24 3810 c.3724delA c.(3724-3726)gtfs p.S1242fs SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 Noonan syndrome 7 387 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63283259 63283261 + In_Frame_Del DEL CCA CCA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:63283259_63283261delCCA ENST00000366671.3 + 5 1149_1151 c.873_875delCCA c.(871-876)ggc>gg p.GH291del OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 291 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) AGTCCTCAGGccaccaccaccac 0.640 8 296 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 11 772 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 7 663 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 7 155 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CACACTTCTAGTTTTTTTTTAA 0.317 8 233 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649614 197649614 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:197649614delT ENST00000263956.3 - 8 1170 c.1081delA c.(1081-1083)ctfs p.T361fs GTF3C3_ENST00000409364.3_Frame_Shift_Del_p.T361fs NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 361 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TCTTCTGAAGTTTTTTTTTCC 0.338 7 272 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAGAAGTTCAAAAAAAATTA 0.348 8 466 --- --- --- --- CRYGEP 0 broad.mit.edu 37 2 208976866 208976867 + RNA DEL AA AA - rs35642558 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:208976866_208976867delAA ENST00000440809.1 - 0 243 AGGAAAAGAGAATATAGTTAGA 0.426 3 3 --- --- --- --- AAMP 14 broad.mit.edu 37 2 219134766 219134766 + Frame_Shift_Del DEL G G - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:219134766delG ENST00000248450.4 - 1 214 c.44delC c.(43-45)cafs p.P15fs AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs Q13685 AAMP_HUMAN angio-associated, migratory cell protein 15 angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration cell surface|cytoplasm|plasma membrane heparin binding p.L16fs*9(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1) 11 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCTCCAGTGGGGGGGTGTC 0.617 9 1868 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 10 283 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 7 595 --- --- --- --- CCR4 1233 broad.mit.edu 37 3 32995225 32995225 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:32995225delT ENST00000330953.5 + 2 479 c.311delT c.(310-312)gtfs p.V104fs NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 104 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 GACCAGTGGGTTTTTGGGCTA 0.478 7 1071 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 8 201 --- --- --- --- DZIP3 9666 broad.mit.edu 37 3 108363319 108363319 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:108363319delA ENST00000361582.3 + 14 1680 c.1450delA c.(1450-1452)aafs p.K485fs DZIP3_ENST00000463306.1_Frame_Shift_Del_p.K485fs NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 485 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CCCTGCACCCAAAAAAGGATG 0.408 8 661 --- --- --- --- SLC9C1 285335 broad.mit.edu 37 3 112005609 112005610 + Frame_Shift_Ins INS - - A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:112005609_112005610insA ENST00000305815.5 - 2 281_282 c.29_30insT c.(28-30)tagfs p.*10fs SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.*10fs|SLC9C1_ENST00000467397.1_5'UTR NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 10 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CCTCAGTACTGAAAAAAAACTC 0.351 7 218 --- --- --- --- UROC1 131669 broad.mit.edu 37 3 126220106 126220106 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:126220106delT ENST00000290868.2 - 10 973 c.920delA c.(919-921)agfs p.K307fs UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 307 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GAGCACCTCCTTTTTTTTCCT 0.587 7 1077 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 7 513 --- --- --- --- SEC62 7095 broad.mit.edu 37 3 169700663 169700664 + Frame_Shift_Ins INS - - A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:169700663_169700664insA ENST00000337002.4 + 4 478_479 c.420_421insA c.(418-423)gaaaaafs p.EK140fs SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 140 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 aagaaaaagagaaaaaaaaaga 0.277 8 127 --- --- --- --- RP11-324C10.1 0 broad.mit.edu 37 3 172992494 172992494 + RNA DEL C C - rs79222726 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr3:172992494delC ENST00000447709.1 + 0 216 aacaaacaaacaaaaacatgt 0.512 16 11 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 8 847 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 10 79 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388580 1388581 + Frame_Shift_Ins INS - - C TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr4:1388580_1388581insC ENST00000324803.4 + 1 3241_3242 c.281_282insC c.(280-282)tcafs p.S94fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 94 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GATGTGGAGTGCCACCTGCTCA 0.658 7 1326 --- --- --- --- LIAS 11019 broad.mit.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr4:39462464delA ENST00000261434.3 + 2 218 c.100delA c.(100-102)aafs p.K36fs LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 36 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding p.K36fs*31(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) CTTGCCAGATAAAAAAAAGGA 0.393 8 764 --- --- --- --- ANTXR2 118429 broad.mit.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - rs12647691 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr4:80905990delC ENST00000403729.2 - 13 1594 c.1069delG c.(1069-1071)ccfs p.A357fs ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.A357fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.A254fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.A280fs NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 357 Poly-Pro. A -> P (in dbSNP:rs12647691). endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 GGTGCAGGGGCGGGTGGTGGT 0.348 Juvenile Hyaline Fibromatosis 7 68 --- --- --- --- CDS1 1040 broad.mit.edu 37 4 85556475 85556475 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr4:85556475delT ENST00000295887.5 + 8 1204 c.781delT c.(781-783)ttfs p.F263fs NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 263 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) CCTTTTTGGATTTTTTTTTGG 0.308 13 397 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16694606 16694606 + Frame_Shift_Del DEL C C - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:16694606delC ENST00000513610.1 - 27 4128 c.3674delG c.(3673-3675)gcfs p.G1225fs MYO10_ENST00000427430.2_Frame_Shift_Del_p.G582fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.G564fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.G564fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.G582fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1225 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.S1226fs*25(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CGTGGAGGAGCCCCCCCCTTT 0.562 8 623 --- --- --- --- ERBB2IP 55914 broad.mit.edu 37 5 65349867 65349867 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:65349867delA ENST00000284037.5 + 21 3110 c.2721delA c.(2719-2721)ggfs p.G907fs ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 907 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CTGTTGATGGAAAAAATATAG 0.378 7 1773 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 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 9 857 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 9 50 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145886722 145886723 + Frame_Shift_Ins INS - - A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:145886722_145886723insA ENST00000296702.5 + 19 2900_2901 c.2862_2863insA c.(2860-2865)acaaaafs p.TK954fs TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 954 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCACTTACCAAAAAAAAGAG 0.376 9 615 --- --- --- --- KIF4B 285643 broad.mit.edu 37 5 154395466 154395466 + Frame_Shift_Del DEL C C - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:154395466delC ENST00000435029.4 + 1 2207 c.2047delC c.(2047-2049)aafs p.Q683fs NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 683 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCGTAAGAGGCAATATGAGCT 0.423 34 550 --- --- --- --- CPLX2 10814 broad.mit.edu 37 5 175306965 175306967 + In_Frame_Del DEL GAG GAG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 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 8 126 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 12 15 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 7 836 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 7 157 --- --- --- --- HSP90AB1 3326 broad.mit.edu 37 6 44221052 44221052 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:44221052delT ENST00000371554.1 + 11 2216 c.2002delT c.(2002-2004)ttfs p.F668fs HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 668 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATCTTCTGGCTTTTCCCTTGA 0.527 8 1816 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 12 335 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 8 944 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 8 470 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111709251 111709251 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:111709251delT ENST00000435970.1 - 10 1482 c.666delA c.(664-666)aafs p.K222fs REV3L_ENST00000368802.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.K300fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 300 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTTCTGAAATTTTTTTTCAC 0.284 DNA polymerases (catalytic subunits) 8 425 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCTCCTTTTGTTTTTTTTCCC 0.644 7 805 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 12 328 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 11 641 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 9 1314 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 9 24 --- --- --- --- SGK223 0 broad.mit.edu 37 8 8234868 8234869 + In_Frame_Ins INS - - GCCGCT rs59372311 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:8234868_8234869insGCCGCT ENST00000520004.1 - 3 1314_1315 c.1050_1051insAGCGGC c.(1048-1053)ggccag>ggAGCGGCccag p.350_351GQ>GAAQ SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ Q86YV5 SG223_HUMAN 350 ATP binding|non-membrane spanning protein tyrosine kinase activity p.G350_A351insSG(1)|p.G350_S351insSG(1) GGGCTACTGGCGCCGCTGCCGC 0.653 10 52 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 9 275 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 8 617 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs|UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 8 605 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 118004 118005 + In_Frame_Ins INS - - CCTCGTCTTCCA TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:118004_118005insCCTCGTCTTCCA ENST00000382500.2 - 1 412_413 c.115_116insTGGAAGACGAGG c.(115-117)gga>TGGAAGACGAGGgga p.38_39insWKTR NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 38 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CGCCGCCTCCTCCTCGTCTTCA 0.668 13 463 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 7 104 --- --- --- --- CNTNAP3 79937 broad.mit.edu 37 9 39149853 39149853 + Frame_Shift_Del DEL C C - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:39149853delC ENST00000297668.6 - 10 1672 c.1599delG c.(1597-1599)gcfs p.A533fs CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000323947.7_Intron NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 533 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AACTCCCCAGCGCCCCCTGCT 0.542 8 76 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 7 36 --- --- --- --- ZFP37 7539 broad.mit.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:115806416delT ENST00000374227.3 - 4 509 c.482delA c.(481-483)atfs p.N162fs ZFP37_ENST00000553380.1_Frame_Shift_Del_p.N177fs|ZFP37_ENST00000555206.1_Frame_Shift_Del_p.N163fs Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 162 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ATGCAAATTATTTTTTTTCCC 0.343 8 400 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 13 329 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G G - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:135941982delG ENST00000372080.4 + 5 629 c.613delG c.(613-615)ggfs p.G206fs CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 203 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCGGCCTTCGGGGGGGACCC 0.642 8 850 --- --- --- --- WDR5 11091 broad.mit.edu 37 9 137019598 137019598 + Frame_Shift_Del DEL C C - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:137019598delC ENST00000358625.3 + 10 813 c.642delC c.(640-642)aafs p.N214fs WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs NM_017588.2 NP_060058.1 P61964 WDR5_HUMAN WD repeat domain 5 214 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) ATGACGACAACCCCCCCGTGT 0.627 8 1735 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139390945 139390947 + In_Frame_Del DEL GTG GTG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr9:139390945_139390947delGTG ENST00000277541.6 - 34 7319_7321 c.7244_7246delCAC c.(7243-7248)cag>c p.PQ2415del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2415 Poly-Pro. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.Q2417*(2)|p.P2416fs*11(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCGGCTGTGGTGGTGGTGG 0.650 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 267 --- --- --- --- DNAJC1 64215 broad.mit.edu 37 10 22208817 22208818 + Frame_Shift_Ins INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:22208817_22208818insT ENST00000376980.3 - 5 868_869 c.578_579insA c.(577-579)aacfs p.N193fs NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 193 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TGCTGCCAGTCTTTTTTTTCTT 0.302 8 634 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 11 381 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828727 61828729 + In_Frame_Del DEL GTG GTG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:61828727_61828729delGTG ENST00000280772.1 - 37 12101_12103 c.11910_11912delCAC c.(11908-11913)act>ac p.TT3976del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3976 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 agtggtggtagtggtggtggtgg 0.468 9 467 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 8 513 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 13 577 --- --- --- --- DENND5A 23258 broad.mit.edu 37 11 9167317 9167317 + Frame_Shift_Del DEL C C - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:9167317delC ENST00000328194.3 - 17 3223 c.2903delG c.(2902-2904)gcfs p.G968fs DENND5A_ENST00000527700.1_Frame_Shift_Del_p.G311fs|DENND5A_ENST00000530044.1_Frame_Shift_Del_p.G968fs NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 968 PLAT. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GAACATGGAGCCCCCCAGCTT 0.478 8 1828 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:35513670delC ENST00000378880.2 - 3 747 c.302delG c.(301-303)gtfs p.G101fs PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ATCCAAGGTACCCCCCCATGA 0.517 8 1219 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 12 186 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118773004 118773004 + Frame_Shift_Del DEL G G - rs147951163 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:118773004delG ENST00000334801.3 - 6 2412 c.1448delC c.(1447-1449)cgfs p.P483fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 483 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ATGCTCCAGCGGGGGGCCCCC 0.642 7 867 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 7 849 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 8 206 --- --- --- --- GPR19 2842 broad.mit.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:12814274delT ENST00000540510.1 - 2 1301 c.1109delA c.(1108-1110)acfs p.N370fs GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs Q15760 GPR19_HUMAN G protein-coupled receptor 19 370 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GCCAACGTAGTTTTTTTTGGC 0.398 7 727 --- --- --- --- SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr12:102122901delT ENST00000392927.3 - 8 774 c.643delA c.(643-645)ttfs p.I215fs SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCCATCATAATTTTTTTTTGC 0.259 9 237 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671804 25671806 + In_Frame_Del DEL GCT GCT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:25671804_25671806delGCT ENST00000281589.3 + 1 1505_1507 c.1468_1470delGCT c.(1468-1470)del p.A496del NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 496 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGTCctgcagctgctgctgctg 0.532 8 346 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:33344888delA ENST00000315596.10 + 33 4347 c.4161delA c.(4159-4161)ccfs p.P1387fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1387 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.N1390fs*4(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CATCACAACCAAAAAAAAATG 0.338 7 97 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 11 192 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 13 228 --- --- --- --- POTEM 641455 broad.mit.edu 37 14 20019999 20019999 + Frame_Shift_Del DEL C C - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:20019999delC ENST00000551509.1 - 1 273 c.222delG c.(220-222)ggfs p.G74fs NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 74 endometrium(4)|kidney(1)|lung(4) 9 TCTTGCCGCTCCCCCTGCACC 0.587 7 2845 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 11 647 --- --- --- --- PRKCH 5583 broad.mit.edu 37 14 62014535 62014535 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:62014535delT ENST00000332981.5 + 13 2221 c.1836delT c.(1834-1836)ccfs p.P612fs PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Frame_Shift_Del_p.L117fs|PRKCH_ENST00000555082.1_Frame_Shift_Del_p.P451fs NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 612 Protein kinase. P -> S (in dbSNP:rs34159231). intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TGAGACATCCTTTTTTTAAGG 0.522 7 1503 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 10 251 --- --- --- --- IGHJ6 0 broad.mit.edu 37 14 106329450 106329451 + RNA INS - - ACC rs74454466 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr14:106329450_106329451insACC ENST00000390560.2 - 0 17_18 CAGACGTCCATGTAGTAGTAGT 0.540 14 469 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52901069 52901069 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr15:52901069delT ENST00000261844.7 - 6 2194 c.2042delA c.(2041-2043)atfs p.N681fs FAM214A_ENST00000546305.2_Frame_Shift_Del_p.N688fs NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 681 TTTTGAGTCATTTTTTTTGGA 0.284 12 322 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 7 59 --- --- --- --- CHSY1 22856 broad.mit.edu 37 15 101717648 101717648 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr15:101717648delT ENST00000254190.3 - 3 2829 c.2354delA c.(2353-2355)atfs p.N785fs CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 785 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACTTGGATCATTTTTTTCCAG 0.428 8 527 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 12 1037 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 8 514 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000561803.1_5'UTR NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 8 264 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 7 259 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 12 296 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 11 344 --- --- --- --- CANT1 124583 broad.mit.edu 37 17 76993313 76993313 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr17:76993313delT ENST00000302345.2 - 2 886 c.392delA c.(391-393)agfs p.K131fs CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs|CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 131 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CAGGTAGCCCTTTTTCAGGTA 0.577 T ETV4 prostate 7 1454 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 7 76 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 8 823 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 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 10 215 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9057565 9057565 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr19:9057565delT ENST00000397910.4 - 3 30084 c.29881delA c.(29881-29883)gtfs p.S9962fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9964 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGGAGAACTTTTTTGGGTG 0.488 7 1157 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 8 208 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 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 13 698 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21143813 21143814 + RNA INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:21143813_21143814insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA AAGCCATTCAATTTTTTTTTTC 0.371 15 349 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 10 449 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39833199 39833199 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:39833199delT ENST00000309060.3 - 4 773 c.358delA c.(358-360)ccfs p.T120fs ZHX3_ENST00000540170.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.T120fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 120 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CCCTCAGGGGTTTTTGCCAGA 0.498 8 594 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 7 322 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr20:61512380_61512381insG ENST00000266070.4 - 16 5252_5253 c.4927_4928insC c.(4927-4929)cccfs p.P1643fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1643 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGGCGGGGCGGGTGCCCTCC 0.728 7 108 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 188 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ggcggcgctacagcagcagcagc 0.626 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 151 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 11 309 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25855682 25855683 + RNA INS - - GTGT rs72063487 by1000genomes TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr22:25855682_25855683insGTGT ENST00000354451.2 + 0 366 CCTGGCAGCTGgtgtgtgtgtg 0.530 3 3 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 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 12 474 --- --- --- --- SH3BP1 23616 broad.mit.edu 37 22 38039752 38039754 + In_Frame_Del DEL AGG AGG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr22:38039752_38039754delAGG ENST00000599616.1 + 5 383_385 c.383_385delAGG c.(382-387)aag>a p.KE128del SH3BP1_ENST00000336738.5_In_Frame_Del_p.KE192del|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_In_Frame_Del_p.KE192del|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000357436.4_In_Frame_Del_p.KE192del Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 192 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) GAGACGCTGAAGGAGGAGGAGGA 0.606 OREG0026546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 406 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120029 38120031 + In_Frame_Del DEL CCT CCT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 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 7 442 --- --- --- --- PICK1 9463 broad.mit.edu 37 22 38471034 38471036 + In_Frame_Del DEL GGA GGA - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 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 7 181 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del|TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 9 499 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43218401 43218401 + Frame_Shift_Del DEL T T - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chr22:43218401delT ENST00000263245.5 - 9 906 c.687delA c.(685-687)aafs p.K229fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 229 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CCAAACTTCCTTTTTTGGCCC 0.423 10 811 --- --- --- --- SCML2 10389 broad.mit.edu 37 X 18276282 18276283 + Frame_Shift_Ins INS - - G TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chrX:18276282_18276283insG ENST00000251900.4 - 10 1313_1314 c.1154_1155insC c.(1153-1155)cggfs p.R385fs SCML2_ENST00000398048.3_Frame_Shift_Ins_p.R121fs NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 385 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.P385P(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TCACCGGGCCCGGGCCGAAGTG 0.500 8 437 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 7 29 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_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 13 452 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc 3ca35289-4e81-450e-9e04-6bd0be0b1642 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 8 357 --- --- --- ---