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 SEPT6 23157 broad.mit.edu 37 X 118771068 118771068 + Missense_Mutation SNP C C T TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chrX:118771068C>T ENST00000394610.1 - 7 1142 c.878G>A c.(877-879)cGg>cAg p.R293Q SEPT6_ENST00000354228.4_Missense_Mutation_p.R293Q|SEPT6_ENST00000394616.4_Missense_Mutation_p.R235Q|SEPT6_ENST00000394617.2_Missense_Mutation_p.R323Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.R293Q|SEPT6_ENST00000343984.5_Missense_Mutation_p.R293Q|SEPT6_ENST00000360156.7_Missense_Mutation_p.R293Q|SEPT6_ENST00000354416.3_Missense_Mutation_p.R293Q NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 293 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 CTCATAGTGCCGGGTGTGGGT 0.587000 T MLL AML 7 174 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639635 149639635 + Missense_Mutation SNP A A T TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chrX:149639635A>T ENST00000370401.2 + 4 2100 c.1790A>T c.(1789-1791)cAg>cTg p.Q597L MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L Q13495 MAMD1_HUMAN mastermind-like domain containing 1 597 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TTgcagctgcagcagcagcag 0.607000 3 107 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 745936 745936 + Silent SNP G G A rs113754514 TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr20:745936G>A ENST00000381944.3 - 2 724 c.483C>T c.(481-483)tcC>tcT p.S161S SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.S161S Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 161 sensory perception of sound integral to plasma membrane riboflavin transporter activity TAGTGAGACCGGAGCCCTGGG 0.602000 3 106 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 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.Q2742Q(2) 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) agcagcaacagcagcagcagc 0.597000 3 42 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50105084 50105084 + Missense_Mutation SNP C C T TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr19:50105084C>T ENST00000418929.2 + 6 4694 c.4682C>T c.(4681-4683)aCg>aTg p.T1561M NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 740 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TGTGGGGAGACGGACGAGGAG 0.682000 16 29 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 5 80 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 3 44 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 42 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304884 102304884 + RNA SNP G G C rs143982735 by1000genomes TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr15:102304884G>C ENST00000561463.1 + 0 12930 GCGTGGGAACGAGAAGACACT 0.562000 3 14 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 3 83 0 0 1 0 0 PLRG1 5356 broad.mit.edu 37 4 155459182 155459182 + Silent SNP G G A rs146078897 TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr4:155459182G>A ENST00000499023.2 - 13 1356 c.1230C>T c.(1228-1230)tcC>tcT p.S410S PLRG1_ENST00000393905.2_Silent_p.S410S|PLRG1_ENST00000302078.5_Silent_p.S401S NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 410 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) CATTATGACCGGAAAGATTTT 0.303000 3 102 0 0 1 0 0 CD244 51744 broad.mit.edu 37 1 160811160 160811160 + Silent SNP G G A TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr1:160811160G>A ENST00000368034.4 - 3 672 c.495C>T c.(493-495)taC>taT p.Y165Y CD244_ENST00000368033.3_Silent_p.Y170Y|CD244_ENST00000322302.7_Intron|CD244_ENST00000368032.2_Silent_p.Y165Y NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 170 Ig-like 2. blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGCTCCCTCTGTACCAAGCAT 0.547000 64 121 0 0 1 0 0 TBCCD1 55171 broad.mit.edu 37 3 186268998 186268998 + Missense_Mutation SNP G G A TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr3:186268998G>A ENST00000424280.1 - 7 2094 c.1615C>T c.(1615-1617)Cgc>Tgc p.R539C TBCCD1_ENST00000446782.1_Missense_Mutation_p.R443C|TBCCD1_ENST00000338733.5_Missense_Mutation_p.R539C NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 539 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) AGCTGTTGGCGATGTCCTGTA 0.428000 3 81 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 5 48 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156823629 156823629 + Silent SNP C C T TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr1:156823629C>T ENST00000368195.3 - 2 948 c.552G>A c.(550-552)ctG>ctA p.L184L NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 184 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGCAGCACCCAGCACACCAG 0.637000 27 40 0 0 1 0 0 PCDHGB4 0 broad.mit.edu 37 5 140767492 140767497 + In_Frame_Del DEL TGCCAG TGCCAG - TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr5:140767492_140767497delTGCCAG ENST00000519479.1 + 1 41_46 c.41_46delTGCCAG c.(40-48)ctg>c p.LPV14del PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 p.P15_V16delPV(1) endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGAGAGGCTGCCAGTGCTCTTTCT 0.617 OREG0016859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 8 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 8 415 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320135 90320146 + In_Frame_Del DEL GGGCAGGGGCAG GGGCAGGGGCAG - rs56192595 by1000genomes TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr15:90320135_90320146delGGGCAGGGGCAG ENST00000341735.3 + 1 547_558 c.547_558delGGGCAGGGGCAG c.(547-558)del p.GQGQ199del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 199 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) gcaggggcaagggcaggggcaggggcaggggc 0.783 4 3 --- --- --- --- LRRK1 79705 broad.mit.edu 37 15 101514014 101514014 + Frame_Shift_Del DEL G G - TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr15:101514014delG ENST00000284395.5 + 3 422 c.22delG c.(22-24)ggfs p.G8fs LRRK1_ENST00000532029.2_Frame_Shift_Del_p.G35fs|LRRK1_ENST00000388948.3_Frame_Shift_Del_p.G35fs Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 35 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGCAGGTGCCGGGGACACGGG 0.741 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102296030 102296032 + RNA DEL CTC CTC - TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr15:102296030_102296032delCTC ENST00000561463.1 + 0 4076_4078 AGTTCATCTTCTCGGAGCTGCTG 0.596 4 6 --- --- --- --- SIPA1L3 23094 broad.mit.edu 37 19 38572367 38572368 + In_Frame_Ins INS - - GCCACC TCGA-HT-7680-01A-11D-2253-08 TCGA-HT-7680-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4ad1dd18-303c-4f67-ac35-4ab89739f2bd 58445e52-52f3-46b7-ad9e-545dc18f369f g.chr19:38572367_38572368insGCCACC ENST00000222345.6 + 3 671_672 c.162_163insGCCACC c.(160-165)ccccac>ccGCCACCccac p.53_54insPP NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 53 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCGAGAGCCCGgccaccgccac 0.718 5 11 --- --- --- ---