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 RPRD1A 55197 broad.mit.edu 37 18 33606928 33606928 + Nonsense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr18:33606928G>A ENST00000399022.4 - 6 895 c.724C>T c.(724-726)Cga>Tga p.R242* RPRD1A_ENST00000590898.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000357384.4_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000588737.1_Nonsense_Mutation_p.R206*|RPRD1A_ENST00000319040.6_Nonsense_Mutation_p.R242*|RPRD1A_ENST00000337059.5_Nonsense_Mutation_p.R206* NM_018170.3 NP_060640.2 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 1A 242 p.R242R(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 GCTAACATTCGAGTGAGTTGC 0.403000 6 98 0 0 0.217242 0 0 MUC4 4585 broad.mit.edu 37 3 195515449 195515449 + Missense_Mutation SNP A A T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr3:195515449A>T ENST00000463781.3 - 2 3461 c.3002T>A c.(3001-3003)gTa>gAa p.V1001E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1006 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.V1001A(1)|p.V1001E(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGC 0.587000 3 10 0 0 0.150653 0 0 S1PR5 53637 broad.mit.edu 37 19 10625003 10625003 + Missense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:10625003G>A ENST00000439028.3 - 2 810 c.685C>T c.(685-687)Cgg>Tgg p.R229W S1PR5_ENST00000333430.4_Missense_Mutation_p.R229W NM_001166215.1 NP_001159687.1 Q9H228 S1PR5_HUMAN sphingosine-1-phosphate receptor 5 229 integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 12 GTCCCGGGCCGTGCCGGCAGG 0.716000 2 1 0 0 0.115264 0 0 DOCK6 57572 broad.mit.edu 37 19 11333436 11333436 + Missense_Mutation SNP G G C TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:11333436G>C ENST00000294618.7 - 26 3226 c.3215C>G c.(3214-3216)cCc>cGc p.P1072R DOCK6_ENST00000319867.7_Missense_Mutation_p.P411R NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1072 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GGACACAGAGGGGGAGGGCGA 0.612000 3 3 0 0 0.150653 0 0 FBXO18 84893 broad.mit.edu 37 10 5948520 5948520 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr10:5948520C>T ENST00000379999.5 + 4 935 c.831C>T c.(829-831)ttC>ttT p.F277F FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Silent_p.F226F NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 226 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 TGTTTGCCTTCCTCCCGGTGG 0.572000 7 142 0 0 0.278610 0 0 ZNF564 163050 broad.mit.edu 37 19 12637690 12637690 + Missense_Mutation SNP T T A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:12637690T>A ENST00000339282.7 - 4 1428 c.1232A>T c.(1231-1233)cAc>cTc p.H411L CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 AGTTCTTTCGTGTATTTGAAA 0.408000 26 246 0 0 0.681144 0 0 THAP9 79725 broad.mit.edu 37 4 83838413 83838413 + Nonsense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr4:83838413C>T ENST00000302236.5 + 5 1099 c.1048C>T c.(1048-1050)Cag>Tag p.Q350* LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 350 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) TGGATATTTGCAGGCTCAGCT 0.423000 4 204 0 0 0.150653 0 0 SARDH 1757 broad.mit.edu 37 9 136529067 136529067 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr9:136529067C>T ENST00000371872.4 - 21 2958 c.2701G>A c.(2701-2703)Gct>Act p.A901T SARDH_ENST00000439388.1_Missense_Mutation_p.A901T|SARDH_ENST00000422262.2_Missense_Mutation_p.A733T|SARDH_ENST00000371868.1_Missense_Mutation_p.A351T NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 901 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TTCAGGTGAGCCTGGGCACCA 0.577000 7 140 0 0 0.278610 0 0 APPL1 26060 broad.mit.edu 37 3 57301791 57301791 + Missense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr3:57301791G>A ENST00000288266.3 + 20 2011 c.1864G>A c.(1864-1866)Gca>Aca p.A622T NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 622 PID. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) TGTTGGACTGGCAAAACAGAT 0.428000 4 98 0 0 0.150653 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933458 209933458 + Missense_Mutation SNP G G C TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr1:209933458G>C ENST00000367024.1 + 3 590 c.74G>C c.(73-75)cGc>cCc p.R25P TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R25P|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R25P Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 25 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) AAGTGTGAGCGCAGGCAAGAG 0.627000 4 49 0 0 0.150653 0 0 TOR1A 1861 broad.mit.edu 37 9 132584984 132584984 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr9:132584984C>T ENST00000351698.4 - 2 368 c.320G>A c.(319-321)gGc>gAc p.G107D TOR1A_ENST00000473084.1_5'UTR NM_000113.2 NP_000104.1 O14656 TOR1A_HUMAN torsin family 1, member A (torsin A) 107 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding p.G107D(4) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Ovarian(14;0.00556) GAAATTTTTGCCGGTGCCTGT 0.468000 5 350 0 0 0.217242 0 0 TGDS 23483 broad.mit.edu 37 13 95248340 95248340 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr13:95248340C>T ENST00000261296.5 - 1 171 c.51G>A c.(49-51)gcG>gcA p.A17A TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 17 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GGACCCGCTTCGCAAAGCCGC 0.607000 23 25 0 0 0.717897 0 0 TDRD7 23424 broad.mit.edu 37 9 100245294 100245294 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr9:100245294C>T ENST00000355295.4 + 15 2871 c.2576C>T c.(2575-2577)tCt>tTt p.S859F TDRD7_ENST00000422139.2_Missense_Mutation_p.S785F|TDRD7_ENST00000540902.1_Missense_Mutation_p.S179F NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 859 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) GGAGCTGACTCTCCCAACAGC 0.463000 40 51 0 0 0.819951 0 0 NLRP9 338321 broad.mit.edu 37 19 56249479 56249479 + Missense_Mutation SNP C C A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:56249479C>A ENST00000332836.2 - 1 289 c.262G>T c.(262-264)Gct>Tct p.A88S NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 88 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TCTTCCTGAGCCTTTGTCCAG 0.498000 13 1080 0.00136819 0.00166853 0.411799 1 0 POMT2 29954 broad.mit.edu 37 14 77778367 77778367 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr14:77778367C>T ENST00000261534.4 - 2 460 c.258G>A c.(256-258)gaG>gaA p.E86E NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 86 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) CAAAGTGAGTCTCATCCCAAC 0.373000 20 36 0 0 0.608945 0 0 JMJD1C 221037 broad.mit.edu 37 10 64967027 64967027 + Nonsense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr10:64967027G>A ENST00000399262.2 - 10 4620 c.4402C>T c.(4402-4404)Caa>Taa p.Q1468* JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1286*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q1249*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1249* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1468 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GAACTGGGTTGAACAACACTT 0.433000 76 98 0 0 0.870114 0 0 ZFAND5 0 broad.mit.edu 37 9 74971943 74971943 + Nonsense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr9:74971943G>A ENST00000237937.3 - 5 954 c.397C>T c.(397-399)Cag>Tag p.Q133* ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376960.4_Nonsense_Mutation_p.Q133*|ZFAND5_ENST00000376962.5_Nonsense_Mutation_p.Q133* NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 133 DNA binding|zinc ion binding p.Q133*(1) cervix(1)|kidney(2)|lung(2)|prostate(1) 6 GTACTGGGCTGAGAAACTGAT 0.383000 35 51 0 0 0.788014 0 0 RIOK2 55781 broad.mit.edu 37 5 96498929 96498929 + Splice_Site SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr5:96498929C>T ENST00000283109.3 - 10 1563 c.1494_splice c.e10-1 p.E499_splice CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 499 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TTCACCAGTTCCTGGAAAGAT 0.328000 39 49 0 0 0.812448 0 0 ATP10A 57194 broad.mit.edu 37 15 26107935 26107935 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr15:26107935C>T ENST00000356865.6 - 1 420 c.309G>A c.(307-309)gtG>gtA p.V103V NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 103 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGAAGGCGTTCACCGCCGGCA 0.652000 6 14 0 0 0.307466 0 0 MOS 4342 broad.mit.edu 37 8 57026479 57026479 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr8:57026479C>T ENST00000311923.1 - 1 62 c.63G>A c.(61-63)gcG>gcA p.A21A NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 21 ATP binding|protein binding|protein serine/threonine kinase activity p.A21A(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) TGCAGGGCCGCGCGTCCACCG 0.706000 23 36 0 0 0.624587 0 0 CALML6 163688 broad.mit.edu 37 1 1848280 1848280 + Missense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr1:1848280G>A ENST00000307786.3 + 4 797 c.343G>A c.(343-345)Gca>Aca p.A115T CALML6_ENST00000462293.1_3'UTR NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 115 EF-hand 3. cytoplasm|nucleus calcium ion binding p.A115T(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTGAGGGCGGCATTCCGTGT 0.597000 4 178 0 0 0.184627 0 0 POMT2 29954 broad.mit.edu 37 14 77778315 77778315 + Missense_Mutation SNP C C G TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr14:77778315C>G ENST00000261534.4 - 2 512 c.310G>C c.(310-312)Gat>Cat p.D104H NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 104 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) GGGTGCACATCAAAGAAAAAT 0.433000 15 41 0 0 0.520397 0 0 LPAR6 10161 broad.mit.edu 37 13 48985608 48985608 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr13:48985608C>T ENST00000378434.4 - 7 2576 c.952G>A c.(952-954)Gaa>Aaa p.E318K LPAR6_ENST00000345941.2_Missense_Mutation_p.E318K|RB1_ENST00000267163.4_Intron NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 318 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 CCATGAACTTCAGAGAATCTG 0.343000 66 87 0 0 0.870114 0 0 LMAN2L 81562 broad.mit.edu 37 2 97405604 97405604 + Silent SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr2:97405604C>T ENST00000264963.4 - 1 196 c.174G>A c.(172-174)tcG>tcA p.S58S LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.S58S NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 58 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 GGTAGGGCTTCGACAGCGAGT 0.627000 33 51 0 0 0.788014 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115677 15115677 + Missense_Mutation SNP C C T rs147577833 byFrequency TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr3:15115677C>T ENST00000253699.3 - 14 2580 c.1967G>A c.(1966-1968)cGc>cAc p.R656H ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 656 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TTTCAGGATGCGGGCTGAAGG 0.562000 5 309 0 0 0.184627 0 0 FAM84A 151354 broad.mit.edu 37 2 14774447 14774447 + Missense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr2:14774447C>T ENST00000295092.2 + 2 632 c.344C>T c.(343-345)gCg>gTg p.A115V FAM84A_ENST00000331243.4_Missense_Mutation_p.A115V NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 115 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GCGGTCACCGCGCTGCCAGCG 0.692000 5 14 0 0 0.184627 0 0 OVGP1 5016 broad.mit.edu 37 1 111965622 111965622 + Missense_Mutation SNP G G C TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr1:111965622G>C ENST00000369732.3 - 6 590 c.535C>G c.(535-537)Ctg>Gtg p.L179V OVGP1_ENST00000540696.1_Missense_Mutation_p.L119V|OVGP1_ENST00000481495.1_5'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 179 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GACAGCAGCAGCCTCGGGCGC 0.542000 110 106 0 0 0.870114 0 0 SPIB 6689 broad.mit.edu 37 19 50931366 50931366 + Missense_Mutation SNP G G A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:50931366G>A ENST00000595883.1 + 6 587 c.562G>A c.(562-564)Gtg>Atg p.V188M SPIB_ENST00000597855.1_3'UTR|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000439922.2_Missense_Mutation_p.V97M NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 188 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCGTGAGTGCGTGTGGTGGGT 0.682000 3 3 0 0 0.184627 0 0 VAPA 9218 broad.mit.edu 37 18 9950521 9950521 + Nonsense_Mutation SNP C C T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr18:9950521C>T ENST00000400000.2 + 5 802 c.547C>T c.(547-549)Cag>Tag p.Q183* VAPA_ENST00000340541.4_Nonsense_Mutation_p.Q228*|VAPA_ENST00000584796.1_3'UTR NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 183 cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 TAAAAGACTTCAGGGAGAAAT 0.378000 47 41 0 0 0.870114 0 0 TGFBR3 7049 broad.mit.edu 37 1 92200373 92200373 + Silent SNP T T C TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr1:92200373T>C ENST00000212355.4 - 5 993 c.528A>G c.(526-528)gaA>gaG p.E176E TGFBR3_ENST00000525962.1_Silent_p.E176E|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Silent_p.E176E NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 176 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CTATCTTGAGTTCGGTGAATG 0.378000 13 308 0 0 0.435327 0 0 FFAR4 338557 broad.mit.edu 37 10 95326832 95326832 + Missense_Mutation SNP A A G TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr10:95326832A>G ENST00000371483.4 + 1 411 c.355A>G c.(355-357)Acc>Gcc p.T119A FFAR4_ENST00000604414.1_Missense_Mutation_p.T119A|FFAR4_ENST00000371481.4_Missense_Mutation_p.T119A NM_181745.3 NP_859529.2 free fatty acid receptor 4 CTACGTGATGACCCTGAGCGG 0.687000 18 24 0 0 0.557998 0 0 ZMYND15 84225 broad.mit.edu 37 17 4645341 4645341 + Missense_Mutation SNP G G T TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr17:4645341G>T ENST00000433935.1 + 4 1016 c.959G>T c.(958-960)aGc>aTc p.S320I ZMYND15_ENST00000592813.1_Missense_Mutation_p.S320I|ZMYND15_ENST00000573751.2_Missense_Mutation_p.S320I|ZMYND15_ENST00000269289.6_Missense_Mutation_p.S320I NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 320 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CACAGGCACAGCTTTGAAGCG 0.592000 4 197 0.0293803 0.0349766 0.248553 1 0 DGKG 1608 broad.mit.edu 37 3 185929649 185929649 + Nonsense_Mutation SNP C C A TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr3:185929649C>A ENST00000265022.3 - 21 2391 c.1852G>T c.(1852-1854)Gaa>Taa p.E618* DGKG_ENST00000382164.4_Nonsense_Mutation_p.E579*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.E593*|DGKG_ENST00000544847.1_Nonsense_Mutation_p.E559* NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 618 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GTGCCAAATTCAAAGTACCAC 0.453000 4 100 0.00024832 0.0003104 0.150653 1 0 THEMIS 387357 broad.mit.edu 37 6 128134235 128134238 + Frame_Shift_Del DEL ACTA ACTA - rs150659844 TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr6:128134235_128134238delACTA ENST00000368250.1 - 5 1809_1812 c.1311_1314delTAGT c.(1309-1314)gtfs p.VS437fs THEMIS_ENST00000537166.1_Frame_Shift_Del_p.VS481fs|THEMIS_ENST00000368248.2_Frame_Shift_Del_p.VS516fs|THEMIS_ENST00000543064.1_Frame_Shift_Del_p.VS516fs Q8N1K5 THMS1_HUMAN thymocyte selection associated 516 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TAGAGAAATTACTAACTAACTGAA 0.441 50 76 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145009091 145009091 + Frame_Shift_Del DEL G G - rs137853160 TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr8:145009091delG ENST00000322810.4 - 9 1412 c.1243delC c.(1243-1245)agfs p.Q415fs PLEC_ENST00000345136.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.Q305fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.Q264fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.Q278fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.Q282fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.Q256fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.Q301fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.Q246fs NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 415 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CAGCGCAGCTGCAGCTCCTGC 0.706 19 31 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20262849 20262850 + RNA INS - - T rs142097873 TCGA-DE-A0Y2-01A-11D-A10S-08 TCGA-DE-A0Y2-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3423951-7bef-4dbe-be7c-c46c37ed2ffb aef4af62-4d81-4cdb-9cd8-069dd8a3b6e7 g.chr19:20262849_20262850insT ENST00000593655.1 - 0 337 CTC-260E6.6_ENST00000586657.1_RNA TTTCttttttcttttttttttt 0.470 2 4 --- --- --- ---