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 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 33 0 0 1 0 0 RAD23A 5886 broad.mit.edu 37 19 13059566 13059566 + Missense_Mutation SNP T T C TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr19:13059566T>C ENST00000586534.1 + 5 600 c.539T>C c.(538-540)gTc>gCc p.V180A RAD23A_ENST00000541222.1_Missense_Mutation_p.V15A|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.V180A|RAD23A_ENST00000592268.1_Missense_Mutation_p.V180A P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 180 UBA 1. interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 CGAGAGCGGGTCGTGGCCGCC 0.632000 Nucleotide excision repair (NER) 5 123 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147113841 147113841 + Missense_Mutation SNP G G C TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr3:147113841G>C ENST00000383075.3 - 3 998 c.486C>G c.(484-486)caC>caG p.H162Q ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.H200Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H162Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.H212Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.H162Q NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 162 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GGCCGCCGACGTGCTCCACGG 0.602000 5 100 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7578728 7578728 + Missense_Mutation SNP T T C TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr6:7578728T>C ENST00000379802.3 + 22 3358 c.3017T>C c.(3016-3018)cTa>cCa p.L1006P DSP_ENST00000418664.2_Missense_Mutation_p.L1006P NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1006 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACATTGAACTACTTACAAGA 0.358000 4 52 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3297232 3297232 + Silent SNP C C T TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr16:3297232C>T ENST00000219596.1 - 5 1410 c.1371G>A c.(1369-1371)gcG>gcA p.A457A MEFV_ENST00000541159.1_Silent_p.A246A|MEFV_ENST00000536379.1_Silent_p.A246A|MEFV_ENST00000339854.4_Silent_p.A277A NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 457 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GCTGCTTCAGCGCTTCAGTTT 0.597000 6 74 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37343159 37343159 + Missense_Mutation SNP G G C rs149496070 TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr17:37343159G>C ENST00000394303.3 - 5 645 c.438C>G c.(436-438)atC>atG p.I146M CACNB1_ENST00000344140.5_Missense_Mutation_p.I146M|CACNB1_ENST00000394310.3_Missense_Mutation_p.I146M|CACNB1_ENST00000582877.1_5'UTR NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 146 SH3. axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CCAGCCGCCCGATCCACCAGT 0.562000 3 38 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157509002 157509002 + Missense_Mutation SNP C C T TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr1:157509002C>T ENST00000361835.3 - 7 1433 c.1276G>A c.(1276-1278)Gcc>Acc p.A426T FCRL5_ENST00000368189.3_Missense_Mutation_p.A426T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A426T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A341T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A426T NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 426 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GCAGAGTTGGCCGACCTACGC 0.572000 3 21 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332432 22332432 + RNA SNP C C T TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr15:22332432C>T ENST00000558896.1 + 0 239 AAGATTCTAACGTGACAGAAC 0.343000 4 136 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr6:29977359G>A ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 5 35 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149302 34149302 + Missense_Mutation SNP G G A TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chrX:34149302G>A ENST00000346193.3 - 1 1145 c.1094C>T c.(1093-1095)gCg>gTg p.A365V NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 365 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CTTGGGAGGCGCTAGGCGGAG 0.627000 3 24 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr6:29977358T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 5 35 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75068480 75068480 + Missense_Mutation SNP C C T TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr7:75068480C>T ENST00000453279.2 - 6 1114 c.250G>A c.(250-252)Gga>Aga p.G84R POM121C_ENST00000257665.5_Missense_Mutation_p.G326R NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 326 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 GCTGAATGTCCACTGCCACTG 0.453000 6 184 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032722 74032722 + Missense_Mutation SNP G G A TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr15:74032722G>A ENST00000569673.1 - 3 1622 c.418C>T c.(418-420)Cgc>Tgc p.R140C C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.R140C Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 140 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTCATGAGGCGGTAGTCAGGG 0.647000 3 63 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100594119 100594119 + Silent SNP G G A TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr15:100594119G>A ENST00000268070.4 - 16 2383 c.2278C>T c.(2278-2280)Cta>Tta p.L760L NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 760 Spacer. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TGCAGCGGTAGTTTGGTTGGT 0.527000 6 206 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238615 71238615 + Missense_Mutation SNP G G A TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr11:71238615G>A ENST00000398536.4 + 1 303 c.269G>A c.(268-270)tGt>tAt p.C90Y NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 90 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 TGTGGTTCTTGTGgctgctcc 0.647000 6 135 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96523162 96523162 + Silent SNP G G T TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr2:96523162G>T ENST00000456556.1 - 62 4059 c.3975C>A c.(3973-3975)atC>atA p.I1325I ANKRD36C_ENST00000420871.2_Silent_p.I576I|ANKRD36C_ENST00000419039.2_Silent_p.I352I ankyrin repeat domain 36C p.I1325I(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GCTCTTCTGTGATTCTTAACT 0.343000 3 14 0.115264 0.115264 1 1 0 NCOA3 8202 broad.mit.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr20:46279833G>A ENST00000372004.3 + 20 3963 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1253 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcaacagcagc 0.547000 3 38 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894418 10894418 + Missense_Mutation SNP G G A TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr6:10894418G>A ENST00000283141.6 + 4 613 c.317G>A c.(316-318)cGg>cAg p.R106Q SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 106 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CTGCTAATTCGGCAGGGACTG 0.378000 6 96 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731451 21731451 + Missense_Mutation SNP G G A TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr17:21731451G>A ENST00000578713.1 + 2 530 c.526G>A c.(526-528)Gaa>Aaa p.E176K UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 TGACACCATCGAAAATGTGAA 0.542000 3 48 0 0 1 0 0 BIRC5 332 broad.mit.edu 37 17 76212096 76212096 + Nonsense_Mutation SNP C C T rs147848202 TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr17:76212096C>T ENST00000301633.4 + 3 402 c.271C>T c.(271-273)Cga>Tga p.R91* BIRC5_ENST00000350051.3_Intron|AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron NM_001012271.1 NP_001012271.1 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 74 anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) tttgggaggccgaggcgggcg 0.562000 3 27 0 0 1 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137796 + RNA DEL CCACCG CCACCG - rs28552466 by1000genomes TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr1:121137791_121137796delCCACCG ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGCCAC 0.631 3 6 --- --- --- --- RP11-584P21.2 0 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 5 5 --- --- --- --- C1QTNF8 390664 broad.mit.edu 37 16 1143978 1143979 + Frame_Shift_Ins INS - - C rs142667444 by1000genomes TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr16:1143978_1143979insC ENST00000328449.5 - 4 554_555 c.281_282insG c.(280-282)gctfs p.A94fs NM_207419.3 NP_997302.2 P60827 C1QT8_HUMAN C1q and tumor necrosis factor related protein 8 94 Collagen-like. collagen lung(2)|prostate(1)|skin(1) 4 Hepatocellular(780;0.00369) GGCCCTGCAGGCCCCGGGCGCC 0.767 3 5 --- --- --- --- SBF1 6305 broad.mit.edu 37 22 50905121 50905121 + Frame_Shift_Del DEL C C - TCGA-V1-A8MK-01A-11D-A364-08 TCGA-V1-A8MK-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96303eed-b939-4980-b0c6-c64f4c0c6bf1 7f00368f-9274-4a6d-a253-193feaac3ced g.chr22:50905121delC ENST00000380817.2 - 6 751 c.568delG c.(568-570)ctfs p.A190fs SBF1_ENST00000348911.6_Frame_Shift_Del_p.A191fs|SBF1_ENST00000390679.3_Frame_Shift_Del_p.A190fs NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 190 DENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGGTCACCAGCCCCCAAAGAG 0.637 2 4 --- --- --- ---