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 IMPDH2 3615 broad.mit.edu 37 3 49062646 49062646 + Missense_Mutation SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr3:49062646G>A ENST00000326739.4 - 10 1102 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 355 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCAAAGCGCCGTGCATACTCT 0.557000 30 264 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37225722 37225722 + Nonsense_Mutation SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr6:37225722G>A ENST00000373491.3 + 1 175 c.29G>A c.(28-30)tGg>tAg p.W10* NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 10 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) AAGCAGTTTTGGAAGAGGAGC 0.622000 9 39 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19246838 19246838 + Missense_Mutation SNP T T A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr11:19246838T>A ENST00000527884.1 - 12 2583 c.2351A>T c.(2350-2352)aAc>aTc p.N784I E2F8_ENST00000250024.4_Missense_Mutation_p.N784I|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 784 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGAGTCATAGTTGGTGGCCCT 0.498000 17 129 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111671550 111671550 + Silent SNP C C T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr3:111671550C>T ENST00000431670.2 + 11 3174 c.2763C>T c.(2761-2763)atC>atT p.I921I PHLDB2_ENST00000393925.3_Silent_p.I921I|PHLDB2_ENST00000412622.1_Silent_p.I878I|PHLDB2_ENST00000481953.1_Silent_p.I878I|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Silent_p.I905I NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 921 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GGAGAAGCATCACCCCAAAGG 0.453000 16 59 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 66 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086968 100086968 + Missense_Mutation SNP G G T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr7:100086968G>T ENST00000423930.1 + 4 1783 c.1624G>T c.(1624-1626)Gta>Tta p.V542L NYAP1_ENST00000300179.2_Missense_Mutation_p.V542L|NYAP1_ENST00000454988.1_Missense_Mutation_p.V485L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 542 GGACCCAACTGTAGGCCCCCT 0.687000 12 13 1.15919e-05 1.18192e-05 1 1 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 4 105 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12577553 12577553 + Missense_Mutation SNP T T C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr19:12577553T>C ENST00000397732.3 - 2 286 c.115A>G c.(115-117)Aac>Gac p.N39D CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.N39D|ZNF709_ENST00000428311.1_Missense_Mutation_p.N39D NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 GAGGCCAAGTTAACAAAGGTT 0.428000 5 45 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153784245 153784245 + Missense_Mutation SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr1:153784245G>A ENST00000368655.4 - 10 1853 c.1610C>T c.(1609-1611)cCc>cTc p.P537L NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 537 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGACAACTGGGGTGCCTGTGC 0.517000 3 107 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127548295 127548295 + Silent SNP A A G TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr10:127548295A>G ENST00000284690.3 - 3 1216 c.726T>C c.(724-726)ccT>ccC p.P242P DHX32_ENST00000284688.6_Silent_p.P242P NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 242 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAACCTCCACAGGGTGTTTAT 0.403000 18 91 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72718830 72718830 + Silent SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr7:72718830G>A ENST00000428206.1 - 6 568 c.555C>T c.(553-555)gaC>gaT p.D185D NSUN5_ENST00000438747.2_Silent_p.D223D|NSUN5_ENST00000252594.6_Silent_p.D223D|NSUN5_ENST00000310326.8_Silent_p.D223D NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 223 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) CTGGCGGGGGGTCCAGCAGCA 0.617000 3 52 0 0 1 0 0 AMICA1 120425 broad.mit.edu 37 11 118068757 118068757 + Missense_Mutation SNP C C G rs139352792 TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr11:118068757C>G ENST00000292067.7 - 7 1372 c.931G>C c.(931-933)Gag>Cag p.E311Q AMICA1_ENST00000526620.1_Missense_Mutation_p.E282Q|AMICA1_ENST00000356289.5_Missense_Mutation_p.E321Q|AMICA1_ENST00000533261.1_Missense_Mutation_p.E310Q NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 321 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TCTTTTATCTCTGGATTAGTC 0.438000 OREG0021382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 105 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20859812 20859812 + Silent SNP G G C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr14:20859812G>C ENST00000262715.5 - 13 2083 c.2043C>G c.(2041-2043)gtC>gtG p.V681V TEP1_ENST00000556935.1_Silent_p.V573V NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 681 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CTGTCAGATAGACCAAGACAG 0.532000 22 184 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14293176 14293176 + Missense_Mutation SNP T T C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr5:14293176T>C ENST00000344204.4 + 6 1133 c.1109T>C c.(1108-1110)aTt>aCt p.I370T TRIO_ENST00000537187.1_Missense_Mutation_p.I370T|TRIO_ENST00000509967.2_Missense_Mutation_p.I321T NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 370 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TACACAGAGATTGGGACCAGC 0.493000 26 64 0 0 1 0 0 KIF25 0 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr6:168430272T>A ENST00000443060.2 + 3 398 c.7T>A c.(7-9)Tgg>Agg p.W3R KIF25_ENST00000351261.3_Missense_Mutation_p.W3R|KIF25_ENST00000354419.2_Missense_Mutation_p.W3R Q9UIL4 KIF25_HUMAN kinesin family member 25 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3R(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.612000 4 181 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr19:22155896A>C ENST00000397126.4 - 4 2088 c.1940T>G c.(1939-1941)aTt>aGt p.I647S ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398000 3 83 0 0 1 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188128 70188128 + Silent SNP G G A rs143824935 TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr2:70188128G>A ENST00000320256.4 - 1 1269 c.693C>T c.(691-693)ggC>ggT p.G231G NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 231 Peptidase A2. protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 TGTCCAGATCGCCATCAGTGA 0.567000 6 88 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90368423 90368423 + Missense_Mutation SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr6:90368423G>A ENST00000369393.3 - 89 15042 c.14927C>T c.(14926-14928)tCt>tTt p.S4976F MDN1_ENST00000428876.1_Missense_Mutation_p.S4976F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4976 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGCTCCTCAGAGTGTTCTTC 0.532000 12 147 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43414761 43414761 + Missense_Mutation SNP C C T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr19:43414761C>T ENST00000187910.2 - 3 742 c.677G>A c.(676-678)cGc>cAc p.R226H PSG6_ENST00000292125.2_Missense_Mutation_p.R226H|PSG6_ENST00000402603.4_Missense_Mutation_p.R226H NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TGGGTCACTGCGGCTGGCACT 0.522000 14 291 0 0 1 0 0 DPH1 1801 broad.mit.edu 37 17 1943643 1943643 + Missense_Mutation SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr17:1943643G>A ENST00000263083.6 + 8 941 c.896G>A c.(895-897)cGc>cAc p.R299H DPH1_ENST00000570477.1_Missense_Mutation_p.R219H NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 299 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 ACTTTGGGCCGCCAGGGCAGT 0.602000 14 61 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63672399 63672399 + Silent SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr11:63672399G>A ENST00000402010.2 + 16 2397 c.1818G>A c.(1816-1818)cgG>cgA p.R606R MARK2_ENST00000361128.5_Silent_p.R552R|MARK2_ENST00000509502.2_Silent_p.R572R|MARK2_ENST00000377810.3_Silent_p.R518R|MARK2_ENST00000425897.2_Silent_p.R526R|MARK2_ENST00000513765.2_Silent_p.R573R|MARK2_ENST00000377809.4_Silent_p.R606R|MARK2_ENST00000502399.3_Silent_p.R605R|MARK2_ENST00000408948.3_Silent_p.R518R|MARK2_ENST00000508192.1_Silent_p.R551R|MARK2_ENST00000413835.2_Silent_p.R552R|MARK2_ENST00000350490.7_Silent_p.R551R|MARK2_ENST00000315032.8_Silent_p.R606R NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 606 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GACAGGTGCGGGACCAGCAGA 0.642000 4 145 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014565 53014565 + Missense_Mutation SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr19:53014565G>A ENST00000421239.2 + 6 1175 c.931G>A c.(931-933)Ggt>Agt p.G311S CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATGTCACACTGGTGAGAAACC 0.418000 3 93 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50149344 50149344 + Missense_Mutation SNP G G C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr2:50149344G>C ENST00000404971.1 - 24 5721 c.4382C>G c.(4381-4383)gCa>gGa p.A1461G NRXN1_ENST00000402717.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401669.2_Missense_Mutation_p.A1421G|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1391G|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1391G|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1413G|NRXN1_ENST00000401710.1_Missense_Mutation_p.A409G|NRXN1_ENST00000342183.5_Missense_Mutation_p.A356G NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1391 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GATCACTTCTGCTGAGCCTGG 0.532000 21 40 0 0 1 0 0 HIBADH 11112 broad.mit.edu 37 7 27570874 27570874 + Silent SNP C C A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr7:27570874C>A ENST00000265395.2 - 7 995 c.789G>T c.(787-789)gtG>gtT p.V263V NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 263 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) CGCCATCCATCACTCCAGGTA 0.443000 6 71 0.00307968 0.00307968 1 1 0 HSP90AA1 3320 broad.mit.edu 37 14 102549628 102549628 + Missense_Mutation SNP C C T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr14:102549628C>T ENST00000334701.7 - 10 2145 c.1864G>A c.(1864-1866)Gac>Aac p.D622N HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D321N|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.D500N NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 500 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GCTACCTGGTCCTTGGTCTCA 0.418000 6 77 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276100 186276100 + Missense_Mutation SNP A A C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr1:186276100A>C ENST00000445192.2 + 7 1294 c.1249A>C c.(1249-1251)Acc>Ccc p.T417P PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 417 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T417P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.652000 4 73 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136112949 136112949 + Missense_Mutation SNP C C G TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chrX:136112949C>G ENST00000298110.1 - 1 884 c.885G>C c.(883-885)gaG>gaC p.E295D NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 295 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CTACACTACTCTCACTGGTCC 0.617000 30 262 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7837370 7837370 + Missense_Mutation SNP A A T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr1:7837370A>T ENST00000054666.6 + 3 338 c.223A>T c.(223-225)Aat>Tat p.N75Y VAMP3_ENST00000470357.1_Missense_Mutation_p.N47Y NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 75 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) TTGGTGGAAGAATTGCAAGGT 0.448000 3 21 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29196274 29196274 + Missense_Mutation SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr17:29196274G>A ENST00000321990.4 + 13 3700 c.3322G>A c.(3322-3324)Ggt>Agt p.G1108S NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1108 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGATTTCTCGGGTGGCATAGA 0.393000 8 49 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124992869 124992869 + Missense_Mutation SNP G G T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr8:124992869G>T ENST00000522917.1 + 11 1434 c.1228G>T c.(1228-1230)Gca>Tca p.A410S FER1L6_ENST00000399018.1_Missense_Mutation_p.A410S NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 410 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) CTCAGGACGGGCACAGGAATC 0.468000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 107 7.41877e-09 7.71552e-09 1 1 0 CXCR1 3577 broad.mit.edu 37 2 219029655 219029655 + Missense_Mutation SNP T T C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr2:219029655T>C ENST00000295683.2 - 2 400 c.280A>G c.(280-282)Atc>Gtc p.I94V NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 94 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GCGGCCCAGATGGGCAAGGTC 0.557000 41 87 0 0 1 0 0 LYAR 55646 broad.mit.edu 37 4 4276212 4276212 + Silent SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr4:4276212G>A ENST00000343470.4 - 7 954 c.714C>T c.(712-714)gtC>gtT p.V238V LYAR_ENST00000452476.1_Silent_p.V238V NM_017816.2 NP_060286.1 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 238 Lys-rich. nucleolus metal ion binding|protein binding endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGCCTCAGGGACTTCCTCCC 0.547000 114 133 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42610592 42610592 + Silent SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr22:42610592G>A ENST00000359486.3 - 1 856 c.720C>T c.(718-720)tcC>tcT p.S240S TCF20_ENST00000335626.4_Silent_p.S240S NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 240 Ser-rich. 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 aggaggaggaggaAGCAGAAG 0.512000 3 75 0 0 1 0 0 LEMD2 221496 broad.mit.edu 37 6 33744785 33744785 + Missense_Mutation SNP T T C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr6:33744785T>C ENST00000293760.5 - 8 1326 c.1307A>G c.(1306-1308)tAt>tGt p.Y436C LEMD2_ENST00000508327.1_Missense_Mutation_p.Y134C NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 436 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TACATATGGATAGCGCTCCAT 0.622000 12 69 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33141287 33141287 + Missense_Mutation SNP C C G TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr6:33141287C>G ENST00000341947.2 - 36 2901 c.2674G>C c.(2674-2676)Gga>Cga p.G892R COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G811R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G806R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G871R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G866R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G832R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G785R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G845R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 892 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCGGGGGTCCTTTCGGTCCA 0.612000 11 103 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57640655 57640655 + Missense_Mutation SNP C C T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr12:57640655C>T ENST00000332782.2 - 6 736 c.535G>A c.(535-537)Gaa>Aaa p.E179K STAC3_ENST00000554578.1_Missense_Mutation_p.E140K|STAC3_ENST00000546246.2_5'UTR NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 179 intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 CGCAGGGTTTCAAACACAGGA 0.507000 12 230 0 0 1 0 0 ETV5 2119 broad.mit.edu 37 3 185766571 185766571 + Missense_Mutation SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr3:185766571G>A ENST00000306376.5 - 13 1636 c.1390C>T c.(1390-1392)Cgt>Tgt p.R464C ETV5_ENST00000434744.1_Missense_Mutation_p.R464C|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.R506C NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 464 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) AGGAACGGACGCTGGTTATCC 0.577000 T """TMPRSS2, SCL45A3""" Prostate 28 31 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36118962 36118962 + Missense_Mutation SNP C C G TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr9:36118962C>G ENST00000377966.3 + 18 3028 c.2462C>G c.(2461-2463)cCg>cGg p.P821R NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 821 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) ATCATCCCACCGGGTAGGCTG 0.557000 7 148 0 0 1 0 0 RPUSD1 113000 broad.mit.edu 37 16 837116 837116 + Missense_Mutation SNP C C T rs2272898 byFrequency TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr16:837116C>T ENST00000561734.1 - 3 613 c.370G>A c.(370-372)Gag>Aag p.E124K RPUSD1_ENST00000007264.2_Missense_Mutation_p.E124K|RPUSD1_ENST00000565809.1_Intron|RPUSD1_ENST00000567114.1_5'UTR Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 1 124 E -> Q (in dbSNP:rs2272898). pseudouridine synthesis pseudouridine synthase activity|RNA binding endometrium(3)|lung(2)|skin(2) 7 Hepatocellular(780;0.00335) GCCCGGCCCTCCGTGCTGTTC 0.692000 4 55 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105421471 105421471 + Silent SNP C C T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr14:105421471C>T ENST00000333244.5 - 6 593 c.474G>A c.(472-474)caG>caA p.Q158Q NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 158 PDZ. nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TACTGAGCAGCTGATCCCCTA 0.502000 4 81 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 44 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45656993 45656993 + Missense_Mutation SNP T T C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr14:45656993T>C ENST00000267430.5 + 19 4767 c.4682T>C c.(4681-4683)aTg>aCg p.M1561T FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.M1535T NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1561 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GATTCTGAAATGAGAGCTATT 0.254000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 14 8 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100209825 100209825 + Silent SNP G G C rs143928698 TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr2:100209825G>C ENST00000317233.4 - 14 2533 c.2298C>G c.(2296-2298)ctC>ctG p.L766L AFF3_ENST00000409236.1_Silent_p.L766L|AFF3_ENST00000409579.1_Silent_p.L791L|AFF3_ENST00000356421.2_Silent_p.L791L NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 766 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TTTTGACCCAGAGAGACCTGA 0.582000 3 67 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2827692 2827692 + Silent SNP C C T TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr19:2827692C>T ENST00000317243.5 + 3 402 c.204C>T c.(202-204)aaC>aaT p.N68N ZNF554_ENST00000591265.1_Silent_p.N68N NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 68 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCAGAAGAACCTGTACAGAG 0.483000 14 50 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659166 50659166 + Missense_Mutation SNP T T C rs145066767 TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr22:50659166T>C ENST00000439308.2 - 16 4114 c.3622A>G c.(3622-3624)Acc>Gcc p.T1208A TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1208 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGTGGCCGGGTGGGAGCCATG 0.622000 4 115 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14003691 14003691 + Missense_Mutation SNP T T C TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr19:14003691T>C ENST00000454313.1 - 5 359 c.301A>G c.(301-303)Agg>Ggg p.R101G C19orf57_ENST00000591586.1_Missense_Mutation_p.R101G|C19orf57_ENST00000346736.2_Missense_Mutation_p.R101G|C19orf57_ENST00000586783.1_Missense_Mutation_p.R101G Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 101 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGAACAAACCTCCCGAATGAG 0.458000 23 29 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160105253 160105253 + Silent SNP G G A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr1:160105253G>A ENST00000361216.3 + 16 2234 c.2145G>A c.(2143-2145)ggG>ggA p.G715G ATP1A2_ENST00000392233.3_Silent_p.G715G|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 715 G -> R (in FHM2; de novo mutation in a sporadic case). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGGGTGACGGGGTGAACGACT 0.602000 5 116 0 0 1 0 0 AC010745.2 0 broad.mit.edu 37 2 16409482 16409483 + RNA INS - - C rs142105920 by1000genomes TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr2:16409482_16409483insC ENST00000420404.1 + 0 289 TCCTTCCTGGGaccccgccccg 0.604 7 7 --- --- --- --- LINC00499 0 broad.mit.edu 37 4 139233976 139233978 + RNA DEL CTC CTC - TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr4:139233976_139233978delCTC ENST00000510736.1 + 0 106 ctgcccctttctcctcctcctcc 0.498 3 5 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 33942665 33942667 + RNA DEL CAG CAG - TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr13:33942665_33942667delCAG ENST00000454681.2 - 0 308 TAGCAAGAAAcagcagcagcagc 0.419 2 4 --- --- --- --- OGFOD1 55239 broad.mit.edu 37 16 56501895 56501895 + Frame_Shift_Del DEL G G - TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr16:56501895delG ENST00000566157.1 + 8 988 c.865delG c.(865-867)aafs p.E289fs OGFOD1_ENST00000568397.1_Frame_Shift_Del_p.E246fs NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 289 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) AGAGTTTGAAGAAAGTTCTGA 0.383 7 45 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72831862 72831863 + Frame_Shift_Ins INS - - A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr16:72831862_72831863insA ENST00000268489.5 - 9 5390_5391 c.4718_4719insT c.(4717-4719)taafs p.*1573fs ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.*659fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1573 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGGCTCTCTTTAACTTATGCAG 0.470 8 77 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053797 90053797 + RNA DEL G G - TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr16:90053797delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.647 3 5 --- --- --- --- MAP3K3 4215 broad.mit.edu 37 17 61744386 61744387 + Frame_Shift_Ins INS - - C rs144320687 TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr17:61744386_61744387insC ENST00000361357.3 + 7 879_880 c.561_562insC c.(559-564)caccccfs p.HP187fs MAP3K3_ENST00000361733.3_Frame_Shift_Ins_p.HP156fs|MAP3K3_ENST00000584573.1_Frame_Shift_Ins_p.HP187fs|MAP3K3_ENST00000577395.1_Frame_Shift_Ins_p.HP156fs|MAP3K3_ENST00000579585.1_Frame_Shift_Ins_p.HP187fs NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 156 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CTATCTACCAGCCCCCCGAGCC 0.490 45 70 --- --- --- --- HELZ2 85441 broad.mit.edu 37 20 62198499 62198499 + Frame_Shift_Del DEL C C - TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr20:62198499delC ENST00000467148.1 - 6 2281 c.2212delG c.(2212-2214)tcfs p.V738fs HELZ2_ENST00000427522.2_Frame_Shift_Del_p.V169fs NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TCGTGGAAGACCAGGCGGCTC 0.667 38 68 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18843613 18843613 + RNA DEL G G - TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr22:18843613delG ENST00000412938.1 + 0 2337 AGGAGAGGCAGGGGCGGGGGT 0.622 2 4 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-EL-A3MX-01A-11D-A21A-08 TCGA-EL-A3MX-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2442442-d6ab-45c6-8fb7-783736a7d048 9e7e34b0-dab7-4517-b500-18ced11ea4c4 g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 4 3 --- --- --- ---