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 MYH7 4625 broad.mit.edu 37 14 23898270 23898270 + Missense_Mutation SNP C C T TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr14:23898270C>T ENST00000355349.3 - 14 1463 c.1301G>A c.(1300-1302)aGg>aAg p.R434K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 434 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTTGAACATCCTCTCATACAC 0.542000 5 122 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428462 179428462 + Missense_Mutation SNP G G T TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr2:179428462G>T ENST00000589042.1 - 326 82621 c.82397C>A c.(82396-82398)cCt>cAt p.P27466H TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18526H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24898H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25825H|TTN_ENST00000460472.2_Missense_Mutation_p.P18401H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18593H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25825 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCTTATAAGGATTACAGGC 0.478000 7 95 0.00198382 0.00207829 1 1 0 PRMT8 56341 broad.mit.edu 37 12 3649791 3649791 + Missense_Mutation SNP A A C TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr12:3649791A>C ENST00000382622.3 + 2 485 c.95A>C c.(94-96)cAg>cCg p.Q32P PRMT8_ENST00000452611.2_Missense_Mutation_p.Q23P|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 32 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CCCCCCTCCCAGCCCCCCCAG 0.652000 10 88 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7045127 7045127 + Missense_Mutation SNP A A G rs149811742 TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr12:7045127A>G ENST00000356654.4 + 5 934 c.697A>G c.(697-699)Atg>Gtg p.M233V ATN1_ENST00000396684.2_Missense_Mutation_p.M233V NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 233 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 TGGACCCCCAATGGGTCCCAA 0.637000 11 32 0 0 1 0 0 CCNK 8812 broad.mit.edu 37 14 99976639 99976639 + Silent SNP G G C TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr14:99976639G>C ENST00000389879.5 + 11 1386 c.1263G>C c.(1261-1263)ccG>ccC p.P421P CCNK_ENST00000555049.1_Intron NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 421 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ACCGGCCCCCGCCCCCACCCC 0.682000 4 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179449515 179449515 + Missense_Mutation SNP G G A TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr2:179449515G>A ENST00000589042.1 - 310 65077 c.64853C>T c.(64852-64854)tCc>tTc p.S21618F TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S12678F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19050F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S19977F|TTN_ENST00000460472.2_Missense_Mutation_p.S12553F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12745F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19977 Fibronectin type-III 57. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACCCTGCAGGAAGTTTTTGT 0.507000 13 254 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173596291 173596291 + Missense_Mutation SNP C C A TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr1:173596291C>A ENST00000333279.2 - 4 564 c.504G>T c.(502-504)agG>agT p.R168S NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 184 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TCAGAGTCAGCCTTGCATCTG 0.428000 4 66 0.000602214 0.000662436 1 1 0 CYB5D1 124637 broad.mit.edu 37 17 7761479 7761479 + Silent SNP G G A TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr17:7761479G>A ENST00000332439.4 + 1 179 c.27G>A c.(25-27)ggG>ggA p.G9G LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Silent_p.G9G|LSMD1_ENST00000570555.1_Intron|CYB5D1_ENST00000571846.1_Silent_p.G9G NM_144607.4 NP_653208.2 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 9 heme binding breast(1)|endometrium(1)|large_intestine(2)|skin(2) 6 all_cancers(10;0.11)|Prostate(122;0.219) TGGTGGCTGGGCCAGACTTGG 0.582000 4 140 0 0 1 0 0 C1QL4 338761 broad.mit.edu 37 12 49730112 49730112 + Missense_Mutation SNP G G T TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr12:49730112G>T ENST00000334221.3 - 1 859 c.149C>A c.(148-150)cCc>cAc p.P50H NM_001008223.1 NP_001008224.1 Q86Z23 C1QL4_HUMAN complement component 1, q subcomponent-like 4 50 collagen large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 CGGGAAGGGGGGCACGGAAGC 0.751000 4 7 0.150653 0.150653 1 1 0 FYCO1 79443 broad.mit.edu 37 3 46009639 46009639 + Missense_Mutation SNP G G A TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr3:46009639G>A ENST00000296137.2 - 8 1392 c.1187C>T c.(1186-1188)gCg>gTg p.A396V FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 396 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CTCCTGGGCCGCATCACTGGG 0.567000 5 260 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432919 67432919 + Silent SNP G G A TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr11:67432919G>A ENST00000349015.3 - 7 981 c.543C>T c.(541-543)ccC>ccT p.P181P ALDH3B2_ENST00000530069.1_Silent_p.P181P NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 181 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) TCTGCAGGGCGGGCAGCAGCC 0.642000 4 138 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 8 244 0 0 1 0 0 KCTD9 54793 broad.mit.edu 37 8 25296836 25296836 + Missense_Mutation SNP C C G TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr8:25296836C>G ENST00000221200.4 - 6 678 c.458G>C c.(457-459)cGt>cCt p.R153P NM_017634.3 NP_060104.2 Q7L273 KCTD9_HUMAN potassium channel tetramerization domain containing 9 153 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 12 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) CTGTCCATGACGCAAGTAGTT 0.353000 4 24 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 9 33 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 7 179 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 7 4 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 11 62 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 5 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70466321 70466321 + Frame_Shift_Del DEL A A - TCGA-EL-A3ZS-01A-12D-A23M-08 TCGA-EL-A3ZS-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c91019ef-9b12-40b6-bb84-8693ba5b2300 91cf9886-bdae-4fa5-b416-19840973079d g.chrX:70466321delA ENST00000373998.1 - 15 3115 c.2418delT c.(2416-2418)ccfs p.P812fs ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P824fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.P824fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P826fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P826fs|ZMYM3_ENST00000489332.1_5'UTR NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 824 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GTGGGGGTGGAGGGGTGGGAG 0.577 2 4 --- --- --- ---