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 KAT6B 23522 broad.mit.edu 37 10 76603076 76603076 + Missense_Mutation SNP T T G TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr10:76603076T>G ENST00000287239.4 + 3 950 c.461T>G c.(460-462)cTg>cGg p.L154R KAT6B_ENST00000372711.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372714.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372725.1_Missense_Mutation_p.L154R|KAT6B_ENST00000372724.1_Missense_Mutation_p.L154R NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 154 H15. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CGGCTGCGACTGGGGGCCAAA 0.522000 3 63 0 0 0.004672 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73156663 73156663 + Missense_Mutation SNP C C T TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr4:73156663C>T ENST00000286657.4 - 20 2876 c.2840G>A c.(2839-2841)aGc>aAc p.S947N NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 947 TSP type-1 3. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCAGTATTTGCTGTGCACAGA 0.582000 3 79 0 0 0.004672 0 0 CDC6 990 broad.mit.edu 37 17 38451657 38451657 + Missense_Mutation SNP G G A rs4135016 byFrequency TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr17:38451657G>A ENST00000209728.4 + 8 1604 c.1133G>A c.(1132-1134)cGc>cAc p.R378H NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 378 R -> H (in dbSNP:rs4135016). cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 TTCTGTGCCCGCAAAGTCTCT 0.403000 4 117 0 0 0.014758 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 3 49 0 0 0.004672 0 0 OR1J2 26740 broad.mit.edu 37 9 125273560 125273560 + Silent SNP C C T TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr9:125273560C>T ENST00000335302.5 + 1 480 c.480C>T c.(478-480)acC>acT p.T160T NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 TCTCTCACACCCTTCTCCTGA 0.537000 8 76 0 0 0.047766 0 0 METTL2B 55798 broad.mit.edu 37 7 128119449 128119449 + Missense_Mutation SNP G G A TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr7:128119449G>A ENST00000480046.1 + 2 360 c.245G>A c.(244-246)aGc>aAc p.S82N METTL2B_ENST00000262432.8_Missense_Mutation_p.S147N Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 147 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TCTTCGAAGAGCCTTGAACAT 0.418000 18 89 0 0 0.043863 0 0 FAM86C1 55199 broad.mit.edu 37 11 71502813 71502813 + Missense_Mutation SNP A A C TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr11:71502813A>C ENST00000426628.2 + 3 207 c.188A>C c.(187-189)cAc>cCc p.H63P FAM86C1_ENST00000528685.1_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron NM_001099653.1 NP_001093123.1 Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 60 p.H63P(1) lung(1) 1 TGTGTGAAGCACCCGCCGTCA 0.532000 4 40 0 0 0.038147 0 0 CD1A 909 broad.mit.edu 37 1 158225840 158225840 + Silent SNP A A G TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr1:158225840A>G ENST00000289429.5 + 3 905 c.372A>G c.(370-372)ggA>ggG p.G124G NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 124 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TGCACTCTGGAAAGGTCTCAG 0.428000 4 79 0 0 0.014758 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 19 0 0 0.004672 0 0 DNAH7 56171 broad.mit.edu 37 2 196913064 196913064 + Missense_Mutation SNP T T C TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr2:196913064T>C ENST00000312428.6 - 4 306 c.206A>G c.(205-207)gAt>gGt p.D69G DNAH7_ENST00000410072.1_Missense_Mutation_p.D69G NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 69 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGGACTCTCATCATCCTGCTT 0.358000 6 37 0 0 0.021553 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142150381 142150381 + Nonsense_Mutation SNP C C T TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr5:142150381C>T ENST00000378004.3 + 1 410 c.55C>T c.(55-57)Cga>Tga p.R19* ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.R19* NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 19 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGCACTTCCGAGAGACGCT 0.647000 5 23 0 0 0.014758 0 0 MKL1 57591 broad.mit.edu 37 22 40815091 40815091 + Missense_Mutation SNP G G A TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr22:40815091G>A ENST00000396617.3 - 12 1941 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S MKL1_ENST00000402042.1_Missense_Mutation_p.P401S|MKL1_ENST00000355630.3_Missense_Mutation_p.P451S|MKL1_ENST00000407029.1_Missense_Mutation_p.P451S Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 451 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GACACGGGGGGCGTGGAGCCC 0.677000 T RBM15 acute megakaryocytic leukemia 5 3 0 0 0.014758 0 0 GRIK3 2899 broad.mit.edu 37 1 37346338 37346338 + Silent SNP G G A TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr1:37346338G>A ENST00000373091.3 - 3 463 c.447C>T c.(445-447)taC>taT p.Y149Y GRIK3_ENST00000373093.4_Silent_p.Y149Y NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 149 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGAGGTTCACGTAGAAGGTGT 0.602000 8 82 0 0 0.047766 0 0 TNRC18 84629 broad.mit.edu 37 7 5399130 5399130 + Missense_Mutation SNP C C G TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr7:5399130C>G ENST00000399537.4 - 15 5080 c.4732G>C c.(4732-4734)Ggg>Cgg p.G1578R TNRC18_ENST00000430969.1_Missense_Mutation_p.G1578R O15417 TNC18_HUMAN trinucleotide repeat containing 18 1578 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TCCTCAGACCCCTTGTGTCTC 0.542000 30 139 0 0 0.037714 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570455 47570455 + Missense_Mutation SNP G G A TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr19:47570455G>A ENST00000253048.5 - 15 3107 c.3070C>T c.(3070-3072)Cgg>Tgg p.R1024W ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1024 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGGCGCTGCCGGGCGTTGGGG 0.706000 12 9 0 0 0.105934 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 42 0 0 0.004672 0 0 MSI1 4440 broad.mit.edu 37 12 120802533 120802533 + Missense_Mutation SNP C C T TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr12:120802533C>T ENST00000257552.2 - 5 381 c.293G>A c.(292-294)cGg>cAg p.R98Q NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 98 RRM 1. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGTGCTCGCCGAGGGAAGGC 0.522000 46 90 0 0 0.048971 0 0 ACLY 47 broad.mit.edu 37 17 40034394 40034394 + Missense_Mutation SNP G G A TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr17:40034394G>A ENST00000352035.2 - 22 2579 c.2449C>T c.(2449-2451)Ccg>Tcg p.P817S ACLY_ENST00000590151.1_Missense_Mutation_p.P817S|ACLY_ENST00000393896.2_Missense_Mutation_p.P807S|ACLY_ENST00000353196.1_Missense_Mutation_p.P807S|ACLY_ENST00000537919.1_Missense_Mutation_p.P546S NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 817 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) GTTGGGGGCGGCACCTCCTGG 0.522000 3 34 0 0 0.004672 0 0 DGKB 1607 broad.mit.edu 37 7 14378197 14378198 + Frame_Shift_Ins INS - - T TCGA-EM-A1YE-01A-11D-A14W-08 TCGA-EM-A1YE-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d6e12e0-19a7-4e52-84a2-707bfc16568d 7b7c2ab5-956b-4389-8f0f-bcb0e5c95ccf g.chr7:14378197_14378198insT ENST00000403951.2 - 23 2486_2487 c.2067_2068insA c.(2065-2070)aaggtcfs p.V690fs DGKB_ENST00000402815.1_Frame_Shift_Ins_p.V689fs|DGKB_ENST00000399322.3_Frame_Shift_Ins_p.V690fs|DGKB_ENST00000444700.2_Frame_Shift_Ins_p.V671fs|DGKB_ENST00000258767.5_Frame_Shift_Ins_p.V690fs|DGKB_ENST00000407950.1_Frame_Shift_Ins_p.V682fs|DGKB_ENST00000406247.3_Frame_Shift_Ins_p.V690fs|DGKB_ENST00000403963.1_5'UTR Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 690 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TTGTCAGACCCTTTTTTCTCTA 0.401 29 52 --- --- --- ---