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 DNAJC21 134218 broad.mit.edu 37 5 34954066 34954066 + Missense_Mutation SNP T T C TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:34954066T>C ENST00000382021.2 + 12 1756 c.1529T>C c.(1528-1530)aTg>aCg p.M510T DNAJC21_ENST00000342382.4_Missense_Mutation_p.M465T|DNAJC21_ENST00000303525.7_Missense_Mutation_p.M478T NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 465 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) ACCAAAGATATGAAAAAACCT 0.318000 4 127 0 0 0.014758 0 0 CCL23 6368 broad.mit.edu 37 17 34340319 34340319 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr17:34340319C>T ENST00000293280.2 - 4 402 c.332G>A c.(331-333)tGt>tAt p.C111Y CCL23_ENST00000591423.1_Missense_Mutation_p.C94Y NM_005064.3 NP_005055.2 P55773 CCL23_HUMAN chemokine (C-C motif) ligand 23 94 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) GGGGTTGGCACAGAAACGTCG 0.522000 20 24 0 0 0.062417 0 0 TREX1 11277 broad.mit.edu 37 3 48508560 48508560 + Nonsense_Mutation SNP C C G TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr3:48508560C>G ENST00000296443.9 + 3 1393 c.506C>G c.(505-507)tCa>tGa p.S169* TREX1_ENST00000422277.2_Nonsense_Mutation_p.S224*|TREX1_ENST00000433541.1_Nonsense_Mutation_p.S30*|TREX1_ENST00000436480.2_Nonsense_Mutation_p.S169*|TREX1_ENST00000444177.1_Nonsense_Mutation_p.S159*|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000456089.1_Nonsense_Mutation_p.S30* Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 224 R -> H (in AGS1 and systemic lupus erythematosus). cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AGCAGCCCCTCAGAACACGGC 0.612000 3 99 0 0 0.004672 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18499700 18499700 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr12:18499700C>T ENST00000433979.1 + 11 1671 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.P519S NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 519 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CTATCTAAATCCCGGGCTTCC 0.448000 41 57 0 0 0.092188 0 0 TMX2 51075 broad.mit.edu 37 11 57506197 57506197 + Missense_Mutation SNP A A T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr11:57506197A>T ENST00000278422.4 + 5 515 c.503A>T c.(502-504)aAt>aTt p.N168I TMX2_ENST00000378312.4_Missense_Mutation_p.N130I|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 168 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 AATTGGTCTAATGACTGCCAA 0.488000 5 299 0 0 0.014758 0 0 DNM1P47 0 broad.mit.edu 37 15 102292953 102292953 + RNA SNP T T C TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr15:102292953T>C ENST00000561463.1 + 0 999 GGCACAGCGGTGCGACGAGAT 0.587000 3 8 0 0 0.009096 0 0 SLC6A3 6531 broad.mit.edu 37 5 1443103 1443103 + Silent SNP G G C TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:1443103G>C ENST00000270349.9 - 2 337 c.210C>G c.(208-210)ctC>ctG p.L70L SLC6A3_ENST00000453492.2_Silent_p.L70L NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 70 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGACGGACAGGAGAAAGTCGA 0.612000 4 121 0 0 0.009096 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 3 77 0 0 0.029380 0 0 ADAM21P1 0 broad.mit.edu 37 14 70713736 70713736 + RNA SNP A A T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr14:70713736A>T ENST00000530196.1 - 0 782 NR_003951.1 GGTTCACCACAACAACGAGCT 0.438000 5 194 0 0 0.020292 0 0 MAGI2 9863 broad.mit.edu 37 7 77973161 77973161 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr7:77973161C>T ENST00000354212.4 - 9 1595 c.1342G>A c.(1342-1344)Gag>Aag p.E448K MAGI2_ENST00000419488.1_Missense_Mutation_p.E448K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E280K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E285K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E448K NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 448 PDZ 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGCAGAAACTCATCAGGCTCG 0.473000 43 55 0 0 0.045515 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56736373 56736373 + Missense_Mutation SNP A A T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr19:56736373A>T ENST00000587340.1 - 4 738 c.43T>A c.(43-45)Tgc>Agc p.C15S ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.C15S|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.C15S Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 15 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GGTCTGTTGCAGGATTCTCCT 0.468000 8 99 0 0 0.038147 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 8 57 0 0 0.069234 0 0 PCSK1 5122 broad.mit.edu 37 5 95748058 95748058 + Silent SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:95748058C>T ENST00000311106.3 - 7 1083 c.846G>A c.(844-846)cgG>cgA p.R282R PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.R235R NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 282 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTGGGCTAGCCGGCCAGGCC 0.478000 4 127 0 0 0.014758 0 0 ATF4P4 0 broad.mit.edu 37 11 113661349 113661349 + RNA SNP A A G rs1713675 by1000genomes TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr11:113661349A>G ENST00000393544.2 + 0 1397 GGGTATAGATAACCTGGAAAC 0.478000 4 174 0 0 0.009096 0 0 PDK3 5165 broad.mit.edu 37 X 24483609 24483609 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chrX:24483609C>T ENST00000441463.2 + 1 37 c.37C>T c.(37-39)Ccc>Tcc p.P13S PDK3_ENST00000379162.4_Missense_Mutation_p.P13S NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 13 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GCAGCCGGTGCCCAAGCAGAT 0.687000 8 16 0 0 0.038147 0 0 PRSS8 5652 broad.mit.edu 37 16 31144049 31144049 + Silent SNP G G A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr16:31144049G>A ENST00000317508.6 - 4 755 c.492C>T c.(490-492)aaC>aaT p.N164N PRSS8_ENST00000568261.1_Silent_p.N110N NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 164 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 AGTGGAGGCCGTTGGGGAAGG 0.652000 4 139 0 0 0.014758 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48254336 48254336 + Silent SNP G G A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr19:48254336G>A ENST00000246802.5 + 4 608 c.570G>A c.(568-570)cgG>cgA p.R190R GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 190 RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) CCGTAGAGCGGCCCTTCTACG 0.647000 11 16 0 0 0.024245 0 0 DMRT3 58524 broad.mit.edu 37 9 990617 990617 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr9:990617C>T ENST00000190165.2 + 2 1069 c.1031C>T c.(1030-1032)gCc>gTc p.A344V NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 344 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGGTTTTCTGCCGACTCTAGC 0.582000 4 158 0 0 0.014758 0 0 SLC46A1 113235 broad.mit.edu 37 17 26733056 26733056 + Missense_Mutation SNP T T G TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr17:26733056T>G ENST00000440501.1 - 1 172 c.77A>C c.(76-78)gAg>gCg p.E26A CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Missense_Mutation_p.E26A NM_080669.4 NP_542400.2 Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 26 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) GACCAGCGGCTCTACCGGGCC 0.716000 6 9 0 0 0.038147 0 0 FNIP1 96459 broad.mit.edu 37 5 131008166 131008166 + Silent SNP T T C TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:131008166T>C ENST00000307968.7 - 13 1886 c.1887A>G c.(1885-1887)gaA>gaG p.E629E FNIP1_ENST00000307954.8_Silent_p.E612E|FNIP1_ENST00000510461.1_Silent_p.E657E|FNIP1_ENST00000514667.1_Intron NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CAGCATTTTCTTCTTGGCAGT 0.393000 11 323 0 0 0.069234 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 4 16 0 0 0.021553 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 87 0 0 0.004672 0 0 ADAM21 8747 broad.mit.edu 37 14 70924858 70924858 + Silent SNP T T A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr14:70924858T>A ENST00000603540.1 + 2 900 c.642T>A c.(640-642)gtT>gtA p.V214V RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V214V NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 214 Peptidase M12B.|Poly-Val. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGCTAGTTGTTGTGGTGAACC 0.433000 71 79 0 0 0.048971 0 0 GRB10 2887 broad.mit.edu 37 7 50674044 50674044 + Missense_Mutation SNP G G A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr7:50674044G>A ENST00000403097.1 - 13 2024 c.1244C>T c.(1243-1245)tCg>tTg p.S415L GRB10_ENST00000398812.2_Missense_Mutation_p.S421L|GRB10_ENST00000335866.3_Missense_Mutation_p.S363L|GRB10_ENST00000407526.1_Missense_Mutation_p.S363L|GRB10_ENST00000402497.1_Missense_Mutation_p.S363L|GRB10_ENST00000357271.5_Missense_Mutation_p.S375L|GRB10_ENST00000402578.1_Missense_Mutation_p.S363L|GRB10_ENST00000398810.2_Missense_Mutation_p.S363L|GRB10_ENST00000439599.1_Missense_Mutation_p.S415L|GRB10_ENST00000406641.1_Missense_Mutation_p.S363L|GRB10_ENST00000401949.1_Missense_Mutation_p.S421L Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 421 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CACTGGCGTCGAGAACGGGGA 0.527000 Russell-Silver syndrome 10 209 0 0 0.069234 0 0 PLCE1 51196 broad.mit.edu 37 10 96066243 96066243 + Silent SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr10:96066243C>T ENST00000260766.3 + 26 6316 c.5682C>T c.(5680-5682)gtC>gtT p.V1894V PLCE1_ENST00000371385.3_Silent_p.V1586V|PLCE1_ENST00000371380.2_Silent_p.V1894V|PLCE1_ENST00000371375.1_Silent_p.V1586V NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1894 C2. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GCATTGAAGTCGACGTCCTGG 0.537000 29 183 0 0 0.108266 0 0 ERBB3 2065 broad.mit.edu 37 12 56495733 56495733 + Missense_Mutation SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr12:56495733C>T ENST00000267101.3 + 28 4363 c.3923C>T c.(3922-3924)gCc>gTc p.A1308V ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V|ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V|RP11-603J24.9_ENST00000548861.1_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1308 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GTCCATTATGCCCGCCTAAAA 0.527000 5 310 0 0 0.021553 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce 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 58 77 0 0 0.048971 0 0 MATR3 9782 broad.mit.edu 37 5 138643134 138643134 + Silent SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:138643134C>T ENST00000394800.2 + 6 579 c.30C>T c.(28-30)ctC>ctT p.L10L MATR3_ENST00000502499.1_Intron|MATR3_ENST00000510056.1_Silent_p.L10L|MATR3_ENST00000509990.1_Silent_p.L10L|MATR3_ENST00000394805.3_Silent_p.L10L|MATR3_ENST00000361059.2_Silent_p.L10L|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.L10L P43243 MATR3_HUMAN matrin 3 10 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGTCATCTCTCAGTAGGGACT 0.428000 8 193 0 0 0.038147 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 5 178 0 0 0.029380 0 0 BATF 10538 broad.mit.edu 37 14 76012817 76012817 + Silent SNP C C T TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr14:76012817C>T ENST00000286639.6 + 3 439 c.181C>T c.(181-183)Ctg>Ttg p.L61L BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron NM_006399.3 NP_006390.1 Q16520 BATF_HUMAN basic leucine zipper transcription factor, ATF-like 61 Leucine-zipper. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.028) GAGCGAAGACCTGGAGAAACA 0.597000 7 65 0 0 0.038147 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232375 1232375 + Missense_Mutation SNP G G A TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr5:1232375G>A ENST00000324642.3 + 2 325 c.202G>A c.(202-204)Ggg>Agg p.G68R SLC6A18_ENST00000296821.4_Missense_Mutation_p.G68R NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 68 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGTCTTCGAGGGGATCCCCAT 0.687000 20 16 0 0 0.099896 0 0 MTX1 4580 broad.mit.edu 37 1 155178692 155178695 + Frame_Shift_Del DEL CAGA CAGA - TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr1:155178692_155178695delCAGA ENST00000368376.3 + 1 203_206 c.97_100delCAGA c.(97-102)ccfs p.QT33fs MTX1_ENST00000316721.4_Frame_Shift_Del_p.QT33fs NM_002455.3 NP_002446.2 Q13505 MTX1_HUMAN metaxin 1 33 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CAAGAGCCCCCAGACCTGGCCCAG 0.711 12 32 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88874269 88874270 + Frame_Shift_Del DEL CT CT - TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr2:88874269_88874270delCT ENST00000303236.3 - 13 3032_3033 c.2731_2732delAG c.(2731-2733)gfs p.R911fs AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|EIF2AK3_ENST00000470706.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 911 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ACACACGCTCCTCTCTCTCTCC 0.465 10 208 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292971 102292974 + RNA DEL CTCA CTCA - rs75843814 TCGA-DE-A0Y3-01B-11D-A10S-08 TCGA-DE-A0Y3-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7dfcfe29-3900-4d7b-8067-60c51584b0b1 22898cc2-01f2-4e03-a2a5-a4c6f9f836ce g.chr15:102292971_102292974delCTCA ENST00000561463.1 + 0 1017_1020 GATGCTGCTTCTCAGAGCTGCTGT 0.583 4 8 --- --- --- ---