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 STAG3 10734 broad.mit.edu 37 7 99780445 99780445 + Missense_Mutation SNP G G A TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr7:99780445G>A ENST00000426455.1 + 4 726 c.319G>A c.(319-321)Gcc>Acc p.A107T STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T Q9UJ98 STAG3_HUMAN stromal antigen 3 107 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGTGAAAGCCGCCAAAAGTGA 0.463000 5 303 0 0 0.000602 0 0 TMEM138 51524 broad.mit.edu 37 11 61136166 61136166 + Missense_Mutation SNP G G C TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr11:61136166G>C ENST00000278826.6 + 5 1033 c.474G>C c.(472-474)atG>atC p.M158I TMEM138_ENST00000381787.2_Missense_Mutation_p.M100I NM_016464.4 NP_057548.1 Q9NPI0 TM138_HUMAN transmembrane protein 138 158 integral to membrane central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 AGGAGTTCATGCAAGTTCGAA 0.498000 3 40 0 0 0.004672 0 0 TCF7L2 6934 broad.mit.edu 37 10 114903693 114903693 + Missense_Mutation SNP C C T TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr10:114903693C>T ENST00000545257.1 + 7 1204 c.697C>T c.(697-699)Cct>Tct p.P233S TCF7L2_ENST00000369395.1_Missense_Mutation_p.P258S|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P210S|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P233S|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P257S|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P210S|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P233S|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P233S Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 233 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) AATCCCACGGCCTCCGCACCC 0.522000 T VTI1A colorectal 15 38 0 0 0.004007 0 0 NPAS2 4862 broad.mit.edu 37 2 101554284 101554284 + Missense_Mutation SNP C C T TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr2:101554284C>T ENST00000335681.5 + 5 628 c.343C>T c.(343-345)Cct>Tct p.P115S NPAS2_ENST00000542504.1_Missense_Mutation_p.P180S|NPAS2_ENST00000486017.1_3'UTR NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 115 PAS 1. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGTATCACGCCTCTCCTTGG 0.453000 14 161 0 0 0.002450 0 0 HLA-C 3107 broad.mit.edu 37 6 31239616 31239616 + Missense_Mutation SNP C C A rs150810080 byFrequency TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr6:31239616C>A ENST00000383329.3 - 2 117 c.103G>T c.(103-105)Gcc>Tcc p.A35S HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 35 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CGGGACACGGCGGTGTCGAAA 0.721000 4 38 0.000602214 0.00110406 0.000602 1 0 CHD7 55636 broad.mit.edu 37 8 61735125 61735125 + Silent SNP C C T TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr8:61735125C>T ENST00000423902.2 + 12 3500 c.3021C>T c.(3019-3021)ctC>ctT p.L1007L CHD7_ENST00000525508.1_Silent_p.L1007L|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1007 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTACATTTCTCTATGAGATAT 0.393000 18 132 0 0 0.001523 0 0 PRPF8 10594 broad.mit.edu 37 17 1564035 1564035 + Missense_Mutation SNP C C T TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr17:1564035C>T ENST00000572621.1 - 28 4860 c.4595G>A c.(4594-4596)cGt>cAt p.R1532H PRPF8_ENST00000304992.6_Missense_Mutation_p.R1532H Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1532 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGTGAATCTACGATTGGGAAT 0.502000 5 59 0 0 0.000602 0 0 MKI67 4288 broad.mit.edu 37 10 129906562 129906562 + Missense_Mutation SNP C C T TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr10:129906562C>T ENST00000368654.3 - 13 3917 c.3542G>A c.(3541-3543)gGa>gAa p.G1181E MKI67_ENST00000368653.3_Missense_Mutation_p.G821E NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1181 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTCATCACCTCCTGCTGGTTT 0.468000 15 261 0 0 0.002450 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202531948 202531948 + Silent SNP C C T TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr1:202531948C>T ENST00000406302.3 + 20 2703 c.2550C>T c.(2548-2550)taC>taT p.Y850Y PPP1R12B_ENST00000336894.4_Silent_p.Y850Y|PPP1R12B_ENST00000367270.4_Silent_p.Y76Y|PPP1R12B_ENST00000391959.3_Silent_p.Y76Y|PPP1R12B_ENST00000290419.5_3'UTR NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 850 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GTGATTCTTACGGTGACCGGG 0.493000 4 135 0 0 0.000248 0 0 TXNL1 9352 broad.mit.edu 37 18 54293600 54293600 + Nonsense_Mutation SNP G G A TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr18:54293600G>A ENST00000217515.6 - 2 391 c.187C>T c.(187-189)Cag>Tag p.Q63* TXNL1_ENST00000590954.1_Nonsense_Mutation_p.Q63*|TXNL1_ENST00000540155.1_5'UTR NM_004786.2 NP_004777.1 O43396 TXNL1_HUMAN thioredoxin-like 1 63 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) ACCTGACACTGATGTACATCG 0.343000 7 114 0 0 0.003080 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72117175 72117175 + Missense_Mutation SNP C C G TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr14:72117175C>G ENST00000555818.1 + 5 2290 c.1942C>G c.(1942-1944)Cga>Gga p.R648G SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R648G|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R648G|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R123G NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 648 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ATTGGGAGAGCGAGTTCGGCT 0.443000 8 69 0 0 0.003080 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab 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 14 50 0 0 0.002450 0 0 AK9 221264 broad.mit.edu 37 6 109954219 109954219 + Missense_Mutation SNP C C T TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr6:109954219C>T ENST00000424296.2 - 12 1237 c.1161G>A c.(1159-1161)atG>atA p.M387I AK9_ENST00000285397.5_Missense_Mutation_p.M387I|AK9_ENST00000368948.2_Missense_Mutation_p.M387I|AK9_ENST00000341338.6_5'UTR NM_001145128.2 NP_001138600.2 adenylate kinase 9 GTGGTCCTGGCATAGGTGGAA 0.373000 14 36 0 0 0.004007 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-BJ-A45H-01A-12D-A23U-08 TCGA-BJ-A45H-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bdbc383-8f81-410a-833e-1f039ceabddf 8cb61ce1-4085-4752-9f1e-91d7c1fee6ab g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 3 4 --- --- --- ---