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 SP4 6671 broad.mit.edu 37 7 21469100 21469100 + Missense_Mutation SNP C C T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr7:21469100C>T uc003sva.3 + 2 498 c.317C>T c.(316-318)gCc>gTc p.A106V SP4_uc003svb.3_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Homo sapiens Sp4 transcription factor (SP4), mRNA. 106 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding p.A106V(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 CAACTTGTTGCCTCCACTCCT 0.438000 20 32 0 0 1 0 0 C10orf53 282966 broad.mit.edu 37 10 50902594 50902594 + Silent SNP T T C TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr10:50902594T>C uc001jib.3 + 2 288 c.228T>C c.(226-228)ggT>ggC p.G76G C10orf53_uc001jic.1_3'UTR|C10orf53_uc001jid.1_Intron NM_001042427 NP_001035892 Q8N6V4 CJ053_HUMAN Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 2, mRNA. 76 p.T76T(2) endometrium(1)|lung(6) 7 all_neural(218;0.107) GAGGCGATGGTAAACTAGACC 0.458000 4 45 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236734652 236734652 + Splice_Site SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr1:236734652G>A uc001hyd.2 - 28 4100 c.3948_splice c.e28+1 p.P1316_splice HEATR1_uc009xgh.2_Splice_Site_p.P478_splice NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 1316 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACGCTTACCGGAAATATTCC 0.403000 3 53 0 0 1 0 0 OR2H2 7932 broad.mit.edu 37 6 29556434 29556434 + Missense_Mutation SNP C C T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr6:29556434C>T uc003nmr.1 + 0 752 c.713C>T c.(712-714)aCc>aTc p.T238I GABBR1_uc003nmp.4_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA. 238 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G237V(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 GCTTTTGGGACCTGCTCCTCC 0.532000 10 68 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99440012 99440012 + Missense_Mutation SNP C C A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr15:99440012C>A uc002bul.3 + 3 1030 c.980C>A c.(979-981)cCt>cAt p.P327H IGF1R_uc010urq.2_Missense_Mutation_p.P327H|IGF1R_uc010bon.3_Missense_Mutation_p.P327H|IGF1R_uc021sxi.1_5'Flank NM_000875 NP_000866 P08069 IGF1R_HUMAN Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA. 327 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TGTGAAGGTCCTTGCCCGAAG 0.393000 3 40 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121097680 121097680 + Missense_Mutation SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr3:121097680G>A uc003eec.4 + 21 2506 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q STXBP5L_uc011bji.2_Missense_Mutation_p.R765Q NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 789 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.R789*(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CCACCATTTCGAAAGGCCCAG 0.398000 17 31 0 0 1 0 0 BTBD17 388419 broad.mit.edu 37 17 72352829 72352829 + Silent SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr17:72352829G>A uc002jkn.2 - 2 1404 c.1404C>T c.(1402-1404)ccC>ccT p.P468P NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA. 468 extracellular region endometrium(1)|kidney(1)|lung(4) 6 TGTGGTATACGGGCTTGACGA 0.652000 3 38 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 33 51 0 0 1 0 0 SPANXN1 494118 broad.mit.edu 37 X 144329165 144329165 + Missense_Mutation SNP A A G TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chrX:144329165A>G uc004fcb.2 + 0 59 c.59A>G c.(58-60)aAc>aGc p.N20S NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN Homo sapiens SPANX family, member N1 (SPANXN1), mRNA. 20 p.S19F(1) endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TGTGAATCCAACAATGAAAAT 0.448000 4 188 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190595298 190595298 + Missense_Mutation SNP C C G TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr2:190595298C>G uc002uqw.2 + 15 3359 c.3271C>G c.(3271-3273)Cta>Gta p.L1091V ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Intron|ANKAR_uc002uqy.2_Missense_Mutation_p.L187V NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 1091 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TATCCAACTACTAAGAAATCA 0.338000 14 27 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15352030 15352030 + RNA SNP G G T TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr21:15352030G>T uc002yji.2 - 0 c.736C>A ANKRD20A11P_uc002yjj.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA. TACCTGTGCTGCTTGTCCAGG 0.716000 4 12 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 100807310 100807310 + Silent SNP C C G TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr13:100807310C>G uc001voo.3 + 4 484 c.378C>G c.(376-378)gcC>gcG p.A126A PCCA_uc010aga.3_Silent_p.A100A|PCCA_uc010tiz.2_Silent_p.A126A NM_000282 NP_000273 P05165 PCCA_HUMAN Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 126 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) ACATGGATGCCATCATGGAAG 0.458000 7 113 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49776583 49776583 + Nonsense_Mutation SNP G G A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr15:49776583G>A uc001zxn.3 + 3 996 c.467G>A c.(466-468)tGg>tAg p.W156* C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron NM_002009 NP_002000 P21781 FGF7_HUMAN Homo sapiens fibroblast growth factor 7 (FGF7), mRNA. 156 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) TCAGCTAAATGGACACACAAC 0.348000 3 66 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79116042 79116042 + Silent SNP T T A TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr1:79116042T>A uc001dip.4 + 1 286 c.162T>A c.(160-162)atT>atA p.I54I IFI44_uc010orr.1_Silent_p.I54I|IFI44_uc010ors.1_Intron NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN Homo sapiens interferon-induced protein 44 (IFI44), mRNA. 54 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 TAACAGTGATTTATAGTGAAG 0.393000 4 153 0 0 1 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493711 65493711 + Frame_Shift_Del DEL G G - TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr8:65493711delG uc003xvi.3 + 0 917 c.364delG c.(364-366)gggfs p.G122fs LOC401463_uc003xvh.3_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA. 122 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 CCTGCCGGCCGGGGCCGCCCT 0.751 2 4 --- --- --- --- GLG1 2734 broad.mit.edu 37 16 74640592 74640592 + Frame_Shift_Del DEL T T - TCGA-DJ-A1QI-01A-11D-A14W-08 TCGA-DJ-A1QI-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9130d132-2f6b-4b7f-a8a6-05556bb0605b fafdd2c4-d678-4dd7-9aee-15d743c9f905 g.chr16:74640592delT uc002fcx.3 - 0 451 c.401delA c.(400-402)aacfs p.N134fs GLG1_uc002fcw.4_Frame_Shift_Del_p.N134fs|GLG1_uc002fcy.4_Frame_Shift_Del_p.N134fs|GLG1_uc002fcz.4_5'UTR NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 134 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CACCGCCAGGTTGTTGCTCCA 0.706 24 49 --- --- --- ---