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 PRDM8 56978 broad.mit.edu 37 4 81124557 81124557 + Silent SNP C C T TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr4:81124557C>T ENST00000339711.4 + 10 3172 c.1941C>T c.(1939-1941)caC>caT p.H647H PRDM8_ENST00000504452.1_Silent_p.H647H|PRDM8_ENST00000415738.2_Silent_p.H647H NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 647 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 TGAGGTCGCACCACAAAAAGG 0.597000 13 26 0 0 1 0 0 DCAF12 25853 broad.mit.edu 37 9 34107509 34107509 + Missense_Mutation SNP C C A TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr9:34107509C>A ENST00000361264.4 - 3 729 c.388G>T c.(388-390)Gac>Tac p.D130Y DCAF12_ENST00000463286.1_5'UTR NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 130 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 GGCTCCCGGTCTTTCAGAATG 0.488000 12 57 0.00136819 0.00152022 1 1 0 PCDHB10 0 broad.mit.edu 37 5 140573713 140573713 + Missense_Mutation SNP C C T TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr5:140573713C>T ENST00000239446.4 + 1 1772 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCGAGTTCCGCGTGGGCGC 0.687000 3 105 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 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 24 48 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31532162 31532162 + Missense_Mutation SNP G G C TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr1:31532162G>C ENST00000373747.3 - 2 351 c.252C>G c.(250-252)ttC>ttG p.F84L PUM1_ENST00000426105.2_Missense_Mutation_p.F84L|PUM1_ENST00000440538.2_Missense_Mutation_p.F84L|PUM1_ENST00000373742.2_Missense_Mutation_p.F120L|PUM1_ENST00000424085.2_Missense_Mutation_p.F84L|PUM1_ENST00000257075.5_Missense_Mutation_p.F84L|PUM1_ENST00000423018.2_Missense_Mutation_p.F84L|PUM1_ENST00000373741.4_Missense_Mutation_p.F120L NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 84 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) GCCTCTGAAAGAAGTAGTCCA 0.542000 4 99 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 168 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216390846 216390846 + Missense_Mutation SNP A A G TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr1:216390846A>G ENST00000366943.2 - 15 3426 c.3040T>C c.(3040-3042)Tgt>Cgt p.C1014R USH2A_ENST00000307340.3_Missense_Mutation_p.C1014R|USH2A_ENST00000366942.3_Missense_Mutation_p.C1014R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1014 Laminin EGF-like 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCAAGTGACAGGTTTCATTC 0.403000 HNSCC(13;0.011) 16 37 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102466737 102466737 + Splice_Site SNP G G T TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr14:102466737G>T ENST00000360184.4 + 18 4238 c.e18+1 NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.?(1) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCCTCGAAAGGTATATCATGA 0.403000 12 27 2.27111e-07 2.67189e-07 1 1 0 ADARB1 104 broad.mit.edu 37 21 46624644 46624644 + Missense_Mutation SNP G G C TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr21:46624644G>C ENST00000539173.1 + 10 2295 c.1860G>C c.(1858-1860)ttG>ttC p.L620F ADARB1_ENST00000389863.4_Missense_Mutation_p.L620F|ADARB1_ENST00000348831.4_Missense_Mutation_p.L580F|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.L620F NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 620 A to I editase. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) ACAAGCCTTTGCTCAGTGGCA 0.488000 25 35 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79747297 79747297 + Missense_Mutation SNP G G A TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr12:79747297G>A ENST00000261205.4 + 9 1483 c.826G>A c.(826-828)Gat>Aat p.D276N SYT1_ENST00000552744.1_Missense_Mutation_p.D276N|SYT1_ENST00000457153.2_Missense_Mutation_p.D273N|SYT1_ENST00000393240.3_Missense_Mutation_p.D276N NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 276 Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GAAATTGGGTGATATCTGCTT 0.363000 5 149 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11297986 11297986 + Silent SNP G G T TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr1:11297986G>T ENST00000361445.4 - 13 2198 c.2122C>A c.(2122-2124)Cgg>Agg p.R708R NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 708 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GCCAGCTCCCGGATCTCAAAC 0.572000 3 80 1 1 1 1 0 NXN 64359 broad.mit.edu 37 17 726925 726925 + Missense_Mutation SNP C C T TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr17:726925C>T ENST00000336868.3 - 3 650 c.559G>A c.(559-561)Gag>Aag p.E187K NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.E79K NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 187 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) CTGCTGCTCTCCAGAGACTGC 0.552000 3 55 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 3 6 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 204 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053806 90053806 + RNA DEL G G - TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr16:90053806delG ENST00000437774.1 + 0 731 NR_003226.1 aggtggaggaggtggaggagg 0.642 2 4 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-EL-A3T6-01A-11D-A21Z-08 TCGA-EL-A3T6-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5140ce7c-fceb-49d3-9c00-5dcb081ca0c0 021c6d1e-4b0c-4270-9bb5-9f1ce9d24fd3 g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 7 62 --- --- --- ---