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 FBLIM1 54751 broad.mit.edu 37 1 16093875 16093875 + Silent SNP C C T TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr1:16093875C>T ENST00000375766.3 + 4 895 c.255C>T c.(253-255)tgC>tgT p.C85C FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Silent_p.C85C|FBLIM1_ENST00000441801.2_Silent_p.C85C NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 85 Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) TTGCAGGATGCCCACCCCCTC 0.627000 4 55 0 0 0.000602 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 6 22 0 0 0.003080 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 3 40 0 0 0.004672 0 0 NRG1 3084 broad.mit.edu 37 8 32505799 32505799 + Missense_Mutation SNP C C T TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr8:32505799C>T ENST00000520502.2 + 1 563 c.563C>T c.(562-564)gCg>gTg p.A188V NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000405005.2_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 445 EGF-like. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCGTCCACTGCGCCATCCTTC 0.507000 17 38 0 0 0.006122 0 0 RASSF2 9770 broad.mit.edu 37 20 4776561 4776561 + Missense_Mutation SNP G G A TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr20:4776561G>A ENST00000379400.3 - 5 382 c.187C>T c.(187-189)Cgc>Tgc p.R63C RASSF2_ENST00000379376.2_Missense_Mutation_p.R63C NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 63 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 ATGGGCCGGCGCAGGCCCCAG 0.592000 4 69 0 0 0.009096 0 0 CCDC6 8030 broad.mit.edu 37 10 61666066 61666066 + Silent SNP T T C TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr10:61666066T>C ENST00000263102.6 - 1 348 c.117A>G c.(115-117)ggA>ggG p.G39G NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 39 Poly-Gly. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) cgccgccgcctcccccgccgc 0.726000 T RET NSCLC 7 24 0 0 0.005443 0 0 NLRP11 204801 broad.mit.edu 37 19 56320297 56320297 + Missense_Mutation SNP G G A TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr19:56320297G>A ENST00000443188.1 - 5 2389 c.1679C>T c.(1678-1680)aCg>aTg p.T560M NLRP11_ENST00000589824.2_Missense_Mutation_p.T560M|NLRP11_ENST00000589093.1_Missense_Mutation_p.T560M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T560M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T461M NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 560 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATCCACAATCGTCTTCACAAA 0.428000 21 112 0 0 0.008871 0 0 DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T T G TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr1:182812436T>G ENST00000367549.3 + 3 229 c.119T>G c.(118-120)gTg>gGg p.V40G NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding p.V40G(8) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AAGGTTCAGGTGGAAGGTTAT 0.333000 8 29 0 0 0.013537 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994590 45994590 + Missense_Mutation SNP G G A TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr21:45994590G>A ENST00000400374.3 + 1 985 c.955G>A c.(955-957)Gtg>Atg p.V319M TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 319 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GGGCTGCTGCGTGCCCGTCTG 0.622000 7 214 0 0 0.001984 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 4 97 0 0 0.009096 0 0 CCDC41 51134 broad.mit.edu 37 12 94794732 94794732 + Missense_Mutation SNP T T C TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr12:94794732T>C ENST00000397809.5 - 6 992 c.443A>G c.(442-444)tAt>tGt p.Y148C CCDC41_ENST00000547575.1_Missense_Mutation_p.Y148C|CCDC41_ENST00000339839.5_Missense_Mutation_p.Y148C|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.Y115C NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 140 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 AAGCTTATTATATACAGCTCT 0.303000 22 46 0 0 0.012319 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156692 26156692 + Missense_Mutation SNP G G A TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr6:26156692G>A ENST00000304218.3 + 1 134 c.74G>A c.(73-75)cGc>cAc p.R25H NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 25 nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.R25P(1) NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AAGAAGGCCCGCAAGTCTGCA 0.647000 4 104 0 0 0.009096 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 20 0 0 0.009096 0 0 WDR83 84292 broad.mit.edu 37 19 12780673 12780673 + Silent SNP C C T TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr19:12780673C>T ENST00000418543.3 + 3 418 c.69C>T c.(67-69)tgC>tgT p.C23C WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Silent_p.C23C NM_001099737.2 NP_001093207.1 Q9BRX9 WDR83_HUMAN WD repeat domain 83 23 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 CGCTGGACTGCGGGCAGGGGG 0.617000 5 139 0 0 0.000602 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 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 15 24 0 0 0.002450 0 0 UBXN11 91544 broad.mit.edu 37 1 26608820 26608843 + In_Frame_Del DEL GGGACTGGGGCCGGGACCGGGACC GGGACTGGGGCCGGGACCGGGACC - rs66614970 by1000genomes TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC ENST00000314675.7 - 11 1229_1252 c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC c.(1150-1173)del p.GPGPGPSP384del UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 504 cytoplasm|cytoskeleton p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gtccaggacagggactggggccgggaccgggaccgggactgggg 0.714 8 56 --- --- --- --- RYK 6259 broad.mit.edu 37 3 133913947 133913948 + Frame_Shift_Ins INS - - G TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr3:133913947_133913948insG ENST00000427044.2 - 8 901_902 c.291_292insC c.(289-294)ccacaafs p.Q98fs RYK_ENST00000296084.4_Frame_Shift_Ins_p.Q288fs P34925 RYK_HUMAN receptor-like tyrosine kinase 287 WIF. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 GTTGCATTGTTGGGCGTGTCTG 0.450 12 30 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 4 9 --- --- --- --- RP11-258C19.5 0 broad.mit.edu 37 X 53142508 53142509 + RNA INS - - A rs145002653 by1000genomes TCGA-FE-A230-01A-11D-A14W-08 TCGA-FE-A230-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5b0a900-aaa3-4043-b959-8c31d3afa77f 0f68ee8f-ed69-46b6-9b80-8b0aa5a769f8 g.chrX:53142508_53142509insA ENST00000604849.1 + 0 96 AACACACACACAAAAAAAAACC 0.356 4 4 --- --- --- ---