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 INHBE 83729 broad.mit.edu 37 12 57850257 57850257 + Missense_Mutation SNP G G A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr12:57850257G>A ENST00000266646.2 + 2 895 c.679G>A c.(679-681)Gag>Aag p.E227K INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 227 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CCGAGCCAATGAGCCTGGAGC 0.602000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 124 0 0 0.001168 0 0 FBF1 85302 broad.mit.edu 37 17 73908312 73908312 + Silent SNP G G A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr17:73908312G>A ENST00000586717.1 - 28 3552 c.3279C>T c.(3277-3279)ctC>ctT p.L1093L RP11-552F3.12_ENST00000587556.1_Silent_p.L35L|FBF1_ENST00000319129.5_Silent_p.L1093L|FBF1_ENST00000389570.4_Silent_p.L1094L A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 1093 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GCCTGGCATGGAGGTGCAAGG 0.632000 7 18 0 0 0.001984 0 0 TRAPPC6A 79090 broad.mit.edu 37 19 45668203 45668203 + Missense_Mutation SNP T T C TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr19:45668203T>C ENST00000006275.4 - 3 238 c.220A>G c.(220-222)Agg>Ggg p.R74G TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.Q51R|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.R60G|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.Q37R NM_024108.1 NP_077013.1 O75865 TPC6A_HUMAN trafficking protein particle complex 6A 60 vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 8 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233) AGCTCCTCCCTGAAGGCCAGC 0.637000 3 80 0 0 0.000248 0 0 MATR3 9782 broad.mit.edu 37 5 138643991 138643991 + Missense_Mutation SNP G G T TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr5:138643991G>T ENST00000394800.2 + 6 1436 c.887G>T c.(886-888)tGt>tTt p.C296F MATR3_ENST00000510056.1_Missense_Mutation_p.C296F|MATR3_ENST00000509990.1_Missense_Mutation_p.C296F|MATR3_ENST00000502929.1_Missense_Mutation_p.C296F|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.C296F|MATR3_ENST00000394805.3_Missense_Mutation_p.C296F P43243 MATR3_HUMAN matrin 3 296 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) TGCTCTATATGTGATTTGCCA 0.378000 4 106 0.000602214 0.00106756 0.000602 1 0 RDH10 157506 broad.mit.edu 37 8 74231385 74231385 + Missense_Mutation SNP A A G TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr8:74231385A>G ENST00000240285.5 + 3 1258 c.580A>G c.(580-582)Aca>Gca p.T194A RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.T29A NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 194 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TCATATTGTGACAGTTGCAAG 0.368000 3 109 0 0 0.004672 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 6 50 0 0 0.001168 0 0 KIAA1549 57670 broad.mit.edu 37 7 138579148 138579148 + Silent SNP G G A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr7:138579148G>A ENST00000440172.1 - 10 4020 c.3972C>T c.(3970-3972)tgC>tgT p.C1324C KIAA1549_ENST00000422774.1_Silent_p.C1324C|KIAA1549_ENST00000242365.4_Silent_p.C1274C NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1324 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TGTCTGTGCGGCATAGTTTCC 0.527000 O BRAF pilocytic astrocytoma 4 117 0 0 0.000602 0 0 PLEKHM1P 0 broad.mit.edu 37 17 62800992 62800992 + RNA SNP G G A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr17:62800992G>A ENST00000582986.1 - 0 840 NR_024386.1 ATGCCCCTGGGATGGGGCTGC 0.587000 7 10 0 0 0.004482 0 0 NDUFA3 4696 broad.mit.edu 37 19 54611759 54611759 + Missense_Mutation SNP A A G TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr19:54611759A>G ENST00000391764.3 + 4 186 c.176A>G c.(175-177)aAg>aGg p.K59R TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391759.1_Intron|TFPT_ENST00000391757.1_Intron O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 60 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) GCTGGGGAAAAGGGCCACAGG 0.602000 3 42 0 0 0.004672 0 0 OR7C2 26658 broad.mit.edu 37 19 15052786 15052786 + Silent SNP C C A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr19:15052786C>A ENST00000248072.3 + 1 486 c.486C>A c.(484-486)acC>acA p.T162T NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) AGACCTTGACCATTTTGAGGC 0.507000 85 130 2.22755e-30 4.34373e-30 0.003610 1 0 ZNF80 7634 broad.mit.edu 37 3 113955140 113955140 + Missense_Mutation SNP G G T TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr3:113955140G>T ENST00000482457.2 - 1 1285 c.782C>A c.(781-783)gCc>gAc p.A261D NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 261 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) ACTCTGTTGGGCAAAAGCAGA 0.403000 5 92 0.000602214 0.00106756 0.000602 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f 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 19 20 0 0 0.002299 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 6 46 0 0 0.001984 0 0 SNX17 9784 broad.mit.edu 37 2 27599354 27599354 + Silent SNP T T C TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr2:27599354T>C ENST00000233575.2 + 14 1488 c.1266T>C c.(1264-1266)ccT>ccC p.P422P SNX17_ENST00000543024.1_Silent_p.P208P|SNX17_ENST00000542478.1_Silent_p.P208P|SNX17_ENST00000537606.1_Silent_p.P397P NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 422 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGTCACCTGATGCCACCC 0.552000 3 100 0 0 0.004672 0 0 ICA1 3382 broad.mit.edu 37 7 8196560 8196578 + Frame_Shift_Del DEL AAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA - rs147272214 TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr7:8196560_8196578delAAAAAAAAAAAAAAAAAAA ENST00000407906.1 - 8 1223_1241 c.972_990delTTTTTTTTTTTTTTTTTTT c.(970-990)ttfs p.FFFFFFF324fs ICA1_ENST00000401396.1_Intron|ICA1_ENST00000396675.3_Intron|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000265577.7_Intron|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000402384.3_Intron Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 0 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CTGATGCAGTaaaaaaaaaaaaaaaaaaaaaaaaagaaa 0.370 3 6 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 4 8 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 4 2 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2053624 2053629 + In_Frame_Del DEL ATGCGT ATGCGT - TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr16:2053624_2053629delATGCGT ENST00000563630.1 - 2 400_405 c.158_163delACGCAT c.(157-165)ttg>t p.YAL53del ZNF598_ENST00000562103.1_In_Frame_Del_p.YAL53del|ZNF598_ENST00000431526.1_In_Frame_Del_p.YAL108del Q86UK7 ZN598_HUMAN zinc finger protein 598 108 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CACCTGTACAATGCGTACACCTTTCC 0.568 10 34 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 3 4 --- --- --- --- NPTXR 23467 broad.mit.edu 37 22 39239340 39239341 + Frame_Shift_Ins INS - - G TCGA-DJ-A2PQ-01A-11D-A18F-08 TCGA-DJ-A2PQ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9fa0bb18-d8f2-481e-bba2-0afa565b9cf0 b817f147-c91b-4189-925b-c23951bff31f g.chr22:39239340_39239341insG ENST00000333039.2 - 1 646_647 c.523_524insC c.(523-525)ccgfs p.P175fs NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 175 integral to membrane metal ion binding p.R175fs*106(1) central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) GGTGTcgcggcggggcccggcg 0.767 2 4 --- --- --- ---