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 HEATR6 63897 broad.mit.edu 37 17 58143675 58143675 + Missense_Mutation SNP T T A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr17:58143675T>A ENST00000184956.6 - 9 1327 c.1311A>T c.(1309-1311)aaA>aaT p.K437N HEATR6_ENST00000585976.1_Missense_Mutation_p.K437N NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 437 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CATAAAGAACTTTTTTTTCTA 0.383000 16 40 0 0 0.024245 0 0 TTC40 54777 broad.mit.edu 37 10 134671183 134671183 + Missense_Mutation SNP T T C TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr10:134671183T>C ENST00000368586.5 - 39 5585 c.5485A>G c.(5485-5487)Atc>Gtc p.I1829V TTC40_ENST00000263170.5_5'UTR NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 494 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 AAGCCCTGGATGCTGTGAAGC 0.552000 3 26 0 0 0.004672 0 0 SHQ1 55164 broad.mit.edu 37 3 72897455 72897455 + Missense_Mutation SNP C C G TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr3:72897455C>G ENST00000325599.8 - 1 176 c.37G>C c.(37-39)Gac>Cac p.D13H NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 13 CS. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) GTCAGGAAGTCCGGATCCTGG 0.657000 3 120 0 0 0.004672 0 0 SBF2 81846 broad.mit.edu 37 11 9812167 9812167 + Missense_Mutation SNP A A C TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr11:9812167A>C ENST00000256190.8 - 34 4771 c.4634T>G c.(4633-4635)aTt>aGt p.I1545S SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1545 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CATTCTGTCAATACATTCCCA 0.294000 3 155 0 0 0.004672 0 0 OR51F1 256892 broad.mit.edu 37 11 4790251 4790251 + Missense_Mutation SNP T T A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr11:4790251T>A ENST00000380383.1 - 1 917 c.918A>T c.(916-918)aaA>aaT p.K306N MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.K299N A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 299 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TGCGGATTTGTTTTGTTTTTA 0.438000 37 50 0 0 0.098360 0 0 DICER1 23405 broad.mit.edu 37 14 95557639 95557639 + Missense_Mutation SNP C C G TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr14:95557639C>G ENST00000526495.1 - 27 5719 c.5428G>C c.(5428-5430)Gat>Cat p.D1810H DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810H|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810H|DICER1_ENST00000556045.1_Missense_Mutation_p.D708H|DICER1_ENST00000527414.1_Missense_Mutation_p.D1810H Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1810 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TCAAAAATATCCCCCATGGCC 0.458000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 92 167 0 0 0.048971 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906194 164906194 + Missense_Mutation SNP G G A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr3:164906194G>A ENST00000475390.1 - 2 2868 c.2425C>T c.(2425-2427)Cgg>Tgg p.R809W SLITRK3_ENST00000241274.3_Missense_Mutation_p.R809W O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 809 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AGCAAGGTCCGGTAGTTACTA 0.557000 HNSCC(40;0.11) 4 117 0 0 0.009096 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879301 39879301 + Missense_Mutation SNP G G C TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr1:39879301G>C ENST00000530275.1 + 1 3151 c.2956G>C c.(2956-2958)Gct>Cct p.A986P MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 986 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTCCCCAGCTGCTGCAGTGCC 0.716000 2 16 0 0 0.014758 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 4 64 0 0 0.009096 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 4 59 0 0 0.009096 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135767911 135767911 + Missense_Mutation SNP C C A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chrX:135767911C>A ENST00000250617.6 - 12 2522 c.1317G>T c.(1315-1317)tgG>tgT p.W439C ARHGEF6_ENST00000370620.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.W312C NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 439 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CTTCTCCTTCCCATGCCTGAA 0.393000 13 121 2.27111e-07 5.29926e-07 0.093190 1 0 CCDC24 149473 broad.mit.edu 37 1 44457888 44457888 + Missense_Mutation SNP C C T TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr1:44457888C>T ENST00000372318.3 + 3 302 c.131C>T c.(130-132)gCg>gTg p.A44V SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR NM_152499.1 NP_689712.1 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 44 endometrium(3)|large_intestine(2)|lung(3)|stomach(1) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TTGCAGGTGGCGATGTTACGG 0.642000 12 120 0 0 0.020292 0 0 DNAH1 25981 broad.mit.edu 37 3 52433173 52433173 + Missense_Mutation SNP C C A TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr3:52433173C>A ENST00000420323.2 + 76 12658 c.12397C>A c.(12397-12399)Cgc>Agc p.R4133S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4198 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R4197S(1)|p.R4133S(1) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAATTTTGCCCGCAAATTTGT 0.537000 5 444 0.00198382 0.0042264 0.029380 1 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 96 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140481431 140481431 + Silent SNP C C G TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr7:140481431C>G ENST00000288602.6 - 11 1437 c.1377G>C c.(1375-1377)gtG>gtC p.V459V NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 459 Protein kinase. 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 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) TTCTTTGTCCCACTGTAATCT 0.403000 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 3 122 0 0 0.014758 0 0 STAC2 342667 broad.mit.edu 37 17 37371255 37371255 + Missense_Mutation SNP C C T TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr17:37371255C>T ENST00000333461.5 - 6 1090 c.721G>A c.(721-723)Gag>Aag p.E241K NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 241 intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 TCCCCATCCTCGGTCAGCTCA 0.632000 87 154 0 0 0.048971 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 46 0 0 0.004672 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 3 28 0 0 0.021553 0 0 CSMD2 114784 broad.mit.edu 37 1 34011735 34011735 + Missense_Mutation SNP A A G TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr1:34011735A>G ENST00000373381.4 - 57 9178 c.9002T>C c.(9001-9003)aTg>aCg p.M3001T NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2974 Sushi 22. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTGAAGCGCATCACAGTGCC 0.617000 34 24 0 0 0.045705 0 0 GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 3 5 --- --- --- --- TECPR1 25851 broad.mit.edu 37 7 97858474 97858474 + Frame_Shift_Del DEL A A - TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr7:97858474delA ENST00000447648.2 - 16 2586 c.2287delT c.(2287-2289)ggfs p.W763fs TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 763 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATCTGCCGCCAAAACCTGGAA 0.642 2 4 --- --- --- --- DYNC2H1 79659 broad.mit.edu 37 11 103029464 103029464 + Frame_Shift_Del DEL G G - TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr11:103029464delG ENST00000375735.2 + 27 4330 c.4186delG c.(4186-4188)gafs p.G1396fs DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.G1396fs NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1396 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TACTCATGCTGGAATAAGAAA 0.269 2 4 --- --- --- --- DICER1 23405 broad.mit.edu 37 14 95590777 95590781 + Frame_Shift_Del DEL TTACT TTACT - TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr14:95590777_95590781delTTACT ENST00000526495.1 - 10 1419_1423 c.1128_1132delAGTAA c.(1126-1134)aatcfs p.KVI376fs DICER1_ENST00000541352.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000343455.3_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.KVI376fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.KVI376fs Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 376 Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AGCAGTTTGATTACTTTAGGAGTTA 0.351 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 43 118 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-EL-A3GO-01A-11D-A202-08 TCGA-EL-A3GO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx bab12837-68d0-46ce-aa87-dd90e0c39b96 3a4370da-15f0-4613-86b2-1cb033d7dd6e g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 5 10 --- --- --- ---