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 NPY1R 0 broad.mit.edu 37 4 164247095 164247095 + Silent SNP C C T TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr4:164247095C>T ENST00000296533.2 - 2 1143 c.612G>A c.(610-612)tcG>tcA p.S204S NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 204 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TATGAGAGTCCGATGGAAATT 0.383000 18 36 0 0 0.006122 0 0 TSPYL2 64061 broad.mit.edu 37 X 53114505 53114505 + Splice_Site SNP T T A TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chrX:53114505T>A ENST00000375442.4 + 5 1370 c.e5+2 NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 GAAGAAACGGTAATGGGAGTT 0.443000 22 43 0 0 0.014323 0 0 ORC2 4999 broad.mit.edu 37 2 201822123 201822123 + Splice_Site SNP C C G TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr2:201822123C>G ENST00000234296.2 - 4 488 c.e4+1 ORC2_ENST00000467605.1_Splice_Site NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 CCCTCAAATACCTTGAACATC 0.358000 36 93 0 0 0.008740 0 0 PCDHB6 0 broad.mit.edu 37 5 140531380 140531380 + Silent SNP C C T TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr5:140531380C>T ENST00000231136.1 + 1 1542 c.1542C>T c.(1540-1542)ctC>ctT p.L514L PCDHB6_ENST00000543635.1_Silent_p.L378L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 514 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTTTGCCCTCAGGTCGCTGG 0.687000 12 239 0 0 0.013537 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481888 142481888 + RNA SNP T T C rs138077672 by1000genomes TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr7:142481888T>C ENST00000603901.1 + 0 567 NR_001296.3 TGGGCTTCCTTGAGGGAGGCA 0.522000 6 57 0 0 0.004482 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 38 0 0 0.004672 0 0 HOXC11 3227 broad.mit.edu 37 12 54367562 54367562 + Silent SNP G G T TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr12:54367562G>T ENST00000546378.1 + 1 653 c.537G>T c.(535-537)ggG>ggT p.G179G HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.G179G O43248 HXC11_HUMAN homeobox C11 179 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 AGGCCAAGGGGGAGCCCGAGG 0.716000 T NUP98 AML 10 13 5.16669e-11 9.30004e-11 0.010729 1 0 RPAP1 26015 broad.mit.edu 37 15 41819130 41819130 + Missense_Mutation SNP A A C TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr15:41819130A>C ENST00000304330.4 - 14 1999 c.1883T>G c.(1882-1884)cTg>cGg p.L628R RPAP1_ENST00000561603.1_Missense_Mutation_p.L628R NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 628 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) AGCTGAGGCCAGGACACGAAG 0.572000 7 258 0 0 0.001984 0 0 SF3B3 23450 broad.mit.edu 37 16 70599364 70599364 + Silent SNP A A T TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr16:70599364A>T ENST00000302516.5 + 20 2974 c.2763A>T c.(2761-2763)gcA>gcT p.A921A NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 921 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GATCTGTGGCAGGGGGCTTCG 0.488000 6 139 0 0 0.021553 0 0 ABCB11 8647 broad.mit.edu 37 2 169850358 169850358 + Nonsense_Mutation SNP G G A TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr2:169850358G>A ENST00000263817.6 - 8 770 c.646C>T c.(646-648)Caa>Taa p.Q216* NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 216 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AGGGCCATTTGGTCAGCTATG 0.383000 8 16 0 0 0.003080 0 0 SEMA3B 7869 broad.mit.edu 37 3 50311400 50311400 + RNA SNP C C G TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr3:50311400C>G ENST00000418948.1 + 0 1283 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GTGCGCCGGGCCTTCTTGGGA 0.667000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 43 0 0 0.010504 0 0 NBEAP1 0 broad.mit.edu 37 15 20876452 20876452 + RNA SNP G G A rs6422239 by1000genomes TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr15:20876452G>A ENST00000556948.1 - 0 148 CTTTGCAGGTGTATGTATCCA 0.333000 4 55 0 0 0.014758 0 0 DICER1 23405 broad.mit.edu 37 14 95557629 95557629 + Missense_Mutation SNP T T C TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr14:95557629T>C ENST00000526495.1 - 27 5729 c.5438A>G c.(5437-5439)gAg>gGg p.E1813G DICER1_ENST00000527414.1_Missense_Mutation_p.E1813G|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000343455.3_Missense_Mutation_p.E1813G|DICER1_ENST00000556045.1_Missense_Mutation_p.E711G|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.E1813G Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1813 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 p.E1813G(1)|p.E1813A(1) 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) AGCAAGCGACTCAAAAATATC 0.458000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 117 223 0 0 0.014410 0 0 NCAN 1463 broad.mit.edu 37 19 19359691 19359691 + Splice_Site SNP C C T rs148844959 byFrequency TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr19:19359691C>T ENST00000252575.5 + 14 3863 c.3820_splice c.e14+1 p.P1274_splice NCAN_ENST00000538881.1_Splice_Site_p.P725_splice NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1274 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTGCACCAAACGTAAGTAGCT 0.463000 23 27 0 0 0.016522 0 0 PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 2 4 --- --- --- --- STAG3L4 0 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 4 5 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 8 53 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 9 17 --- --- --- --- NAB2 4665 broad.mit.edu 37 12 57488406 57488406 + Frame_Shift_Del DEL G G - TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr12:57488406delG ENST00000300131.3 + 7 1858 c.1480delG c.(1480-1482)ggfs p.G494fs NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Frame_Shift_Del_p.G430fs NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 494 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GTTCGAGGAAGGGCTGCTGGA 0.627 2 4 --- --- --- --- AMDHD1 144193 broad.mit.edu 37 12 96359525 96359525 + Frame_Shift_Del DEL G G - TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr12:96359525delG ENST00000266736.2 + 7 1106 c.1000delG c.(1000-1002)atfs p.D334fs NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 334 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 TCTGGGAAGTGATTTCAACCC 0.353 34 77 --- --- --- --- DICER1 23405 broad.mit.edu 37 14 95598913 95598916 + Frame_Shift_Del DEL GGAC GGAC - rs111483821 TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr14:95598913_95598916delGGAC ENST00000526495.1 - 5 534_537 c.243_246delGTCC c.(241-246)ctfs p.LS81fs DICER1_ENST00000527414.1_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000343455.3_Frame_Shift_Del_p.LS81fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.LS81fs Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 81 Helicase ATP-binding. VLLTKELSYQIRGDFS -> STTLLKSCLYLDLGETSA (in Ref. 1; BAA78691). 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) TGATCTGATAGGACAGCTCTTTAG 0.407 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 50 158 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7573998 7573999 + Frame_Shift_Del DEL CT CT - TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr17:7573998_7573999delCT ENST00000269305.4 - 10 1217_1218 c.1028_1029delAG c.(1027-1029)gfs p.E343fs TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.E343fs NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 343 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. E -> G (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L344fs*23(2)|p.I332fs*5(1)|p.R342_N345delRELN(1)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTCATTCAGCTCTCGGAACAT 0.569 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 15 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 TCGA-EL-A3D5-01A-22D-A202-08 TCGA-EL-A3D5-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4936b787-77b4-405e-b287-60bc8d820a44 5f0ca1ea-c4fb-45a0-b1c7-73ae97a9b4bf g.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 5 4 --- --- --- ---