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 MAGEA6 4105 broad.mit.edu 37 X 151869868 151869868 + Silent SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chrX:151869868C>T ENST00000329342.5 + 3 783 c.558C>T c.(556-558)taC>taT p.Y186Y NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 186 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GCCTCTCCTACGATGGCCTGC 0.557000 4 61 0 0 1 0 0 RASA4B 100271927 broad.mit.edu 37 7 102136604 102136604 + Missense_Mutation SNP C C T rs746316 TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr7:102136604C>T ENST00000481893.1 - 16 1962 c.838G>A c.(838-840)Gtg>Atg p.V280M RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M RAS p21 protein activator 4B p.V352M(1) skin(1) 1 AAAGACTCCACGGACTTTGAG 0.542000 4 52 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43567862 43567862 + Missense_Mutation SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr22:43567862G>A ENST00000216129.6 - 11 1601 c.1538C>T c.(1537-1539)aCg>aTg p.T513M NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 513 TTL. protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) GTTCATGACCGTGAAGTGCTT 0.587000 3 47 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202700150 202700150 + Silent SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr1:202700150G>A ENST00000367265.3 - 25 5227 c.4063C>T c.(4063-4065)Ctg>Ttg p.L1355L KDM5B_ENST00000367264.2_Silent_p.L1391L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1355 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ACCTGGAGCAGCTGGGCTTCC 0.448000 3 39 0 0 1 0 0 BPIFA1 51297 broad.mit.edu 37 20 31825987 31825987 + Missense_Mutation SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr20:31825987C>T ENST00000354297.4 + 3 358 c.287C>T c.(286-288)aCg>aTg p.T96M BPIFA1_ENST00000375422.2_Missense_Mutation_p.T96M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.T96M NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 96 innate immune response extracellular region lipid binding p.T96M(1) GGAAAAGTGACGTCAGTGATT 0.537000 21 46 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 5 42 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217124370 217124370 + Missense_Mutation SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr2:217124370G>A ENST00000273067.4 - 4 2664 c.898C>T c.(898-900)Cgc>Tgc p.R300C AC012513.6_ENST00000417481.1_RNA NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 300 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) TTAAAGATGCGGTACACCGAG 0.537000 11 18 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176675578 176675578 + Missense_Mutation SNP A A G TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr1:176675578A>G ENST00000367662.3 + 10 4613 c.3449A>G c.(3448-3450)aAc>aGc p.N1150S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1150 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAAGGTTTCAACTGTGTAGGT 0.423000 8 10 0 0 1 0 0 ZNF79 7633 broad.mit.edu 37 9 130197489 130197489 + Silent SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr9:130197489C>T ENST00000342483.5 + 3 632 c.226C>T c.(226-228)Cta>Tta p.L76L ZNF79_ENST00000543471.1_Silent_p.L52L NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 GAGCCTTGTCCTACTAGGTAA 0.478000 4 32 0 0 1 0 0 KLHL42 57542 broad.mit.edu 37 12 27933767 27933767 + Silent SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr12:27933767C>T ENST00000381271.2 + 1 815 c.504C>T c.(502-504)ctC>ctT p.L168L RP11-860B13.1_ENST00000545904.1_RNA NM_020782.1 NP_065833.1 kelch-like family member 42 AGTTCCACCTCCTGGGGTCTC 0.672000 21 25 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567013 4567013 + Missense_Mutation SNP A A G TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr11:4567013A>G ENST00000360213.1 + 1 593 c.593A>G c.(592-594)aAt>aGt p.N198S NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCAGGGTCAATAATGTCTAT 0.512000 6 88 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43816717 43816717 + Missense_Mutation SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr9:43816717G>A ENST00000377564.3 + 6 1216 c.823G>A c.(823-825)Gtc>Atc p.V275I CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.V275I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 275 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGGCATTCCGTCCTCATCGA 0.493000 3 39 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48650206 48650206 + Silent SNP C C A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr17:48650206C>A ENST00000352832.5 + 6 1410 c.1038C>A c.(1036-1038)gcC>gcA p.A346A CACNA1G_ENST00000514079.1_Silent_p.A346A|CACNA1G_ENST00000505165.1_Silent_p.A346A|CACNA1G_ENST00000510115.1_Silent_p.A346A|CACNA1G_ENST00000510366.1_Silent_p.A346A|CACNA1G_ENST00000515165.1_Silent_p.A346A|CACNA1G_ENST00000507896.1_Silent_p.A346A|CACNA1G_ENST00000514717.1_Silent_p.A346A|CACNA1G_ENST00000507510.2_Silent_p.A346A|CACNA1G_ENST00000359106.5_Silent_p.A346A|CACNA1G_ENST00000515411.1_Silent_p.A346A|CACNA1G_ENST00000513689.2_Silent_p.A346A|CACNA1G_ENST00000512389.1_Silent_p.A346A|CACNA1G_ENST00000507336.1_Silent_p.A346A|CACNA1G_ENST00000502264.1_Silent_p.A346A|CACNA1G_ENST00000360761.4_Silent_p.A346A|CACNA1G_ENST00000442258.2_Silent_p.A346A|CACNA1G_ENST00000429973.2_Silent_p.A346A|CACNA1G_ENST00000514181.1_Silent_p.A346A|CACNA1G_ENST00000416767.4_Silent_p.A346A|CACNA1G_ENST00000513964.1_Silent_p.A346A|CACNA1G_ENST00000358244.5_Silent_p.A346A|CACNA1G_ENST00000503485.1_Silent_p.A346A|CACNA1G_ENST00000354983.4_Silent_p.A346A|CACNA1G_ENST00000507609.1_Silent_p.A346A|CACNA1G_ENST00000515765.1_Silent_p.A346A NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 346 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTGGATCGCCATCTTCCAGG 0.617000 12 33 5.50884e-06 5.50884e-06 1 1 0 ARID2 196528 broad.mit.edu 37 12 46245245 46245245 + Silent SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr12:46245245G>A ENST00000334344.6 + 15 3511 c.3339G>A c.(3337-3339)ggG>ggA p.G1113G ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G723G|ARID2_ENST00000422737.1_Silent_p.G964G NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1113 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GAGTGCAGGGGCAAACTCCAG 0.542000 """N, S, F""" hepatocellular carcinoma 3 51 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36357265 36357265 + Missense_Mutation SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr17:36357265C>T ENST00000312412.4 - 9 987 c.988G>A c.(988-990)Gca>Aca p.A330T TBC1D3_ENST00000537432.1_5'UTR|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.A175T kidney(1)|lung(3) 4 ATAAGCAATGCAGTCTCCCTA 0.378000 5 14 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 62 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29657338 29657338 + Nonsense_Mutation SNP T T A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr17:29657338T>A ENST00000358273.4 + 39 6017 c.5634T>A c.(5632-5634)tgT>tgA p.C1878* NF1_ENST00000356175.3_Nonsense_Mutation_p.C1857*|NF1_ENST00000581113.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1878 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATCTTCTGTGTGCCTTAACTT 0.338000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 20 33 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 3 9 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 5 38 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39026679 39026679 + Missense_Mutation SNP G G C TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr19:39026679G>C ENST00000355481.4 + 81 11675 c.11544G>C c.(11542-11544)gaG>gaC p.E3848D AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.E3853D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3853D NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3853 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACAAGGCCGAGGGGCTGGGCA 0.577000 11 10 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10132233 10132233 + Silent SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr19:10132233G>A ENST00000591589.1 + 6 993 c.804G>A c.(802-804)tcG>tcA p.S268S RDH8_ENST00000171214.1_Silent_p.S248S Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 248 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) TCATCAGCTCGACTCGACCAC 0.632000 3 32 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 59 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20933055 20933055 + Silent SNP G G A rs149998482 TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr9:20933055G>A ENST00000380249.1 + 30 3724 c.3360G>A c.(3358-3360)tcG>tcA p.S1120S FOCAD_ENST00000605086.1_Silent_p.S556S|FOCAD_ENST00000338382.6_Silent_p.S1120S NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1120 integral to membrane binding TGATGAAGTCGTTGGATGCCC 0.378000 15 74 0 0 1 0 0 ZNF564 163050 broad.mit.edu 37 19 12638192 12638192 + Missense_Mutation SNP T T C TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr19:12638192T>C ENST00000339282.7 - 4 926 c.730A>G c.(730-732)Atg>Gtg p.M244V CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TGCCTAATCATGTGTCTTTGA 0.388000 19 92 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051886 79051886 + Silent SNP G G A TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr15:79051886G>A ENST00000388820.4 - 24 5148 c.4938C>T c.(4936-4938)tgC>tgT p.C1646C NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1646 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.C1646C(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCAGCGTCTCGCAGAACCCGA 0.701000 3 19 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15755112 15755113 + Frame_Shift_Ins INS - - T TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr3:15755112_15755113insT ENST00000399451.2 - 10 1388_1389 c.1021_1022insA c.(1021-1023)cccfs p.P341fs ANKRD28_ENST00000383777.1_Frame_Shift_Ins_p.P374fs|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 341 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GTGCAAAGGGGTATTTCCATTC 0.441 16 111 --- --- --- --- ABCF1 23 broad.mit.edu 37 6 30545854 30545854 + Splice_Site DEL A A - TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr6:30545854delA ENST00000326195.8 + 4 330 c.216_splice c.e4-1 p.Q73_splice ABCF1_ENST00000396515.4_Splice_Site_p.Q73_splice|ABCF1_ENST00000376545.3_Splice_Site_p.Q73_splice NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 73 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 TCTCAGCAGCAAAAAAAAAAG 0.493 9 73 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 2 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29576062 29576077 + Frame_Shift_Del DEL GTTCTTCCATGCCATC GTTCTTCCATGCCATC - TCGA-WB-A81V-01A-11D-A35I-08 TCGA-WB-A81V-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6300e3be-89f7-4168-aea3-14f052f7d8b2 54aac43d-0895-4da5-86f5-6720e0ac614c g.chr17:29576062_29576077delGTTCTTCCATGCCATC ENST00000358273.4 + 30 4418_4433 c.4035_4050delGTTCTTCCATGCCATC c.(4033-4050)aafs p.KFFHAI1345fs NF1_ENST00000356175.3_Frame_Shift_Del_p.KFFHAI1345fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1345 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGACTGAAAAGTTCTTCCATGCCATCATCAGTTCCT 0.384 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 15 83 --- --- --- ---