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 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 4 86 0 0 0.021553 0 0 CHRM5 0 broad.mit.edu 37 15 34355399 34355399 + Missense_Mutation SNP C C A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr15:34355399C>A ENST00000383263.5 + 3 1151 c.481C>A c.(481-483)Ctc>Atc p.L161I CHRM5_ENST00000557872.1_Missense_Mutation_p.L161I NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 161 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CTCCTTCATCCTCTGGGCCCC 0.547000 4 117 0.00024832 0.00033368 0.009096 1 0 ARIH2OS 646450 broad.mit.edu 37 3 48955844 48955844 + Missense_Mutation SNP C C A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr3:48955844C>A ENST00000408959.2 - 1 974 c.739G>T c.(739-741)Gtt>Ttt p.V247F NM_001123040.1 NP_001116512.1 ariadne homolog 2 opposite strand GCGCGGCGAACGAGGCCTCGG 0.592000 5 119 1.024e-07 1.42039e-07 0.014758 1 0 STK31 56164 broad.mit.edu 37 7 23792452 23792452 + Splice_Site SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr7:23792452G>A ENST00000354639.3 + 9 1528 c.e9+1 STK31_ENST00000355870.3_Splice_Site|STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000405627.3_Splice_Site NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAGAAATGAGGTAGGTAAAAG 0.303000 3 46 0 0 0.115264 0 0 MAST1 22983 broad.mit.edu 37 19 12962967 12962967 + Silent SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr19:12962967G>A ENST00000251472.4 + 9 954 c.915G>A c.(913-915)gcG>gcA p.A305A MAST1_ENST00000591495.1_Silent_p.A301A NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 305 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TGCTGGAGGCGGCCGAAGGAC 0.652000 7 170 0 0 0.038147 0 0 MED1 5469 broad.mit.edu 37 17 37563979 37563979 + Nonsense_Mutation SNP T T A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr17:37563979T>A ENST00000300651.6 - 17 4718 c.4495A>T c.(4495-4497)Aag>Tag p.K1499* MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1499 Lys-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTTTTGTGCTTCTTATGTTTC 0.438000 HNSCC(31;0.082) 4 35 0 0 0.021553 0 0 LINC00969 0 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 4 23 0 0 0.009096 0 0 SMTNL2 342527 broad.mit.edu 37 17 4510712 4510712 + Missense_Mutation SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr17:4510712G>A ENST00000389313.4 + 8 1383 c.1316G>A c.(1315-1317)cGc>cAc p.R439H SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 439 CH. breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) GTGATGGGCCGCAAGCCGGAC 0.582000 5 293 0 0 0.021553 0 0 KIF25 0 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr6:168430272T>A ENST00000443060.2 + 3 398 c.7T>A c.(7-9)Tgg>Agg p.W3R KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R Q9UIL4 KIF25_HUMAN kinesin family member 25 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3R(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.612000 4 160 0 0 0.009096 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 5 86 0 0 0.014758 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871700 8871700 + Missense_Mutation SNP T T C TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr2:8871700T>C ENST00000256707.3 - 30 4647 c.4466A>G c.(4465-4467)aAg>aGg p.K1489R KIDINS220_ENST00000473731.1_Missense_Mutation_p.K1470R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.K1470R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.K1390R NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1489 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGGGAGAAGCTTACTGCCTGA 0.463000 3 55 0 0 0.009096 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007535 93007535 + Silent SNP T T C TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr15:93007535T>C ENST00000268164.3 + 6 1285 c.1048T>C c.(1048-1050)Ttg>Ctg p.L350L ST8SIA2_ENST00000539113.1_Silent_p.L329L NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 350 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TACCATGCCCTTGGAGTTTAA 0.577000 3 172 0 0 0.009096 0 0 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr20:43836817A>G ENST00000372781.3 + 2 936 c.879A>G c.(877-879)acA>acG p.T293T SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I p.T293T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383000 3 45 0 0 0.115264 0 0 COPB1 1315 broad.mit.edu 37 11 14520418 14520418 + Silent SNP T T C TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr11:14520418T>C ENST00000249923.3 - 2 357 c.57A>G c.(55-57)gaA>gaG p.E19E PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Silent_p.E19E|PSMA1_ENST00000555531.1_3'UTR NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 19 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 CAGATGGTGGTTCTGAATCCA 0.313000 28 52 0 0 0.111260 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 9 0 0 0.115264 0 0 FAM13A 10144 broad.mit.edu 37 4 89912157 89912157 + Missense_Mutation SNP T T C TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr4:89912157T>C ENST00000264344.5 - 4 779 c.572A>G c.(571-573)aAt>aGt p.N191S FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Missense_Mutation_p.N191S|FAM13A_ENST00000515600.1_Missense_Mutation_p.N191S NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 191 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 AGTGGCGAGATTGTGAACATT 0.423000 5 141 0 0 0.029380 0 0 CABIN1 23523 broad.mit.edu 37 22 24445595 24445595 + Missense_Mutation SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr22:24445595G>A ENST00000398319.2 + 7 954 c.569G>A c.(568-570)cGg>cAg p.R190Q CABIN1_ENST00000405822.2_Missense_Mutation_p.R190Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.R190Q NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 190 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity p.R190L(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AAGGATTGCCGGTACAGCAAA 0.502000 4 168 0 0 0.009096 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 4 119 0 0 0.014758 0 0 SNRNP70 6625 broad.mit.edu 37 19 49589800 49589800 + Silent SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr19:49589800G>A ENST00000221448.5 + 2 325 c.129G>A c.(127-129)ccG>ccA p.P43P SNRNP70_ENST00000598441.1_Silent_p.P43P NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 43 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 GCATTGCGCCGTACATTCGAG 0.532000 6 429 0 0 0.029380 0 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 4 24 0 0 0.009096 0 0 L1CAM 3897 broad.mit.edu 37 X 153129444 153129444 + Silent SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chrX:153129444G>A ENST00000370060.1 - 26 3540 c.3351C>T c.(3349-3351)ttC>ttT p.F1117F L1CAM_ENST00000543994.1_Silent_p.F1119F|L1CAM_ENST00000538883.1_Silent_p.F1119F|L1CAM_ENST00000361699.4_Silent_p.F1117F|L1CAM_ENST00000361981.3_Silent_p.F1112F|L1CAM_ENST00000370055.1_Silent_p.F1112F|L1CAM_ENST00000370057.3_Silent_p.F1117F NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1117 GF -> WLC (in Ref. 11). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTCAGTGGCGAAGCCAGCAG 0.632000 3 51 0 0 0.014758 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869749 151869749 + Missense_Mutation SNP T T A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chrX:151869749T>A ENST00000329342.5 + 3 664 c.439T>A c.(439-441)Ttt>Att p.F147I NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 147 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) GCAGTACTTCTTTCCTGTGAT 0.527000 4 197 0 0 0.014758 0 0 PDHA2 5161 broad.mit.edu 37 4 96761700 96761700 + Silent SNP C C T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr4:96761700C>T ENST00000295266.4 + 1 462 c.399C>T c.(397-399)ctC>ctT p.L133L NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 133 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GATCCATTCTCGCAGAGCTGA 0.517000 10 91 0 0 0.119110 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 3 100 0 0 0.115264 0 0 ABR 29 broad.mit.edu 37 17 995059 995059 + Missense_Mutation SNP G G T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr17:995059G>T ENST00000544583.2 - 4 838 c.239C>A c.(238-240)aCc>aAc p.T80N ABR_ENST00000574437.1_Missense_Mutation_p.T80N|ABR_ENST00000302538.5_Missense_Mutation_p.T126N|ABR_ENST00000291107.2_Missense_Mutation_p.T89N NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 126 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GGGCTGGGAGGTGGTGGCGGT 0.572000 19 203 0.000295444 0.000384972 0.069288 1 0 CLPX 10845 broad.mit.edu 37 15 65459053 65459053 + Silent SNP C C T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr15:65459053C>T ENST00000300107.3 - 4 617 c.429G>A c.(427-429)aaG>aaA p.K143K NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 143 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 TTATGCTTTTCTTTGAGTCTG 0.393000 3 110 0 0 0.115264 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634706 70634706 + Missense_Mutation SNP G G A TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr14:70634706G>A ENST00000381269.2 - 2 1187 c.434C>T c.(433-435)gCt>gTt p.A145V SLC8A3_ENST00000528359.1_Missense_Mutation_p.A145V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A145V|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A145V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A145V NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 145 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TATCTCAGGAGCAGAGGAACC 0.488000 4 74 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 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 35 55 0 0 0.111260 0 0 COL15A1 1306 broad.mit.edu 37 9 101829274 101829274 + Silent SNP A A G TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr9:101829274A>G ENST00000375001.3 + 40 4185 c.3762A>G c.(3760-3762)ttA>ttG p.L1254L NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1254 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GAGCATTCTTATCTTCCCATT 0.463000 4 138 0 0 0.021553 0 0 MYH8 4626 broad.mit.edu 37 17 10318635 10318635 + Missense_Mutation SNP C C T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr17:10318635C>T ENST00000403437.2 - 8 809 c.715G>A c.(715-717)Gtg>Atg p.V239M CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 239 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TCATTCCTCACAGTTTTGGCA 0.478000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 60 85 0 0 0.139131 0 0 SPATA18 132671 broad.mit.edu 37 4 52945025 52945025 + Missense_Mutation SNP A A T TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr4:52945025A>T ENST00000295213.4 + 8 1519 c.1145A>T c.(1144-1146)cAt>cTt p.H382L SPATA18_ENST00000419395.2_Missense_Mutation_p.H350L NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 382 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GTCATTTGTCATCTTGATCTA 0.383000 7 204 0 0 0.047766 0 0 GRM1 2911 broad.mit.edu 37 6 146755219 146755221 + In_Frame_Del DEL GAG GAG - TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr6:146755219_146755221delGAG ENST00000361719.2 + 9 3342_3344 c.2872_2874delGAG c.(2872-2874)del p.E961del GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.E961del|GRM1_ENST00000507907.1_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 961 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTACAACGTAGAGGAGGAGGAGG 0.586 7 253 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11179940 11179941 + RNA DEL GT GT - rs71673504 TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr11:11179940_11179941delGT ENST00000525758.1 + 0 108 GGGGCGGGCGGTGGGGGGGGGG 0.520 7 0 --- --- --- --- PTGDR2 11251 broad.mit.edu 37 11 60620167 60620169 + In_Frame_Del DEL GCG GCG - TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr11:60620167_60620169delGCG ENST00000332539.4 - 2 1138_1140 c.1027_1029delCGC c.(1027-1029)del p.R343del NM_004778.2 NP_004769.2 Q9Y5Y4 GPR44_HUMAN prostaglandin D2 receptor 2 343 immune response integral to plasma membrane N-formyl peptide receptor activity TGGAGGAGGTGCGGCGGCGGCGG 0.749 2 4 --- --- --- --- LINC00617 0 broad.mit.edu 37 14 96355806 96355808 + RNA DEL CCT CCT - rs2369329 TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr14:96355806_96355808delCCT ENST00000503525.2 + 0 406 NR_038861.1 tctccctccccctcctcctcctc 0.606 2 4 --- --- --- --- ADNP 23394 broad.mit.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-CE-A3ME-01A-11D-A20C-08 TCGA-CE-A3ME-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca09e0ec-4cc2-4297-8ed5-31a6670f7e3b 0af887aa-c6b3-48e1-a9c2-9c746dededa6 g.chr20:49508204delT ENST00000396029.3 - 5 3614 c.3047delA c.(3046-3048)agfs p.K1016fs ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 1016 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 CATGGTAGCCTTTTTTTTGGC 0.458 7 93 --- --- --- ---