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 PARD3 56288 broad.mit.edu 37 10 34985316 34985316 + Missense_Mutation SNP A A C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr10:34985316A>C uc010qej.2 - 1 482 c.152T>G c.(151-153)tTg>tGg p.L51W PARD3_uc010qep.2_Missense_Mutation_p.L51W|PARD3_uc010qeq.2_Missense_Mutation_p.L51W|PARD3_uc010qek.2_Missense_Mutation_p.L51W|PARD3_uc010qel.2_Missense_Mutation_p.L51W|PARD3_uc010qem.2_Missense_Mutation_p.L51W|PARD3_uc010qen.2_Missense_Mutation_p.L51W|PARD3_uc010qeo.2_Missense_Mutation_p.L51W|PARD3_uc001ixr.2_Missense_Mutation_p.L51W|PARD3_uc001ixq.2_Missense_Mutation_p.L51W|PARD3_uc001ixp.2_Missense_Mutation_p.L51W|PARD3_uc001ixu.2_Missense_Mutation_p.L51W NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 51 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding p.R50G(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCCATGTTCCAAGCGATGCAC 0.413000 38 239 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576561 158576561 + Silent SNP C C T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr1:158576561C>T uc010pio.2 + 0 333 c.333C>T c.(331-333)aaC>aaT p.N111N NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CCTGTACTAACTGCTTCCTTC 0.567000 6 222 0 0 1 0 0 SPI1 6688 broad.mit.edu 37 11 47380480 47380480 + Silent SNP G G A TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr11:47380480G>A uc001nfb.1 - 3 634 c.411C>T c.(409-411)ggC>ggT p.G137G SPI1_uc001nfc.1_Silent_p.G136G|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Silent_p.G130G NM_001080547 NP_001074016 P17947 SPI1_HUMAN Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA. 136 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) TCTGCCGCTCGCCCTCCTCCT 0.706000 3 1 0 0 1 0 0 RASSF2 9770 broad.mit.edu 37 20 4768882 4768882 + Silent SNP G G A TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr20:4768882G>A uc002wld.3 - 7 726 c.672C>T c.(670-672)taC>taT p.Y224Y RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Silent_p.Y224Y NM_170774 NP_739580 P50749 RASF2_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA. 224 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TATGGACCACGTACAAGGCAA 0.383000 4 132 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2877358 2877358 + Silent SNP T T C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr19:2877358T>C uc002lwp.1 + 3 489 c.402T>C c.(400-402)cgT>cgC p.R134R ZNF556_uc002lwq.3_Silent_p.R133R NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R134H(1) endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATTGTAATCGTCATCTGCGCA 0.418000 4 106 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506361 20506361 + Missense_Mutation SNP G G C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr10:20506361G>C uc001iqg.1 + 10 1766 c.1129G>C c.(1129-1131)Gag>Cag p.E377Q PLXDC2_uc001iqh.1_Missense_Mutation_p.E328Q|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 377 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 CTAGTCAAAAGAGAAGATGTG 0.418000 3 58 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58152577 58152577 + Missense_Mutation SNP A A G TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr19:58152577A>G uc002qpr.2 + 5 1218 c.915A>G c.(913-915)atA>atG p.I305M ZNF211_uc010yhb.1_Missense_Mutation_p.I245M|ZNF211_uc002qpp.2_Missense_Mutation_p.I254M|ZNF211_uc002qpq.2_Missense_Mutation_p.I241M|ZNF211_uc002qpt.2_Missense_Mutation_p.I253M|ZNF211_uc010yhc.1_Missense_Mutation_p.I253M|ZNF211_uc010yhe.1_Missense_Mutation_p.I232M|ZNF211_uc010yhd.1_Missense_Mutation_p.I180M NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 241 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTAGCCACATAGACACACTTG 0.448000 3 163 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104192048 104192048 + Missense_Mutation SNP C C T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr9:104192048C>T uc004bbk.2 - 2 395 c.313G>A c.(313-315)Gtg>Atg p.V105M NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 105 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) TTGATTCCCACCACGATCCCC 0.522000 93 254 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366655 248366655 + Missense_Mutation SNP G G T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr1:248366655G>T uc010pzg.2 + 0 286 c.286G>T c.(286-288)Ggt>Tgt p.G96C NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G96V(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTCTATGGCTGGTTGTGCCAC 0.502000 129 310 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139286500 139286500 + Missense_Mutation SNP G G T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr9:139286500G>T uc004chh.3 - 8 878 c.869C>A c.(868-870)cCc>cAc p.P290H NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 290 HTH myb-type 1. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GTTGATGCTGGGGTGCTCCGA 0.627000 5 138 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29508804 29508804 + Splice_Site SNP G G T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr17:29508804G>T uc002hgg.3 + 7 1113 c.730_splice c.e7+1 p.E244_splice NF1_uc002hge.2_Splice_Site_p.E244_splice|NF1_uc002hgf.2_Splice_Site_p.E244_splice|NF1_uc002hgh.3_Splice_Site_p.E244_splice|NF1_uc010csn.2_Splice_Site_p.E104_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 244 MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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 Ras GTPase activator activity|protein binding 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) GATATGGCTGGTAAGGATACG 0.313000 """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) 19 67 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158142278 158142278 + Missense_Mutation SNP G G C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr4:158142278G>C uc003ipm.4 + 0 543 c.84G>C c.(82-84)caG>caC p.Q28H GRIA2_uc011cit.2_Intron|GRIA2_uc021xtr.1_Missense_Mutation_p.Q28H|GRIA2_uc003ipl.4_Missense_Mutation_p.Q28H|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_5'Flank NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 28 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACAGCATACAGATAGGTAGGT 0.358000 63 215 0 0 1 0 0 ATG16L2 89849 broad.mit.edu 37 11 72537766 72537766 + Missense_Mutation SNP A A G TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr11:72537766A>G uc001otd.3 + 12 1304 c.1264A>G c.(1264-1266)Aag>Gag p.K422E ATG16L2_uc001ote.3_Missense_Mutation_p.K316E|ATG16L2_uc009ytj.2_Intron NM_033388 NP_203746 Q8NAA4 A16L2_HUMAN Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA. 422 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTCTGGACACAAGGATAAGGT 0.587000 3 136 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287957 62287957 + Silent SNP T T C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr11:62287957T>C uc001ntl.3 - 4 14232 c.13932A>G c.(13930-13932)caA>caG p.Q4644Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 4644 Q -> H (in Ref. 2; AAA69898). nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGTCTGGGCCTTGAACGTCCA 0.537000 5 306 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149902758 149902758 + Missense_Mutation SNP C C A TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr1:149902758C>A uc001etl.4 - 13 1641 c.1390G>T c.(1390-1392)Gac>Tac p.D464Y SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.D392Y|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 464 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CTGACACTGTCATGAAGAGCA 0.502000 16 36 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34985316 34985316 + Missense_Mutation SNP A A C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr10:34985316A>C uc010qej.2 - 1 482 c.152T>G c.(151-153)tTg>tGg p.L51W PARD3_uc010qep.2_Missense_Mutation_p.L51W|PARD3_uc010qeq.2_Missense_Mutation_p.L51W|PARD3_uc010qek.2_Missense_Mutation_p.L51W|PARD3_uc010qel.2_Missense_Mutation_p.L51W|PARD3_uc010qem.2_Missense_Mutation_p.L51W|PARD3_uc010qen.2_Missense_Mutation_p.L51W|PARD3_uc010qeo.2_Missense_Mutation_p.L51W|PARD3_uc001ixr.2_Missense_Mutation_p.L51W|PARD3_uc001ixq.2_Missense_Mutation_p.L51W|PARD3_uc001ixp.2_Missense_Mutation_p.L51W|PARD3_uc001ixu.2_Missense_Mutation_p.L51W NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 51 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding p.R50G(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCCATGTTCCAAGCGATGCAC 0.413000 38 239 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576561 158576561 + Silent SNP C C T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr1:158576561C>T uc010pio.2 + 0 333 c.333C>T c.(331-333)aaC>aaT p.N111N NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CCTGTACTAACTGCTTCCTTC 0.567000 6 222 0 0 1 0 0 SPI1 6688 broad.mit.edu 37 11 47380480 47380480 + Silent SNP G G A TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr11:47380480G>A uc001nfb.1 - 3 634 c.411C>T c.(409-411)ggC>ggT p.G137G SPI1_uc001nfc.1_Silent_p.G136G|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Silent_p.G130G NM_001080547 NP_001074016 P17947 SPI1_HUMAN Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA. 136 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) TCTGCCGCTCGCCCTCCTCCT 0.706000 3 1 0 0 1 0 0 RASSF2 9770 broad.mit.edu 37 20 4768882 4768882 + Silent SNP G G A TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr20:4768882G>A uc002wld.3 - 7 726 c.672C>T c.(670-672)taC>taT p.Y224Y RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Silent_p.Y224Y NM_170774 NP_739580 P50749 RASF2_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA. 224 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TATGGACCACGTACAAGGCAA 0.383000 4 132 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2877358 2877358 + Silent SNP T T C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr19:2877358T>C uc002lwp.1 + 3 489 c.402T>C c.(400-402)cgT>cgC p.R134R ZNF556_uc002lwq.3_Silent_p.R133R NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R134H(1) endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATTGTAATCGTCATCTGCGCA 0.418000 4 106 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506361 20506361 + Missense_Mutation SNP G G C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr10:20506361G>C uc001iqg.1 + 10 1766 c.1129G>C c.(1129-1131)Gag>Cag p.E377Q PLXDC2_uc001iqh.1_Missense_Mutation_p.E328Q|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 377 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 CTAGTCAAAAGAGAAGATGTG 0.418000 3 58 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58152577 58152577 + Missense_Mutation SNP A A G TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr19:58152577A>G uc002qpr.2 + 5 1218 c.915A>G c.(913-915)atA>atG p.I305M ZNF211_uc010yhb.1_Missense_Mutation_p.I245M|ZNF211_uc002qpp.2_Missense_Mutation_p.I254M|ZNF211_uc002qpq.2_Missense_Mutation_p.I241M|ZNF211_uc002qpt.2_Missense_Mutation_p.I253M|ZNF211_uc010yhc.1_Missense_Mutation_p.I253M|ZNF211_uc010yhe.1_Missense_Mutation_p.I232M|ZNF211_uc010yhd.1_Missense_Mutation_p.I180M NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 241 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTAGCCACATAGACACACTTG 0.448000 3 163 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104192048 104192048 + Missense_Mutation SNP C C T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr9:104192048C>T uc004bbk.2 - 2 395 c.313G>A c.(313-315)Gtg>Atg p.V105M NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 105 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) TTGATTCCCACCACGATCCCC 0.522000 93 254 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366655 248366655 + Missense_Mutation SNP G G T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr1:248366655G>T uc010pzg.2 + 0 286 c.286G>T c.(286-288)Ggt>Tgt p.G96C NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G96V(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTCTATGGCTGGTTGTGCCAC 0.502000 129 310 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139286500 139286500 + Missense_Mutation SNP G G T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr9:139286500G>T uc004chh.3 - 8 878 c.869C>A c.(868-870)cCc>cAc p.P290H NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 290 HTH myb-type 1. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GTTGATGCTGGGGTGCTCCGA 0.627000 5 138 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29508804 29508804 + Splice_Site SNP G G T TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr17:29508804G>T uc002hgg.3 + 7 1113 c.730_splice c.e7+1 p.E244_splice NF1_uc002hge.2_Splice_Site_p.E244_splice|NF1_uc002hgf.2_Splice_Site_p.E244_splice|NF1_uc002hgh.3_Splice_Site_p.E244_splice|NF1_uc010csn.2_Splice_Site_p.E104_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 244 MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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 Ras GTPase activator activity|protein binding 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) GATATGGCTGGTAAGGATACG 0.313000 """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) 19 67 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158142278 158142278 + Missense_Mutation SNP G G C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr4:158142278G>C uc003ipm.4 + 0 543 c.84G>C c.(82-84)caG>caC p.Q28H GRIA2_uc011cit.2_Intron|GRIA2_uc021xtr.1_Missense_Mutation_p.Q28H|GRIA2_uc003ipl.4_Missense_Mutation_p.Q28H|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_5'Flank NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 28 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACAGCATACAGATAGGTAGGT 0.358000 63 215 0 0 1 0 0 ATG16L2 89849 broad.mit.edu 37 11 72537766 72537766 + Missense_Mutation SNP A A G TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr11:72537766A>G uc001otd.3 + 12 1304 c.1264A>G c.(1264-1266)Aag>Gag p.K422E ATG16L2_uc001ote.3_Missense_Mutation_p.K316E|ATG16L2_uc009ytj.2_Intron NM_033388 NP_203746 Q8NAA4 A16L2_HUMAN Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA. 422 autophagy|protein transport cytoplasm protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 14 BRCA - Breast invasive adenocarcinoma(5;2.73e-06) GTCTGGACACAAGGATAAGGT 0.587000 3 136 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287957 62287957 + Silent SNP T T C TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr11:62287957T>C uc001ntl.3 - 4 14232 c.13932A>G c.(13930-13932)caA>caG p.Q4644Q AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 4644 Q -> H (in Ref. 2; AAA69898). nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGTCTGGGCCTTGAACGTCCA 0.537000 5 306 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149902758 149902758 + Missense_Mutation SNP C C A TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr1:149902758C>A uc001etl.4 - 13 1641 c.1390G>T c.(1390-1392)Gac>Tac p.D464Y SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.D392Y|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 464 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CTGACACTGTCATGAAGAGCA 0.502000 16 36 0 0 1 0 0 CHURC1-FNTB 100529261 broad.mit.edu 37 14 65453792 65453793 + Frame_Shift_Ins INS - - A TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 7bfe5181-9f97-4320-8ea1-b9cc00aff036 g.chr14:65453792_65453793insA uc001xia.3 + 0 286_287 c.121_122insA c.(121-123)gaafs p.E41fs CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|BC052775_uc001xib.3_5'Flank NM_002028 NP_002019 B4DL54 B4DL54_HUMAN Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA. 0 multicellular organismal development|positive regulation of transcription, DNA-dependent transferase activity|zinc ion binding CGACTCGGTGGAAACAGTCACG 0.653 17 32 --- --- --- --- CHURC1-FNTB 100529261 broad.mit.edu 37 14 65453792 65453793 + Frame_Shift_Ins INS - - A TCGA-EM-A1CW-01A-21D-A13W-08 TCGA-EM-A1CW-11A-12D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cfbe393-c8cd-4ab6-8d11-929c1f865e61 e2fc2905-a15a-4820-8fe8-32b2720c4e8e g.chr14:65453792_65453793insA uc001xia.3 + 0 286_287 c.121_122insA c.(121-123)gaafs p.E41fs CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|BC052775_uc001xib.3_5'Flank NM_002028 NP_002019 B4DL54 B4DL54_HUMAN Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA. 0 multicellular organismal development|positive regulation of transcription, DNA-dependent transferase activity|zinc ion binding CGACTCGGTGGAAACAGTCACG 0.653 17 32 --- --- --- ---