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 ENST00000374789.3 - 2 477 c.152T>G c.(151-153)tTg>tGg p.L51W PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 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 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 0.004878 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 ENST00000456743.1 + 1 324 c.286G>T c.(286-288)Ggt>Tgt p.G96C NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 4.83686e-69 9.67373e-69 0.003610 1 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 ENST00000379400.3 - 9 867 c.672C>T c.(670-672)taC>taT p.Y224Y RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.Y224Y NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 224 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 0.000602 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 ENST00000296526.7 + 1 409 c.84G>C c.(82-84)caG>caC p.Q28H GRIA2_ENST00000264426.9_Missense_Mutation_p.Q28H|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000504801.1_Intron NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 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 0.003610 0 0 ZNF211 0 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 ENST00000544273.1 + 5 1086 c.759A>G c.(757-759)atA>atG p.I253M ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000347302.3_Missense_Mutation_p.I241M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M|ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M Q13398 ZN211_HUMAN zinc finger protein 211 241 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 0.004672 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316834 39316834 + 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.chr17:39316834C>T ENST00000390661.3 - 1 149 c.110G>A c.(109-111)cGc>cAc p.R37H NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 37 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGCGGCAGCAGGT 0.652000 4 82 0 0 0.000248 0 0 FAM47A 158724 broad.mit.edu 37 X 34148199 34148199 + 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.chrX:34148199G>T ENST00000346193.3 - 1 2248 c.2197C>A c.(2197-2199)Ctt>Att p.L733I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 733 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGTCCATAAAGATCGTCAAGA 0.428000 5 250 0.00116845 0.00182887 0.001168 1 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 ENST00000378024.4 - 5 14206 c.13932A>G c.(13930-13932)caA>caG p.Q4644Q AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 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 0.001168 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 ENST00000586426.1 + 4 486 c.399T>C c.(397-399)cgT>cgC p.R133R ZNF556_ENST00000307635.2_Silent_p.R134R Q9HAH1 ZN556_HUMAN zinc finger protein 556 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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 0.001168 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes 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.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 134 0 0 0.000602 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 ENST00000374855.4 - 3 437 c.313G>A c.(313-315)Gtg>Atg p.V105M ALDOB_ENST00000468981.2_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 105 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|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 0.003610 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 ENST00000361284.1 + 1 333 c.333C>T c.(331-333)aaC>aaT p.N111N NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 111 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 0.001168 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 ENST00000298532.2 - 9 1237 c.869C>A c.(868-870)cCc>cAc p.P290H NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 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 0.00116845 0.00182887 0.001168 1 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 ENST00000358273.4 + 7 1113 c.e7+1 NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 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) 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 6.94344e-10 1.3156e-09 0.006122 1 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 ENST00000321297.5 + 13 1402 c.1264A>G c.(1264-1266)Aag>Gag p.K422E ATG16L2_ENST00000534905.1_Intron NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 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 0.004672 0 0 DYRK1B 9149 broad.mit.edu 37 19 40316404 40316404 + Missense_Mutation 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.chr19:40316404G>A ENST00000593685.1 - 11 2309 c.1841C>T c.(1840-1842)cCt>cTt p.P614L DYRK1B_ENST00000597639.1_Missense_Mutation_p.P586L|DYRK1B_ENST00000430012.2_Missense_Mutation_p.P574L|DYRK1B_ENST00000348817.3_Missense_Mutation_p.P586L|DYRK1B_ENST00000323039.5_Missense_Mutation_p.P614L Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 614 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCCCAGGTGAGGCCCCAGAGT 0.711000 2 0 0 0 0.004672 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 ENST00000377252.3 + 11 1970 c.1129G>C c.(1129-1131)Gag>Cag p.E377Q PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 377 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 0.004672 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + 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.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 46 0 0 0.004672 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 ENST00000439741.2 - 14 1640 c.1390G>T c.(1390-1392)Gac>Tac p.D464Y MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|MTMR11_ENST00000492824.1_5'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 464 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 6.31663e-08 1.13699e-07 0.003163 1 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes 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.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 70 0 0 0.003080 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 ENST00000378538.3 - 4 630 c.408C>T c.(406-408)ggC>ggT p.G136G SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000533030.1_Intron NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 136 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA 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 0.004672 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 ENST00000374789.3 - 2 477 c.152T>G c.(151-153)tTg>tGg p.L51W PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000374788.3_Missense_Mutation_p.L51W NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 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 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 0.004878 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 ENST00000456743.1 + 1 324 c.286G>T c.(286-288)Ggt>Tgt p.G96C NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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 4.83686e-69 8.7943e-69 0.003610 1 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 ENST00000379400.3 - 9 867 c.672C>T c.(670-672)taC>taT p.Y224Y RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.Y224Y NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 224 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 0.000602 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 ENST00000298532.2 - 9 1237 c.869C>A c.(868-870)cCc>cAc p.P290H NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 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 0.00116845 0.00166921 0.001168 1 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 ENST00000296526.7 + 1 409 c.84G>C c.(82-84)caG>caC p.Q28H GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000264426.9_Missense_Mutation_p.Q28H NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 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 0.003610 0 0 ZNF211 0 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 ENST00000544273.1 + 5 1086 c.759A>G c.(757-759)atA>atG p.I253M ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M|ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000347302.3_Missense_Mutation_p.I241M Q13398 ZN211_HUMAN zinc finger protein 211 241 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 0.004672 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA 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.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 20 0 0 0.004672 0 0 FAM47A 158724 broad.mit.edu 37 X 34148199 34148199 + 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.chrX:34148199G>T ENST00000346193.3 - 1 2248 c.2197C>A c.(2197-2199)Ctt>Att p.L733I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 733 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGTCCATAAAGATCGTCAAGA 0.428000 5 250 0.00116845 0.00166921 0.001168 1 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316834 39316834 + 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.chr17:39316834C>T ENST00000390661.3 - 1 149 c.110G>A c.(109-111)cGc>cAc p.R37H NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 37 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGCGGCAGCAGGT 0.652000 4 82 0 0 0.000248 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 ENST00000378024.4 - 5 14206 c.13932A>G c.(13930-13932)caA>caG p.Q4644Q AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 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 0.001168 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 ENST00000439741.2 - 14 1640 c.1390G>T c.(1390-1392)Gac>Tac p.D464Y MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 464 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 6.31663e-08 1.05277e-07 0.003163 1 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 ENST00000586426.1 + 4 486 c.399T>C c.(397-399)cgT>cgC p.R133R ZNF556_ENST00000307635.2_Silent_p.R134R Q9HAH1 ZN556_HUMAN zinc finger protein 556 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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 0.001168 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C 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.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 10 0 0 0.004672 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 ENST00000374855.4 - 3 437 c.313G>A c.(313-315)Gtg>Atg p.V105M ALDOB_ENST00000468981.2_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 105 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|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 0.003610 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 ENST00000378538.3 - 4 630 c.408C>T c.(406-408)ggC>ggT p.G136G SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533030.1_Intron NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 136 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA 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 0.004672 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 ENST00000358273.4 + 7 1113 c.e7+1 NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 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) 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 6.94344e-10 1.20756e-09 0.006122 1 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 ENST00000321297.5 + 13 1402 c.1264A>G c.(1264-1266)Aag>Gag p.K422E ATG16L2_ENST00000534905.1_Intron NM_033388.1 NP_203746.1 Q8NAA4 A16L2_HUMAN autophagy related 16-like 2 (S. cerevisiae) 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 0.004672 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 ENST00000377252.3 + 11 1970 c.1129G>C c.(1129-1131)Gag>Cag p.E377Q PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 377 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 0.004672 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395831 47395831 + Missense_Mutation SNP G G A rs58897090 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.chr1:47395831G>A ENST00000310638.4 - 12 1547 c.1516C>T c.(1516-1518)Ctc>Ttc p.L506F CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 506 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGCCTCCTGAGACGCAGGTGG 0.577000 5 94 0 0 0.001984 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 ENST00000361284.1 + 1 333 c.333C>T c.(331-333)aaC>aaT p.N111N NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 111 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 0.001168 0 0 CTBS 1486 broad.mit.edu 37 1 85040025 85040033 + In_Frame_Del DEL AGCAGCGCT AGCAGCGCT - rs150466708 by1000genomes 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.chr1:85040025_85040033delAGCAGCGCT ENST00000370630.4 - 1 114_122 c.66_74delAGCGCTGCT c.(64-75)ctg>ct p.LALL22del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 22 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) cagcagcgccagcagcgcTAGACCCGGGA 0.718 2 4 --- --- --- --- AC007246.3 0 broad.mit.edu 37 2 39723084 39723085 + RNA INS - - CTTC rs76729915 by1000genomes 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.chr2:39723084_39723085insCTTC ENST00000449569.1 + 0 282 AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000446698.1_RNA NR_037875.1 tctttctttttcttccttcctt 0.351 3 3 --- --- --- --- DSP 1832 broad.mit.edu 37 6 7542148 7542149 + Translation_Start_Site INS - - A rs151331814 by1000genomes 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.chr6:7542148_7542149insA ENST00000379802.3 + 0 341_342 DSP_ENST00000418664.2_De_novo_Start_InFrame NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGCCCGCCGACATGAGCTGCAA 0.718 3 6 --- --- --- --- LRP11 84918 broad.mit.edu 37 6 150174150 150174150 + Translation_Start_Site DEL C 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.chr6:150174150delC ENST00000546019.1 - 0 325 LRP11_ENST00000239367.2_Frame_Shift_Del_p.V254fs|LRP11_ENST00000367368.2_Frame_Shift_Del_p.V254fs Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) TTCATGTCCACTGACGGGTCC 0.532 19 58 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64532452 64532452 + RNA DEL T T - rs67432959 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.chr7:64532452delT ENST00000426828.1 + 0 1228 NR_033416.1 atgcccagccttttttttttt 0.408 2 4 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762432 66762432 + RNA DEL G G - rs60169909 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.chr7:66762432delG ENST00000414507.1 - 0 184 gtctcaaaaagaaaaaaaaaa 0.408 2 4 --- --- --- --- RP11-85K15.2 0 broad.mit.edu 37 14 35390295 35390296 + RNA INS - - T rs113610910 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.chr14:35390295_35390296insT ENST00000556355.1 - 0 524 CACATATTGCAttttttttttt 0.436 3 3 --- --- --- --- FNTB 2342 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 ENST00000246166.2 + 1 355_356 c.121_122insA c.(121-123)aacfs p.N41fs CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) CGACTCGGTGGAAACAGTCACG 0.653 17 32 --- --- --- --- HERC2P9 0 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A 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.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 7 12 --- --- --- --- LRP11 84918 broad.mit.edu 37 6 150174150 150174150 + Translation_Start_Site DEL C 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.chr6:150174150delC ENST00000546019.1 - 0 325 LRP11_ENST00000367368.2_Frame_Shift_Del_p.V254fs|LRP11_ENST00000239367.2_Frame_Shift_Del_p.V254fs Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) TTCATGTCCACTGACGGGTCC 0.532 19 58 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762432 66762432 + RNA DEL G G - rs60169909 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.chr7:66762432delG ENST00000414507.1 - 0 184 gtctcaaaaagaaaaaaaaaa 0.408 2 4 --- --- --- --- RP11-85K15.2 0 broad.mit.edu 37 14 35390295 35390296 + RNA INS - - T rs113610910 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.chr14:35390295_35390296insT ENST00000556355.1 - 0 524 CACATATTGCAttttttttttt 0.436 3 3 --- --- --- --- FNTB 2342 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 ENST00000246166.2 + 1 355_356 c.121_122insA c.(121-123)aacfs p.N41fs CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) CGACTCGGTGGAAACAGTCACG 0.653 17 32 --- --- --- --- SALL3 27164 broad.mit.edu 37 18 76753768 76753769 + Frame_Shift_Ins INS - - G rs2447437 by1000genomes 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.chr18:76753768_76753769insG ENST00000536229.3 + 1 2087_2088 c.1378_1379insG c.(1378-1380)cacfs p.H460fs SALL3_ENST00000575389.2_Frame_Shift_Ins_p.H593fs|SALL3_ENST00000537592.2_Frame_Shift_Ins_p.H593fs Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L593V(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGGGCCGCCCCTCACTAAAGCC 0.733 3 5 --- --- --- ---