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 DNM1 1759 broad.mit.edu 37 9 130984852 130984852 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr9:130984852C>T ENST00000341179.7 + 8 1197 c.1105C>T c.(1105-1107)Cgc>Tgc p.R369C DNM1_ENST00000486160.1_Missense_Mutation_p.R369C|DNM1_ENST00000372923.3_Missense_Mutation_p.R369C|DNM1_ENST00000475805.1_Missense_Mutation_p.R369C|DNM1_ENST00000393594.3_Missense_Mutation_p.R369C NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 369 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CTTCCACGAGCGCTTCCCTTT 0.582000 5 63 0 0 1 0 0 KCTD21 283219 broad.mit.edu 37 11 77884925 77884925 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr11:77884925C>T ENST00000340067.3 - 2 954 c.676G>A c.(676-678)Gag>Aag p.E226K KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA NM_001029859.1 NP_001025030.1 Q4G0X4 KCD21_HUMAN potassium channel tetramerization domain containing 21 226 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) TTCAGTACCTCTTCCACGAAG 0.498000 41 137 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104877943 104877943 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr11:104877943C>G ENST00000393141.2 - 3 370 c.339G>C c.(337-339)aaG>aaC p.K113N CASP5_ENST00000393139.2_Missense_Mutation_p.K67N|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Missense_Mutation_p.K113N|CASP5_ENST00000260315.3_Missense_Mutation_p.K100N|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.K42N NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 100 CARD. apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AATATTTTTTCTTTTCCTCTT 0.368000 20 80 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42045016 42045016 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr8:42045016C>T ENST00000220809.4 - 6 695 c.439G>A c.(439-441)Gag>Aag p.E147K PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.E147K|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.E101K|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.E147K NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 147 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TTGGTGCACTCGGCGCCACTC 0.652000 7 35 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220472880 220472880 + Missense_Mutation SNP T T G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:220472880T>G ENST00000456909.1 + 14 1421 c.1331T>G c.(1330-1332)cTg>cGg p.L444R STK11IP_ENST00000295641.10_Missense_Mutation_p.L455R Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 455 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAAACCCTCTGCCGGCCACC 0.667000 11 41 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145003389 145003389 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr8:145003389C>T ENST00000322810.4 - 25 3722 c.3553G>A c.(3553-3555)Gag>Aag p.E1185K PLEC_ENST00000356346.3_Missense_Mutation_p.E1034K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1052K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1026K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1075K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1048K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1048K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1071K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1016K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1185 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AAGACCTTCTCGGCCTCGGCA 0.687000 3 10 0 0 1 0 0 CD274 29126 broad.mit.edu 37 9 5457197 5457197 + Missense_Mutation SNP G G T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr9:5457197G>T ENST00000381577.3 + 3 257 c.171G>T c.(169-171)tgG>tgT p.W57C CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR NM_014143.3 NP_054862.1 Q9NZQ7 PD1L1_HUMAN CD274 molecule 57 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation endomembrane system|integral to membrane receptor activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) TTGTCTATTGGGAAATGGAGG 0.428000 T CIITA """PMBL, Hodgkin Lymphona, """ 17 37 6.49762e-13 7.15242e-13 1 1 0 TBC1D23 55773 broad.mit.edu 37 3 100009530 100009530 + Silent SNP C C A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr3:100009530C>A ENST00000394144.4 + 5 592 c.585C>A c.(583-585)tcC>tcA p.S195S TBC1D23_ENST00000344949.5_Silent_p.S195S|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.S58S NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 195 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 CTCCAGACTCCTATGCACTCA 0.363000 7 178 3.09899e-07 3.33376e-07 1 1 0 DCAF8L2 347442 broad.mit.edu 37 X 27766666 27766666 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chrX:27766666G>A ENST00000451261.2 + 5 2053 c.1654G>A c.(1654-1656)Ggg>Agg p.G552R NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TGAGCTTACTGGGTTAAAGAA 0.502000 3 22 0 0 1 0 0 PDK3 5165 broad.mit.edu 37 X 24483621 24483621 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chrX:24483621G>A ENST00000441463.2 + 1 49 c.49G>A c.(49-51)Gag>Aag p.E17K PDK3_ENST00000379162.4_Missense_Mutation_p.E17K NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 17 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 CAAGCAGATCGAGCGCTACTC 0.701000 7 16 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346559 48346559 + Missense_Mutation SNP G G T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr11:48346559G>T ENST00000319856.4 + 1 88 c.67G>T c.(67-69)Gtg>Ttg p.V23L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGCATTCTCAGTGACCTTGGA 0.383000 12 108 2.32078e-09 2.53501e-09 1 1 0 NOSIP 51070 broad.mit.edu 37 19 50060161 50060161 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr19:50060161C>T ENST00000391853.3 - 7 659 c.508G>A c.(508-510)Gaa>Aaa p.E170K NOSIP_ENST00000339093.3_Missense_Mutation_p.E173K|NOSIP_ENST00000596358.1_Missense_Mutation_p.E170K NM_015953.4 NP_057037.1 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 170 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) GCCTTGGCTTCGGGCGTCAGC 0.662000 3 14 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61949905 61949905 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:61949905C>G ENST00000336844.5 - 4 639 c.488G>C c.(487-489)gGa>gCa p.G163A CSH2_ENST00000345366.7_Intron|CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Intron NM_022644.3 NP_072170.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 0 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 CAGTGGGGTTCCAGGATTGGC 0.572000 12 117 0 0 1 0 0 KIAA1009 22832 broad.mit.edu 37 6 84904792 84904792 + Splice_Site SNP A A C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:84904792A>C ENST00000403245.3 - 10 951 c.837T>G c.(835-837)ggT>ggG p.G279G KIAA1009_ENST00000257766.4_Splice_Site_p.G203G NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 279 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATAAGAAACACCTGTTGAAA 0.333000 4 13 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15410497 15410497 + Nonsense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:15410497C>G ENST00000341776.2 + 3 468 c.224C>G c.(223-225)tCa>tGa p.S75* JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Nonsense_Mutation_p.S37* NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 75 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GGACCAGCATCAGAACAGTCA 0.463000 15 87 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42847157 42847157 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:42847157G>A ENST00000200557.6 + 3 478 c.309G>A c.(307-309)ctG>ctA p.L103L ADAM11_ENST00000535346.1_5'UTR NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 103 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) ACCTGGAGCTGAACCAGTGAG 0.652000 9 100 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7812116 7812116 + Missense_Mutation SNP T T A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:7812116T>A ENST00000380358.4 + 36 5541 c.5540T>A c.(5539-5541)aTg>aAg p.M1847K CHD3_ENST00000330494.7_Missense_Mutation_p.M1788K|CHD3_ENST00000358181.4_Missense_Mutation_p.M1754K NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1788 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TTTCTGGAGATGAAAAATAAG 0.483000 32 72 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 33 34 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101584765 101584765 + Missense_Mutation SNP G G T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:101584765G>T ENST00000335681.5 + 11 1215 c.930G>T c.(928-930)aaG>aaT p.K310N NPAS2_ENST00000542504.1_Missense_Mutation_p.K375N NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 310 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCAAAGGGAAGTCGTGTTGCT 0.443000 5 61 3.59834e-05 3.676e-05 1 1 0 MAT2B 27430 broad.mit.edu 37 5 162945242 162945242 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr5:162945242C>T ENST00000280969.5 + 7 1126 c.845C>T c.(844-846)gCt>gTt p.A282V MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000321757.6_Missense_Mutation_p.A293V|MAT2B_ENST00000521838.2_3'UTR NM_182796.1 NP_877725.1 Q9NZL9 MAT2B_HUMAN methionine adenosyltransferase II, beta 293 extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 14 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CCGAGAAATGCTCAGCTTGAC 0.408000 9 55 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123385188 123385188 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr3:123385188G>A ENST00000360772.3 - 23 4087 c.3709C>T c.(3709-3711)Ccc>Tcc p.P1237S MYLK_ENST00000346322.5_Missense_Mutation_p.P1168S|MYLK_ENST00000354792.5_Missense_Mutation_p.P37S|MYLK_ENST00000475616.1_Missense_Mutation_p.P1237S|MYLK_ENST00000359169.1_Missense_Mutation_p.P1237S|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Missense_Mutation_p.P1237S Q15746 MYLK_HUMAN myosin light chain kinase 1237 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ATCTGAGGGGGCATTGCTGAG 0.557000 3 31 0 0 1 0 0 DHRSX 207063 broad.mit.edu 37 X 2209583 2209583 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chrX:2209583G>A ENST00000334651.5 - 4 400 c.348C>T c.(346-348)ttC>ttT p.F116F NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 116 binding|oxidoreductase activity p.F116L(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TCTTCATCTTGAACTTCTGCA 0.423000 18 130 0 0 1 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105420454 105420454 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr12:105420454C>G ENST00000258494.9 - 22 2725 c.2585G>C c.(2584-2586)aGa>aCa p.R862T C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 862 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 GTTTATGTCTCTTGTAAAAAC 0.413000 25 146 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60921737 60921737 + Splice_Site SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr20:60921737C>T ENST00000252999.3 - 8 1258 c.e8+1 LAMA5_ENST00000370692.3_Splice_Site|LAMA5_ENST00000370677.3_Splice_Site NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCAGCCCACCTGGCAGTCG 0.672000 6 21 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29793442 29793442 + Missense_Mutation SNP C C A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr18:29793442C>A ENST00000269202.6 + 11 1546 c.1499C>A c.(1498-1500)aCa>aAa p.T500K MEP1B_ENST00000581447.1_Missense_Mutation_p.T500K NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 500 MATH. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GCCACAATGACACTTTTGGAT 0.433000 4 49 0.184627 0.185937 1 1 0 PDS5B 23047 broad.mit.edu 37 13 33262637 33262637 + Missense_Mutation SNP A A C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr13:33262637A>C ENST00000315596.10 + 13 1586 c.1400A>C c.(1399-1401)aAt>aCt p.N467T NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 467 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GTTCCTCACAATTTAGAAACT 0.318000 25 64 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145003665 145003665 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr8:145003665C>T ENST00000322810.4 - 24 3578 c.3409G>A c.(3409-3411)Gag>Aag p.E1137K PLEC_ENST00000356346.3_Missense_Mutation_p.E986K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1004K|PLEC_ENST00000354958.2_Missense_Mutation_p.E978K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1027K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1000K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1000K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1023K|PLEC_ENST00000398774.2_Missense_Mutation_p.E968K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1137 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTGCGCGTCTCACAGGCCTCC 0.682000 7 16 0 0 1 0 0 CYGB 114757 broad.mit.edu 37 17 74527164 74527164 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:74527164C>T ENST00000293230.5 - 3 798 c.436G>A c.(436-438)Gag>Aag p.E146K PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589342.1_Intron|CYGB_ENST00000590175.1_Missense_Mutation_p.E81K|CYGB_ENST00000589145.1_Missense_Mutation_p.E81K NM_134268.4 NP_599030.1 Q8WWM9 CYGB_HUMAN cytoglobin 146 Globin. response to oxidative stress cytoplasm heme binding|oxygen binding|oxygen transporter activity|peroxidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1) 7 CTCTGCGTCTCAGGTGGGAAG 0.642000 5 39 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95795951 95795951 + Missense_Mutation SNP C C T rs145622169 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr8:95795951C>T ENST00000414645.2 + 17 1868 c.1769C>T c.(1768-1770)gCg>gTg p.A590V NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 590 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TTAATGGGTGCGATTAAATTA 0.388000 11 76 0 0 1 0 0 LCA5L 150082 broad.mit.edu 37 21 40777913 40777913 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr21:40777913G>A ENST00000358268.2 - 10 2436 c.1908C>T c.(1906-1908)ccC>ccT p.P636P LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Silent_p.P636P|LCA5L_ENST00000380671.2_Silent_p.P636P O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 636 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) AGGCCTGACTGGGAGGCAGGG 0.453000 13 52 0 0 1 0 0 IFI6 2537 broad.mit.edu 37 1 27992964 27992964 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:27992964G>A ENST00000361157.6 - 5 448 c.321C>T c.(319-321)gtC>gtT p.V107V IFI6_ENST00000339145.4_Silent_p.V115V|IFI6_ENST00000362020.4_Silent_p.V111V NM_002038.3|NM_022872.2|NM_022873.2 NP_002029.3|NP_075010.1|NP_075011.1 P09912 IFI6_HUMAN interferon, alpha-inducible protein 6 107 anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway integral to membrane|mitochondrion protein binding lung(1)|ovary(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TATTACCTATGACGACGCTGC 0.542000 7 64 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100339 110100339 + Missense_Mutation SNP T T C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr8:110100339T>C ENST00000518632.1 + 2 949 c.598T>C c.(598-600)Tat>Cat p.Y200H TRHR_ENST00000311762.2_Missense_Mutation_p.Y200H P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 200 integral to plasma membrane thyrotropin-releasing hormone receptor activity p.Y200H(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TGGTGTCTTTTATGTTGTGCC 0.388000 27 50 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51098998 51098998 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:51098998C>G ENST00000441560.2 + 14 2084 c.1603C>G c.(1603-1605)Caa>Gaa p.Q535E ATL1_ENST00000357032.3_Missense_Mutation_p.Q540E|ATL1_ENST00000354525.4_Missense_Mutation_p.Q535E|ATL1_ENST00000358385.6_Missense_Mutation_p.Q540E NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 540 Sufficient for membrane association. axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 TCTGTATCATCAAGCTTTCCC 0.333000 14 43 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539799 56539799 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr19:56539799C>T ENST00000390649.3 + 7 2200 c.2200C>T c.(2200-2202)Cgg>Tgg p.R734W NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 734 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCCGTATTTGCGGAAAATTCG 0.502000 44 136 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5568128 5568128 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr7:5568128G>A ENST00000331789.5 - 4 777 c.586C>T c.(586-588)Cgc>Tgc p.R196C NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 196 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CTGTAGCCGCGCTCGGTGAGG 0.612000 30 48 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37464799 37464799 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr20:37464799G>A ENST00000299824.1 + 2 420 c.231G>A c.(229-231)ctG>ctA p.L77L PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Silent_p.L77L NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 77 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) AGGCCTCGCTGAGGAACGACG 0.647000 4 38 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104160207 104160207 + Missense_Mutation SNP C C T rs147709536 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:104160207C>T ENST00000414303.2 + 1 209 c.145C>T c.(145-147)Ccg>Tcg p.P49S NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 49 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) ATATTTAGCTCCGAAGGGATT 0.413000 62 321 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34773198 34773198 + Silent SNP C C T rs142551778 byFrequency TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr20:34773198C>T ENST00000338074.2 + 7 887 c.726C>T c.(724-726)ttC>ttT p.F242F EPB41L1_ENST00000373950.2_Silent_p.F145F|EPB41L1_ENST00000373946.3_Silent_p.F211F|EPB41L1_ENST00000441639.1_Silent_p.F180F|EPB41L1_ENST00000202028.5_Silent_p.F180F|EPB41L1_ENST00000373941.1_Silent_p.F242F NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 242 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AGCTCCGCTTCGCCCCTAACC 0.592000 22 33 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48032803 48032803 + Silent SNP C C G rs63751434 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:48032803C>G ENST00000234420.5 + 7 3755 c.3603C>G c.(3601-3603)ctC>ctG p.L1201L MSH6_ENST00000540021.1_Silent_p.L1071L|MSH6_ENST00000538136.1_Silent_p.L899L|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCAGCATACTCATGCATGCAA 0.294000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 7 103 0 0 1 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45711439 45711439 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:45711439G>A ENST00000310806.4 - 4 1399 c.941C>T c.(940-942)tCg>tTg p.S314L MIS18BP1_ENST00000492652.1_5'UTR NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 314 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TTTCTGTTGCGAAGTCCCTTC 0.393000 20 71 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231406669 231406669 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:231406669G>C ENST00000340126.4 + 28 2497 c.2466G>C c.(2464-2466)ttG>ttC p.L822F AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA NM_001080391.1 NP_001073860.1 P23497 SP100_HUMAN SP100 nuclear antigen 0 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGACAAGTTTGAATGAGCAGA 0.478000 8 59 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43833793 43833793 + Silent SNP T T C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr12:43833793T>C ENST00000389420.3 - 17 2369 c.2370A>G c.(2368-2370)caA>caG p.Q790Q ADAMTS20_ENST00000553158.1_Silent_p.Q790Q NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 790 Spacer. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTCTTGTTCCTTGCACATTGA 0.303000 5 14 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440746 145440746 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:145440746G>C ENST00000369317.4 + 6 1280 c.946G>C c.(946-948)Gag>Cag p.E316Q TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 316 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AACCAGCTCTGAGATGAGTTG 0.493000 4 56 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5461922 5461922 + Missense_Mutation SNP C C A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr4:5461922C>A ENST00000282908.5 + 9 1298 c.876C>A c.(874-876)ttC>ttA p.F292L STK32B_ENST00000510398.1_Missense_Mutation_p.F245L|STK32B_ENST00000512636.1_Missense_Mutation_p.F215L|STK32B_ENST00000508728.1_3'UTR NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 292 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 ACGCGGTGTTCAAGAAGGCAC 0.587000 OREG0016061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 75 1.12685e-05 1.17656e-05 1 1 0 AXIN2 8313 broad.mit.edu 37 17 63554211 63554211 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:63554211G>A ENST00000307078.5 - 2 841 c.528C>T c.(526-528)acC>acT p.T176T CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Silent_p.T176T NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 176 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 ACTGGATCTCGGTCTGCGCCT 0.473000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 8 43 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86274333 86274333 + Missense_Mutation SNP C C A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:86274333C>A ENST00000263857.6 - 19 3066 c.2688G>T c.(2686-2688)atG>atT p.M896I POLR1A_ENST00000409681.1_Missense_Mutation_p.M896I O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 896 M -> L (in Ref. 1; AAC99959). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 ACTGCACCATCATCTGCAGGC 0.522000 18 59 4.35082e-09 4.71615e-09 1 1 0 RNF213 57674 broad.mit.edu 37 17 78363030 78363030 + Missense_Mutation SNP G G A rs151136922 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:78363030G>A ENST00000582970.1 + 65 15201 c.15058G>A c.(15058-15060)Gat>Aat p.D5020N CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.D3093N|RNF213_ENST00000508628.2_Missense_Mutation_p.D5069N|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTCCTACAGCGATGCCTGTGA 0.532000 27 99 0 0 1 0 0 DCAF13 25879 broad.mit.edu 37 8 104453809 104453809 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr8:104453809C>G ENST00000297579.5 + 10 1946 c.1669C>G c.(1669-1671)Cag>Gag p.Q557E NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 405 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 TAGCCAGATTCAGGAACAGCG 0.383000 9 118 0 0 1 0 0 FNDC4 64838 broad.mit.edu 37 2 27716338 27716338 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:27716338G>A ENST00000264703.3 - 5 853 c.462C>T c.(460-462)atC>atT p.I154I NM_022823.2 NP_073734.1 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 154 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) CTTCCACTGTGATGTCACCTG 0.552000 35 131 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172579279 172579279 + Missense_Mutation SNP G G T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:172579279G>T ENST00000367723.4 + 23 4222 c.4098G>T c.(4096-4098)ttG>ttT p.L1366F SUCO_ENST00000608151.1_Missense_Mutation_p.L1367F|SUCO_ENST00000263688.3_Missense_Mutation_p.L1215F|SUCO_ENST00000610051.1_Missense_Mutation_p.L844F NM_016227.2 NP_057311.3 SUN domain containing ossification factor AAGGAAAATTGATAAAAACTC 0.413000 8 38 1.12685e-05 1.17656e-05 1 1 0 ABCB7 22 broad.mit.edu 37 X 74288844 74288844 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chrX:74288844G>C ENST00000253577.3 - 12 1684 c.1660C>G c.(1660-1662)Cag>Gag p.Q554E ABCB7_ENST00000339447.4_Missense_Mutation_p.Q513E|ABCB7_ENST00000373394.3_Missense_Mutation_p.Q553E|ABCB7_ENST00000534570.1_5'UTR NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 553 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TTAAATACCTGAGGTACCACT 0.398000 18 108 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112657 148112657 + Missense_Mutation SNP C C A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr7:148112657C>A ENST00000361727.3 + 24 4461 c.3945C>A c.(3943-3945)gaC>gaA p.D1315E CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D374E NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1315 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGAACAACGACCCCAACTTCA 0.547000 HNSCC(39;0.1) 12 54 1.36491e-13 1.5142e-13 1 1 0 OR56B1 387748 broad.mit.edu 37 11 5757852 5757852 + Silent SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr11:5757852C>T ENST00000317121.3 + 1 172 c.106C>T c.(106-108)Cta>Tta p.L36L TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GCAACACTGGCTATCTCTGCC 0.498000 12 50 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733724 28733724 + RNA SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:28733724C>T ENST00000550043.1 + 0 129 CGCAGCCCGGCGCGGACTCCG 0.726000 5 5 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90647930 90647930 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:90647930G>A ENST00000257749.4 - 8 2683 c.1976C>T c.(1975-1977)gCg>gTg p.A659V BACH2_ENST00000343122.3_Missense_Mutation_p.A659V|BACH2_ENST00000537989.1_Missense_Mutation_p.A659V NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 659 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GCGCTGGGCCGCGATGCGGTT 0.463000 4 84 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45000987 45000987 + Missense_Mutation SNP C C A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr12:45000987C>A ENST00000429094.2 - 15 2132 c.1628G>T c.(1627-1629)tGc>tTc p.C543F NELL2_ENST00000549027.1_Missense_Mutation_p.C542F|NELL2_ENST00000437801.2_Missense_Mutation_p.C593F|NELL2_ENST00000333837.4_Missense_Mutation_p.C566F|NELL2_ENST00000395487.2_Missense_Mutation_p.C542F|NELL2_ENST00000551601.1_Missense_Mutation_p.C542F|NELL2_ENST00000452445.2_Missense_Mutation_p.C543F NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 543 EGF-like 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GCCTTGTGGGCAGGCACACAC 0.393000 5 31 1.23904e-05 1.28426e-05 1 1 0 SEC31A 22872 broad.mit.edu 37 4 83770122 83770122 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr4:83770122G>C ENST00000432794.1 - 20 2500 c.2337C>G c.(2335-2337)atC>atG p.I779M SEC31A_ENST00000508479.1_Missense_Mutation_p.I779M|SEC31A_ENST00000264405.5_Missense_Mutation_p.I512M|SEC31A_ENST00000509142.1_Missense_Mutation_p.I779M|SEC31A_ENST00000395310.2_Missense_Mutation_p.I779M|SEC31A_ENST00000500777.2_Missense_Mutation_p.I740M|SEC31A_ENST00000505984.1_Missense_Mutation_p.I740M|SEC31A_ENST00000348405.4_Missense_Mutation_p.I740M|SEC31A_ENST00000355196.2_Missense_Mutation_p.I779M|SEC31A_ENST00000505472.1_Missense_Mutation_p.I779M|SEC31A_ENST00000311785.7_Missense_Mutation_p.I779M|SEC31A_ENST00000508502.1_Missense_Mutation_p.I779M|SEC31A_ENST00000443462.2_Missense_Mutation_p.I774M|SEC31A_ENST00000448323.1_Missense_Mutation_p.I779M|SEC31A_ENST00000513858.1_Missense_Mutation_p.I740M|SEC31A_ENST00000326950.5_Missense_Mutation_p.I740M O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 779 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GAAGCTGCATGATATTTGGCT 0.418000 11 92 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27829655 27829655 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:27829655G>A ENST00000261716.3 + 13 1771 c.1252G>A c.(1252-1254)Gat>Aat p.D418N TAOK1_ENST00000536202.1_Missense_Mutation_p.D418N NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 418 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) AAGAGCATCAGATCCACAATC 0.388000 14 42 0 0 1 0 0 C9orf50 375759 broad.mit.edu 37 9 132381833 132381833 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr9:132381833G>C ENST00000372478.4 - 3 883 c.682C>G c.(682-684)Cac>Gac p.H228D NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 228 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) AATTGTGAGTGATCACCCTTC 0.517000 34 70 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433083 55433083 + Nonsense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr11:55433083G>A ENST00000314259.3 + 1 470 c.441G>A c.(439-441)tgG>tgA p.W147* NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GAGGGGCTTGGGTGGGGGGAT 0.473000 18 64 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132891840 132891840 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:132891840C>T ENST00000275198.1 + 1 380 c.380C>T c.(379-381)tCc>tTc p.S127F NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 127 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TGCTTCATCTCCATCGACAGG 0.488000 80 128 0 0 1 0 0 JDP2 122953 broad.mit.edu 37 14 75904727 75904727 + Missense_Mutation SNP T T G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:75904727T>G ENST00000435893.2 + 2 377 c.104T>G c.(103-105)cTg>cGg p.L35R JDP2_ENST00000267569.5_Missense_Mutation_p.L46R|JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000437176.1_Missense_Mutation_p.L35R|JDP2_ENST00000419727.2_Missense_Mutation_p.L35R NM_001135047.1|NM_130469.3 NP_001128519.1|NP_569736.1 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 35 nucleus sequence-specific DNA binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.0296) GTGGAGGAGCTGAAATACGCT 0.642000 5 15 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179765522 179765522 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr5:179765522C>T ENST00000253778.8 - 2 255 c.86G>A c.(85-87)cGg>cAg p.R29Q NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 29 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GTACTCCAGCCGCTGCAGGCC 0.597000 3 10 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4722802 4722802 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr12:4722802G>A ENST00000540757.2 + 13 1606 c.1446G>A c.(1444-1446)ctG>ctA p.L482L DYRK4_ENST00000010132.5_Silent_p.L482L|DYRK4_ENST00000545342.1_Silent_p.L119L|DYRK4_ENST00000543431.1_Silent_p.L481L|RP11-500M8.7_ENST00000536588.1_Intron NM_001282285.1|NM_001282286.1|NM_003845.1 NP_001269214.1|NP_001269215.1|NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 482 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) TGCCTCAACTGGTAGACGCTC 0.532000 6 27 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35723250 35723250 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr3:35723250G>C ENST00000187397.4 + 3 463 c.7G>C c.(7-9)Gag>Cag p.E3Q ARPP21_ENST00000337271.5_Missense_Mutation_p.E3Q|ARPP21_ENST00000417925.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000436702.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000427542.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000432682.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000396481.2_Missense_Mutation_p.E3Q|ARPP21_ENST00000396482.2_Missense_Mutation_p.E3Q|ARPP21_ENST00000444190.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000428373.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000438071.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000412048.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000474696.1_Missense_Mutation_p.E3Q|ARPP21_ENST00000441454.1_Missense_Mutation_p.E3Q NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 3 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GAGAATGTCTGAGCAAGGAGA 0.413000 5 16 0 0 1 0 0 KIAA1033 23325 broad.mit.edu 37 12 105553894 105553894 + Missense_Mutation SNP C C A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr12:105553894C>A ENST00000332180.5 + 29 3115 c.3028C>A c.(3028-3030)Ctc>Atc p.L1010I NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 1010 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GAATATACATCTCCGAAATTT 0.358000 15 122 2.31682e-05 2.38398e-05 1 1 0 ATAD2 29028 broad.mit.edu 37 8 124351680 124351680 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr8:124351680C>T ENST00000287394.5 - 20 2832 c.2725G>A c.(2725-2727)Gaa>Aaa p.E909K ATAD2_ENST00000521903.1_Missense_Mutation_p.E227K NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 909 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATAAACAATTCTTGCACCTTA 0.299000 18 60 0 0 1 0 0 ZNF14 7561 broad.mit.edu 37 19 19823533 19823533 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr19:19823533C>G ENST00000344099.3 - 4 695 c.557G>C c.(556-558)aGa>aCa p.R186T NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) CCTTTCATGTCTTTGAAATGG 0.388000 14 62 0 0 1 0 0 ANXA2 302 broad.mit.edu 37 15 60648136 60648136 + Silent SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr15:60648136C>T ENST00000396024.3 - 8 669 c.510G>A c.(508-510)ctG>ctA p.L170L ANXA2_ENST00000421017.2_Silent_p.L170L|ANXA2_ENST00000332680.4_Silent_p.L188L|ANXA2_ENST00000451270.2_Silent_p.L170L NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 170 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) GGGCAACCATCAGCTTGCGGA 0.443000 12 56 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79374960 79374960 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr5:79374960G>A ENST00000350881.2 + 19 2580 c.2390G>A c.(2389-2391)gGc>gAc p.G797D CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000504720.1_3'UTR|THBS4_ENST00000511733.1_Missense_Mutation_p.G706D NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 797 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GACTATGCAGGCTTTATCTTT 0.478000 21 45 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138612941 138612941 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chrX:138612941G>A ENST00000218099.2 + 1 25 c.18G>A c.(16-18)atG>atA p.M6I F9_ENST00000394090.2_Missense_Mutation_p.M6I|F9_ENST00000479617.2_3'UTR NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 6 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) GCGTGAACATGATCATGGCAG 0.408000 15 71 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6387578 6387578 + Silent SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:6387578C>T ENST00000262483.8 - 5 396 c.309G>A c.(307-309)agG>agA p.R103R PITPNM3_ENST00000421306.3_Silent_p.R67R NM_031220.3 NP_112497.2 Q9BZ71 PITM3_HUMAN PITPNM family member 3 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GGGCTGGGAACCTCTGTCTTC 0.577000 6 94 0 0 1 0 0 NRM 11270 broad.mit.edu 37 6 30657885 30657885 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:30657885G>A ENST00000259953.4 - 3 620 c.269C>T c.(268-270)tCc>tTc p.S90F NRM_ENST00000376420.5_Missense_Mutation_p.S90F|NRM_ENST00000376421.5_Missense_Mutation_p.S90F|NRM_ENST00000470733.1_5'UTR NM_007243.2 NP_009174.1 Q8IXM6 NRM_HUMAN nurim (nuclear envelope membrane protein) 90 integral to membrane|nuclear inner membrane large_intestine(1)|lung(2) 3 AAAGTACCGGGATGTCCATGC 0.587000 10 82 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90458947 90458947 + Missense_Mutation SNP G G T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:90458947G>T ENST00000369393.3 - 26 3872 c.3757C>A c.(3757-3759)Ctt>Att p.L1253I MDN1_ENST00000428876.1_Missense_Mutation_p.L1253I Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1253 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGTACCTGAAGATCCAGCATG 0.378000 14 35 1.3612e-06 1.45331e-06 1 1 0 ZNF132 7691 broad.mit.edu 37 19 58945495 58945495 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr19:58945495G>C ENST00000254166.3 - 3 1716 c.1316C>G c.(1315-1317)gCt>gGt p.A439G NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 439 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) ATTGTTAAAAGCTCTTCCACA 0.473000 11 88 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36372659 36372659 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:36372659G>C ENST00000373204.4 + 12 1734 c.1521G>C c.(1519-1521)aaG>aaC p.K507N AGO1_ENST00000373206.1_Missense_Mutation_p.K432N NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GGCATCTCAAGAACACCTACT 0.517000 11 48 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83023647 83023647 + Missense_Mutation SNP A A T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr7:83023647A>T ENST00000307792.3 - 13 1933 c.1466T>A c.(1465-1467)gTt>gAt p.V489D SEMA3E_ENST00000427262.1_Missense_Mutation_p.V429D NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 489 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AATAATAGGAACTGGATCCTG 0.318000 16 21 0 0 1 0 0 CCL2 6347 broad.mit.edu 37 17 32583295 32583295 + Nonsense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:32583295C>G ENST00000225831.4 + 2 196 c.131C>G c.(130-132)tCa>tGa p.S44* CCL2_ENST00000580907.1_Nonsense_Mutation_p.S44* NM_002982.3 NP_002973.1 P13500 CCL2_HUMAN chemokine (C-C motif) ligand 2 44 angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 6 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) AGGAAGATCTCAGTGCAGAGG 0.453000 21 81 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47098490 47098490 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr3:47098490G>A ENST00000409792.3 - 15 6826 c.6784C>T c.(6784-6786)Ccc>Tcc p.P2262S NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2262 Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ACTGGGCCGGGGGCCGGCACT 0.532000 """N, F, S, Mis""" clear cell renal carcinoma 15 36 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134583106 134583106 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:134583106C>G ENST00000367858.5 - 2 847 c.250G>C c.(250-252)Gag>Cag p.E84Q SGK1_ENST00000524929.1_Missense_Mutation_p.E84Q NM_001143676.1 NP_001137148.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 0 apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) GAACATGACTCGTTCTCCTGA 0.478000 22 89 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209224 71209224 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:71209224C>G ENST00000554752.2 - 6 1410 c.1411G>C c.(1411-1413)Gag>Cag p.E471Q MAP3K9_ENST00000555993.2_Missense_Mutation_p.E471Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E208Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E471Q|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E165Q NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 471 Leucine-zipper 2. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TCGGCCAGCTCCTGCTCCCGA 0.622000 12 34 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197031988 197031988 + Splice_Site SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:197031988G>A ENST00000367412.1 - 2 307 c.264C>T c.(262-264)ttC>ttT p.F88F NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 88 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CTGACTTACTGAAGCACCTTG 0.393000 18 126 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47241497 47241497 + Missense_Mutation SNP C C T rs145043273 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:47241497C>T ENST00000300404.2 + 8 1053 c.994C>T c.(994-996)Cgc>Tgc p.R332C B4GALNT2_ENST00000393354.2_Missense_Mutation_p.R272C|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.R246C NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 332 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GACTTTCCTCCGCCCCCACAA 0.502000 65 69 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49325231 49325231 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr15:49325231C>G ENST00000559471.1 - 4 858 c.595G>C c.(595-597)Gaa>Caa p.E199Q SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E199Q NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 199 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 GCATTTGTTTCTTTCTGAGTA 0.378000 5 116 0 0 1 0 0 IQCC 55721 broad.mit.edu 37 1 32671293 32671293 + Missense_Mutation SNP A A T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:32671293A>T ENST00000537469.1 + 1 58 c.11A>T c.(10-12)gAg>gTg p.E4V IQCC_ENST00000291358.6_Missense_Mutation_p.E4V|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 4 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ATGGAGCCAGAGCTGCTGGTT 0.657000 4 8 0 0 1 0 0 GLS 2744 broad.mit.edu 37 2 191760340 191760340 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:191760340C>G ENST00000320717.3 + 3 752 c.494C>G c.(493-495)tCt>tGt p.S165C GLS_ENST00000338435.4_Missense_Mutation_p.S165C NM_014905.4 NP_055720.3 O94925 GLSK_HUMAN glutaminase 165 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCACTCAAATCTACAGGATTG 0.308000 22 60 0 0 1 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043873 26043873 + Missense_Mutation SNP A A T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:26043873A>T ENST00000357905.2 - 1 12 c.13T>A c.(13-15)Tct>Act p.S5T NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 5 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GCAGACTTAGAGGGTTCAGGC 0.453000 8 39 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6719303 6719303 + Silent SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr19:6719303G>A ENST00000245907.6 - 2 278 c.186C>T c.(184-186)ttC>ttT p.F62F NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 62 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTTTGCCTGGGAAGTCGTGGA 0.587000 8 74 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88400731 88400731 + Splice_Site SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr4:88400731C>G ENST00000418378.1 - 11 2389 c.e11-1 SPARCL1_ENST00000282470.6_Splice_Site|SPARCL1_ENST00000503414.1_Splice_Site NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TGTCAAGACTCTGCAATGAAA 0.448000 8 39 0 0 1 0 0 ADRA1B 147 broad.mit.edu 37 5 159344797 159344797 + Silent SNP G G A rs149628499 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr5:159344797G>A ENST00000306675.3 + 1 1008 c.885G>A c.(883-885)acG>acA p.T295T NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 295 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) CAGCTAAGACGTTGGGCATTG 0.517000 4 135 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206166544 206166544 + Silent SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:206166544C>T ENST00000462231.1 + 19 2881 c.2721C>T c.(2719-2721)taC>taT p.Y907Y PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000358768.2_Intron Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 0 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CAAATGCATACGGCTCTCAAT 0.443000 7 30 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123965662 123965662 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr8:123965662G>C ENST00000314393.4 + 3 2747 c.1912G>C c.(1912-1914)Gaa>Caa p.E638Q NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 638 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AAAAAGTCAAGAACAGGTTCA 0.572000 14 63 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73790609 73790609 + Missense_Mutation SNP G G T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr7:73790609G>T ENST00000223398.6 + 10 2205 c.1878G>T c.(1876-1878)aaG>aaT p.K626N CLIP2_ENST00000361545.5_Missense_Mutation_p.K591N|CLIP2_ENST00000395060.1_Missense_Mutation_p.K626N NM_003388.4 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 626 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 ACCACCAGAAGTCCCTGGAGG 0.612000 7 27 0.0293803 0.0298001 1 1 0 WDFY3 23001 broad.mit.edu 37 4 85645714 85645714 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr4:85645714C>G ENST00000322366.6 - 45 7662 c.7255G>C c.(7255-7257)Gac>Cac p.D2419H WDFY3_ENST00000295888.4_Missense_Mutation_p.D2436H Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2436 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCTTTACTGTCATAACTTACG 0.428000 27 69 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20161148 20161148 + Silent SNP T T G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr3:20161148T>G ENST00000263754.4 + 8 1664 c.1209T>G c.(1207-1209)ctT>ctG p.L403L NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 403 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 CATCTTCCCTTGAGCAGCCAA 0.512000 19 30 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102740680 102740680 + Silent SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr10:102740680C>G ENST00000210633.3 + 12 1647 c.1569C>G c.(1567-1569)ccC>ccG p.P523P MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.P523P|SEMA4G_ENST00000370250.4_Silent_p.P523P|MRPL43_ENST00000318325.2_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 523 PSI. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CCCGAGACCCCTACTGTGGCT 0.632000 22 127 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14109091 14109091 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:14109091G>A ENST00000235372.7 + 8 5657 c.4801G>A c.(4801-4803)Gct>Act p.A1601T PRDM2_ENST00000343137.4_Missense_Mutation_p.A1400T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A1601T|PRDM2_ENST00000413440.1_Missense_Mutation_p.A1400T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1601 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GAATCATTCTGCTCAGCTTTC 0.453000 11 48 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600885 41600885 + Silent SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr19:41600885C>T ENST00000330436.3 + 8 1183 c.1183C>T c.(1183-1185)Ctg>Ttg p.L395L NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 395 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GTTCCCTATGCTGGGCTCCGT 0.572000 25 75 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061773 103061773 + Missense_Mutation SNP T T C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:103061773T>C ENST00000264260.2 + 9 1634 c.1045T>C c.(1045-1047)Tcc>Ccc p.S349P IL18RAP_ENST00000409369.1_Missense_Mutation_p.S207P NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 349 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CACAACCCAGTCCGTCCAACT 0.448000 17 40 0 0 1 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827480 43827480 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr15:43827480C>G ENST00000420765.1 - 31 3876 c.3694G>C c.(3694-3696)Gag>Cag p.E1232Q PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1228Q|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1208Q|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1207Q|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.E1232Q|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1205Q|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1207Q|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1205Q NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1232 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 TCAAAAAGCTCTTGCTCCCCT 0.557000 36 54 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158639340 158639340 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:158639340C>T ENST00000368147.4 - 14 1871 c.1691G>A c.(1690-1692)cGg>cAg p.R564Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TAGGGCATCCCGCCGGGCTAA 0.493000 14 89 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122437840 122437840 + Silent SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr12:122437840C>T ENST00000288912.4 + 20 4079 c.3225C>T c.(3223-3225)ctC>ctT p.L1075L NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1075 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TGAGACTGCTCGTTACTAAAG 0.507000 9 45 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65191564 65191564 + Missense_Mutation SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:65191564G>C ENST00000358691.5 - 8 618 c.452C>G c.(451-453)tCt>tGt p.S151C HELZ_ENST00000580168.1_Missense_Mutation_p.S151C|HELZ_ENST00000580662.1_Intron NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GTGATATCCAGAGAGGGCGTT 0.358000 4 93 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901723 40901723 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr19:40901723G>A ENST00000324001.7 - 7 2806 c.2536C>T c.(2536-2538)Cat>Tat p.H846Y PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 846 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACACCCACATGAGCCTCACCA 0.622000 8 76 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53620515 53620515 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chrX:53620515C>G ENST00000342160.3 - 31 4007 c.3550G>C c.(3550-3552)Gag>Cag p.E1184Q HUWE1_ENST00000218328.8_Missense_Mutation_p.E1184Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.E1184Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1184 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCCAATCCCTCAGAAACAGGA 0.453000 12 34 0 0 1 0 0 RBBP4 5928 broad.mit.edu 37 1 33134446 33134446 + Silent SNP A A C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:33134446A>C ENST00000373493.5 + 5 750 c.591A>C c.(589-591)tcA>tcC p.S197S RBBP4_ENST00000414241.3_Silent_p.S196S|RBBP4_ENST00000458695.2_Silent_p.S162S|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000373485.1_Silent_p.S197S|RBBP4_ENST00000544435.1_5'UTR NM_001135255.1|NM_005610.2 NP_001128727.1|NP_005601.1 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 197 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TTAGTGCTTCAGATGACCATG 0.478000 17 49 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46766363 46766363 + Nonsense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:46766363C>T ENST00000230588.4 + 4 175 c.166C>T c.(166-168)Caa>Taa p.Q56* NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 56 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GGACCTCTTTCAAGGGGACAT 0.418000 20 73 0 0 1 0 0 MIIP 60672 broad.mit.edu 37 1 12089942 12089942 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:12089942C>T ENST00000235332.4 + 7 1005 c.836C>T c.(835-837)gCg>gTg p.A279V MIIP_ENST00000436478.2_Missense_Mutation_p.A279V|MIIP_ENST00000466860.1_3'UTR NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 279 Interaction with IGFBP2. autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 GCGCAGCCAGCGCACGTCAGG 0.662000 3 24 0 0 1 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43826919 43826919 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr15:43826919C>T ENST00000420765.1 - 31 4437 c.4255G>A c.(4255-4257)Gag>Aag p.E1419K PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1415K|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1395K|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1394K|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.E1419K|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1392K|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1394K|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1392K NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1419 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 TCAATCTCCTCAGGGAACTCT 0.527000 57 106 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28963251 28963251 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:28963251C>G ENST00000377179.3 - 7 2040 c.1528G>C c.(1528-1530)Gat>Cat p.D510H ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 CAGTGCTTATCTTGGAAGGTT 0.468000 11 68 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878220 39878220 + Silent SNP G G C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:39878220G>C ENST00000530275.1 + 1 2070 c.1875G>C c.(1873-1875)ctG>ctC p.L625L MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 625 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGAGATTCTGAGTCTGCACC 0.493000 7 57 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70926021 70926021 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:70926021C>T ENST00000603540.1 + 2 2063 c.1805C>T c.(1804-1806)tCt>tTt p.S602F RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S602F NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 602 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ATGAACATATCTGACATTGGT 0.428000 10 59 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31719799 31719799 + Silent SNP T T C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr13:31719799T>C ENST00000320027.5 - 11 1829 c.1485A>G c.(1483-1485)gcA>gcG p.A495A HSPH1_ENST00000429785.2_Silent_p.A314A|HSPH1_ENST00000380406.5_Silent_p.A454A|HSPH1_ENST00000380405.4_Silent_p.A495A|HSPH1_ENST00000445273.2_Silent_p.A497A NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 495 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CCACCATAGATGCCGTAGAGA 0.433000 4 97 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32217585 32217585 + Missense_Mutation SNP C C T rs140481995 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr20:32217585C>T ENST00000492345.1 + 10 1718 c.1033C>T c.(1033-1035)Cgc>Tgc p.R345C CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R384C|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R345C|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R374C|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.R374C|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R365C O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 374 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 AGTTCTGCGGCGCTGTCAGGA 0.502000 6 73 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6714367 6714367 + Missense_Mutation SNP C C T rs147549358 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr19:6714367C>T ENST00000245907.6 - 5 687 c.595G>A c.(595-597)Gtc>Atc p.V199I NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 199 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ACATACTTGACGAGTTCCGGA 0.617000 8 21 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152348641 152348641 + Missense_Mutation SNP C C T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:152348641C>T ENST00000397345.3 - 178 25230 c.25028G>A c.(25027-25029)cGg>cAg p.R8343Q RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.R318Q|NEB_ENST00000172853.10_Missense_Mutation_p.R6487Q|NEB_ENST00000509223.2_Missense_Mutation_p.R256Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8343Q|NEB_ENST00000427231.2_Missense_Mutation_p.R8343Q|NEB_ENST00000409198.1_Missense_Mutation_p.R6487Q|NEB_ENST00000603639.1_Missense_Mutation_p.R8343Q|NEB_ENST00000498015.2_5'UTR NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 6487 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTGGTCATTCCGTTTTTGTTC 0.433000 14 139 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75283677 75283677 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:75283677G>A ENST00000325680.7 + 14 5853 c.5729G>A c.(5728-5730)cGc>cAc p.R1910H YLPM1_ENST00000552421.1_Missense_Mutation_p.R1204H|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1675H NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1715 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAGACTTACCGCACCAGCATG 0.408000 4 18 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139483 142139483 + RNA SNP G G T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr7:142139483G>T ENST00000390374.3 - 0 186 AGGGATACATGACCCGAAATT 0.512000 7 53 2.0095e-06 2.12947e-06 1 1 0 UBQLN1 29979 broad.mit.edu 37 9 86284243 86284243 + Splice_Site SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr9:86284243C>G ENST00000376395.4 - 7 1629 c.e7-1 UBQLN1_ENST00000257468.7_Splice_Site NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 AACATACTAGCTGAAAGTTTG 0.328000 14 30 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40323631 40323631 + Missense_Mutation SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr18:40323631C>G ENST00000326695.5 - 5 652 c.481G>C c.(481-483)Gag>Cag p.E161Q RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR NM_002930.2 NP_002921.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 161 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCAGAGGTCTCAAAAAAACCA 0.378000 4 36 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160851088 160851088 + Silent SNP G G A rs142202671 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:160851088G>A ENST00000326245.3 - 5 535 c.420C>T c.(418-420)taC>taT p.Y140Y ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 140 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCTGGATGTCGTAGTAGCCAG 0.592000 5 57 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58560179 58560179 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr20:58560179G>A ENST00000348616.4 + 7 1132 c.832G>A c.(832-834)Gag>Aag p.E278K CDH26_ENST00000244047.5_Missense_Mutation_p.E278K NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 278 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) ATTTACCCAGGAGAACGTGAG 0.552000 8 28 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791022 95791022 + Silent SNP C C G TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr10:95791022C>G ENST00000371380.3 + 1 454 c.219C>G c.(217-219)ctC>ctG p.L73L PLCE1_ENST00000260766.3_Silent_p.L73L Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CAAAGATTCTCTCAATAGCGA 0.398000 9 66 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53185005 53185005 + Missense_Mutation SNP A A T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:53185005A>T ENST00000445930.2 + 9 698 c.692A>T c.(691-693)gAa>gTa p.E231V PSMC6_ENST00000606149.1_Missense_Mutation_p.E217V P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 217 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TTGATCAGAGAAATGTTTAAT 0.313000 17 91 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 46 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69184271 69184271 + Missense_Mutation SNP T T C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr4:69184271T>C ENST00000344157.4 - 15 2125 c.1790A>G c.(1789-1791)cAt>cGt p.H597R YTHDC1_ENST00000355665.3_Missense_Mutation_p.H579R|YTHDC1_ENST00000579690.1_Missense_Mutation_p.H605R NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 597 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 TCCCATGTTATGAAATTCCCT 0.303000 9 35 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39234291 39234291 + Missense_Mutation SNP C C A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr2:39234291C>A ENST00000426016.1 - 17 2640 c.2554G>T c.(2554-2556)Gtg>Ttg p.V852L SOS1_ENST00000395038.2_Missense_Mutation_p.V852L|SOS1_ENST00000402219.2_Missense_Mutation_p.V852L Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 852 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) ATTCGACTCACCACAGCTACT 0.328000 Noonan syndrome 7 143 0.27861 0.27861 1 1 0 TULP1 7287 broad.mit.edu 37 6 35478658 35478658 + Missense_Mutation SNP G G A TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr6:35478658G>A ENST00000229771.6 - 5 558 c.479C>T c.(478-480)gCc>gTc p.A160V TULP1_ENST00000322263.4_Missense_Mutation_p.A107V NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 160 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 CTGGGCCTTGGCCCTCCTCTC 0.597000 10 66 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981535 201981536 + Frame_Shift_Ins INS - - C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:201981535_201981536insC ENST00000359651.3 + 3 3641_3642 c.449_450insC c.(448-453)ttccagfs p.Q151fs ELF3_ENST00000367283.3_Frame_Shift_Ins_p.Q151fs|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.Q151fs|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 151 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.M148fs*7(1) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GGCATGGCCTTCCAGGAGGCCC 0.564 24 48 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222435118 222435118 + RNA DEL C C - TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr1:222435118delC ENST00000416510.1 - 0 167 GCAATAATTTCTTTTTTTTTT 0.303 2 4 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)tctdel p.S691del NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 5 3 --- --- --- --- CEP170B 283638 broad.mit.edu 37 14 105352885 105352890 + In_Frame_Del DEL GCAGGA GCAGGA - rs60001925 TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr14:105352885_105352890delGCAGGA ENST00000453495.1 + 12 2540_2545 c.2312_2317delGCAGGA c.(2311-2319)cgcaggagc>cgc p.RS772del CEP170B_ENST00000556508.1_In_Frame_Del_p.RS701del|CEP170B_ENST00000414716.3_In_Frame_Del_p.RS771del|CEP170B_ENST00000418279.1_In_Frame_Del_p.RS701del centrosomal protein 170B GACAGCAGACGCAGGAGCCCCCAGGA 0.694 5 6 --- --- --- --- C17orf70 80233 broad.mit.edu 37 17 79514428 79514429 + Frame_Shift_Ins INS - - CAGGCCGAGTC rs147474907 by1000genomes TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chr17:79514428_79514429insCAGGCCGAGTC ENST00000537152.1 - 5 1751_1752 c.1226_1227insGACTCGGCCTG c.(1225-1227)tgcfs p.C409fs C17orf70_ENST00000327787.8_Frame_Shift_Ins_p.C560fs|C17orf70_ENST00000425898.2_Frame_Shift_Ins_p.C209fs NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 560 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) TGATGGCGGAGCAGGCCGAGTC 0.678 19 60 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44950105 44950106 + Frame_Shift_Ins INS - - T TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 85d9812c-68d6-4bdf-8674-bccf1eb0c8a8 26bda3c7-7369-4096-8905-08248b5bb9f1 g.chrX:44950105_44950106insT ENST00000377967.4 + 26 3915_3916 c.3874_3875insT c.(3874-3876)attfs p.I1292fs KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.I1247fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.I1213fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.I1299fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1292 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTTTGAAATGATTAAGTAAGTC 0.356 """D, N, F, S""" """renal, oesophageal SCC, MM""" 15 96 --- --- --- ---