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 PRAMEF11 440560 broad.mit.edu 37 1 12887550 12887550 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr1:12887550C>T ENST00000535591.1 - 3 502 c.307G>A c.(307-309)Gaa>Aaa p.E103K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 103 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCTGCCGTTCTCTCATCCTT 0.502 66 244 --- --- --- --- GBP4 115361 broad.mit.edu 37 1 89652043 89652043 + Missense_Mutation SNP A A T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr1:89652043A>T ENST00000355754.6 - 10 1777 c.1680T>A c.(1678-1680)caT>caA p.H560Q NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 560 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GCAGCCTTTCATGCTCTCTGA 0.478 19 78 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 186136032 186136032 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr1:186136032G>A ENST00000271588.4 + 100 15761 c.15532G>A c.(15532-15534)Gga>Aga p.G5178R HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5178 EGF-like 2; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGTCCGTTGTGGAAGTGGCTT 0.453 17 57 --- --- --- --- ALPI 248 broad.mit.edu 37 2 233323610 233323610 + Silent SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr2:233323610G>A ENST00000295463.3 + 11 1418 c.1341G>A c.(1339-1341)tcG>tcA p.S447S NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 447 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGCCCCTGTCGTCCGAGACCC 0.692 4 15 --- --- --- --- UGT2B28 54490 broad.mit.edu 37 4 70146412 70146412 + Missense_Mutation SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr4:70146412A>G ENST00000335568.5 + 1 196 c.194A>G c.(193-195)gAt>gGt p.D65G UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 65 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATTCTTTTTGATCCCAATGAC 0.383 2 4 --- --- --- --- TRPC3 7222 broad.mit.edu 37 4 122824123 122824123 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr4:122824123C>A ENST00000264811.5 - 8 2546 c.2128G>T c.(2128-2130)Gtt>Ttt p.V710F TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F|TRPC3_ENST00000379645.3_Missense_Mutation_p.V783F NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 698 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GGACTAGGAACTAGACTGAAA 0.378 13 56 --- --- --- --- OFCC1 266553 broad.mit.edu 37 6 9908812 9908812 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr6:9908812A>G ENST00000316020.6 - 5 485 c.486T>C c.(484-486)ttT>ttC p.F162F OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) TCAGTGGGTCAAAGTAATTTC 0.393 22 69 --- --- --- --- VARS2 57176 broad.mit.edu 37 6 30884980 30884980 + Missense_Mutation SNP A A T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr6:30884980A>T ENST00000321897.5 + 8 1484 c.852A>T c.(850-852)agA>agT p.R284S VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 284 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 GTGCTTTAAGATCAGCCATCT 0.537 46 96 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113308118 113308118 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr8:113308118G>A ENST00000297405.5 - 54 8802 c.8558C>T c.(8557-8559)tCa>tTa p.S2853L CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2853 Sushi 18. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATCCTCACTGAAGAACCAAT 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 21 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49432198 49432198 + Missense_Mutation SNP G G C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr12:49432198G>C ENST00000301067.7 - 34 8940 c.8941C>G c.(8941-8943)Ctg>Gtg p.L2981V NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCAGCTTCCAGGGCCAGAGGA 0.602 4 61 --- --- --- --- HOXC4 3221 broad.mit.edu 37 12 54448666 54448666 + Missense_Mutation SNP C C T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr12:54448666C>T ENST00000430889.2 + 2 518 c.472C>T c.(472-474)Cgc>Tgc p.R158C HOXC4_ENST00000609810.1_Missense_Mutation_p.R158C|HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 158 R -> L (in dbSNP:rs11835301). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 GGAACCCAAGCGCTCGAGGAC 0.577 5 32 --- --- --- --- THSD4 79875 broad.mit.edu 37 15 71535425 71535425 + Missense_Mutation SNP G G T TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr15:71535425G>T ENST00000355327.3 + 5 1036 c.902G>T c.(901-903)tGc>tTc p.C301F THSD4_ENST00000261862.6_Missense_Mutation_p.C301F Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 301 TSP type-1 1. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TACAAGCTGTGCAACACCAAC 0.542 10 39 --- --- --- --- ZFPM1 161882 broad.mit.edu 37 16 88598619 88598619 + Missense_Mutation SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr16:88598619G>A ENST00000319555.3 + 7 1244 c.922G>A c.(922-924)Gag>Aag p.E308K NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 308 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) CAGCTCCCTGGAGATCCACAT 0.706 12 31 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696425 47696425 + Missense_Mutation SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr17:47696425A>G ENST00000393331.3 - 7 868 c.398T>C c.(397-399)tTc>tCc p.F133S SPOP_ENST00000503676.1_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S|SPOP_ENST00000393328.2_Missense_Mutation_p.F133S|SPOP_ENST00000504102.1_Missense_Mutation_p.F133S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133C(3)|p.F133S(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GAATTTCTTGAATCCCCAGTC 0.448 Prostate(2;0.17) 43 95 --- --- --- --- APPBP2 10513 broad.mit.edu 37 17 58529353 58529353 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr17:58529353A>G ENST00000083182.3 - 12 1679 c.1392T>C c.(1390-1392)ggT>ggC p.G464G NM_001282476.1|NM_006380.2 NP_001269405.1|NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 464 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) AATCTTCTTGACCAAGAAGTT 0.323 4 61 --- --- --- --- TANC2 26115 broad.mit.edu 37 17 61432335 61432335 + Silent SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr17:61432335C>A ENST00000424789.2 + 12 1948 c.1944C>A c.(1942-1944)acC>acA p.T648T TANC2_ENST00000389520.4_Silent_p.T648T NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 648 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ATCTCAAGACCCTCAGTCAAG 0.398 33 110 --- --- --- --- ZNF559 84527 broad.mit.edu 37 19 9453237 9453237 + Silent SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:9453237A>G ENST00000393883.2 + 6 1758 c.1110A>G c.(1108-1110)gtA>gtG p.V370V ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000605471.1_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 ATCTTACTGTACATATGAGAA 0.388 4 44 --- --- --- --- ZNF799 90576 broad.mit.edu 37 19 12501393 12501393 + Missense_Mutation SNP T T C TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:12501393T>C ENST00000419318.1 - 4 2472 c.1723A>G c.(1723-1725)Aaa>Gaa p.K575E ZNF799_ENST00000430385.3_Missense_Mutation_p.K607E|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 607 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TGAGTCTTTTTATGTCTATGC 0.398 31 91 --- --- --- --- MYO9B 4650 broad.mit.edu 37 19 17311626 17311626 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:17311626C>A ENST00000595618.1 + 26 4703 c.4551C>A c.(4549-4551)ttC>ttA p.F1517L MYO9B_ENST00000594824.1_Missense_Mutation_p.F1517L|MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1517 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 TGGACGAGTTCCTGCTCAACA 0.552 20 53 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47570989 47570989 + Missense_Mutation SNP C C A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr19:47570989C>A ENST00000253048.5 - 15 2573 c.2536G>T c.(2536-2538)Gac>Tac p.D846Y ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 846 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AGGCGGGGGTCCCCCAGCCCA 0.682 6 13 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30416351 30416351 + Silent SNP G G A TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr22:30416351G>A ENST00000333027.3 + 17 3031 c.2703G>A c.(2701-2703)agG>agA p.R901R CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.R901R|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Silent_p.R901R|MTMR3_ENST00000323630.5_Silent_p.R765R|MTMR3_ENST00000406629.1_Silent_p.R901R NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 901 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGTGCATAGGACTTCCCTTG 0.562 17 51 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39907713 39907717 + Frame_Shift_Del DEL AAATG AAATG - TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr1:39907713_39907717delAAATG ENST00000564288.1 + 75 19539_19543 c.18762_18766delAAATG c.(18760-18768)ttaaatgaafs p.NE6255fs MACF1_ENST00000372915.3_Frame_Shift_Del_p.NE6154fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.NE4066fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.NE6292fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.NE4196fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.NE4698fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.NE4196fs Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6264 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) 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) AAGATCAGTTAAATGAAATGAAGGT 0.356 14 64 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98205472 98205473 + Frame_Shift_Ins INS - - AT TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3dfed002-b5bd-4fb8-abad-1fcd74db1b68 dc7c3b1b-f5f0-414c-8b07-2338277264c3 g.chr5:98205472_98205473insAT ENST00000284049.3 - 29 4241_4242 c.4092_4093insAT c.(4090-4095)gatgaafs p.E1365fs CHD1_ENST00000511067.1_5'UTR NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1365 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCATCATCTTCATCAGACTTCT 0.317 18 22 --- --- --- ---