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 PIM2 11040 broad.mit.edu 37 X 48772508 48772508 + Silent SNP A A G TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chrX:48772508A>G uc004dls.3 - 3 686 c.384T>C c.(382-384)taT>taC p.Y128Y NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN Homo sapiens pim-2 oncogene (PIM2), mRNA. 128 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 TCTCTGTGATATAGTCAAAGA 0.597000 3 64 0 0 1 0 0 ZNF500 26048 broad.mit.edu 37 16 4810510 4810510 + Missense_Mutation SNP G G A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr16:4810510G>A uc002cxp.1 - 4 990 c.743C>T c.(742-744)gCg>gTg p.A248V ZNF500_uc002cxo.1_Missense_Mutation_p.A40V|ZNF500_uc010uxt.1_Missense_Mutation_p.A248V NM_021646 NP_067678 O60304 ZN500_HUMAN Homo sapiens zinc finger protein 500 (ZNF500), mRNA. 248 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 21 CTCCAGCGGCGCGTCCCGCTG 0.577000 26 106 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48391978 48391978 + Missense_Mutation SNP T T C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr12:48391978T>C uc001rqu.3 - 3 497 c.316A>G c.(316-318)Aaa>Gaa p.K106E COL2A1_uc001rqv.3_Missense_Mutation_p.K37E NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 106 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGTTCTCCTTTCTGTCCCTGA 0.483000 6 105 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828959 115828959 + Missense_Mutation SNP T T C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:115828959T>C uc001efu.1 - 2 627 c.458A>G c.(457-459)aAg>aGg p.K153R NGF_uc021osd.1_Missense_Mutation_p.K153R NM_002506 NP_002497 P01138 NGF_HUMAN Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA. 153 Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling Golgi lumen|endosome growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CTCCTTGCCCTTGATGTCTGT 0.517000 5 150 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281566 281566 + Missense_Mutation SNP A A G TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr11:281566A>G uc010qvs.2 + 3 1832 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_uc010qvt.2_Missense_Mutation_p.E611G NM_138329 NP_612202 P59044 NALP6_HUMAN Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA. 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGGAGGAGGAGGGAGAGGAG 0.662000 4 182 0 0 1 0 0 RMND1 55005 broad.mit.edu 37 6 151757610 151757610 + Missense_Mutation SNP C C T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr6:151757610C>T uc003qoi.2 - 2 764 c.584G>A c.(583-585)gGa>gAa p.G195E RMND1_uc011eeq.1_5'UTR|RMND1_uc003qoj.3_Missense_Mutation_p.G195E|RMND1_uc011eer.1_Missense_Mutation_p.G195E NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA. 195 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) TTCAACATATCCGTGGGAGGC 0.423000 17 110 0 0 1 0 0 AGPS 8540 broad.mit.edu 37 2 178378622 178378622 + Silent SNP T T C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr2:178378622T>C uc002ull.2 + 16 1730 c.1683T>C c.(1681-1683)ccT>ccC p.P561P AGPS_uc010zfb.1_Silent_p.P471P NM_003659 NP_003650 O00116 ADAS_HUMAN Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA. 561 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) AGTTTGCTCCTTTTTCTACAT 0.303000 3 93 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 6893216 6893216 + Missense_Mutation SNP G G A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr9:6893216G>A uc003zkh.3 + 7 1485 c.905G>A c.(904-906)gGa>gAa p.G302E KDM4C_uc010mhu.2_Missense_Mutation_p.G324E|KDM4C_uc010mhw.3_Missense_Mutation_p.G302E|KDM4C_uc011lmi.1_Missense_Mutation_p.G302E|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Missense_Mutation_p.G302E|KDM4C_uc011lmk.2_Missense_Mutation_p.G121E NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA. 302 JmjC. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 ATTGACTATGGAAAAGTTGCC 0.363000 5 121 0 0 1 0 0 TPPP2 122664 broad.mit.edu 37 14 21500190 21500190 + Missense_Mutation SNP T T C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr14:21500190T>C uc001vzh.3 + 3 655 c.467T>C c.(466-468)gTg>gCg p.V156A NDRG2_uc010tll.2_Intron NM_173846 NP_776245 P59282 TPPP2_HUMAN Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA. 156 cytoplasm endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ACAGGCTATGTGAGTGGTTAC 0.542000 4 112 0 0 1 0 0 TUBB2B 347733 broad.mit.edu 37 6 3226415 3226415 + Missense_Mutation SNP G G C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr6:3226415G>C uc003mvg.3 - 2 446 c.255C>G c.(253-255)ttC>ttG p.F85L AK096219_uc003mvi.1_5'Flank NM_178012 NP_821080 Q9BVA1 TBB2B_HUMAN Homo sapiens tubulin, beta 2B class IIb (TUBB2B), mRNA. 85 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1) 10 Ovarian(93;0.0386) all_hematologic(90;0.108) TGTCTGGTCTGAAGATCTGGC 0.527000 48 54 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 31082524 31082524 + Missense_Mutation SNP A A T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr17:31082524A>T uc002hho.1 - 10 1465 c.1453T>A c.(1453-1455)Ttt>Att p.F485I MYO1D_uc002hhp.1_Missense_Mutation_p.F485I NM_015194 NP_056009 O94832 MYO1D_HUMAN Homo sapiens myosin ID (MYO1D), mRNA. 485 Myosin head-like. myosin complex ATP binding|actin binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) CGGCTGGAAAAATGGGCGTGT 0.398000 11 105 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799959 159799959 + Missense_Mutation SNP A A T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:159799959A>T uc001fue.4 + 1 554 c.344A>T c.(343-345)cAg>cTg p.Q115L NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN Homo sapiens SLAM family member 8 (SLAMF8), mRNA. 115 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) CCCTGGACCCAGACCCTCCAG 0.617000 19 26 0 0 1 0 0 TNNT2 7139 broad.mit.edu 37 1 201333480 201333480 + Silent SNP G G A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:201333480G>A uc001gwf.3 - 10 504 c.435C>T c.(433-435)gcC>gcT p.A145A TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Silent_p.A135A|TNNT2_uc001gwg.3_Silent_p.A135A|TNNT2_uc001gwh.3_Silent_p.A126A|TNNT2_uc001gwi.3_Silent_p.A105A|TNNT2_uc009wzr.3_Silent_p.A76A|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.A110A|TNNT2_uc001gwk.1_Silent_p.A76A|TNNT2_uc009wzt.1_Silent_p.A135A NM_000364 NP_000355 P45379 TNNT2_HUMAN Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA. 145 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9) 20 GCTGCTGCTCGGCCCGCTCTG 0.642000 3 54 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49765500 49765500 + Missense_Mutation SNP C C A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr13:49765500C>A uc001vcm.3 + 18 2511 c.2206C>A c.(2206-2208)Cgt>Agt p.R736S FNDC3A_uc001vcn.3_Missense_Mutation_p.R736S|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.R680S NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA. 736 Fibronectin type-III 5. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CTTCAGACTACGTGCAGCTAA 0.363000 3 100 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91711855 91711855 + Missense_Mutation SNP A A G TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr7:91711855A>G uc003ulg.3 + 31 8264 c.8039A>G c.(8038-8040)cAt>cGt p.H2680R AKAP9_uc003ulf.3_Missense_Mutation_p.H2672R|AKAP9_uc003uli.3_Missense_Mutation_p.H2303R|AKAP9_uc003ulj.3_Missense_Mutation_p.H450R|AKAP9_uc003ulk.3_5'Flank NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2692 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAGCTATTTCATAGCAATGAA 0.338000 T BRAF papillary thyroid 3 84 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128360384 128360384 + Missense_Mutation SNP G G C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr11:128360384G>C uc001qej.2 - 3 387 c.302C>G c.(301-303)aCt>aGt p.T101S ETS1_uc010sbs.1_Missense_Mutation_p.T57S|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.T57S NM_001143820 NP_001137292 P14921 ETS1_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA. 57 PNT. PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.N101N(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) CTGTTCTTTAGTGAAACCACT 0.413000 8 110 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10930718 10930718 + Silent SNP C C T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr19:10930718C>T uc002mpt.2 + 15 1924 c.1734C>T c.(1732-1734)ggC>ggT p.G578G DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.G578G|DNM2_uc010dxl.2_Silent_p.G578G|DNM2_uc002mpu.2_Silent_p.G574G|DNM2_uc002mpv.2_Silent_p.G574G|DNM2_uc002mpw.3_Silent_p.G307G|MIR199A1_uc010xlj.1_5'Flank NM_001005360 NP_001005360 P50570 DYN2_HUMAN Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA. 578 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TGGAGAAGGGCTTCATGTCCA 0.572000 """F, N, Splice, Mis, O""" ETP ALL 20 161 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151501902 151501902 + Missense_Mutation SNP G G A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:151501902G>A uc009wmw.3 + 10 2117 c.1973G>A c.(1972-1974)cGg>cAg p.R658Q NM_020770 NP_065821 Q9P2M7 CING_HUMAN Homo sapiens cingulin (CGN), mRNA. 652 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGGCGACACCGGGACCGGGAG 0.612000 3 76 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62598711 62598711 + Missense_Mutation SNP G G T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr4:62598711G>T uc010ihh.3 + 4 807 c.634G>T c.(634-636)Gta>Tta p.V212L LPHN3_uc003hcq.4_Missense_Mutation_p.V212L|LPHN3_uc010ihg.1_Missense_Mutation_p.V280L|LPHN3_uc003hcs.1_Missense_Mutation_p.V41L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 212 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CACAGGATTTGTAGTGTATGA 0.448000 4 47 0 0 1 0 0 SYDE1 85360 broad.mit.edu 37 19 15224522 15224522 + Silent SNP C C T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr19:15224522C>T uc002nah.1 + 7 1987 c.1956C>T c.(1954-1956)gcC>gcT p.A652A SYDE1_uc002nai.1_Silent_p.A585A|SYDE1_uc002naj.1_Silent_p.A309A NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA. 652 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 ACCGCTACGCCGGCGACTGGA 0.697000 5 108 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43922526 43922526 + Missense_Mutation SNP C C A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr19:43922526C>A uc002owk.3 + 8 1342 c.781C>A c.(781-783)Cca>Aca p.P261T TEX101_uc010xwo.2_Missense_Mutation_p.P243T NM_031451 NP_001123483 Q9BY14 TX101_HUMAN Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA. 243 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) ATTGCTGCTGCCATCATTTAT 0.498000 19 103 0 0 1 0 0 LOC146880 146880 broad.mit.edu 37 17 62750766 62750766 + RNA SNP C C A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr17:62750766C>A uc010wqc.2 - 8 c.1848G>T Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA. GCTCTTAGGGCAGGAGTCTGA 0.443000 53 90 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Splice_Site SNP G G A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr3:178917478G>A uc003fjk.3 + 3 510 c.353_splice c.e3-1 p.G118_splice NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 118 T cell costimulation|T cell receptor signaling pathway|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 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(26) 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) TTTATTAAAGGTTTTGCTATC 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 11 79 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3552584 3552584 + Missense_Mutation SNP G G A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:3552584G>A uc001ako.3 - 5 635 c.527C>T c.(526-528)aCg>aTg p.T176M WRAP73_uc001akn.3_Missense_Mutation_p.T176M|WRAP73_uc010nzi.2_3'UTR NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA. 176 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 CTGGGTGTCCGTATCAAAATG 0.443000 3 78 0 0 1 0 0 FNBP1L 54874 broad.mit.edu 37 1 93965084 93965084 + Silent SNP T T C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:93965084T>C uc010otk.2 + 1 235 c.84T>C c.(82-84)taT>taC p.Y28Y FNBP1L_uc001dpv.3_Silent_p.Y28Y|FNBP1L_uc001dpw.3_Silent_p.Y28Y NM_001164473 NP_001157945 Q5T0N5 FBP1L_HUMAN Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA. 28 FCH.|Induction of membrane tubulation (By similarity). endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) TGGAAAGATATGCCAAATTTG 0.308000 5 21 0 0 1 0 0 ARL3 403 broad.mit.edu 37 10 104465155 104465155 + Missense_Mutation SNP G G A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr10:104465155G>A uc001kwa.3 - 1 253 c.95C>T c.(94-96)aCt>aTt p.T32I NM_004311 NP_004302 P36405 ARL3_HUMAN Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA. 32 cell cycle|cytokinesis|small GTPase mediated signal transduction Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule GDP binding|GTP binding|metal ion binding|microtubule binding large_intestine(2) 2 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) CTTCAGAAGAGTGGTCTTGCC 0.502000 5 108 0 0 1 0 0 DAP3 7818 broad.mit.edu 37 1 155701824 155701824 + Splice_Site SNP G G T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:155701824G>T uc001fls.3 + 12 1177 c.993_splice c.e12+1 p.K331_splice GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Splice_Site_p.K290_splice|DAP3_uc010pgm.2_Splice_Site_p.K297_splice|DAP3_uc001flr.3_Splice_Site_p.K331_splice|DAP3_uc001flq.3_Splice_Site_p.K331_splice NM_001199849 NP_001186778 P51398 RT29_HUMAN Homo sapiens death associated protein 3 (DAP3), transcript variant 3, mRNA. 331 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TGCTGGGAAAGGTCAAGTCAA 0.388000 3 29 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815856 179815856 + Missense_Mutation SNP A A G TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:179815856A>G uc001gnl.3 - 6 1577 c.763T>C c.(763-765)Ttt>Ctt p.F255L TOR1AIP2_uc001gnk.3_Missense_Mutation_p.F255L NM_001199260 NP_001186189 Q8NFQ8 TOIP2_HUMAN Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA. 255 endoplasmic reticulum membrane|integral to membrane protein binding p.A254V(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 TGGGCCAAAAAGGCCTCCAAA 0.493000 3 130 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50944246 50944246 + Missense_Mutation SNP A A G TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr19:50944246A>G uc002psf.2 + 7 733 c.682A>G c.(682-684)Aaa>Gaa p.K228E NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 228 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CGAGTACGAGAAAATCGCCTT 0.542000 5 27 0 0 1 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45687540 45687540 + Silent SNP T T C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr14:45687540T>C uc001wwf.3 - 11 3246 c.2787A>G c.(2785-2787)aaA>aaG p.K929K NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA. 929 SANT. CenH3-containing nucleosome assembly at centromere|cell division|mitosis chromosome, centromeric region|nucleoplasm DNA binding p.K929K(2) 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 TCTGGGATCCTTTTCCTCTGG 0.438000 3 172 0 0 1 0 0 TROVE2 6738 broad.mit.edu 37 1 193038712 193038712 + Silent SNP C C T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:193038712C>T uc001gss.3 + 1 904 c.528C>T c.(526-528)ggC>ggT p.G176G TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Silent_p.G176G|TROVE2_uc009wyp.3_Silent_p.G176G|TROVE2_uc001gsw.3_Silent_p.G176G|TROVE2_uc009wyq.3_Silent_p.G176G|TROVE2_uc001gsx.2_Silent_p.G176G NM_001173524 NP_004591 P10155 RO60_HUMAN Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA. 176 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex RNA binding|protein binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 AGAGAAATGGCTGGTCTCACA 0.453000 3 100 0 0 1 0 0 MST1P2 11209 broad.mit.edu 37 1 16976147 16976147 + RNA SNP T T G TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:16976147T>G uc010och.2 + 11 c.2088T>G MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GCCTGCCGCCTGAATGATATG 0.592000 5 213 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798723 55798723 + Missense_Mutation SNP T T C TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr11:55798723T>C uc010riw.2 + 0 829 c.829T>C c.(829-831)Ttt>Ctt p.F277L NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA. 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F277Y(1) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GGTGGCAGTGTTTTATACTGT 0.378000 36 43 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64457230 64457230 + Silent SNP A A G TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr14:64457230A>G uc001xgl.3 + 19 2645 c.2415A>G c.(2413-2415)caA>caG p.Q805Q SYNE2_uc001xgm.3_Silent_p.Q805Q|SYNE2_uc021ruh.1_Silent_p.Q805Q NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 805 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGTCCTTTCAACATGTTCTCA 0.358000 7 169 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 55 67 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50780088 50780088 + Missense_Mutation SNP G G T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr2:50780088G>T uc021vhg.1 - 8 2437 c.1516C>A c.(1516-1518)Cat>Aat p.H506N NRXN1_uc002rxb.4_Missense_Mutation_p.H138N|NRXN1_uc021vhh.1_Missense_Mutation_p.H466N|NRXN1_uc021vhi.1_Missense_Mutation_p.H502N|NRXN1_uc021vhj.1_Missense_Mutation_p.H462N|NRXN1_uc002rxc.1_Non-coding_Transcript NM_001135659 NP_001129131 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA. 466 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACCACTCCATGGATCTTCATC 0.413000 4 156 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281678 71281678 + Missense_Mutation SNP C C T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr17:71281678C>T uc002jjn.3 - 1 1109 c.962G>A c.(961-963)cGc>cAc p.R321H CDC42EP4_uc002jjo.3_Missense_Mutation_p.R321H|CDC42EP4_uc002jjp.1_Missense_Mutation_p.R251H|CDC42EP4_uc021ucn.1_Missense_Mutation_p.R321H NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA. 321 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GGCAGGGCTGCGCTCCTCCAG 0.672000 3 83 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261647 21261647 + Missense_Mutation SNP G G A TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr16:21261647G>A uc010bwp.1 + 1 803 c.760G>A c.(760-762)Gca>Aca p.A254T CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA. 254 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) CCAGTTGTCAGCAGAGGAGGA 0.488000 3 102 0 0 1 0 0 PPP1R8 5511 broad.mit.edu 37 1 28176693 28176693 + Silent SNP C C T TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr1:28176693C>T uc001bov.2 + 6 887 c.792C>T c.(790-792)taC>taT p.Y264Y PPP1R8_uc009vtd.2_Silent_p.Y40Y|PPP1R8_uc001bow.2_Silent_p.Y122Y|PPP1R8_uc001box.2_Silent_p.Y40Y|PPP1R8_uc021ojy.1_Silent_p.Y122Y NM_014110 NP_612568 Q12972 PP1R8_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 8 (PPP1R8), transcript variant 1, mRNA. 264 RNA catabolic process|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|RNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) GAGGACTCTACGGGGGCCTGC 0.617000 19 180 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134618477 134618477 + Frame_Shift_Del DEL G G - TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr7:134618477delG uc003vrz.3 + 4 1423 c.957delG c.(955-957)gagfs p.E319fs CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Frame_Shift_Del_p.E183fs NM_033138 NP_149129 Q05682 CALD1_HUMAN Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA. 319 3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K. cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 ggatgagggaggaagagaaaa 0.488 2 4 --- --- --- --- CPEB3 22849 broad.mit.edu 37 10 94000047 94000049 + In_Frame_Del DEL GCT GCT - TCGA-FE-A3PC-01A-11D-A21Z-08 TCGA-FE-A3PC-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42164290-bbcb-4fc1-8395-a6428bda6fec 962bb1b7-286c-4ba2-a483-8bf34a6ef952 g.chr10:94000047_94000049delGCT uc001khu.2 - 0 70_72 c.59_61delAGC c.(58-63)cagcgg>cgg p.Q20del CPEB3_uc001khv.2_In_Frame_Del_p.Q20del|CPEB3_uc001khw.2_In_Frame_Del_p.Q20del|CPEB3_uc010qnn.2_In_Frame_Del_p.Q20del NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA. 20 Gln-rich. RNA binding|nucleotide binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) tgctgctgccgctgctgctgctg 0.591 2 4 --- --- --- ---