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 LAMA3 3909 broad.mit.edu 37 18 21484047 21484047 + Missense_Mutation SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr18:21484047G>A uc002kuq.3 + 49 6555 c.6469G>A c.(6469-6471)Gaa>Aaa p.E2157K LAMA3_uc002kur.3_Missense_Mutation_p.E2101K|LAMA3_uc002kus.4_Missense_Mutation_p.E548K|LAMA3_uc002kut.4_Missense_Mutation_p.E492K NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2157 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAGCAGCTGGAAGAGTGAGT 0.567000 52 76 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr4:146059006G>A uc003ika.4 - 20 2864 c.2726C>T c.(2725-2727)aCt>aTt p.T909I NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 4 182 0 0 1 0 0 ROPN1B 152015 broad.mit.edu 37 3 125701153 125701153 + Missense_Mutation SNP C C T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr3:125701153C>T uc003eih.3 + 4 665 c.437C>T c.(436-438)tCa>tTa p.S146L ROPN1B_uc010hsb.3_Missense_Mutation_p.S146L|ROPN1B_uc010hsc.3_Missense_Mutation_p.S54L NM_001012337 NP_001012337 Q9BZX4 ROP1B_HUMAN Homo sapiens rhophilin associated tail protein 1B (ROPN1B), mRNA. 146 Rho protein signal transduction|acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) GAGGTCTTATCATGTGACCAC 0.428000 48 96 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79095498 79095498 + Silent SNP G G T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr1:79095498G>T uc010oro.2 + 3 800 c.621G>T c.(619-621)ggG>ggT p.G207G IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA. 207 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 GTCCAGTTGGGTCTGGAAAGT 0.453000 3 38 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4920917 4920917 + Silent SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr16:4920917A>G uc002cyb.3 + 10 1842 c.1503A>G c.(1501-1503)aaA>aaG p.K501K UBN1_uc010uxw.2_Silent_p.K501K|UBN1_uc002cyc.3_Silent_p.K501K NM_001079514 NP_058632 Q9NPG3 UBN1_HUMAN Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA. 501 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K501K(2) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ATGAAGAAAAAGGGGGCAGGA 0.522000 3 99 0 0 1 0 0 ARID5B 84159 broad.mit.edu 37 10 63852302 63852302 + Missense_Mutation SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr10:63852302A>G uc001jlt.2 + 9 3536 c.3080A>G c.(3079-3081)aAg>aGg p.K1027R ARID5B_uc001jlu.2_Missense_Mutation_p.K784R NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GCAGGGAAAAAGGCCCGGGCA 0.607000 4 171 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137125 126137125 + Missense_Mutation SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr12:126137125A>G uc001uhe.1 + 7 2046 c.2038A>G c.(2038-2040)Agg>Ggg p.R680G TMEM132B_uc001uhf.1_Missense_Mutation_p.R192G NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 680 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCAGACAAAAGGGCCATCGT 0.612000 3 172 0 0 1 0 0 GPX2 2877 broad.mit.edu 37 14 65406325 65406325 + Missense_Mutation SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr14:65406325A>G uc021ruq.1 - 1 541 c.454T>C c.(454-456)Tgg>Cgg p.W152R CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript NM_002083 NP_002074 P18283 GPX2_HUMAN Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA. 152 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity p.W152fs*1(1) large_intestine(2)|ovary(1)|skin(1) 4 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) TCAAAGTTCCAGGCCACATCT 0.562000 3 127 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91730275 91730275 + Missense_Mutation SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr7:91730275A>G uc003ulg.3 + 44 11227 c.11002A>G c.(11002-11004)Agg>Ggg p.R3668G AKAP9_uc003ulf.3_Missense_Mutation_p.R3660G|AKAP9_uc003uli.3_Missense_Mutation_p.R3291G|AKAP9_uc003ulj.3_Missense_Mutation_p.R1438G|AKAP9_uc003ull.3_Missense_Mutation_p.R564G NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 3672 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) ATCTTTGAAAAGGGCAGAGGC 0.393000 T BRAF papillary thyroid 3 121 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158669597 158669597 + Missense_Mutation SNP C C G rs141159720 byFrequency TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr1:158669597C>G uc001fsu.1 - 0 846 c.846G>C c.(844-846)ttG>ttC p.L282F NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) AGAAGGGAGACAAAACTGCAA 0.403000 24 28 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40979879 40979879 + Missense_Mutation SNP C C G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr5:40979879C>G uc003jmh.3 + 16 2332 c.2218C>G c.(2218-2220)Ctg>Gtg p.L740V C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 740 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GATACTGCCTCTGACAGTTTG 0.413000 28 35 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151153024 151153024 + Missense_Mutation SNP G G C TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr6:151153024G>C uc011eem.1 + 14 3042 c.2954G>C c.(2953-2955)gGc>gCc p.G985A PLEKHG1_uc011eel.1_Missense_Mutation_p.G966A|PLEKHG1_uc003qny.1_Missense_Mutation_p.G926A|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G926A NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 926 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TCTAAAGAAGGCTCCTTTATG 0.572000 129 213 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669920 24669920 + Silent SNP T T C TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr10:24669920T>C uc001iru.4 + 2 880 c.477T>C c.(475-477)ccT>ccC p.P159P KIAA1217_uc001irs.3_Silent_p.P79P|KIAA1217_uc001irt.4_Silent_p.P159P|KIAA1217_uc010qcy.2_Silent_p.P159P|KIAA1217_uc010qcz.2_Silent_p.P159P|KIAA1217_uc001irv.1_Silent_p.P9P|KIAA1217_uc010qda.1_Non-coding_Transcript NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 159 embryonic skeletal system development cytoplasm p.P159L(1) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTCCAACCCCTTTTTCCAGAG 0.542000 3 113 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47921639 47921639 + Nonsense_Mutation SNP C C A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr7:47921639C>A uc003tny.2 - 19 3344 c.3310G>T c.(3310-3312)Gag>Tag p.E1104* NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1104 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGGCTCTCCTCGGCACTCAAG 0.527000 3 110 0 0 1 0 0 N6AMT2 221143 broad.mit.edu 37 13 21306248 21306248 + Silent SNP C C G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr13:21306248C>G uc001uno.1 - 3 321 c.240G>C c.(238-240)gtG>gtC p.V80V N6AMT2_uc009zzr.1_Silent_p.V80V|N6AMT2_uc001unp.2_Non-coding_Transcript NM_174928 NP_777588 Q8WVE0 N6MT2_HUMAN Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA. 80 methyltransferase activity|nucleic acid binding endometrium(1)|large_intestine(3)|lung(3) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TAGGGGCACTCACACATGCGA 0.398000 64 119 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150714349 150714349 + Missense_Mutation SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr7:150714349G>A uc011kvc.2 - 8 2139 c.2063C>T c.(2062-2064)gCg>gTg p.A688V ATG9B_uc003wig.4_Non-coding_Transcript NM_173681 NP_775952 Q674R7 ATG9B_HUMAN Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA. 688 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTCTGTCCCGCCGAGAGCCA 0.592000 3 50 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181452990 181452990 + Missense_Mutation SNP C C T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr1:181452990C>T uc009wxt.3 + 0 305 c.110C>T c.(109-111)gCc>gTc p.A37V CACNA1E_uc001gow.3_Missense_Mutation_p.A37V|CACNA1E_uc009wxs.3_Missense_Mutation_p.A37V NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 37 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGGCAGGCGGCCGCCTACAAG 0.652000 4 145 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266387 65266387 + RNA SNP A A G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr11:65266387A>G uc010roh.2 + 0 c.1155A>G Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA. CTAGAAAAGTAAAACTAGAAC 0.393000 31 51 0 0 1 0 0 MSI2 124540 broad.mit.edu 37 17 55752345 55752345 + Missense_Mutation SNP C C T TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr17:55752345C>T uc002iuz.1 + 11 976 c.803C>T c.(802-804)gCg>gTg p.A268V MSI2_uc010wnm.1_Missense_Mutation_p.A264V NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA. 268 cytoplasm RNA binding|nucleotide binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) TCCAACCCGGCGCGGCCCGGA 0.642000 T HOXA9 CML 5 253 0 0 1 0 0 TMEM178 130733 broad.mit.edu 37 2 39934227 39934227 + Missense_Mutation SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr2:39934227G>A uc002rrt.3 + 2 633 c.553G>A c.(553-555)Gta>Ata p.V185I TMEM178_uc021vgg.1_Missense_Mutation_p.V3I|TMEM178_uc010fam.2_Intron NM_152390 NP_689603 Q8NBL3 TM178_HUMAN Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA. 185 integral to membrane endometrium(1)|large_intestine(5)|lung(5) 11 all_hematologic(82;0.248) CGGCATGGCCGTAGCCGTCCT 0.488000 3 75 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44570331 44570331 + Missense_Mutation SNP C C G TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr19:44570331C>G uc002oyf.1 + 4 603 c.350C>G c.(349-351)tCt>tGt p.S117C ZNF284_uc010ejd.2_Non-coding_Transcript NM_013361 NP_037493 Q9UK11 ZN223_HUMAN Homo sapiens zinc finger protein 223 (ZNF223), mRNA. 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) CCTCAAGACTCTACCATAAAG 0.473000 41 50 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94318686 94318686 + Silent SNP G G A TCGA-FE-A3PD-01A-11D-A21Z-08 TCGA-FE-A3PD-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5bdca282-c671-48ff-b32b-2380996016c0 9ee50075-10f8-4945-8391-66c5e87d3333 g.chr11:94318686G>A uc001pfa.3 + 5 922 c.711G>A c.(709-711)caG>caA p.Q237Q PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA. 237 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AAATTCCCCAGCACAAGTAGG 0.328000 4 191 0 0 1 0 0