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 KIAA1586 57691 broad.mit.edu 37 6 56917924 56917924 + Silent SNP A A G TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr6:56917924A>G ENST00000370733.4 + 4 834 c.627A>G c.(625-627)gaA>gaG p.E209E KIAA1586_ENST00000545356.1_Silent_p.E182E NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 209 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAATTAGGGAACATGATGTTT 0.313000 16 41 0 0 1 0 0 U66061.31 0 broad.mit.edu 37 7 142423623 142423623 + RNA SNP C C T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr7:142423623C>T ENST00000506718.1 + 0 631 TRBV27_ENST00000390399.3_RNA AGAGGAATTTCCCCCTGATCC 0.498000 7 32 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6496041 6496041 + Missense_Mutation SNP C C T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr19:6496041C>T ENST00000264071.2 - 4 840 c.469G>A c.(469-471)Gag>Aag p.E157K TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.E157K P04350 TBB4_HUMAN tubulin, beta 4A class IVa 157 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity GGGAACTCCTCGCGGATCTTA 0.637000 17 89 0 0 1 0 0 CYSLTR1 0 broad.mit.edu 37 X 77529210 77529210 + Missense_Mutation SNP C C A TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chrX:77529210C>A ENST00000373304.3 - 3 326 c.34G>T c.(34-36)Gcc>Tcc p.A12S NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 12 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) TGGCATGTGGCAGAAGATACT 0.378000 4 73 0.00909568 0.00935556 1 1 0 S100Z 170591 broad.mit.edu 37 5 76171233 76171233 + Missense_Mutation SNP C C T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr5:76171233C>T ENST00000317593.4 + 3 281 c.49C>T c.(49-51)Cac>Tac p.H17Y S100Z_ENST00000513010.1_Missense_Mutation_p.H17Y NM_130772.3 NP_570128.2 Q8WXG8 S100Z_HUMAN S100 calcium binding protein Z 17 EF-hand 1. calcium ion binding large_intestine(1)|ovary(1) 2 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40) TAGAATCTTCCACCGCTATTC 0.552000 3 30 0 0 1 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951159 30951159 + Silent SNP G G A TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr22:30951159G>A ENST00000402321.1 - 3 1370 c.1053C>T c.(1051-1053)gcC>gcT p.A351A GAL3ST1_ENST00000406955.1_Silent_p.A351A|GAL3ST1_ENST00000401975.1_Silent_p.A351A|GAL3ST1_ENST00000443111.2_Silent_p.A351A|GAL3ST1_ENST00000338911.5_Silent_p.A351A|GAL3ST1_ENST00000402369.1_Silent_p.A351A|GAL3ST1_ENST00000406361.1_Silent_p.A351A Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 351 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CGGCGTCCACGGCGTGGCCCC 0.706000 6 34 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167871270 167871270 + Silent SNP G G A TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr1:167871270G>A ENST00000367851.4 - 4 460 c.276C>T c.(274-276)gaC>gaT p.D92D ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367848.1_5'UTR NM_018417.4 NP_060887.2 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 92 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ATTTCAGGATGTCTCCTCCAA 0.393000 40 205 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 5 232 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149642057 149642057 + Missense_Mutation SNP G G A TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chrX:149642057G>A ENST00000370401.2 + 5 2333 c.2023G>A c.(2023-2025)Gtg>Atg p.V675M MAMLD1_ENST00000426613.2_Missense_Mutation_p.V650M|MAMLD1_ENST00000455522.2_Intron|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V675M Q13495 MAMD1_HUMAN mastermind-like domain containing 1 675 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GCCTGGAGACGTGTCACCGTC 0.488000 25 49 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T T A TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr1:91967356T>A ENST00000428239.1 + 2 342 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28* NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAAC 0.403000 4 104 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 49 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36064859 36064859 + Missense_Mutation SNP T T C TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr14:36064859T>C ENST00000258840.6 - 37 6203 c.5813A>G c.(5812-5814)gAt>gGt p.D1938G RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1891G Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1891 Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP. activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAAGAATCATCAGAATCAGA 0.338000 20 104 0 0 1 0 0 SLC25A51 92014 broad.mit.edu 37 9 37888547 37888547 + Translation_Start_Site SNP T T C TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr9:37888547T>C ENST00000377716.2 - 3 744 c.1A>G c.(1-3)Atg>Gtg p.M1V RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000380590.3_Start_Codon_SNP_p.M1V|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Start_Codon_SNP_p.M1V Q9H1U9 MCAR1_HUMAN solute carrier family 25, member 51 1 transport integral to membrane|mitochondrial inner membrane GAATCCATCATGCTGCTTAAG 0.348000 26 90 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701990 96701990 + Missense_Mutation SNP C C T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr10:96701990C>T ENST00000260682.6 + 3 385 c.373C>T c.(373-375)Cgt>Tgt p.R125C CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 125 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GGAGATCCGGCGTTTCTCCCT 0.502000 22 123 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47889987 47889987 + Missense_Mutation SNP A A T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr3:47889987A>T ENST00000446256.2 + 17 2977 c.2405A>T c.(2404-2406)gAc>gTc p.D802V DHX30_ENST00000348968.4_Missense_Mutation_p.D813V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V|DHX30_ENST00000445061.1_Missense_Mutation_p.D841V NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 841 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AAGGCTGTGGACAGTCCAAAC 0.657000 18 95 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140207846 140207846 + Missense_Mutation SNP C C T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr5:140207846C>T ENST00000529310.1 + 1 284 c.170C>T c.(169-171)gCg>gTg p.A57V PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A57V|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAGCTGGCGGAGCTGGTG 0.617000 6 104 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50920444 50920444 + Missense_Mutation SNP T T C TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr15:50920444T>C ENST00000313478.7 - 11 1488 c.1207A>G c.(1207-1209)Act>Gct p.T403A TRPM7_ENST00000560955.1_Missense_Mutation_p.T403A NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 403 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GATGCATTAGTACCTAATCGA 0.353000 19 123 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110768696 110768696 + Missense_Mutation SNP G G A TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr1:110768696G>A ENST00000369787.3 + 3 1742 c.1715G>A c.(1714-1716)cGg>cAg p.R572Q KCNC4_ENST00000413138.3_Missense_Mutation_p.R572Q|KCNC4_ENST00000438661.2_Missense_Mutation_p.R572Q|KCNC4_ENST00000412512.2_Intron NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 572 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGGAGCGCCGGGCCCTGCGA 0.647000 6 50 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145843226 145843226 + Silent SNP G G A TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr5:145843226G>A ENST00000296702.5 + 5 1043 c.1005G>A c.(1003-1005)ccG>ccA p.P335P TCERG1_ENST00000394421.2_Silent_p.P335P NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 335 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCCCAGCCGCACCCTCAGA 0.517000 4 131 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 50 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr20:46279833G>A ENST00000372004.3 + 20 3963 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1253 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcaacagcagc 0.547000 4 62 0 0 1 0 0 ADTRP 84830 broad.mit.edu 37 6 11714718 11714718 + Missense_Mutation SNP C C T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr6:11714718C>T ENST00000414691.3 - 6 1096 c.686G>A c.(685-687)aGg>aAg p.R229K ADTRP_ENST00000229583.5_Missense_Mutation_p.R247K|ADTRP_ENST00000514824.1_5'UTR NM_032744.3 NP_116133.1 Q96IZ2 CF105_HUMAN androgen-dependent TFPI-regulating protein 229 integral to membrane CAATTACTTCCTCTTCTTCCG 0.428000 3 63 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269662 1269662 + Missense_Mutation SNP C C T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr11:1269662C>T ENST00000447027.1 + 31 11619 c.11561C>T c.(11560-11562)gCc>gTc p.A3854V MUC5B_ENST00000529681.1_Missense_Mutation_p.A3851V|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3851 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGCTCTGTGGCCACCCCCTCT 0.637000 4 93 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081869 152081869 + Missense_Mutation SNP T T G TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr1:152081869T>G ENST00000368804.1 - 2 3823 c.3824A>C c.(3823-3825)cAa>cCa p.Q1275P NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1275 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCTCGCTCTTGCTGTTCACC 0.557000 4 74 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38164595 38164595 + Missense_Mutation SNP C C T TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr13:38164595C>T ENST00000379747.4 - 4 472 c.355G>A c.(355-357)Gcc>Acc p.A119T POSTN_ENST00000541179.1_Missense_Mutation_p.A119T|POSTN_ENST00000379742.4_Missense_Mutation_p.A119T|POSTN_ENST00000541481.1_Missense_Mutation_p.A119T|POSTN_ENST00000379743.4_Missense_Mutation_p.A119T|POSTN_ENST00000379749.4_Missense_Mutation_p.A119T NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 119 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding p.A119T(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AGTTTTGAGGCGTCAGAATAG 0.453000 6 19 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 7 256 --- --- --- --- OR2T7 81458 broad.mit.edu 37 1 248604929 248604930 + Frame_Shift_Ins INS - - G TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr1:248604929_248604930insG ENST00000460972.3 + 1 422_423 c.422_423insG c.(421-423)cggfs p.R141fs olfactory receptor, family 2, subfamily T, member 7 GCAGCCTGGCTGGGAGGGTCTA 0.579 4 7 --- --- --- --- WNT6 7475 broad.mit.edu 37 2 219724790 219724792 + In_Frame_Del DEL GCT GCT - TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr2:219724790_219724792delGCT ENST00000233948.3 + 1 247_249 c.30_32delGCT c.(28-33)ggg>gg p.GL10del WNT6_ENST00000486233.1_3'UTR NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 10 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.L17delL(1) large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCGCCTCGGGCTGCTGCTGCTG 0.773 2 4 --- --- --- --- MXD4 10608 broad.mit.edu 37 4 2263671 2263671 + Frame_Shift_Del DEL C C - TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr4:2263671delC ENST00000337190.2 - 1 350 c.37delG c.(37-39)ccfs p.A13fs MXD4_ENST00000515378.1_5'UTR NM_006454.2 NP_006445.1 Q14582 MAD4_HUMAN MAX dimerization protein 4 13 Interaction with SIN3A and SIN3B (By similarity). negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|endometrium(1)|kidney(1)|lung(3) 6 AGGTACTCGGCCGCCTCCAGC 0.801 2 4 --- --- --- --- SOBP 55084 broad.mit.edu 37 6 107956280 107956282 + In_Frame_Del DEL GCC GCC - TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr6:107956280_107956282delGCC ENST00000317357.5 + 6 2891_2893 c.2232_2234delGCC c.(2230-2235)cag>ca p.QP744del SOBP_ENST00000494935.1_3'UTR NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 744 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CTCCCGAGCAgccgccgccgccg 0.749 3 4 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-V1-A8WN-01A-11D-A377-08 TCGA-V1-A8WN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c37c3d52-109b-4aa9-91af-4599adb223f0 c2f36eb3-3972-4616-84d6-c570b24881f2 g.chr17:7798765delC ENST00000380358.4 + 10 1790 c.1789delC c.(1789-1791)ccfs p.P598fs CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs|CHD3_ENST00000330494.7_Frame_Shift_Del_p.P539fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 539 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) AGATGTCCCACCCCCCCGTCC 0.577 15 60 --- --- --- ---