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 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 0.557 4 74 --- --- --- --- 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_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_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 0.393 40 205 --- --- --- --- 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_ENST00000445061.1_Missense_Mutation_p.D841V|DHX30_ENST00000457607.1_Missense_Mutation_p.D869V 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 0.657 18 95 --- --- --- --- 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 0.552 3 30 --- --- --- --- 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 0.428 3 63 --- --- --- --- 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 0.313 16 41 --- --- --- --- 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 SLC25A51_ENST00000380590.3_Start_Codon_SNP_p.M1V|SLC25A51_ENST00000242275.6_Start_Codon_SNP_p.M1V|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron Q9H1U9 MCAR1_HUMAN solute carrier family 25, member 51 1 transport integral to membrane|mitochondrial inner membrane GAATCCATCATGCTGCTTAAG 0.348 26 90 --- --- --- --- 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_ENST00000307138.6_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1891G|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904G NM_001283044.1 NP_001269973.1 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 0.338 20 104 --- --- --- --- 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 0.353 19 123 --- --- --- --- CYSLTR1 10800 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_001282187.1|NM_001282188.1|NM_006639.3 NP_001269116.1|NP_001269117.1|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 0.378 4 73 --- --- --- --- 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.(421-426)ctgggafs p.LG141fs olfactory receptor, family 2, subfamily T, member 7 GCAGCCTGGCTGGGAGGGTCTA 0.579 4 7 --- --- --- --- 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)gccfs 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 --- --- --- ---