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 EFNB3 1949 broad.mit.edu 37 17 7611407 7611407 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:7611407G>A ENST00000226091.2 + 2 651 c.254G>A c.(253-255)gGg>gAg p.G85E NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 85 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TACCTGGTAGGGGGTGCTCAG 0.627000 57 54 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 7 131 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70681435 70681435 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr13:70681435T>C ENST00000377844.4 - 1 1156 c.397A>G c.(397-399)Atg>Gtg p.M133V ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Start_Codon_SNP_p.M1V NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 133 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGAAAGTCCATGCCTGGCACC 0.587000 84 31 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125826019 125826019 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:125826019G>A ENST00000393434.2 - 21 2767 c.2418C>T c.(2416-2418)ttC>ttT p.F806F ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.F816F|ALDH1L1_ENST00000472186.1_Silent_p.F806F|ALDH1L1_ENST00000452905.2_Silent_p.F705F NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 806 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TGACAGGCCCGAAGGACTCCT 0.512000 56 336 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160277110 160277110 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr4:160277110C>T ENST00000264431.4 + 23 4693 c.4274C>T c.(4273-4275)cCg>cTg p.P1425L NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1425 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GCCAGGAAACCGCCGGACTAC 0.612000 7 6 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94024258 94024258 + Silent SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:94024258T>C ENST00000265140.5 + 17 2588 c.2169T>C c.(2167-2169)tcT>tcC p.S723S NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 723 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) TGCTTGGGTCTGGAAAGATTC 0.378000 34 58 0 0 1 0 0 TMEM107 84314 broad.mit.edu 37 17 8077876 8077876 + Nonsense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:8077876C>T ENST00000316425.5 - 4 445 c.333G>A c.(331-333)tgG>tgA p.W111* TMEM107_ENST00000437139.2_Nonsense_Mutation_p.W105*|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.W111*|TMEM107_ENST00000431792.2_Intron NM_032354.3 NP_115730.2 Q6UX40 TM107_HUMAN transmembrane protein 107 105 integral to membrane large_intestine(1)|lung(4)|ovary(1) 6 TAGTGCACTCCCAACGCTCGA 0.493000 88 277 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100995422 100995422 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr14:100995422C>T ENST00000335290.6 + 6 1516 c.1290C>T c.(1288-1290)ccC>ccT p.P430P WDR25_ENST00000542471.2_Silent_p.P173P|WDR25_ENST00000402312.3_Silent_p.P430P|WDR25_ENST00000554998.1_Silent_p.P430P|WDR25_ENST00000557502.1_3'UTR NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 430 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) TCACCTGCCCCAGCCTCGCCT 0.622000 21 82 0 0 1 0 0 C9orf91 203197 broad.mit.edu 37 9 117399306 117399306 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:117399306C>A ENST00000374049.4 + 7 1062 c.625C>A c.(625-627)Cag>Aag p.Q209K C9orf91_ENST00000288502.4_Missense_Mutation_p.Q208K NM_153045.3 NP_694590.2 Q5VZI3 CI091_HUMAN chromosome 9 open reading frame 91 208 integral to membrane endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 13 GAACTGTGTGCAGTTTTTGTC 0.468000 32 84 6.00712e-18 6.84812e-18 1 1 0 RSPH1 89765 broad.mit.edu 37 21 43897434 43897434 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr21:43897434C>T ENST00000291536.3 - 7 861 c.694G>A c.(694-696)Gat>Aat p.D232N RSPH1_ENST00000398352.3_Missense_Mutation_p.D194N NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 232 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 CCAGGTCCATCCGTAGAGGTC 0.597000 25 47 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39763954 39763954 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:39763954C>A ENST00000395670.3 - 2 573 c.154G>T c.(154-156)Gac>Tac p.D52Y KIF21A_ENST00000361418.5_Missense_Mutation_p.D52Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D52Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D52Y Q7Z4S6 KI21A_HUMAN kinesin family member 21A 52 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AATACATAGTCAAAAGTAAAA 0.388000 40 118 2.87052e-16 3.24642e-16 1 1 0 ZNF606 80095 broad.mit.edu 37 19 58490276 58490276 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:58490276G>A ENST00000341164.4 - 7 2392 c.1772C>T c.(1771-1773)aCg>aTg p.T591M ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TTTCTCTCCCGTGTGAGTTCT 0.418000 94 106 0 0 1 0 0 C1orf85 112770 broad.mit.edu 37 1 156263268 156263268 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:156263268A>G ENST00000362007.1 - 5 924 c.898T>C c.(898-900)Tgc>Cgc p.C300R C1orf85_ENST00000368264.1_3'UTR|C1orf85_ENST00000472870.1_Intron NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 300 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) GAAGCTTGGCAGGGCAGGGCT 0.582000 11 34 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208648 53208648 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:53208648C>T ENST00000543227.1 - 6 1934 c.1660G>A c.(1660-1662)Gca>Aca p.A554T ZNF611_ENST00000319783.1_Missense_Mutation_p.A554T|ZNF611_ENST00000595798.1_Missense_Mutation_p.A485T|ZNF611_ENST00000602162.1_Missense_Mutation_p.A485T|ZNF611_ENST00000540744.1_Missense_Mutation_p.A554T|ZNF611_ENST00000453741.2_Missense_Mutation_p.A485T NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A554S(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GTATGTTTTGCCAGATAGGAA 0.403000 5 401 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130737546 130737546 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:130737546C>T ENST00000264992.3 - 4 1758 c.1317G>A c.(1315-1317)agG>agA p.R439R ASTE1_ENST00000514044.1_Silent_p.R439R NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 439 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 GCATCTGCCGCCTCCTCAAGG 0.433000 17 79 0 0 1 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139484 90139484 + RNA SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:90139484C>A ENST00000492446.1 + 0 282 CAAGGTTCAGCGGCAGTGGAT 0.498000 94 160 5.4523e-64 6.58435e-64 1 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 4 34 0 0 1 0 0 BCKDK 10295 broad.mit.edu 37 16 31120604 31120604 + Silent SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr16:31120604C>A ENST00000394951.1 + 3 683 c.60C>A c.(58-60)ctC>ctA p.L20L BCKDK_ENST00000394950.3_Silent_p.L20L|BCKDK_ENST00000287507.3_Silent_p.L20L|BCKDK_ENST00000219794.6_Silent_p.L20L|AC135050.1_ENST00000517000.2_RNA O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 20 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 TCCGGCCCCTCCTGGGACCCG 0.697000 4 18 0.184627 0.185277 1 1 0 CDHR2 54825 broad.mit.edu 37 5 176012980 176012980 + Silent SNP C C T rs114350001 by1000genomes TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:176012980C>T ENST00000510636.1 + 20 3034 c.2760C>T c.(2758-2760)gaC>gaT p.D920D CDHR2_ENST00000261944.5_Silent_p.D920D|CDHR2_ENST00000506348.1_Silent_p.D920D NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 920 Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCATTGAGGACGTGAATGACA 0.522000 29 94 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153176046 153176046 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chrX:153176046C>G ENST00000370028.3 - 17 2013 c.1956G>C c.(1954-1956)gaG>gaC p.E652D ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E589D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E434D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E591D|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.E612D NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 612 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCCACCCTCTCCGCTGTGG 0.701000 9 9 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17206556 17206556 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr8:17206556G>C ENST00000180173.5 - 5 537 c.503C>G c.(502-504)cCc>cGc p.P168R MTMR7_ENST00000521857.1_Missense_Mutation_p.P168R|MTMR7_ENST00000523571.1_5'UTR NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 168 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GGCCGATTTGGGAACGTACAG 0.453000 38 102 0 0 1 0 0 SHBG 6462 broad.mit.edu 37 17 7534049 7534049 + Silent SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:7534049T>C ENST00000380450.4 + 3 286 c.255T>C c.(253-255)ttT>ttC p.F85F SHBG_ENST00000576478.1_Silent_p.F27F|SHBG_ENST00000416273.3_Silent_p.F85F|SHBG_ENST00000570547.1_Silent_p.F27F|SHBG_ENST00000575903.1_Silent_p.F85F|SHBG_ENST00000340624.5_Silent_p.F27F|SHBG_ENST00000441599.2_Silent_p.F85F|SHBG_ENST00000575314.1_Silent_p.F27F|SHBG_ENST00000576728.1_Silent_p.F27F|SHBG_ENST00000574539.1_Silent_p.F27F|SHBG_ENST00000572182.1_Silent_p.F27F|SHBG_ENST00000572262.1_Silent_p.F27F NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 85 Laminin G-like 1. hormone transport extracellular region androgen binding|protein homodimerization activity p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) GAGTGATTTTTTATGGGGATA 0.512000 7 114 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44133692 44133692 + Splice_Site SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:44133692T>C ENST00000372396.3 + 9 1297 c.e9+2 NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 GAAGACAAGGTAACCCAGCAG 0.532000 138 61 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52384124 52384124 + Splice_Site SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:52384124G>T ENST00000420323.2 + 15 2907 c.2646_splice c.e15+1 p.E882_splice NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 882 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGGGCCTGGAGGTGAGGCAGG 0.652000 11 10 3.07112e-06 3.27816e-06 1 1 0 PCDH20 64881 broad.mit.edu 37 13 61987012 61987012 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr13:61987012G>A ENST00000409186.1 - 5 3325 c.1220C>T c.(1219-1221)cCt>cTt p.P407L PCDH20_ENST00000409204.4_Missense_Mutation_p.P407L Q8N6Y1 PCD20_HUMAN protocadherin 20 380 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GATTACAGCAGGGATGCAGCC 0.428000 23 115 0 0 1 0 0 TRAM1 23471 broad.mit.edu 37 8 71508497 71508497 + Splice_Site SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr8:71508497C>T ENST00000521425.1 - 5 1264 c.e5+1 TRAM1_ENST00000536748.1_Splice_Site|TRAM1_ENST00000262213.2_Splice_Site|TRAM1_ENST00000521049.1_Intron Q15629 TRAM1_HUMAN translocation associated membrane protein 1 cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 17 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) AAATGACTTACGTCATCAGGT 0.368000 79 107 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23855803 23855803 + Silent SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr14:23855803G>T ENST00000405093.3 - 33 4750 c.4680C>A c.(4678-4680)atC>atA p.I1560I MYH6_ENST00000356287.3_Silent_p.I1560I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1560 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGGCCCGGAGGATCTTGCCCT 0.632000 31 199 8.88839e-20 1.02558e-19 1 1 0 UAP1 6675 broad.mit.edu 37 1 162549382 162549382 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:162549382C>A ENST00000271469.3 + 4 952 c.650C>A c.(649-651)tCt>tAt p.S217Y UAP1_ENST00000367925.1_Missense_Mutation_p.S217Y|UAP1_ENST00000367926.4_Missense_Mutation_p.S217Y|UAP1_ENST00000367924.1_Missense_Mutation_p.S217Y Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 217 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AACAAAGTTTCTATGGCTCCA 0.318000 56 41 4.88506e-25 5.72939e-25 1 1 0 IFT80 57560 broad.mit.edu 37 3 160000392 160000392 + Missense_Mutation SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:160000392A>C ENST00000326448.7 - 14 1822 c.1390T>G c.(1390-1392)Ttg>Gtg p.L464V IFT80_ENST00000496589.1_Missense_Mutation_p.L327V|IFT80_ENST00000483465.1_Missense_Mutation_p.L327V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L635V NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 464 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GCAATTTCCAAGATTTCATTC 0.259000 28 142 0 0 1 0 0 SHBG 6462 broad.mit.edu 37 17 7534051 7534051 + Missense_Mutation SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:7534051A>T ENST00000380450.4 + 3 288 c.257A>T c.(256-258)tAt>tTt p.Y86F SHBG_ENST00000576478.1_Missense_Mutation_p.Y28F|SHBG_ENST00000416273.3_Missense_Mutation_p.Y86F|SHBG_ENST00000570547.1_Missense_Mutation_p.Y28F|SHBG_ENST00000575903.1_Missense_Mutation_p.Y86F|SHBG_ENST00000340624.5_Missense_Mutation_p.Y28F|SHBG_ENST00000441599.2_Missense_Mutation_p.Y86F|SHBG_ENST00000575314.1_Missense_Mutation_p.Y28F|SHBG_ENST00000576728.1_Missense_Mutation_p.Y28F|SHBG_ENST00000574539.1_Missense_Mutation_p.Y28F|SHBG_ENST00000572182.1_Missense_Mutation_p.Y28F|SHBG_ENST00000572262.1_Missense_Mutation_p.Y28F NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 86 Laminin G-like 1. hormone transport extracellular region androgen binding|protein homodimerization activity p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) GTGATTTTTTATGGGGATACC 0.512000 7 118 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111147088 111147088 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:111147088A>G ENST00000485317.1 - 3 990 c.317T>C c.(316-318)tTa>tCa p.L106S KCNA2_ENST00000369770.3_Missense_Mutation_p.L106S|KCNA2_ENST00000440270.1_Missense_Mutation_p.L106S|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.L106S P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 106 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) GAATATATCTAAGGGCACATT 0.473000 3 35 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136232 40136232 + Silent SNP T T A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:40136232T>A ENST00000278198.2 - 2 3574 c.1611A>T c.(1609-1611)acA>acT p.T537T LRRC4C_ENST00000528697.1_Silent_p.T537T|LRRC4C_ENST00000527150.1_Silent_p.T537T|LRRC4C_ENST00000530763.1_Silent_p.T537T Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 537 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CAGCCATGAGTGTGATGGCCA 0.453000 8 85 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506762 11506762 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:11506762G>C ENST00000500254.2 - 3 312 c.275C>G c.(274-276)tCt>tGt p.S92C PRB1_ENST00000545626.1_Missense_Mutation_p.S92C|PRB1_ENST00000546254.1_Missense_Mutation_p.S92C NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 275 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TCCTGGAGGAGATCGGGGACT 0.617000 219 783 0 0 1 0 0 MED20 9477 broad.mit.edu 37 6 41884614 41884614 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:41884614C>T ENST00000265350.4 - 2 158 c.78G>A c.(76-78)cgG>cgA p.R26R MED20_ENST00000409060.1_Silent_p.R26R|MED20_ENST00000409312.1_Silent_p.R26R|MED20_ENST00000467535.1_5'UTR NM_004275.3 NP_004266.2 Q9H944 MED20_HUMAN mediator complex subunit 20 26 regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1) 5 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCTCCAATTTCCGGGTAAGGA 0.537000 18 62 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40958310 40958310 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:40958310C>T ENST00000313164.9 + 11 1795 c.1436C>T c.(1435-1437)cCg>cTg p.P479L NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 479 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.P479Q(1) Ovarian(839;0.0112) CATTGCAAACCGTACACATTT 0.507000 4 153 0 0 1 0 0 IGFL3 388555 broad.mit.edu 37 19 46627904 46627904 + Translation_Start_Site SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:46627904C>T ENST00000341415.2 - 1 27 c.3G>A c.(1-3)atG>atA p.M1I AC007193.6_ENST00000597989.1_lincRNA NM_207393.1 NP_997276.1 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 1 extracellular region protein binding endometrium(1)|large_intestine(1)|lung(5) 7 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) ATCGTGGCCTCATGCTTCCAA 0.463000 19 79 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47346191 47346191 + Missense_Mutation SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:47346191A>C ENST00000405573.2 + 13 1428 c.1215A>C c.(1213-1215)caA>caC p.Q405H MADD_ENST00000395336.3_Intron|MADD_ENST00000311027.5_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000407859.3_Intron Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 0 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CCAATGTCCAAGCCCCCAGTA 0.582000 7 5 0 0 1 0 0 LDOC1 23641 broad.mit.edu 37 X 140271069 140271069 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chrX:140271069C>T ENST00000370526.2 - 1 241 c.138G>A c.(136-138)ccG>ccA p.P46P LDOC1_ENST00000460721.1_Intron NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 46 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) GGCAGCTCGGCGGACGTACCT 0.642000 37 8 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687004 68687004 + Missense_Mutation SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr10:68687004A>C ENST00000361320.4 + 2 908 c.330A>C c.(328-330)agA>agC p.R110S CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 110 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 GAATACGCAGACTCAAAGAGC 0.368000 25 188 0 0 1 0 0 PSIP1 11168 broad.mit.edu 37 9 15506632 15506632 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:15506632C>G ENST00000380733.4 - 3 419 c.76G>C c.(76-78)Gac>Cac p.D26H PSIP1_ENST00000380738.4_Missense_Mutation_p.D26H|PSIP1_ENST00000380716.4_Missense_Mutation_p.D26H|PSIP1_ENST00000397519.2_Missense_Mutation_p.D26H|PSIP1_ENST00000484265.1_5'UTR|PSIP1_ENST00000380715.1_Missense_Mutation_p.D26H O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 26 PWWP. initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) GGAACTTCGTCTACCTAAAAG 0.348000 29 51 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5411022 5411022 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:5411022T>C ENST00000328611.3 + 1 416 c.394T>C c.(394-396)Ttt>Ctt p.F132L HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 132 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGATGTCCTTTGACCGCCT 0.502000 81 171 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18766140 18766140 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:18766140C>T ENST00000304081.4 - 4 463 c.363G>A c.(361-363)gcG>gcA p.A121A NT5C1B_ENST00000359846.2_Silent_p.A181A|NT5C1B_ENST00000600945.1_Silent_p.A181A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A181A NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GCTGGGGCGACGCGGGTGGCT 0.716000 8 21 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111681115 111681115 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:111681115C>T ENST00000374647.5 - 8 1023 c.716G>A c.(715-717)gGa>gAa p.G239E IKBKAP_ENST00000537196.1_Intron NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 239 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity p.G239E(1) NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGGTCCCAGTCCTGCCACAGG 0.522000 12 71 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7948606 7948606 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:7948606C>T ENST00000380183.4 + 7 1039 c.900C>T c.(898-900)acC>acT p.T300T ALOX15B_ENST00000572022.1_Silent_p.T300T|ALOX15B_ENST00000573359.1_Silent_p.T300T|ALOX15B_ENST00000380173.2_Silent_p.T300T NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 300 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GCATCCAGACCAATGTCATTA 0.567000 58 58 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103987522 103987522 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr4:103987522C>A ENST00000394785.3 - 3 864 c.233G>T c.(232-234)tGc>tTc p.C78F SLC9B2_ENST00000339611.4_Missense_Mutation_p.C78F|SLC9B2_ENST00000503103.1_Missense_Mutation_p.C78F|SLC9B2_ENST00000362026.3_Missense_Mutation_p.C78F|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.C78F NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 78 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity ATGTGGAGGGCAAGCCAGCAT 0.383000 107 103 2.15005e-58 2.5855e-58 1 1 0 GOLGA1 2800 broad.mit.edu 37 9 127674281 127674281 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:127674281C>G ENST00000373555.4 - 11 1201 c.868G>C c.(868-870)Gaa>Caa p.E290Q NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 290 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 ATAACGTCTTCTTTCTCTTGA 0.443000 30 81 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564553 176564553 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:176564553A>G ENST00000367662.3 + 3 2977 c.1813A>G c.(1813-1815)Aca>Gca p.T605A PAPPA2_ENST00000367661.3_Missense_Mutation_p.T605A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 605 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCACCCACTCACAGGCTATGA 0.587000 15 67 0 0 1 0 0 ARPC1B 10095 broad.mit.edu 37 7 98988690 98988690 + Silent SNP C C T rs138310411 TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:98988690C>T ENST00000451682.1 + 8 984 c.675C>T c.(673-675)acC>acT p.T225T ARPC1B_ENST00000252725.5_Silent_p.T225T O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 225 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ACGACAGCACCGTCTGCCTGG 0.622000 22 32 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154862767 154862767 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:154862767C>T ENST00000287907.2 + 1 734 c.158C>T c.(157-159)gCg>gTg p.A53V AC093726.4_ENST00000395731.2_Missense_Mutation_p.A83T|AC093726.4_ENST00000543018.1_Missense_Mutation_p.A83T|AC093726.4_ENST00000493904.1_5'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 53 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTGGTGGCGGCGACGTTCGCC 0.642000 16 79 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140637884 140637884 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:140637884C>T ENST00000460843.1 + 5 912 c.885C>T c.(883-885)acC>acT p.T295T EHMT1_ENST00000334856.6_Silent_p.T264T|EHMT1_ENST00000462484.1_Silent_p.T295T|EHMT1_ENST00000371394.2_3'UTR NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 295 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GAATGGGAACCTATAGCCTGG 0.383000 21 66 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170235604 170235604 + Splice_Site SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:170235604G>A ENST00000518525.1 + 9 1144 c.679_splice c.e9-1 p.G227_splice GABRP_ENST00000519385.1_Splice_Site_p.G227_splice|GABRP_ENST00000265294.4_Splice_Site_p.G227_splice|GABRP_ENST00000519598.1_Splice_Site_p.G227_splice O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 227 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACCCTTTCAGGAAATTACACT 0.403000 19 47 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85486741 85486741 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr15:85486741C>T ENST00000394573.1 + 16 1849 c.1647C>T c.(1645-1647)atC>atT p.I549I SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Silent_p.I549I|SLC28A1_ENST00000537624.1_Silent_p.I549I|SLC28A1_ENST00000538177.1_Silent_p.I383I NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 549 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCATTGGGATCATGCTGGGAG 0.522000 15 75 0 0 1 0 0 STAT6 6778 broad.mit.edu 37 12 57490672 57490672 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:57490672C>T ENST00000300134.3 - 21 2640 c.2315G>A c.(2314-2316)tGc>tAc p.C772Y STAT6_ENST00000454075.3_Missense_Mutation_p.C772Y|STAT6_ENST00000537215.2_Missense_Mutation_p.C662Y|STAT6_ENST00000543873.2_Missense_Mutation_p.C772Y|STAT6_ENST00000556155.1_Missense_Mutation_p.C772Y|STAT6_ENST00000538913.2_Missense_Mutation_p.C662Y NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 772 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 CTGGCTCAGGCAGCTGTCTTC 0.642000 48 47 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 4 113 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106840686 106840686 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chrX:106840686T>C ENST00000276185.4 + 15 1676 c.1676T>C c.(1675-1677)gTc>gCc p.V559A Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 559 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TCTGAGCTTGTCAGCTTCTGC 0.582000 17 42 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130305488 130305488 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:130305488G>A ENST00000358511.6 + 10 4140 c.4109G>A c.(4108-4110)cGg>cAg p.R1370Q COL6A6_ENST00000453409.2_Missense_Mutation_p.R1370Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1370 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTTGGAAGCCGGCTGTCAAAG 0.373000 36 67 0 0 1 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464576 141464576 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:141464576C>T ENST00000247879.2 + 1 680 c.618C>T c.(616-618)tcC>tcT p.S206S SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 206 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) TCATCTTCTCCCTGGGGAGGC 0.517000 36 126 0 0 1 0 0 ICA1L 130026 broad.mit.edu 37 2 203693718 203693718 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:203693718C>T ENST00000392237.2 - 3 172 c.15G>A c.(13-15)ggG>ggA p.G5G ICA1L_ENST00000418208.1_Silent_p.G5G|ICA1L_ENST00000425178.1_Silent_p.G5G|ICA1L_ENST00000358299.2_Silent_p.G5G NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 5 breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTCTGGGTTGCCCAAAGGAAT 0.383000 44 113 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133041131 133041131 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:133041131C>G ENST00000253861.4 + 6 840 c.811C>G c.(811-813)Cca>Gca p.P271A EXOC4_ENST00000539845.1_Missense_Mutation_p.P170A|EXOC4_ENST00000393161.2_Missense_Mutation_p.P271A NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 271 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AGAATTGGATCCAGAGGAAAA 0.398000 7 170 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 163032436 163032436 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr4:163032436C>G ENST00000306100.5 - 2 549 c.113G>C c.(112-114)aGa>aCa p.R38T FSTL5_ENST00000536695.1_Missense_Mutation_p.R38T|FSTL5_ENST00000427802.2_Missense_Mutation_p.R38T|FSTL5_ENST00000379164.4_Missense_Mutation_p.R38T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 38 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATGTCGCAATCTCATTAGAGG 0.403000 66 65 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 360043 360043 + Missense_Mutation SNP C C T rs36045489 TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr16:360043C>T ENST00000262320.3 - 4 1417 c.1046G>A c.(1045-1047)cGt>cAt p.R349H AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Missense_Mutation_p.R349H NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 349 Interaction with GSK3B (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GTGCTGCTTACGGATCCTGTA 0.612000 5 22 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762251 92762251 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:92762251C>T ENST00000318238.4 - 5 4250 c.3034G>A c.(3034-3036)Gca>Aca p.A1012T SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1012T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1012T NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1012 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ATATTCAATGCAATTTGACAT 0.363000 77 115 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40690691 40690691 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:40690691C>T ENST00000225927.2 + 4 783 c.682C>T c.(682-684)Cgg>Tgg p.R228W RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 228 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCTCCAGCACCGGGTCCTGGA 0.627000 16 69 0 0 1 0 0 SOX9 6662 broad.mit.edu 37 17 70119806 70119806 + Missense_Mutation SNP T T A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:70119806T>A ENST00000245479.2 + 3 1180 c.808T>A c.(808-810)Ttc>Atc p.F270I NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 270 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CCCTATCGACTTCCGCGACGT 0.647000 76 66 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546292 112546292 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:112546292T>C ENST00000488794.1 - 5 878 c.289A>G c.(289-291)Act>Gct p.T97A CD200R1L_ENST00000398214.1_Missense_Mutation_p.T118A|CD200R1L_ENST00000448932.1_Missense_Mutation_p.T97A Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 118 Ig-like V-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 CCGTCATGAGTGGTGTCCACC 0.463000 152 137 0 0 1 0 0 BLZF1 8548 broad.mit.edu 37 1 169345982 169345982 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:169345982C>G ENST00000367808.3 + 3 656 c.233C>G c.(232-234)gCt>gGt p.A78G BLZF1_ENST00000329281.2_Missense_Mutation_p.A78G|BLZF1_ENST00000367807.3_Missense_Mutation_p.A78G Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 78 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) GAAGTTAAAGCTGTAAGAATA 0.403000 30 77 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216737575 216737575 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:216737575G>A ENST00000391890.3 - 7 1317 c.800C>T c.(799-801)gCg>gTg p.A267V ESRRG_ENST00000493603.1_Missense_Mutation_p.A260V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A283V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A260V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A221V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A260V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A260V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A260V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A260V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A295V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A260V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A260V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A260V NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 283 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) AATATGCTTCGCCCATCCAAT 0.418000 27 66 0 0 1 0 0 ANXA2R 389289 broad.mit.edu 37 5 43040113 43040113 + Silent SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:43040113A>C ENST00000314890.3 - 2 1455 c.36T>G c.(34-36)gcT>gcG p.A12A NM_001014279.2 NP_001014301.1 Q3ZCQ2 AX2R_HUMAN annexin A2 receptor 12 receptor activity CGGAATCCCAAGCCCGCTTCA 0.562000 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 88 0 0 1 0 0 NBPF20 100288142 broad.mit.edu 37 1 148346651 148346651 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:148346651C>T ENST00000369202.1 - 2 303 c.106G>A c.(106-108)Gga>Aga p.G36R NBPF20_ENST00000414710.2_Missense_Mutation_p.G36R neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 TTGAGGTTTCCGAACTGCTGT 0.483000 23 264 0 0 1 0 0 SERINC3 10955 broad.mit.edu 37 20 43129789 43129789 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr20:43129789T>C ENST00000342374.4 - 9 1365 c.1208A>G c.(1207-1209)tAt>tGt p.Y403C SERINC3_ENST00000255175.1_Missense_Mutation_p.Y403C|SERINC3_ENST00000541235.1_Missense_Mutation_p.Y348C NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 403 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GGAGTAGCTATACTGCACTCC 0.512000 58 44 0 0 1 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464575 141464575 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:141464575C>T ENST00000247879.2 + 1 679 c.617C>T c.(616-618)tCc>tTc p.S206F SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 206 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) CTCATCTTCTCCCTGGGGAGG 0.517000 36 126 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124811994 124811994 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:124811994C>T ENST00000356219.3 - 46 7320 c.7165G>A c.(7165-7167)Gct>Act p.A2389T NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2372T|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2382T|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1943T NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2393 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCGTCAGCAGCGGTTATGGGC 0.637000 5 118 0 0 1 0 0 GPALPP1 55425 broad.mit.edu 37 13 45594503 45594503 + Missense_Mutation SNP T T G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr13:45594503T>G ENST00000361121.2 + 7 779 c.744T>G c.(742-744)gaT>gaG p.D248E RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_Missense_Mutation_p.D78E|KIAA1704_ENST00000379151.4_Missense_Mutation_p.D248E Q8IXQ4 K1704_HUMAN 248 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) GTAAGAAAGATGAAGAACATA 0.333000 26 98 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25672188 25672188 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr13:25672188A>G ENST00000281589.3 + 1 1889 c.1852A>G c.(1852-1854)Acc>Gcc p.T618A NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 618 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.T618A(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TAAAGAGGCTACCCAGAAAGC 0.408000 12 194 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528525 65528525 + Silent SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr8:65528525G>T ENST00000310193.3 - 3 746 c.573C>A c.(571-573)atC>atA p.I191I NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 191 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TTGTAAATGTGATCTCAAATA 0.323000 8 67 0.000442599 0.000453744 1 1 0 F3 2152 broad.mit.edu 37 1 95005817 95005817 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:95005817T>C ENST00000334047.7 - 2 371 c.208A>G c.(208-210)Ata>Gta p.I70V F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Missense_Mutation_p.I70V NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) 70 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) GCTTACCTTATTTGAACAGTG 0.348000 57 26 0 0 1 0 0 USP13 8975 broad.mit.edu 37 3 179439330 179439330 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:179439330C>T ENST00000263966.3 + 8 1512 c.1041C>T c.(1039-1041)ctC>ctT p.L347L USP13_ENST00000496897.1_Silent_p.L282L|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 347 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GCTGCTATCTCAGCTCTGTCA 0.567000 13 146 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21744171 21744171 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:21744171G>A ENST00000328843.6 + 39 6445 c.6414G>A c.(6412-6414)aaG>aaA p.K2138K DNAH11_ENST00000409508.3_Silent_p.K2131K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2138 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGAGGAGGAAGCTGCACTTTG 0.527000 Kartagener syndrome 14 29 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105406956 105406956 + Silent SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr14:105406956A>C ENST00000333244.5 - 7 14951 c.14832T>G c.(14830-14832)gcT>gcG p.A4944A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4944 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTCGTGGTCAGCATCTTCAG 0.552000 14 72 0 0 1 0 0 KIAA1737 85457 broad.mit.edu 37 14 77576297 77576297 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr14:77576297C>T ENST00000361786.2 + 3 596 c.279C>T c.(277-279)gtC>gtT p.V93V KIAA1737_ENST00000555437.1_Intron|KIAA1737_ENST00000555611.1_Silent_p.V93V|RP11-463C8.4_ENST00000557752.1_Intron NM_033426.2 NP_219494.2 Q9C0C6 K1737_HUMAN KIAA1737 93 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) CTCCCATGGTCGTCATGAAGA 0.473000 15 96 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578176 7578176 + Splice_Site SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:7578176C>A ENST00000420246.2 - 6 805 c.e6+1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAAACCAGACCTCAGGCGGC 0.527000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 24 3.45872e-05 3.59757e-05 1 1 0 GALNT13 114805 broad.mit.edu 37 2 155099238 155099238 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:155099238A>G ENST00000392825.3 + 6 1073 c.506A>G c.(505-507)tAc>tGc p.Y169C GALNT13_ENST00000409237.1_Missense_Mutation_p.Y169C NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 169 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TTAGAGAATTACGTGAAAAAT 0.348000 15 55 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940316 113940316 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:113940316G>A ENST00000245796.6 + 2 478 c.283G>A c.(283-285)Gac>Aac p.D95N PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.D95N NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 95 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCGGGCCACTGACCCTCCTGA 0.642000 14 44 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32542340 32542340 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:32542340G>C ENST00000360538.2 - 3 2299 c.2183C>G c.(2182-2184)gCt>gGt p.A728G TOPORS_ENST00000379858.1_Missense_Mutation_p.A663G NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 728 Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) AGAATAATGAGCTCTGGACAG 0.378000 49 104 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921802 5921802 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:5921802C>G ENST00000399933.3 - 8 4193 c.4194G>C c.(4192-4194)aaG>aaC p.K1398N KIAA2026_ENST00000381461.2_Missense_Mutation_p.K1368N NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1398 Ser-rich. breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AAATAGAGGACTTCAAGGGAG 0.403000 37 54 0 0 1 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219383944 219383944 + Silent SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:219383944A>G ENST00000366928.5 + 4 479 c.432A>G c.(430-432)gtA>gtG p.V144V LYPLAL1_ENST00000366927.3_Silent_p.V128V|LYPLAL1_ENST00000483635.1_3'UTR NM_138794.3 NP_620149.1 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 144 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) TGGCAGGAGTATTTGCTCTTT 0.299000 37 31 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31589782 31589782 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:31589782C>T ENST00000379416.3 - 21 2324 c.2276G>A c.(2275-2277)gGg>gAg p.G759E NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 759 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTCCATCTCCCCTGCCTCGCC 0.552000 32 142 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75980081 75980081 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr15:75980081C>T ENST00000308508.5 - 3 3417 c.3325G>A c.(3325-3327)Gac>Aac p.D1109N NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1109 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TGTTGCCCGTCGGACACCTGC 0.657000 21 75 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128712308 128712308 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:128712308T>C ENST00000392664.2 - 1 121 c.5A>G c.(4-6)aAt>aGt p.N2S KCNJ1_ENST00000440599.2_Intron|KCNJ1_ENST00000392665.2_Intron|KCNJ1_ENST00000392666.1_Intron|KCNJ1_ENST00000324036.3_Intron NM_000220.4 NP_000211.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 2 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) ACTGGAAGCATTCATGGCTGG 0.448000 13 46 0 0 1 0 0 KPTN 11133 broad.mit.edu 37 19 47980089 47980089 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:47980089G>T ENST00000338134.3 - 10 1077 c.970C>A c.(970-972)Cca>Aca p.P324T KPTN_ENST00000536339.1_Missense_Mutation_p.P84T NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 324 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) AGGACTTCTGGCCGCCCATCC 0.622000 4 7 1.23904e-05 1.2935e-05 1 1 0 GRM3 2913 broad.mit.edu 37 7 86415986 86415986 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:86415986C>A ENST00000361669.2 + 3 1977 c.878C>A c.(877-879)gCc>gAc p.A293D GRM3_ENST00000439827.1_Missense_Mutation_p.A293D|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A291D|GRM3_ENST00000536043.1_Missense_Mutation_p.A165D NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 293 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CGCGCCAATGCCTCCTTCACC 0.672000 47 92 1.83081e-24 2.12106e-24 1 1 0 STRAP 11171 broad.mit.edu 37 12 16048404 16048404 + Silent SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:16048404A>G ENST00000419869.2 + 6 925 c.612A>G c.(610-612)cgA>cgG p.R204R STRAP_ENST00000538352.1_Silent_p.R110R|STRAP_ENST00000025399.6_Silent_p.R217R NM_007178.3 NP_009109.3 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated protein 204 mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 15 Hepatocellular(102;0.121) CTTATGGACGATCTATTGCTT 0.313000 46 92 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 92008515 92008515 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:92008515G>A ENST00000450295.1 - 7 1246 c.470C>T c.(469-471)cCc>cTc p.P157L SEMA4D_ENST00000343780.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P157L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P157L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P157L Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 157 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 TGGGTCAAAGGGACATCTTCC 0.428000 31 66 0 0 1 0 0 LOXL3 84695 broad.mit.edu 37 2 74779668 74779668 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:74779668C>T ENST00000264094.3 - 2 165 c.94G>A c.(94-96)Ggc>Agc p.G32S LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000393937.2_Missense_Mutation_p.G32S|LOXL3_ENST00000409249.1_Missense_Mutation_p.G32S|LOXL3_ENST00000409986.1_Missense_Mutation_p.G32S|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.G32S NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 32 extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 TTCTCAGGGCCCGTGGAAGGG 0.677000 15 31 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94539795 94539795 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:94539795A>G ENST00000289495.5 + 1 586 c.370A>G c.(370-372)Att>Gtt p.I124V PPP1R9A_ENST00000340694.4_Missense_Mutation_p.I124V|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.I124V|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.I124V NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 124 Actin-binding. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TTCTGAACGAATTAGTAGATT 0.403000 HNSCC(28;0.073) 25 199 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158140013 158140013 + Missense_Mutation SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:158140013A>T ENST00000313708.6 - 13 1616 c.1334T>A c.(1333-1335)gTg>gAg p.V445E EBF1_ENST00000517373.1_Missense_Mutation_p.V437E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.V414E NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 445 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGAGACATTCACGGCCAGTTG 0.542000 T HMGA2 lipoma 4 78 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90021381 90021381 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:90021381A>G ENST00000405460.2 + 48 10165 c.10069A>G c.(10069-10071)Att>Gtt p.I3357V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3357 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AACAATCATTATTCTGGAAAG 0.343000 23 48 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25480447 25480447 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr13:25480447C>T ENST00000381884.4 - 7 1914 c.1729G>A c.(1729-1731)Gaa>Aaa p.E577K CENPJ_ENST00000545981.1_Missense_Mutation_p.E577K NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 577 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AACAAAAATTCATCTAATTCC 0.343000 14 57 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74989534 74989534 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr14:74989534C>A ENST00000261978.4 - 16 3004 c.2618G>T c.(2617-2619)aGc>aTc p.S873I LTBP2_ENST00000556690.1_Missense_Mutation_p.S873I NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 873 Cys-rich.|EGF-like 4. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GTAGCCAGGGCTGCAGACACA 0.617000 6 33 0.00307968 0.00313467 1 1 0 GBP3 2635 broad.mit.edu 37 1 89474782 89474782 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:89474782T>C ENST00000370481.4 - 10 1727 c.1507A>G c.(1507-1509)Atg>Gtg p.M503V NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 503 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TCCTCCACCATTTTTGCTGAA 0.388000 7 97 0 0 1 0 0 RIOK3 8780 broad.mit.edu 37 18 21053550 21053550 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr18:21053550A>G ENST00000339486.3 + 8 1590 c.973A>G c.(973-975)Atc>Gtc p.I325V RIOK3_ENST00000577501.1_Missense_Mutation_p.I325V|RIOK3_ENST00000581585.1_Missense_Mutation_p.I309V NM_003831.3 NP_003822.2 O14730 RIOK3_HUMAN RIO kinase 3 325 Protein kinase. I -> H (in Ref. 1; AAC26080). chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) ACGTAAGATCATCCGCATGTG 0.323000 29 16 0 0 1 0 0 TAAR1 134864 broad.mit.edu 37 6 132966643 132966643 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:132966643C>T ENST00000275216.1 - 1 499 c.500G>A c.(499-501)gGc>gAc p.G167D NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 167 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) CTCTTCAGCGCCTTTGAAGTT 0.373000 39 55 0 0 1 0 0 MRPL46 26589 broad.mit.edu 37 15 89010583 89010583 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr15:89010583A>G ENST00000312475.4 - 1 67 c.26T>C c.(25-27)cTg>cCg p.L9P NM_022163.3 NP_071446.2 Q9H2W6 RM46_HUMAN mitochondrial ribosomal protein L46 9 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) CACCCCTAACAGCGTCCGCCT 0.672000 4 3 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16071484 16071484 + Splice_Site SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:16071484C>G ENST00000352083.6 - 11 1329 c.1251_splice c.e11-1 p.D418_splice SOX6_ENST00000528429.1_Splice_Site_p.D418_splice|SOX6_ENST00000528252.1_Splice_Site_p.D377_splice|SOX6_ENST00000396356.3_Splice_Site_p.D418_splice|SOX6_ENST00000527619.1_Splice_Site_p.D380_splice|SOX6_ENST00000316399.6_Splice_Site_p.D418_splice P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 418 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GCTGCTTCATCCTACAAGAGT 0.443000 10 138 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76558166 76558166 + Silent SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:76558166A>G ENST00000369981.3 + 11 1275 c.996A>G c.(994-996)gaA>gaG p.E332E MYO6_ENST00000369977.3_Silent_p.E332E|MYO6_ENST00000369985.4_Silent_p.E332E|MYO6_ENST00000369975.1_Silent_p.E332E Q9UM54 MYO6_HUMAN myosin VI 332 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) TGGATGATGAAGAAAAGCTTG 0.403000 41 85 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180230 124180230 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:124180230C>G ENST00000357821.2 - 1 503 c.433G>C c.(433-435)Gtg>Ctg p.V145L NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GCAGCCAGCACTAGCAGTGAG 0.473000 17 15 0 0 1 0 0 DTWD2 285605 broad.mit.edu 37 5 118176728 118176728 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:118176728G>T ENST00000304058.4 - 6 653 c.583C>A c.(583-585)Caa>Aaa p.Q195K DTWD2_ENST00000515439.3_Missense_Mutation_p.Q165K|DTWD2_ENST00000510708.1_Missense_Mutation_p.Q261K Q8NBA8 DTWD2_HUMAN DTW domain containing 2 261 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) AGGCGAATTTGGGCACCATGC 0.383000 15 34 2.23348e-06 2.40205e-06 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25339085 25339085 + RNA SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr15:25339085G>A ENST00000546682.1 + 0 1074 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 CATATGTGGCGTGGGCTTCTT 0.512000 13 46 0 0 1 0 0 MKRN2 23609 broad.mit.edu 37 3 12616300 12616300 + Silent SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:12616300T>C ENST00000170447.7 + 5 789 c.652T>C c.(652-654)Ttg>Ctg p.L218L MKRN2_ENST00000411987.1_Silent_p.L175L|MKRN2_ENST00000448482.1_Silent_p.L216L NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 218 Makorin-type Cys-His. intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 GATCTGCATGTTGACGTTCGA 0.552000 68 35 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87912155 87912155 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:87912155C>T ENST00000380079.4 - 3 886 c.785G>A c.(784-786)gGt>gAt p.G262D AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G262D|STEAP4_ENST00000301959.5_Intron NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 262 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) AGCAATAACACCAGGGAGGTA 0.433000 51 131 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7406588 7406588 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:7406588A>G ENST00000322644.6 + 17 3304 c.2905A>G c.(2905-2907)Atc>Gtc p.I969V NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 969 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GCTCAGGGTCATCTTCCCAAC 0.597000 22 69 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57758661 57758661 + Missense_Mutation SNP T T A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:57758661T>A ENST00000269122.3 + 20 3345 c.3071T>A c.(3070-3072)cTg>cAg p.L1024Q CLTC_ENST00000393043.1_Missense_Mutation_p.L1024Q|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1024 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TAAAGGAATCTGCAAAACCTC 0.348000 T """ALK, TFE3""" """ALCL, renal """ 4 168 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151166279 151166279 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:151166279C>A ENST00000282466.3 - 4 1489 c.1490G>T c.(1489-1491)tGc>tTc p.C497F NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 497 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGGCCTGGGCAGTTCAGGCC 0.493000 61 288 1.22119e-34 1.44415e-34 1 1 0 PCDHB17P 54661 broad.mit.edu 37 5 140537133 140537133 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:140537133G>A ENST00000539533.1 + 1 1557 c.1557G>A c.(1555-1557)tcG>tcA p.S519S CCCTCAGGTCGCTGGACTACG 0.667000 6 188 0 0 1 0 0 TMEM116 89894 broad.mit.edu 37 12 112369503 112369503 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:112369503C>T ENST00000354825.3 - 13 1315 c.660G>A c.(658-660)caG>caA p.Q220Q TMEM116_ENST00000355445.3_Silent_p.Q277Q|TMEM116_ENST00000437003.2_Silent_p.Q220Q|TMEM116_ENST00000549537.2_Silent_p.Q126Q|TMEM116_ENST00000552374.2_Silent_p.Q312Q|TMEM116_ENST00000550831.3_Silent_p.Q220Q Q8NCL8 TM116_HUMAN transmembrane protein 116 220 integral to membrane endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1) 8 AGAATCTCTTCTGTGAGCATA 0.448000 59 97 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98164960 98164960 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:98164960C>T ENST00000370192.3 - 6 727 c.627G>A c.(625-627)ttG>ttA p.L209L DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 209 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAGAGTACCCCAATCGAGCCA 0.393000 4 116 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940148 31940148 + Missense_Mutation SNP T T A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:31940148T>A ENST00000375331.2 + 2 456 c.290T>A c.(289-291)cTc>cAc p.L97H STK19_ENST00000375333.2_Missense_Mutation_p.L97H NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 97 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 TTCTCTTCCCTCCATTCCTAC 0.572000 23 65 0 0 1 0 0 RPP30 10556 broad.mit.edu 37 10 92645569 92645569 + Splice_Site SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr10:92645569A>G ENST00000413330.1 + 6 378 c.342_splice c.e6-1 p.I115_splice RPP30_ENST00000371703.3_Splice_Site_p.I115_splice NM_001104546.1 NP_001098016.1 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit 115 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 8 TTCTTTACAGATTGCTTGCAC 0.353000 17 41 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445592 29445592 + Nonsense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr22:29445592C>T ENST00000544604.2 + 8 1598 c.1423C>T c.(1423-1425)Cag>Tag p.Q475* ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q375*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q375* NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 475 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CTACTACTTCCAGGGCCTCAG 0.667000 9 78 0 0 1 0 0 STH 246744 broad.mit.edu 37 17 44076712 44076712 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:44076712G>T ENST00000537309.1 + 1 97 c.67G>T c.(67-69)Gcc>Tcc p.A23S MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Intron NM_001007532.2 NP_001007533.1 Q8IWL8 STH_HUMAN saitohin 23 cytoplasm|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 caggtggccggccctcattga 0.542000 18 53 5.3912e-06 5.71187e-06 1 1 0 MYO15A 51168 broad.mit.edu 37 17 18070934 18070934 + Missense_Mutation SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:18070934A>T ENST00000205890.5 + 62 10317 c.9979A>T c.(9979-9981)Agc>Tgc p.S3327C MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.S591C NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3327 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGGACTCTTCAGCAGTGTGCC 0.667000 8 46 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81339548 81339548 + Missense_Mutation SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:81339548A>T ENST00000222390.5 - 13 1682 c.1456T>A c.(1456-1458)Tct>Act p.S486T HGF_ENST00000457544.2_Missense_Mutation_p.S481T NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 486 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TTGGCACAAGATATTACGGGA 0.313000 61 87 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100200410 100200410 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:100200410G>A ENST00000547776.2 - 4 440 c.441C>T c.(439-441)ctC>ctT p.L147L ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.L147L NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 147 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GCTCTTCTAGGAGAACAGCAA 0.418000 8 44 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164758727 164758727 + Splice_Site SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:164758727C>T ENST00000264382.3 - 18 2222 c.e18+1 NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTAGTACTCACTCATGAAGAA 0.318000 HNSCC(35;0.089) 156 174 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135113043 135113043 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr10:135113043C>T ENST00000368563.2 - 4 700 c.344G>A c.(343-345)aGc>aAc p.S115N TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S115N|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_5'UTR|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.S115N NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 115 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GGTGGTACTGCTGCCCACAGC 0.552000 41 37 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121544496 121544496 + Silent SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:121544496A>C ENST00000275159.6 - 21 2366 c.2367T>G c.(2365-2367)tcT>tcG p.S789S TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.S789S TBC1 domain family, member 32 GTGCTAAAAAAGACTAGAGGG 0.358000 7 145 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415985 86415985 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:86415985G>A ENST00000361669.2 + 3 1976 c.877G>A c.(877-879)Gcc>Acc p.A293T GRM3_ENST00000439827.1_Missense_Mutation_p.A293T|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A291T|GRM3_ENST00000536043.1_Missense_Mutation_p.A165T NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 293 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCGCGCCAATGCCTCCTTCAC 0.672000 49 92 0 0 1 0 0 GABRR2 2570 broad.mit.edu 37 6 89967693 89967693 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:89967693C>A ENST00000402938.3 - 9 1227 c.1094G>T c.(1093-1095)tGc>tTc p.C365F GABRR2_ENST00000602399.1_Missense_Mutation_p.C390F P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 390 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TCCACACATGCACGGGAACTA 0.532000 6 25 2.7689e-08 3.02351e-08 1 1 0 KRT5 3852 broad.mit.edu 37 12 52913888 52913888 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:52913888G>T ENST00000252242.4 - 1 583 c.193C>A c.(193-195)Ctc>Atc p.L65I NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 65 Gly-rich.|Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGTTGTAGAGGCTCCGGCTG 0.642000 60 84 5.19286e-32 6.11556e-32 1 1 0 APP 351 broad.mit.edu 37 21 27284224 27284224 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr21:27284224T>C ENST00000358918.3 - 14 1937 c.1738A>G c.(1738-1740)Atg>Gtg p.M580V APP_ENST00000439274.2_Missense_Mutation_p.M524V|APP_ENST00000346798.3_Missense_Mutation_p.M580V|APP_ENST00000359726.3_Missense_Mutation_p.M524V|APP_ENST00000348990.5_Missense_Mutation_p.M505V|APP_ENST00000354192.3_Missense_Mutation_p.M449V|APP_ENST00000357903.3_Missense_Mutation_p.M561V|APP_ENST00000448388.2_Missense_Mutation_p.M470V|APP_ENST00000440126.3_Missense_Mutation_p.M556V NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 580 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) TCACTAATCATGTTGGCCAAG 0.443000 79 49 0 0 1 0 0 PPM1F 9647 broad.mit.edu 37 22 22279896 22279896 + Missense_Mutation SNP T T A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr22:22279896T>A ENST00000397495.4 - 7 1130 c.1031A>T c.(1030-1032)aAg>aTg p.K344M PPM1F_ENST00000263212.5_Intron|PPM1F_ENST00000407142.1_Intron|PPM1F_ENST00000538191.1_Intron P49593 PPM1F_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1F 0 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) AGGCCTGGGCTTCCGAGAGAC 0.632000 12 41 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53202524 53202524 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:53202524G>A ENST00000551956.1 - 5 1437 c.945C>T c.(943-945)taC>taT p.Y315Y KRT4_ENST00000458244.2_Silent_p.Y295Y|KRT4_ENST00000293774.4_Silent_p.Y389Y B4DRS2 B4DRS2_HUMAN keratin 4 315 keratin filament structural molecule activity p.Y389Y(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CAATCTCCTCGTACTGGGCAC 0.592000 29 121 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15723736 15723736 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:15723736A>G ENST00000380701.3 + 13 1811 c.1483A>G c.(1483-1485)Aat>Gat p.N495D CCDC171_ENST00000297641.3_Missense_Mutation_p.N495D NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 495 N -> I (in dbSNP:rs10962127). TCACACTAAAAATATAAAGGT 0.274000 18 32 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175140 143175140 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:143175140C>A ENST00000408916.1 + 1 175 c.175C>A c.(175-177)Cag>Aag p.Q59K EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 59 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CTTCTGCCTGCAGTTGGTTGG 0.567000 76 125 1.36236e-49 1.6314e-49 1 1 0 HIST1H4E 8367 broad.mit.edu 37 6 26205070 26205070 + Silent SNP G G A rs145407769 byFrequency TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:26205070G>A ENST00000360441.4 + 1 213 c.198G>A c.(196-198)gtG>gtA p.V66V NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 66 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.V66V(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) TGGAAAACGTGATTCGTGATG 0.567000 54 56 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46067594 46067594 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr4:46067594G>T ENST00000295452.4 - 4 496 c.329C>A c.(328-330)aCa>aAa p.T110K NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 110 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TATATCTATTGTATATTCCTA 0.274000 12 7 0.00010058 0.000103485 1 1 0 VEPH1 79674 broad.mit.edu 37 3 157178057 157178057 + Missense_Mutation SNP T T A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:157178057T>A ENST00000362010.2 - 4 749 c.442A>T c.(442-444)Atg>Ttg p.M148L VEPH1_ENST00000392833.2_Missense_Mutation_p.M148L|VEPH1_ENST00000543418.1_Missense_Mutation_p.M148L|VEPH1_ENST00000494677.1_Missense_Mutation_p.M148L|VEPH1_ENST00000468233.1_Missense_Mutation_p.M148L|VEPH1_ENST00000537559.1_Missense_Mutation_p.M148L|VEPH1_ENST00000392832.2_Missense_Mutation_p.M148L NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 148 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TAGTTAGACATATTCCTGCAC 0.463000 44 148 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 52 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145622721 145622721 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr8:145622721C>T ENST00000349769.3 - 22 2460 c.2366G>A c.(2365-2367)cGg>cAg p.R789Q NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 789 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding p.R789L(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GCCATTCTCCCGCACCAGCAG 0.672000 15 19 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12880597 12880597 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:12880597G>T ENST00000155926.4 + 3 2128 c.709G>T c.(709-711)Gtg>Ttg p.V237L TRIB2_ENST00000381465.2_Missense_Mutation_p.V101L NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 237 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGCAGCCGACGTGTGGAGCCT 0.587000 32 53 1.74807e-11 1.93852e-11 1 1 0 DSEL 92126 broad.mit.edu 37 18 65178376 65178376 + Missense_Mutation SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr18:65178376A>C ENST00000310045.7 - 2 4973 c.3500T>G c.(3499-3501)aTa>aGa p.I1167R CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1157 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) GGCAAACAATATTTGGTTTAA 0.363000 24 70 0 0 1 0 0 FAM189A2 9413 broad.mit.edu 37 9 72003134 72003134 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:72003134C>T ENST00000257515.8 + 10 1337 c.917C>T c.(916-918)gCa>gTa p.A306V FAM189A2_ENST00000303068.7_Missense_Mutation_p.A141V|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A306V|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000377216.3_Missense_Mutation_p.A93V NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 306 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GATCTGGCTGCAGTGACTCTG 0.532000 17 35 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1271319 1271319 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:1271319G>A ENST00000308624.5 + 14 1389 c.1260G>A c.(1258-1260)acG>acA p.T420T SNTG2_ENST00000407292.1_Silent_p.T293T NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 420 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AAAGAGCCACGTTCATGGAAG 0.527000 11 41 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78205149 78205149 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr14:78205149C>A ENST00000261531.7 - 5 567 c.505G>T c.(505-507)Gac>Tac p.D169Y SNW1_ENST00000555761.1_Missense_Mutation_p.D169Y|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.D7Y NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 169 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GCCAATTTGTCAGCTGCTCGA 0.423000 12 130 9.31168e-06 9.829e-06 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 132193289 132193289 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:132193289A>G ENST00000359827.3 - 2 1126 c.164T>C c.(163-165)gTg>gCg p.V55A PLXNA4_ENST00000378539.5_Missense_Mutation_p.V55A|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V55A|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V55A Q9HCM2 PLXA4_HUMAN plexin A4 55 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTCATCCACCACCAGGTGATT 0.587000 12 122 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79698545 79698545 + Missense_Mutation SNP T T A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chrX:79698545T>A ENST00000538312.1 + 5 841 c.507T>A c.(505-507)ttT>ttA p.F169L FAM46D_ENST00000308293.5_Missense_Mutation_p.F169L NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 169 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 GACGGCAGTTTGAATTTAGTG 0.378000 50 16 0 0 1 0 0 ADAM8 101 broad.mit.edu 37 10 135086790 135086790 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr10:135086790G>A ENST00000445355.3 - 6 591 c.541C>T c.(541-543)Cgg>Tgg p.R181W ADAM8_ENST00000485491.2_Missense_Mutation_p.R142W|ADAM8_ENST00000415217.3_Missense_Mutation_p.R181W NM_001109.4 NP_001100.3 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 142 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) GCTGCCGTCCGGGGTCCCAGG 0.711000 8 6 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60695932 60695932 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:60695932C>G ENST00000335712.6 - 3 649 c.422G>C c.(421-423)cGt>cCt p.R141P BCL11A_ENST00000356842.4_Missense_Mutation_p.R141P|BCL11A_ENST00000359629.5_Missense_Mutation_p.R141P|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 141 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ATGTGCAGAACGAGGGGAGGA 0.473000 T IGH@ B-CLL 10 65 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118623574 118623574 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:118623574C>T ENST00000354673.2 - 8 1152 c.772G>A c.(772-774)Gca>Aca p.A258T IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000441144.2_Missense_Mutation_p.A234T|IGSF11_ENST00000393775.2_Missense_Mutation_p.A259T|IGSF11_ENST00000489689.1_Missense_Mutation_p.A235T|IGSF11_ENST00000425327.2_Missense_Mutation_p.A258T NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 259 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AAAATTAGTGCAATGCAAAAA 0.338000 6 378 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28766125 28766125 + Nonsense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:28766125G>A ENST00000422425.2 + 14 1003 c.959G>A c.(958-960)tGg>tAg p.W320* PLB1_ENST00000327757.5_Nonsense_Mutation_p.W309* NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 309 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGGCATCTCTGGAATAGGATG 0.617000 11 11 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23543308 23543308 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:23543308G>T ENST00000300619.7 - 4 2678 c.2473C>A c.(2473-2475)Ccc>Acc p.P825T ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P793T NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 825 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CATTTGTAGGGTTTCTCTCCA 0.403000 17 71 6.94344e-10 7.67008e-10 1 1 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217505 26217505 + Silent SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:26217505G>C ENST00000303910.2 + 1 341 c.303G>C c.(301-303)gtG>gtC p.V101V NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 101 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) TAGGTCGCGTGACCATCGCGC 0.577000 39 48 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54135361 54135361 + Translation_Start_Site SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:54135361A>C ENST00000376650.1 + 1 52 c.1A>C c.(1-3)Atg>Ctg p.M1L NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 1 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) GGATTAGAAGATGCCAGGCTC 0.502000 69 118 0 0 1 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405939 20405939 + RNA SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:20405939G>A ENST00000580113.1 - 0 924 TCCAGGCCCTGGAACACCCTC 0.582000 9 21 0 0 1 0 0 RNFT1 51136 broad.mit.edu 37 17 58040503 58040503 + Silent SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:58040503A>G ENST00000305783.8 - 2 254 c.199T>C c.(199-201)Ttg>Ctg p.L67L RNFT1_ENST00000442346.2_Silent_p.L30L|RP11-178C3.1_ENST00000591035.1_Intron NM_016125.3 NP_057209.3 Q5M7Z0 RNFT1_HUMAN ring finger protein, transmembrane 1 67 integral to membrane zinc ion binding large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) TCTCCTGTCAATCTTGTGTGG 0.468000 39 84 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88386464 88386464 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:88386464T>C ENST00000418177.2 - 4 1386 c.1019A>G c.(1018-1020)tAt>tGt p.Y340C GRM5_ENST00000305432.5_Missense_Mutation_p.Y340C|GRM5_ENST00000305447.4_Missense_Mutation_p.Y340C|GRM5_ENST00000455756.2_Missense_Mutation_p.Y340C|GRM5_ENST00000393297.1_Missense_Mutation_p.Y340C P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 340 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTTCAGATAATAATCATCAAA 0.478000 5 51 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24288852 24288852 + Missense_Mutation SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:24288852A>T ENST00000357002.4 + 2 256 c.141A>T c.(139-141)agA>agT p.R47S ZNF254_ENST00000339642.6_Missense_Mutation_p.R47S|ZNF254_ENST00000342944.6_Intron NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 47 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AGAACTACAGAAACCTGGCCT 0.368000 43 189 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872781 55872781 + Missense_Mutation SNP C C A rs137892845 TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:55872781C>A ENST00000313503.1 + 1 263 c.263C>A c.(262-264)aCt>aAt p.T88N NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T88I(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) AACTTACTGACTTCCAACTAT 0.428000 HNSCC(53;0.14) 35 301 2.28855e-06 2.45201e-06 1 1 0 PSG1 5669 broad.mit.edu 37 19 43376172 43376172 + Silent SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:43376172G>T ENST00000244296.2 - 3 593 c.456C>A c.(454-456)tcC>tcA p.S152S PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Silent_p.S152S|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Silent_p.S152S|PSG1_ENST00000595356.1_Silent_p.S152S NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) AGTTGCTGCTGGAGATGGAGG 0.507000 50 303 9.52127e-25 1.11212e-24 1 1 0 ZNF148 7707 broad.mit.edu 37 3 124998000 124998000 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:124998000T>C ENST00000360647.4 - 6 1036 c.551A>G c.(550-552)tAt>tGt p.Y184C ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Missense_Mutation_p.I8V|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000485866.1_Missense_Mutation_p.Y184C|ZNF148_ENST00000484491.1_Missense_Mutation_p.Y184C NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 184 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CTGTAAGTGATAGTTCGTTCT 0.358000 82 139 0 0 1 0 0 ZNF354C 30832 broad.mit.edu 37 5 178505879 178505879 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:178505879C>T ENST00000315475.6 + 5 752 c.446C>T c.(445-447)tCg>tTg p.S149L NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) ATGATAGATTCGCATGAGAAA 0.393000 26 88 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39186697 39186697 + Missense_Mutation SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:39186697A>G ENST00000273153.5 - 3 433 c.256T>C c.(256-258)Ttt>Ctt p.F86L CSRNP1_ENST00000514182.1_Missense_Mutation_p.F86L NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 86 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 ATCCCATCAAAGGCTACACGG 0.607000 18 37 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41330595 41330595 + Nonsense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:41330595G>A ENST00000551295.2 + 10 1115 c.998G>A c.(997-999)tGg>tAg p.W333* CNTN1_ENST00000547702.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.W333*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.W322*|CNTN1_ENST00000360099.3_Nonsense_Mutation_p.W333* NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 333 Ig-like C2-type 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTCCCTGAGTGGGTAGAACAC 0.413000 17 95 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45658390 45658390 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr14:45658390C>T ENST00000267430.5 + 20 5250 c.5165C>T c.(5164-5166)cCa>cTa p.P1722L FANCM_ENST00000542564.2_Missense_Mutation_p.P1696L NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1722 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 CGTTCTACTCCAAGAGTTAAT 0.413000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 53 194 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 6 338 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 54 0 0 1 0 0 ITM2A 9452 broad.mit.edu 37 X 78618173 78618173 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chrX:78618173G>C ENST00000434584.2 - 3 661 c.325C>G c.(325-327)Ctg>Gtg p.L109V ITM2A_ENST00000373298.2_Missense_Mutation_p.L153V|ITM2A_ENST00000469541.1_5'UTR NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 153 integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 AACAAGTCCAGGTAAGCAGTC 0.438000 27 5 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397279 57397279 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:57397279G>C ENST00000300101.2 - 2 1508 c.1423C>G c.(1423-1425)Cta>Gta p.L475V NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 TTCAAGTTTAGATGGTCAAGG 0.562000 9 53 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62285198 62285198 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:62285198G>C ENST00000378024.4 - 5 16965 c.16691C>G c.(16690-16692)cCa>cGa p.P5564R AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5564 Gly-rich. nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTTGATTTTTGGGCCCTTCAA 0.517000 14 210 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156929861 156929861 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:156929861C>A ENST00000257527.4 - 12 1336 c.1258G>T c.(1258-1260)Ggg>Tgg p.G420W ADAM19_ENST00000394020.1_Missense_Mutation_p.G422W|ADAM19_ENST00000430702.2_Missense_Mutation_p.G153W|ADAM19_ENST00000517905.1_Missense_Mutation_p.G420W NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 420 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TACCCGTTCCCACACCTCCGG 0.532000 35 116 4.11147e-13 4.59518e-13 1 1 0 TRAPPC12 51112 broad.mit.edu 37 2 3392051 3392051 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:3392051G>T ENST00000324266.5 + 2 852 c.657G>T c.(655-657)ttG>ttT p.L219F TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L219F NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 219 binding GCCACTCCTTGGCCTCGGACT 0.706000 28 34 2.20474e-14 2.47382e-14 1 1 0 KBTBD12 166348 broad.mit.edu 37 3 127682212 127682212 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:127682212G>A ENST00000405109.1 + 5 2140 c.1673G>A c.(1672-1674)gGg>gAg p.G558E KBTBD12_ENST00000405256.1_Missense_Mutation_p.G558E|KBTBD12_ENST00000407609.3_Missense_Mutation_p.G165E|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.G133E Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 558 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 TATGTCTGCGGGGGATTCCAT 0.488000 8 33 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220813 118220813 + Missense_Mutation SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chrX:118220813A>T ENST00000402510.2 - 11 4379 c.4380T>A c.(4378-4380)aaT>aaA p.N1460K NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1460 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CATGCTGGTTATTATTACCAT 0.443000 20 36 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65026924 65026924 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr16:65026924G>C ENST00000394156.3 - 5 990 c.537C>G c.(535-537)atC>atG p.I179M CDH11_ENST00000268603.4_Missense_Mutation_p.I179M|CDH11_ENST00000566827.1_Missense_Mutation_p.I53M P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 179 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTGTCACCTGGATTACTGACG 0.368000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 30 59 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172166087 172166087 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:172166087G>A ENST00000241256.2 - 1 159 c.117C>T c.(115-117)ccC>ccT p.P39P GHSR_ENST00000427970.1_Silent_p.P39P NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 39 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCAGCGGCGCGGGGAAGAGCT 0.687000 5 82 0 0 1 0 0 BROX 148362 broad.mit.edu 37 1 222892303 222892303 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:222892303G>A ENST00000340934.5 + 3 544 c.138G>A c.(136-138)ctG>ctA p.L46L BROX_ENST00000539697.1_Silent_p.L46L|BROX_ENST00000537020.1_Silent_p.L46L NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing 46 membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 TCCTTGAACTGTTCACTGATT 0.358000 33 132 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70541831 70541831 + Silent SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:70541831T>C ENST00000310961.5 + 24 4480 c.4062T>C c.(4060-4062)taT>taC p.Y1354Y LRRC7_ENST00000035383.5_Silent_p.Y1396Y|LRRC7_ENST00000415775.2_Silent_p.Y680Y Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1396 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGCAGCCGTATGAAGGAAATA 0.542000 48 26 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20769240 20769240 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:20769240G>T ENST00000359062.3 + 4 1386 c.1346G>T c.(1345-1347)gGt>gTt p.G449V PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 449 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TCGGCCACAGGTCTACCCACC 0.562000 17 104 3.32936e-07 3.59419e-07 1 1 0 RAB5A 5868 broad.mit.edu 37 3 20017551 20017551 + Nonsense_Mutation SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:20017551A>T ENST00000273047.4 + 4 864 c.328A>T c.(328-330)Aga>Tga p.R110* RAB5A_ENST00000422242.1_Nonsense_Mutation_p.R96* NM_004162.4 NP_004153.2 P20339 RAB5A_HUMAN RAB5A, member RAS oncogene family 110 blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GDP binding|GTP binding|GTPase activity lung(1)|urinary_tract(1) 2 GTCCTTTGCAAGAGCAAAAAA 0.403000 16 31 0 0 1 0 0 MIR17HG 407975 broad.mit.edu 37 13 92003611 92003611 + RNA SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr13:92003611A>G ENST00000385233.2 + 0 44 NR_029508.1 GTGTTTCTGTATGGTATTGCA 0.408000 125 43 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612343 53612343 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:53612343G>C ENST00000455735.2 - 7 1419 c.1099C>G c.(1099-1101)Cag>Gag p.Q367E ZNF415_ENST00000601493.1_Missense_Mutation_p.Q89E|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q331E|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q319E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q367E|ZNF415_ENST00000440291.1_Missense_Mutation_p.Q306E|ZNF415_ENST00000500065.4_Missense_Mutation_p.Q319E Q09FC8 ZN415_HUMAN zinc finger protein 415 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) TGAGTTTTCTGATGTAGTGCA 0.418000 28 111 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25119107 25119107 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr22:25119107T>C ENST00000332271.5 - 19 2790 c.2374A>G c.(2374-2376)Agg>Ggg p.R792G PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674G|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674G NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 792 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CATTCATTCCTAGTCAACTCT 0.343000 4 149 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43147662 43147662 + RNA SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr8:43147662C>T ENST00000522175.2 + 0 37 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CTGGCTGCCTCCCCTATGAAG 0.562000 25 48 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617831 100617831 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr13:100617831G>A ENST00000267294.4 - 2 2025 c.1792C>T c.(1792-1794)Ccc>Tcc p.P598S NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 598 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGGGACAAGGGGGCGCCCACT 0.612000 25 92 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793208 53793208 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:53793208C>T ENST00000426466.1 - 1 1667 c.420G>A c.(418-420)ggG>ggA p.G140G NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 140 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TATAGTTGCTCCCAGATGTTT 0.378000 38 218 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38103844 38103844 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:38103844G>A ENST00000592533.1 + 5 1995 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K ZNF540_ENST00000316433.4_Missense_Mutation_p.E555K|ZNF540_ENST00000589117.1_Missense_Mutation_p.E523K|ZNF540_ENST00000343599.5_Missense_Mutation_p.E555K NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGACTGTAAAGAATGTGGGAA 0.388000 9 162 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160504 38160504 + Silent SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:38160504T>C ENST00000358582.4 - 4 1294 c.546A>G c.(544-546)tcA>tcG p.S182S ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Silent_p.S182S NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 GAGCAATTATTGAATGCTTTG 0.378000 33 153 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50150067 50150067 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:50150067C>T ENST00000360565.3 + 6 582 c.458C>T c.(457-459)gCc>gTc p.A153V NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 153 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CGTCTCAGGGCCTGGAGGACG 0.632000 11 11 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137329 40137329 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:40137329G>C ENST00000278198.2 - 2 2477 c.514C>G c.(514-516)Cct>Gct p.P172A LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172A|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172A Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 172 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CGCAAAGAAGGAATTCTGTTA 0.428000 28 73 0 0 1 0 0 HS1BP3 64342 broad.mit.edu 37 2 20840568 20840568 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:20840568C>T ENST00000406618.3 - 3 591 c.571G>A c.(571-573)Gca>Aca p.A191T HS1BP3_ENST00000402541.1_Intron|HS1BP3_ENST00000304031.3_Intron Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 0 cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTCCTTCTGCCCACCATCCA 0.627000 7 11 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79634747 79634747 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:79634747C>A ENST00000376708.1 + 1 177 c.177C>A c.(175-177)aaC>aaA p.N59K NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 59 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 GCTGGCAGAACAGCCTGCGCC 0.612000 27 14 1.5548e-18 1.78677e-18 1 1 0 SALL3 27164 broad.mit.edu 37 18 76753744 76753744 + Nonsense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr18:76753744C>T ENST00000536229.3 + 1 2063 c.1354C>T c.(1354-1356)Cag>Tag p.Q452* SALL3_ENST00000537592.2_Nonsense_Mutation_p.Q585*|SALL3_ENST00000575389.2_Nonsense_Mutation_p.Q585* Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGAGTCCCCACAGTCGCTCCT 0.746000 3 17 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71619234 71619234 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr8:71619234C>T ENST00000408926.3 + 4 873 c.339C>T c.(337-339)ttC>ttT p.F113F XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.F113F NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 113 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) CTAGTAACTTCGTGGAAGAAC 0.358000 23 101 0 0 1 0 0 MOCS3 27304 broad.mit.edu 37 20 49575387 49575387 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr20:49575387C>T ENST00000244051.1 + 1 25 c.8C>T c.(7-9)tCc>tTc p.S3F NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 3 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 GCCATGGCTTCCCGGGAGGAG 0.522000 25 69 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150713811 150713811 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:150713811G>A ENST00000377974.2 - 11 2460 c.2385C>T c.(2383-2385)ctC>ctT p.L795L ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.L281L Q674R7 ATG9B_HUMAN autophagy related 9B 796 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) TGGAGGCAAGGAGGCTGGCTG 0.652000 11 47 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325430 31325430 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr18:31325430C>T ENST00000269197.5 + 12 5618 c.5618C>T c.(5617-5619)cCa>cTa p.P1873L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1873 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CACAGCCAGCCATTTAAGCAA 0.488000 129 123 0 0 1 0 0 CASD1 64921 broad.mit.edu 37 7 94176486 94176486 + Splice_Site SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:94176486A>T ENST00000297273.4 + 13 1999 c.1713_splice c.e13+1 p.Q571_splice NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 571 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GCATATTCTCAGGTTTGTACA 0.279000 54 95 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949798 45949798 + Missense_Mutation SNP C C A rs146216896 TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr21:45949798C>A ENST00000323084.4 - 5 738 c.673G>T c.(673-675)Gcc>Tcc p.A225S TSPEAR_ENST00000397916.1_Missense_Mutation_p.A157S NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 225 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CTTGGGGTGGCGTCTGAGCCC 0.672000 7 25 1.12685e-05 1.18071e-05 1 1 0 UBE3B 89910 broad.mit.edu 37 12 109921470 109921470 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:109921470C>T ENST00000342494.3 + 3 709 c.114C>T c.(112-114)gcC>gcT p.A38A UBE3B_ENST00000537063.1_Silent_p.A38A|UBE3B_ENST00000536398.1_Silent_p.A38A|UBE3B_ENST00000340074.5_Silent_p.A38A|UBE3B_ENST00000280774.5_Silent_p.A38A|UBE3B_ENST00000434735.2_Silent_p.A38A|UBE3B_ENST00000540230.1_Silent_p.A38A NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 38 IQ. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TGATCCAGGCCCATGTCCGGA 0.537000 46 94 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 93518618 93518618 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr13:93518618G>A ENST00000377067.3 + 8 2017 c.1645G>A c.(1645-1647)Gga>Aga p.G549R NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 549 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AACAGGAGCAGGATGTGCAGT 0.438000 100 37 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44286580 44286580 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:44286580C>A ENST00000329255.3 - 4 1163 c.1060G>T c.(1060-1062)Ggg>Tgg p.G354W NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 354 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 CTGCCAGCCCCAGACACACTC 0.682000 24 39 8.24728e-16 9.29042e-16 1 1 0 RBPMS 11030 broad.mit.edu 37 8 30332300 30332300 + Silent SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr8:30332300G>C ENST00000320203.4 + 2 654 c.72G>C c.(70-72)cgG>cgC p.R24R RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.R24R|RBPMS_ENST00000538486.1_Silent_p.R24R|RBPMS_ENST00000287771.5_Silent_p.R24R|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.R24R|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000397323.4_Silent_p.R24R NM_006867.2 NP_006858.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 24 RRM. positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity p.R24R(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TCCAGGTCCGGACCCTATTTG 0.388000 112 60 0 0 1 0 0 ZNF471 57573 broad.mit.edu 37 19 57036677 57036677 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:57036677C>T ENST00000308031.5 + 5 1374 c.1241C>T c.(1240-1242)tCg>tTg p.S414L ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) ACCTTCAGCTCGGGTTCATCC 0.413000 46 96 0 0 1 0 0 RCVRN 5957 broad.mit.edu 37 17 9808174 9808174 + Silent SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr17:9808174G>C ENST00000226193.5 - 1 764 c.324C>G c.(322-324)ctC>ctG p.L108L NM_002903.2 NP_002894.1 P35243 RECO_HUMAN recoverin 108 EF-hand 3. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 CCACGTCGTAGAGGGAGAAGG 0.617000 26 97 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33565886 33565886 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:33565886C>T ENST00000389726.3 + 1 2010 c.1886C>T c.(1885-1887)gCa>gTa p.A629V KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A629V|KIAA1549L_ENST00000321505.4_Intron NM_012194.2 NP_036326.2 KIAA1549-like TGGACAGGTGCAGCCACTAAT 0.507000 8 85 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47662745 47662745 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr21:47662745C>T ENST00000397708.1 - 26 5651 c.5397G>A c.(5395-5397)acG>acA p.T1799T MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.T1799T|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1799 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GCTCCTTCTGCGTCTGCAACC 0.393000 7 96 0 0 1 0 0 DUOXA2 405753 broad.mit.edu 37 15 45406917 45406917 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr15:45406917C>T ENST00000323030.5 + 1 399 c.114C>T c.(112-114)ttC>ttT p.F38F NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 38 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) CAGCAAGCTTCCTGCTCATCT 0.577000 27 72 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85428535 85428535 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:85428535C>T ENST00000354566.3 - 4 2631 c.2620G>A c.(2620-2622)Gta>Ata p.V874I SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389958.3_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.V552I|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000533892.1_5'UTR|SYTL2_ENST00000527523.1_Missense_Mutation_p.V504I|SYTL2_ENST00000359152.5_Intron|SYTL2_ENST00000524452.1_Missense_Mutation_p.V552I|SYTL2_ENST00000528231.1_Intron NM_206927.2 NP_996810.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 538 C2 2. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTTCTTGGTACGCATTCATTT 0.343000 38 95 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125149013 125149013 + Splice_Site SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:125149013T>C ENST00000362012.2 + 9 1301 c.e9+2 PTGS1_ENST00000540753.1_Intron|PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000223423.4_Intron NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) GCTGGCCGGGTAAGCCCcaga 0.562000 10 35 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 6030359 6030359 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:6030359G>A ENST00000327087.8 - 3 440 c.369C>T c.(367-369)tcC>tcT p.S123S ANO2_ENST00000356134.5_Silent_p.S123S|ANO2_ENST00000546188.1_Silent_p.S123S Q9NQ90 ANO2_HUMAN anoctamin 2 127 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCTCCCCATTGGAGACGATAG 0.627000 12 35 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33603218 33603218 + Translation_Start_Site SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr15:33603218G>A ENST00000389232.4 + 0 42 RYR3_ENST00000415757.3_De_novo_Start_OutOfFrame NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGCGCCGGAGGCTGGGGCACC 0.692000 11 10 0 0 1 0 0 HOXD3 3232 broad.mit.edu 37 2 177036642 177036642 + Silent SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:177036642C>A ENST00000468418.3 + 4 3029 c.939C>A c.(937-939)gcC>gcA p.A313A HOXD3_ENST00000249440.3_Silent_p.A313A|HOXD3_ENST00000410016.1_Silent_p.A313A P31249 HXD3_HUMAN homeobox D3 313 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) ACGGCCTGGCCGCCTACACGG 0.692000 5 24 0.014758 0.014915 1 1 0 ZNF415 55786 broad.mit.edu 37 19 53611915 53611915 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:53611915G>A ENST00000455735.2 - 7 1847 c.1527C>T c.(1525-1527)atC>atT p.I509I ZNF415_ENST00000601493.1_Silent_p.I231I|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.I473I|ZNF415_ENST00000243643.4_Silent_p.I461I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.I509I|ZNF415_ENST00000440291.1_Silent_p.I448I|ZNF415_ENST00000500065.4_Silent_p.I461I Q09FC8 ZN415_HUMAN zinc finger protein 415 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) CTCCAGTATGGATGACCTGAT 0.438000 63 310 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112481476 112481476 + Nonsense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:112481476C>A ENST00000261745.4 - 18 2451 c.2203G>T c.(2203-2205)Gag>Tag p.E735* NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 735 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AGGGTTGCCTCCAGCTGTTGA 0.433000 69 107 4.83677e-39 5.74367e-39 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152757155 152757155 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:152757155G>C ENST00000367255.5 - 33 4832 c.4231C>G c.(4231-4233)Caa>Gaa p.Q1411E SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1401E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1411E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1477E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1418E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1411E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1411E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1411 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCTTATTTTGGGGCCCAAGC 0.403000 HNSCC(10;0.0054) 35 66 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99567930 99567930 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:99567930G>A ENST00000331335.5 - 5 3060 c.2590C>T c.(2590-2592)Ccc>Tcc p.P864S FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440S|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P864S|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624S NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 864 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TTCATCCAGGGAATCCATAGC 0.463000 50 239 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 73006752 73006752 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr14:73006752G>A ENST00000553525.1 + 17 1895 c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K RGS6_ENST00000556437.1_Missense_Mutation_p.E458K|RGS6_ENST00000402788.2_Intron|RGS6_ENST00000553530.1_Intron|RGS6_ENST00000406236.4_Missense_Mutation_p.E458K|RGS6_ENST00000554782.1_Missense_Mutation_p.E319K|RGS6_ENST00000555571.1_Intron|RGS6_ENST00000343854.6_Missense_Mutation_p.E421K|RGS6_ENST00000407322.4_Missense_Mutation_p.E458K|RGS6_ENST00000434263.2_Missense_Mutation_p.E389K|RGS6_ENST00000404301.2_Missense_Mutation_p.E458K NM_001204424.1 NP_001191353.1 P49758 RGS6_HUMAN regulator of G-protein signaling 6 456 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CCTAAAGCCAGAAAGTGAGCA 0.398000 9 13 0 0 1 0 0 SRRM3 222183 broad.mit.edu 37 7 75894094 75894094 + Missense_Mutation SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:75894094C>A ENST00000388802.4 + 9 895 c.686C>A c.(685-687)tCc>tAc p.S229Y SRRM3_ENST00000326382.8_Missense_Mutation_p.S229Y serine/arginine repetitive matrix 3 NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 TCTCGAAGCTCCAAGTGCAAA 0.572000 11 74 9.05144e-12 1.00768e-11 1 1 0 LAMA3 3909 broad.mit.edu 37 18 21451526 21451526 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr18:21451526G>T ENST00000313654.9 + 38 5140 c.4899G>T c.(4897-4899)gaG>gaT p.E1633D LAMA3_ENST00000399516.3_Missense_Mutation_p.E1633D NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1633 Laminin IV type A. 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) CCCTGAGCGAGGTGGGGCTAG 0.577000 6 39 5.18039e-06 5.509e-06 1 1 0 OR10J1 26476 broad.mit.edu 37 1 159410019 159410019 + Silent SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:159410019G>T ENST00000423932.3 + 1 508 c.471G>T c.(469-471)ctG>ctT p.L157L RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 157 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) AACTTGTCCTGGGGGCCTGCA 0.498000 100 95 4.60726e-43 5.49401e-43 1 1 0 SIAH2 6478 broad.mit.edu 37 3 150460311 150460311 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:150460311G>T ENST00000312960.3 - 2 1119 c.592C>A c.(592-594)Ctt>Att p.L198I NM_005067.5 NP_005058.3 O43255 SIAH2_HUMAN siah E3 ubiquitin protein ligase 2 198 SBD. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1) 16 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCTCCCTGAAGGGTGGTAATG 0.537000 59 103 2.37032e-18 2.71302e-18 1 1 0 LAMC1 3915 broad.mit.edu 37 1 183095268 183095268 + Missense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:183095268G>A ENST00000258341.4 + 16 3072 c.2815G>A c.(2815-2817)Gcc>Acc p.A939T LAMC1_ENST00000466964.1_3'UTR NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 939 Laminin EGF-like 10. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGACTGCCATGCCTTGGGCTC 0.488000 21 50 0 0 1 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76021343 76021343 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:76021343C>T ENST00000275560.3 - 10 1696 c.1349G>A c.(1348-1350)gGa>gAa p.G450E SRCRB4D_ENST00000492979.2_5'UTR NM_080744.1 NP_542782.1 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain containing, group B (4 domains) 450 extracellular region|membrane scavenger receptor activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 GACTTGCAGTCCCAGCTCCTC 0.607000 3 12 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109088522 109088522 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:109088522C>T ENST00000309863.6 + 6 3451 c.2737C>T c.(2737-2739)Cta>Tta p.L913L NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 913 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AAAGCCACTACTAGAACAAAA 0.289000 47 178 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848402 48848402 + Missense_Mutation SNP T T G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr2:48848402T>G ENST00000394754.1 + 5 2446 c.2332T>G c.(2332-2334)Ttg>Gtg p.L778V STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L778V|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.L74V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L778V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L778V|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L40V NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 778 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCCGCACAGCTTGCACCAAAC 0.403000 24 116 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897937 182897937 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:182897937G>A ENST00000328913.3 - 28 3324 c.3027C>T c.(3025-3027)agC>agT p.S1009S MCF2L2_ENST00000473233.1_Silent_p.S1009S NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 1009 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TAAACTCCCTGCTGGAGCAGC 0.547000 54 450 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47662744 47662744 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr21:47662744G>T ENST00000397708.1 - 26 5652 c.5398C>A c.(5398-5400)Cag>Aag p.Q1800K MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q1800K|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1800 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AGCTCCTTCTGCGTCTGCAAC 0.393000 7 96 0.00198382 0.00202648 1 1 0 KIAA0922 23240 broad.mit.edu 37 4 154557505 154557505 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr4:154557505C>T ENST00000409959.3 + 35 4659 c.4610C>T c.(4609-4611)tCc>tTc p.S1537F KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1453F|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S1536F NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 1536 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CTTTTTGGTTCCATCTGGGCC 0.463000 31 60 0 0 1 0 0 TFEB 7942 broad.mit.edu 37 6 41653976 41653976 + Missense_Mutation SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:41653976C>G ENST00000597468.1 + 1 13 c.13C>G c.(13-15)Ctg>Gtg p.L5V TFEB_ENST00000420312.1_Splice_Site|TFEB_ENST00000373033.1_Splice_Site|TFEB_ENST00000358871.2_Splice_Site|TFEB_ENST00000403298.4_Splice_Site|TFEB_ENST00000230323.4_Splice_Site GCGCACGTCCCTGCAGCAGCA 0.562000 31 35 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60609627 60609627 + Silent SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:60609627G>T ENST00000227520.5 + 1 84 c.30G>T c.(28-30)cgG>cgT p.R10R RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 10 interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 GCAGCCGACGGCTGGGAGGCC 0.642000 5 12 1 1 1 1 0 TMEM200A 114801 broad.mit.edu 37 6 130762696 130762696 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:130762696G>C ENST00000392429.1 + 2 3507 c.1129G>C c.(1129-1131)Gct>Cct p.A377P TMEM200A_ENST00000296978.3_Missense_Mutation_p.A377P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.A377P NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 377 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GTCTCCTGGGGCTGCCAGAAG 0.517000 24 53 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16435982 16435982 + Missense_Mutation SNP G G C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:16435982G>C ENST00000380672.4 - 6 2267 c.2210C>G c.(2209-2211)tCc>tGc p.S737C BNC2_ENST00000380666.2_Missense_Mutation_p.S737C|BNC2_ENST00000545497.1_Missense_Mutation_p.S642C|BNC2_ENST00000380667.2_Missense_Mutation_p.S670C NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 737 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CCCTTCCATGGATTCCTCGCC 0.522000 5 74 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641825 57641825 + Silent SNP C C A rs35663514 TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:57641825C>A ENST00000254181.4 + 4 2236 c.1782C>A c.(1780-1782)ccC>ccA p.P594P USP29_ENST00000598197.1_Silent_p.P594P NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 594 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGTTCTACCCGTTGAACCAG 0.488000 37 83 1.57351e-24 1.83041e-24 1 1 0 NLRC3 197358 broad.mit.edu 37 16 3613383 3613383 + RNA SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr16:3613383C>T ENST00000301749.7 - 0 1960 NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GACAAGAGGCCGGAGAGGAAG 0.692000 6 2 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401413 140401413 + Silent SNP C C A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:140401413C>A ENST00000286349.3 + 2 642 c.451C>A c.(451-453)Cgg>Agg p.R151R NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 151 intracellular zinc ion binding p.R151R(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CATGTGCAGCCGGCTGCGCCT 0.592000 6 153 8.12818e-05 8.39323e-05 1 1 0 ZCRB1 85437 broad.mit.edu 37 12 42707675 42707675 + Splice_Site SNP C C G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:42707675C>G ENST00000266529.3 - 6 630 c.e6+1 PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Splice_Site NM_033114.3 NP_149105.3 Q8TBF4 ZCRB1_HUMAN zinc finger CCHC-type and RNA binding motif 1 mRNA processing nucleoplasm|U12-type spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2) 8 all_cancers(12;0.000348)|Breast(8;0.221) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0689) AATATACATACATTTCTTCTT 0.323000 26 40 0 0 1 0 0 ELOVL2 54898 broad.mit.edu 37 6 10984106 10984106 + Nonsense_Mutation SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr6:10984106G>A ENST00000354666.3 - 8 882 c.799C>T c.(799-801)Caa>Taa p.Q267* NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 267 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) GGTGGCTCTTGCATATCTTTC 0.353000 14 73 0 0 1 0 0 RNMT 8731 broad.mit.edu 37 18 13737060 13737060 + Missense_Mutation SNP T T G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr18:13737060T>G ENST00000383314.2 + 5 845 c.605T>G c.(604-606)tTg>tGg p.L202W RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000592764.1_Missense_Mutation_p.L202W|RNMT_ENST00000543302.2_Missense_Mutation_p.L202W|RNMT_ENST00000262173.3_Missense_Mutation_p.L202W|RNMT_ENST00000589866.1_Missense_Mutation_p.L202W O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 202 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 ATCACTGTTTTGGACCTGGGA 0.343000 34 92 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963958 88963958 + Silent SNP G G A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:88963958G>A ENST00000333190.4 + 4 2271 c.1662G>A c.(1660-1662)ttG>ttA p.L554L NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 554 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AATATAATTTGGACTACAGTG 0.348000 HNSCC(36;0.09) 35 104 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38506107 38506107 + Silent SNP A A G TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:38506107A>G ENST00000263409.4 - 9 1353 c.1191T>C c.(1189-1191)ttT>ttC p.F397F LIFR_ENST00000453190.2_Silent_p.F397F|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 397 Fibronectin type-III 2. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GAAGCATTTGAAATAATAATT 0.274000 T PLAG1 salivary adenoma 10 275 0 0 1 0 0 PSMF1 9491 broad.mit.edu 37 20 1145041 1145041 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr20:1145041C>T ENST00000335877.6 + 6 861 c.685C>T c.(685-687)Ccg>Tcg p.P229S PSMF1_ENST00000246015.4_Missense_Mutation_p.P229S|PSMF1_ENST00000381898.4_Missense_Mutation_p.P141S|PSMF1_ENST00000438768.2_Missense_Mutation_p.P167S|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.P229S NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 229 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 CTCAGGCCTCCCGAACCGACT 0.582000 68 451 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294715 102294715 + RNA SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr15:102294715C>T ENST00000561463.1 + 0 2761 AGCAGGCAGACCAAGGAGTTC 0.587000 5 38 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531027 84531027 + RNA SNP A A T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr9:84531027A>T ENST00000527857.1 + 0 1049 NR_026851.1 GTTCTGGTGGATCATCCACAT 0.478000 4 6 0 0 1 0 0 DENND1B 163486 broad.mit.edu 37 1 197643257 197643257 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:197643257C>T ENST00000235453.4 - 5 416 c.139G>A c.(139-141)Gtt>Att p.V47I DENND1B_ENST00000367396.3_Missense_Mutation_p.V57I|DENND1B_ENST00000400967.2_Missense_Mutation_p.V47I Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 57 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 TACCTTTCAACGTCAAAGGGA 0.264000 18 16 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54081126 54081126 + Missense_Mutation SNP T T A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:54081126T>A ENST00000253144.9 + 7 2645 c.1312T>A c.(1312-1314)Tcc>Acc p.S438T ZNF331_ENST00000511154.1_Missense_Mutation_p.S438T|ZNF331_ENST00000411977.2_Missense_Mutation_p.S438T|ZNF331_ENST00000512387.1_Missense_Mutation_p.S438T|ZNF331_ENST00000449416.1_Missense_Mutation_p.S438T|ZNF331_ENST00000513999.1_Missense_Mutation_p.S438T|ZNF331_ENST00000511593.2_Missense_Mutation_p.S438T NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TGGGGCGAAATCCTACGAATG 0.488000 T ? follicular thyroid adenoma 18 32 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131830041 131830041 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:131830041G>T ENST00000359827.3 - 29 6024 c.5062C>A c.(5062-5064)Ctg>Atg p.L1688M PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1688M Q9HCM2 PLXA4_HUMAN plexin A4 1688 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AACTTCTGCAGTGTGCCCTGG 0.547000 30 60 3.99451e-17 4.5356e-17 1 1 0 DCAF8L1 139425 broad.mit.edu 37 X 27997958 27997958 + Silent SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chrX:27997958G>T ENST00000441525.1 - 1 1608 c.1494C>A c.(1492-1494)acC>acA p.T498T NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 498 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CTAGGCCACTGGTCGCCAACA 0.493000 11 24 0.00829132 0.00840934 1 1 0 PLEKHS1 79949 broad.mit.edu 37 10 115534704 115534704 + Missense_Mutation SNP G G T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr10:115534704G>T ENST00000354462.3 + 3 289 c.131G>T c.(130-132)tGt>tTt p.C44F PLEKHS1_ENST00000369309.1_Missense_Mutation_p.C114F|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.C300F|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.C212F|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.C294F pleckstrin homology domain containing, family S member 1 ATTGATTGGTGTCTTTCCCCT 0.498000 14 76 6.31663e-08 6.87114e-08 1 1 0 RUNDC3B 154661 broad.mit.edu 37 7 87399965 87399965 + Missense_Mutation SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr7:87399965C>T ENST00000338056.3 + 8 1160 c.749C>T c.(748-750)aCt>aTt p.T250I RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T233I|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.T233I NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 250 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) GAAAGCAGTACTCCAGAGAAT 0.413000 24 34 0 0 1 0 0 RP13-221M14.3 0 broad.mit.edu 37 1 13164130 13164131 + RNA INS - - A TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr1:13164130_13164131insA ENST00000434606.1 - 0 284 TTTACTGTAACAAAAAAAAAAG 0.515 4 9 --- --- --- --- GLB1 2720 broad.mit.edu 37 3 33118660 33118660 + Frame_Shift_Del DEL T T - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr3:33118660delT ENST00000445488.2 - 2 205 c.145delA c.(145-147)gafs p.R49fs GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron P16278 BGAL_HUMAN galactosidase, beta 1 25 R -> C (in GM1G1).|R -> H (in GM1G3). carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) TTGGTACCTCTTTTGTGAAGC 0.488 2 4 --- --- --- --- NDST4 64579 broad.mit.edu 37 4 115749064 115749064 + Frame_Shift_Del DEL G G - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr4:115749064delG ENST00000264363.2 - 14 3205 c.2527delC c.(2527-2529)gafs p.R843fs NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 843 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTATGATCTCGGTAGTAATTA 0.408 36 51 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 7 90 --- --- --- --- CARD6 84674 broad.mit.edu 37 5 40843385 40843406 + Frame_Shift_Del DEL CACTTGGATTTGGAAACCTCTG CACTTGGATTTGGAAACCTCTG - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr5:40843385_40843406delCACTTGGATTTGGAAACCTCTG ENST00000254691.5 + 2 614_635 c.415_436delCACTTGGATTTGGAAACCTCTG c.(415-438)agfs p.HLDLETSE139fs CARD6_ENST00000381677.3_Frame_Shift_Del_p.HLDLETSE139fs NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 139 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TGAGAAGGAACACTTGGATTTGGAAACCTCTGAGTTTTTCAG 0.414 17 148 --- --- --- --- RPL10AP3 137107 broad.mit.edu 37 8 34180668 34180668 + RNA DEL C C - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr8:34180668delC ENST00000522460.1 + 0 282 ACAGCCACAGCCAGAGGTAAC 0.453 8 14 --- --- --- --- AP003068.18 0 broad.mit.edu 37 11 64943050 64943050 + RNA DEL T T - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:64943050delT ENST00000534819.1 - 0 891 gcccggctaattttttttttg 0.522 2 4 --- --- --- --- SIDT2 51092 broad.mit.edu 37 11 117049982 117049982 + Translation_Start_Site DEL G G - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:117049982delG ENST00000324225.4 + 0 534 SIDT2_ENST00000431081.2_Start_Codon_Del NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) CCGGGGCCATGTTCGCTCTGG 0.697 15 47 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900938 123900938 + Frame_Shift_Del DEL A A - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr11:123900938delA ENST00000431524.1 + 1 642 c.609delA c.(607-609)ggfs p.G203fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGACTGTTGGAATAGTGGCCT 0.537 38 121 --- --- --- --- KRT72 140807 broad.mit.edu 37 12 52995193 52995193 + Frame_Shift_Del DEL C C - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr12:52995193delC ENST00000293745.2 - 1 129 c.44delG c.(43-45)gcfs p.G15fs KRT72_ENST00000354310.4_Frame_Shift_Del_p.G15fs|KRT72_ENST00000537672.2_Frame_Shift_Del_p.G15fs|KRT72_ENST00000398066.3_5'UTR NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 15 Gly-rich.|Head. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) ACCGCTGAAGCCCAGGCGCTC 0.701 2 4 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 3 3 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c267b1-0f58-40c1-a37e-32a6a08ca742 4a33b7ff-d353-4eb8-8829-99970bbd3d85 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 8 219 --- --- --- ---