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 TFAP2E 339488 broad.mit.edu 37 1 36054078 36054078 + Missense_Mutation SNP C C T rs138290823 TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr1:36054078C>T ENST00000373235.3 + 4 918 c.710C>T c.(709-711)aCg>aTg p.T237M NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 237 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TACAAGGTGACGGTGGGGGAG 0.642 8 79 --- --- --- --- ADORA3 140 broad.mit.edu 37 1 112042982 112042982 + Missense_Mutation SNP G G A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr1:112042982G>A ENST00000241356.4 - 2 952 c.547C>T c.(547-549)Ctc>Ttc p.L183F ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 183 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) ATCCAGGTGAGGAAGCTGAAG 0.423 32 79 --- --- --- --- ITGA10 8515 broad.mit.edu 37 1 145532146 145532146 + Nonsense_Mutation SNP C C T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr1:145532146C>T ENST00000369304.3 + 8 965 c.790C>T c.(790-792)Cga>Tga p.R264* ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R133*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R121* NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 264 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCATGGGGGCCGACCCGAGGC 0.547 10 64 --- --- --- --- CD1D 912 broad.mit.edu 37 1 158151249 158151249 + Silent SNP G G A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr1:158151249G>A ENST00000368171.3 + 3 565 c.66G>A c.(64-66)ccG>ccA p.P22P NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 22 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) TCCCAGTCCCGCAAAGGCTTT 0.587 4 270 --- --- --- --- GLUL 2752 broad.mit.edu 37 1 182355539 182355539 + Splice_Site SNP T T C TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr1:182355539T>C ENST00000311223.5 - 5 1225 c.e5-2 GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000331872.6_Splice_Site|GLUL_ENST00000491322.1_5'UTR NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) AATTGGTCTCTAGAAAAAAGA 0.463 22 90 --- --- --- --- PLXNA2 5362 broad.mit.edu 37 1 208218421 208218421 + Missense_Mutation SNP G G C TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr1:208218421G>C ENST00000367033.3 - 19 4387 c.3630C>G c.(3628-3630)caC>caG p.H1210Q NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1210 IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCATGACCTTGTGCTGCCCGG 0.567 12 30 --- --- --- --- GOLGB1 2804 broad.mit.edu 37 3 121417402 121417402 + Missense_Mutation SNP T T G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr3:121417402T>G ENST00000393667.3 - 13 2078 c.1968A>C c.(1966-1968)gaA>gaC p.E656D GOLGB1_ENST00000340645.5_Missense_Mutation_p.E651D NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 651 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTAAAGATATTTCCTCAGATG 0.408 22 79 --- --- --- --- EPHB3 2049 broad.mit.edu 37 3 184294719 184294719 + Missense_Mutation SNP C C T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr3:184294719C>T ENST00000330394.2 + 5 1554 c.1102C>T c.(1102-1104)Cgg>Tgg p.R368W EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 368 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CCTGGGTGGCCGGGATGACCT 0.587 4 122 --- --- --- --- SH3BP2 6452 broad.mit.edu 37 4 2822436 2822436 + Missense_Mutation SNP G G C TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr4:2822436G>C ENST00000356331.5 + 2 353 c.92G>C c.(91-93)gGc>gCc p.G31A SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G59A|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G31A NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 31 PH. signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) GCCAAGGCTGGCTACCTGCAC 0.617 Cherubism 5 47 --- --- --- --- NIPAL1 152519 broad.mit.edu 37 4 48027157 48027157 + Missense_Mutation SNP T T A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr4:48027157T>A ENST00000295461.5 + 2 185 c.119T>A c.(118-120)cTg>cAg p.L40Q NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 40 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 TCACAGCTGCTGGCTTCTCCT 0.438 8 69 --- --- --- --- C5orf51 285636 broad.mit.edu 37 5 41909968 41909968 + Missense_Mutation SNP G G C TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr5:41909968G>C ENST00000381647.2 + 3 347 c.328G>C c.(328-330)Gta>Cta p.V110L C5orf51_ENST00000505931.2_3'UTR NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 110 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 AGAAATTTTAGTAAAGGAAAA 0.323 3 50 --- --- --- --- PCDHA5 56143 broad.mit.edu 37 5 140202850 140202850 + Missense_Mutation SNP G G A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr5:140202850G>A ENST00000529859.1 + 1 1490 c.1490G>A c.(1489-1491)cGg>cAg p.R497Q PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGCGGCGGGTGGGCGAG 0.672 6 80 --- --- --- --- PCDHA5 56143 broad.mit.edu 37 5 140202971 140202971 + Silent SNP C C T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr5:140202971C>T ENST00000529859.1 + 1 1611 c.1611C>T c.(1609-1611)cgC>cgT p.R537R PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.R537R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.R537R NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCGCGCGCGACGCGGGCG 0.682 4 122 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64422100 64422100 + Missense_Mutation SNP A A G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr6:64422100A>G ENST00000262043.3 + 16 4956 c.4616A>G c.(4615-4617)gAa>gGa p.E1539G PHF3_ENST00000393387.1_Missense_Mutation_p.E1539G Q92576 PHF3_HUMAN PHD finger protein 3 1539 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAGTCAGCAGAAATAGAAACA 0.363 14 64 --- --- --- --- PGM3 5238 broad.mit.edu 37 6 83900533 83900533 + Missense_Mutation SNP G G A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr6:83900533G>A ENST00000513973.1 - 2 315 c.199C>T c.(199-201)Cct>Tct p.P67S PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.P67S NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 67 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) ATTACCTCAGGATTGTGGGAC 0.403 6 42 --- --- --- --- TAGAP 117289 broad.mit.edu 37 6 159463110 159463110 + Splice_Site SNP C C G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr6:159463110C>G ENST00000367066.3 - 5 646 c.315G>C c.(313-315)caG>caC p.Q105H RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105H|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_001278733.1|NM_054114.3 NP_001265662.1|NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 105 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GCACGCCTACCTGGATGGGTC 0.443 4 141 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82451834 82451834 + Missense_Mutation SNP A A T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr7:82451834A>T ENST00000333891.9 - 20 15105 c.14768T>A c.(14767-14769)gTg>gAg p.V4923E PCLO_ENST00000423517.2_Missense_Mutation_p.V4923E|PCLO_ENST00000426442.2_5'UTR NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAGTTGTTGCACGGCAGCTTC 0.507 4 148 --- --- --- --- NOS3 4846 broad.mit.edu 37 7 150704213 150704213 + Missense_Mutation SNP C C T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr7:150704213C>T ENST00000297494.3 + 17 2318 c.1961C>T c.(1960-1962)tCc>tTc p.S654F NOS3_ENST00000461406.1_Missense_Mutation_p.S448F NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 654 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGGCTCGGCTCCCGGGCATAC 0.687 5 177 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151836271 151836271 + Splice_Site SNP C C G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr7:151836271C>G ENST00000355193.2 - 58 14923 c.14705G>C c.(14704-14706)aGg>aCg p.R4902T KMT2C_ENST00000262189.6_Splice_Site_p.R4845T|KMT2C_ENST00000485655.2_Splice_Site_p.R50T lysine (K)-specific methyltransferase 2C GCTGTCTCACCTTGCGGGCCC 0.567 11 48 --- --- --- --- RRAGA 10670 broad.mit.edu 37 9 19050073 19050073 + Missense_Mutation SNP T T A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr9:19050073T>A ENST00000380527.1 + 1 702 c.416T>A c.(415-417)cTg>cAg p.L139Q NM_006570.4 NP_006561.1 Q7L523 RRAGA_HUMAN Ras-related GTP binding A 139 apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(1) 3 CAGCGTGACCTGATTTTTAAA 0.532 7 31 --- --- --- --- IFNA17 3451 broad.mit.edu 37 9 21227906 21227906 + Missense_Mutation SNP A A T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr9:21227906A>T ENST00000413767.2 - 1 315 c.267T>A c.(265-267)aaT>aaA p.N89K NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 89 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGCTGAAGAGATTGAAGGTCT 0.478 12 87 --- --- --- --- ST6GALNAC4 27090 broad.mit.edu 37 9 130670786 130670786 + Missense_Mutation SNP G G A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr9:130670786G>A ENST00000335791.5 - 6 1069 c.794C>T c.(793-795)gCa>gTa p.A265V ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A181V|ST6GALNAC4_ENST00000495983.1_5'UTR NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 265 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 CTGCTCGTGTGCCAGGTACAT 0.637 4 62 --- --- --- --- CUL2 8453 broad.mit.edu 37 10 35305223 35305223 + Missense_Mutation SNP C C G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr10:35305223C>G ENST00000374748.1 - 19 2097 c.1784G>C c.(1783-1785)aGt>aCt p.S595T CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T|CUL2_ENST00000374746.1_Missense_Mutation_p.S595T|CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T Q13617 CUL2_HUMAN cullin 2 595 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 CTCTTTATAACTGACAGTTTC 0.353 22 48 --- --- --- --- PKD2L1 9033 broad.mit.edu 37 10 102050257 102050257 + Missense_Mutation SNP A A G rs143580376 TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr10:102050257A>G ENST00000318222.3 - 13 2409 c.2027T>C c.(2026-2028)aTt>aCt p.I676T PKD2L1_ENST00000353274.3_Missense_Mutation_p.I676T|PKD2L1_ENST00000338519.3_Missense_Mutation_p.I601T NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 676 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TAGTTTCTCAATCTCAGTGTT 0.527 5 28 --- --- --- --- PPFIBP2 8495 broad.mit.edu 37 11 7662824 7662824 + Missense_Mutation SNP C C G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr11:7662824C>G ENST00000299492.4 + 16 1878 c.1490C>G c.(1489-1491)cCc>cGc p.P497R PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R NM_003621.3 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 497 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) AAACGGAATCCCAAAGGCATT 0.448 10 91 --- --- --- --- INTS5 80789 broad.mit.edu 37 11 62414787 62414787 + Missense_Mutation SNP G G A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr11:62414787G>A ENST00000330574.2 - 2 2817 c.2765C>T c.(2764-2766)cCg>cTg p.P922L NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 922 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 ACCCAGGGCCGGAGGCAGGAG 0.612 5 138 --- --- --- --- KRTAP5-9 3846 broad.mit.edu 37 11 71260209 71260209 + Missense_Mutation SNP T T G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr11:71260209T>G ENST00000528743.2 + 1 744 c.506T>G c.(505-507)aTc>aGc p.I169S NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 169 epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 CAGTGCAAGATCTGAGGCTCT 0.547 35 88 --- --- --- --- MTMR2 8898 broad.mit.edu 37 11 95595463 95595463 + Silent SNP A A G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr11:95595463A>G ENST00000393223.3 - 6 776 c.114T>C c.(112-114)taT>taC p.Y38Y MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Silent_p.Y110Y|MTMR2_ENST00000409459.1_Silent_p.Y38Y|MTMR2_ENST00000352297.7_Silent_p.Y38Y NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 110 Ser-rich. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AATATAACCTATAATTCGTGA 0.363 8 35 --- --- --- --- KDELC2 143888 broad.mit.edu 37 11 108357013 108357013 + Missense_Mutation SNP C C A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr11:108357013C>A ENST00000434945.2 - 2 689 c.387G>T c.(385-387)agG>agT p.R129S KDELC2_ENST00000323468.5_Missense_Mutation_p.R185S|KDELC2_ENST00000375648.1_Missense_Mutation_p.R129S Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 185 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) CATCCCCAAACCTTTTGGGGA 0.418 6 95 --- --- --- --- SP1 6667 broad.mit.edu 37 12 53776771 53776771 + Nonsense_Mutation SNP C C A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr12:53776771C>A ENST00000426431.2 + 3 1079 c.1019C>A c.(1018-1020)tCa>tAa p.S340* SP1_ENST00000327443.4_Nonsense_Mutation_p.S347* NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 347 Ser/Thr-rich.|Transactivation domain B (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) AGTGGATCATCAGGGACCAAC 0.498 3 34 --- --- --- --- TPH2 121278 broad.mit.edu 37 12 72372850 72372850 + Silent SNP C C T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr12:72372850C>T ENST00000333850.3 + 7 1065 c.924C>T c.(922-924)ccC>ccT p.P308P NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 308 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GCTCAGATCCCCTCTACACCC 0.532 10 123 --- --- --- --- IFT81 28981 broad.mit.edu 37 12 110618302 110618302 + Missense_Mutation SNP A A G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr12:110618302A>G ENST00000242591.5 + 12 1770 c.1264A>G c.(1264-1266)Aaa>Gaa p.K422E IFT81_ENST00000552912.1_Missense_Mutation_p.K422E NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 422 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 AGCTGAACTTAAAGCTGAATT 0.328 8 26 --- --- --- --- ACADS 35 broad.mit.edu 37 12 121164962 121164962 + Silent SNP G G A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr12:121164962G>A ENST00000242592.4 + 2 331 c.180G>A c.(178-180)gtG>gtA p.V60V ACADS_ENST00000411593.2_Silent_p.V60V NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 60 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) CAGCCCAGGTGGATAAGGAAC 0.562 20 121 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52902265 52902265 + Missense_Mutation SNP A A C TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr15:52902265A>C ENST00000261844.7 - 6 998 c.846T>G c.(844-846)caT>caG p.H282Q FAM214A_ENST00000546305.2_Missense_Mutation_p.H289Q NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 282 CACTTTTTGCATGTAACACAC 0.438 10 36 --- --- --- --- ST8SIA2 8128 broad.mit.edu 37 15 92977487 92977487 + Missense_Mutation SNP G G T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr15:92977487G>T ENST00000268164.3 + 3 409 c.172G>T c.(172-174)Gta>Tta p.V58L ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V37L NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 58 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) AGCTGAAGTTGTAATAAACGG 0.438 24 88 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30750172 30750172 + Silent SNP A A G TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr16:30750172A>G ENST00000262518.4 + 34 9196 c.8811A>G c.(8809-8811)agA>agG p.R2937R SRCAP_ENST00000344771.4_Silent_p.R2779R|SRCAP_ENST00000395059.2_Silent_p.R2875R NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2937 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGGAGAAAAGAAGGCGAGGAC 0.592 9 46 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30750173 30750173 + Silent SNP A A C TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr16:30750173A>C ENST00000262518.4 + 34 9197 c.8812A>C c.(8812-8814)Agg>Cgg p.R2938R SRCAP_ENST00000344771.4_Silent_p.R2780R|SRCAP_ENST00000395059.2_Silent_p.R2876R NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2938 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGAGAAAAGAAGGCGAGGACG 0.587 9 45 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696431 47696431 + Missense_Mutation SNP C C A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr17:47696431C>A ENST00000393331.3 - 7 862 c.392G>T c.(391-393)tGg>tTg p.W131L SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CTTGAATCCCCAGTCTTTGCC 0.453 Prostate(2;0.17) 35 101 --- --- --- --- SRSF1 6426 broad.mit.edu 37 17 56084419 56084419 + Missense_Mutation SNP A A T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr17:56084419A>T ENST00000582730.2 - 1 203 c.80T>A c.(79-81)aTc>aAc p.I27N SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N|SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|SRSF1_ENST00000258962.4_Missense_Mutation_p.I27N NM_001078166.1 NP_001071634.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 27 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTGGTTCGGATGTCTGGAGG 0.587 5 54 --- --- --- --- C18orf8 29919 broad.mit.edu 37 18 21083629 21083629 + Missense_Mutation SNP A A C TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr18:21083629A>C ENST00000269221.3 + 1 157 c.47A>C c.(46-48)cAg>cCg p.Q16P C18orf8_ENST00000590868.1_Missense_Mutation_p.Q16P NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 16 endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) CGGCCGGTGCAGTTCGAGAAG 0.731 4 46 --- --- --- --- ZNF606 80095 broad.mit.edu 37 19 58499976 58499976 + Silent SNP G G A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr19:58499976G>A ENST00000341164.4 - 5 911 c.291C>T c.(289-291)caC>caT p.H97H ZNF606_ENST00000536132.1_Silent_p.H7H NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 97 KRAB. 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) CAGAGAGCAGGTGACCATAGG 0.557 36 127 --- --- --- --- ZFP64 55734 broad.mit.edu 37 20 50769705 50769705 + Silent SNP A A T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr20:50769705A>T ENST00000216923.4 - 6 1375 c.1026T>A c.(1024-1026)ccT>ccA p.P342P ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.P288P|ZFP64_ENST00000477786.1_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 AGCACTTCTCAGGATGCTCCG 0.592 20 75 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099166 56099166 + Silent SNP T T C TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx bebc84b6-9179-420b-8207-858b999e8c0c 50b1e243-b45a-42a1-8692-b7ae5d51250f g.chr20:56099166T>C ENST00000608263.1 - 1 757 c.96A>G c.(94-96)aaA>aaG p.K32K CTCFL_ENST00000608440.1_Silent_p.K32K|CTCFL_ENST00000609232.1_Silent_p.K32K|CTCFL_ENST00000429804.3_Silent_p.K32K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000608425.1_Silent_p.K32K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000423479.3_Silent_p.K32K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Silent_p.K32K|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000481655.2_Silent_p.K32K|CTCFL_ENST00000371196.2_Silent_p.K32K NM_001269041.1 NP_001255970.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) ACACTCCGTCTTTTTCCTCCT 0.532 4 247 --- --- --- ---