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 GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks ref_context gc_content COSMIC_n_overlapping_mutations ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_Chromosome ESP_Position ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term HGNC_AccessionNumbers HGNC_CCDSIDs HGNC_Chromosome HGNC_DateModified HGNC_DateNameChanged HGNC_DateSymbolChanged HGNC_EnsemblGeneID HGNC_EnsemblIDsuppliedbyEnsembl HGNC_Genefamilydescription HGNC_HGNCID HGNC_LocusGroup HGNC_LocusType HGNC_NameSynonyms HGNC_OMIMIDsuppliedbyNCBI HGNC_PreviousNames HGNC_PreviousSymbols HGNC_PubmedIDs HGNC_RecordType HGNC_RefSeqsuppliedbyNCBI HGNC_Status HGNC_Synonyms HGNC_UCSCIDsuppliedbyUCSC HGNC_UniProtIDsuppliedbyUniProt HGNC_VEGAIDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change UniProt_alt_uniprot_accessions annotation_transcript build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript init_n_lod init_t_lod isArtifactMode n_alt_count n_ref_count oxoGCut pox pox_cutoff qox refseq_mrna_id t_alt_count t_lod_fstar t_ref_count tumor_f GNAQ 2776 broad.mit.edu hg19 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr9:80409488T>G ENST00000286548.4 - 5 848 c.626A>C c.(625-627)cAa>cCa p.Q209P GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 209 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CTCTGACCTTTGGCCCCCTAC 0.348 153 108.0 105.0 106.0 9 80409488 2203 4300 6503 SO:0001583 missense CCDS6658.1 9q21 2010-03-17 ENSG00000156052 ENSG00000156052 4390 protein-coding gene gene with protein product 600998 8825633 Standard NM_002072 Approved G-ALPHA-q, GAQ uc004akw.3 P50148 OTTHUMG00000020059 ENST00000286548.4:c.626A>C 9.37:g.80409488T>G ENSP00000286548:p.Gln209Pro O15108|Q13462|Q6NT27|Q92471|Q9BZB9 ENST00000286548.4 37 CCDS6658.1 . . . . . . . . . . T 25.2 4.614273 0.87359 . . ENSG00000156052 ENST00000286548;ENST00000397476 D;D 0.91237 -2.81;-2.81 5.69 5.69 0.88448 . 0.000000 0.85682 D 0.000000 D 0.97164 0.9073 H 0.97291 3.975 0.80722 D 1 D 0.76494 0.999 D 0.85130 0.997 D 0.98607 1.0661 10 0.87932 D 0 . 15.9502 0.79827 0.0:0.0:0.0:1.0 . 209 P50148 GNAQ_HUMAN P 209;7 ENSP00000286548:Q209P;ENSP00000443197:Q7P ENSP00000286548:Q209P Q - 2 0 GNAQ 79599308 1.000000 0.71417 0.999000 0.59377 0.995000 0.86356 8.040000 0.89188 2.167000 0.68274 0.460000 0.39030 CAA GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052761.1 87.383698 0 -35 77 0 0 1 0 NM_002072 28 88.162471 44 0.388889 CEP89 84902 broad.mit.edu hg19 19 33444541 33444541 + Missense_Mutation SNP C C T TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr19:33444541C>T ENST00000305768.5 - 4 560 c.472G>A c.(472-474)Gct>Act p.A158T CEP89_ENST00000590597.2_Missense_Mutation_p.A158T NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TGTGGCACAGCGTACAGGTCA 0.478 0 426.0 460.0 448.0 19 33444541 2203 4300 6503 SO:0001583 missense AL832158 CCDS32987.1 19q13.11 2014-02-20 2011-05-06 2011-05-06 ENSG00000121289 25907 protein-coding gene gene with protein product 615470 """coiled-coil domain containing 123""" CCDC123 16395595 Standard NM_032816 Approved FLJ14640 uc002nty.3 Q96ST8 ENST00000305768.5:c.472G>A 19.37:g.33444541C>T ENSP00000306105:p.Ala158Thr B9EGA6|Q8N5J8 ENST00000305768.5 37 CCDS32987.1 . . . . . . . . . . C 10.44 1.351801 0.24512 . . ENSG00000121289 ENST00000305768 T 0.37235 1.21 5.12 1.75 0.24633 . 0.965087 0.08559 N 0.927728 T 0.28366 0.0701 L 0.56769 1.78 0.09310 N 1 P;P;B 0.50819 0.939;0.938;0.451 B;B;B 0.36092 0.214;0.217;0.042 T 0.22382 -1.0218 10 0.48119 T 0.1 -0.3937 4.5944 0.12322 0.1748:0.6391:0.0:0.1861 . 129;158;158 Q8WUL5;Q96ST8-3;Q96ST8 .;.;CEP89_HUMAN T 158 ENSP00000306105:A158T ENSP00000306105:A158T A - 1 0 CEP89 38136381 0.000000 0.05858 0.003000 0.11579 0.017000 0.09413 -0.467000 0.06664 0.242000 0.21303 0.591000 0.81541 GCT CEP89-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000451300.2 -90.046428 0 -46 549 0 0 1 0 NM_032816 8 12.743160 390 0.020101 EPS8L2 64787 broad.mit.edu hg19 11 722155 722155 + Missense_Mutation SNP C C T TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr11:722155C>T ENST00000533256.1 + 13 1424 c.1049C>T c.(1048-1050)cCt>cTt p.P350L EPS8L2_ENST00000318562.8_Missense_Mutation_p.P350L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P366L|EPS8L2_ENST00000530636.1_Missense_Mutation_p.P350L|AP006621.9_ENST00000527021.2_RNA Q9H6S3 ES8L2_HUMAN EPS8-like 2 350 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTCTTCGGGCCTCTGGACCTG 0.721 0 17.0 19.0 19.0 11 722155 2201 4297 6498 SO:0001583 missense AF318331 CCDS31328.1 11p15.5 2008-02-05 ENSG00000177106 21296 protein-coding gene gene with protein product 614988 12620401 Standard NM_022772 Approved FLJ21935, FLJ22171, MGC3088 uc001lqt.3 Q9H6S3 ENST00000533256.1:c.1049C>T 11.37:g.722155C>T ENSP00000435585:p.Pro350Leu B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9 ENST00000533256.1 37 CCDS31328.1 . . . . . . . . . . c 23.3 4.396184 0.83011 . . ENSG00000177106 ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198 T;T;T;T 0.21361 2.01;2.01;2.01;2.01 3.13 2.2 0.27929 . 0.434143 0.21137 N 0.079544 T 0.39091 0.1065 L 0.61036 1.89 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.997 T 0.12344 -1.0551 10 0.62326 D 0.03 -15.4899 9.2014 0.37260 0.0:0.8858:0.0:0.1142 . 366;350 B7ZKL3;Q9H6S3 .;ES8L2_HUMAN L 350;350;350;366 ENSP00000320828:P350L;ENSP00000435585:P350L;ENSP00000436035:P350L;ENSP00000436230:P366L ENSP00000320828:P350L P + 2 0 EPS8L2 712155 0.995000 0.38212 0.998000 0.56505 0.992000 0.81027 5.022000 0.64078 0.670000 0.31165 0.486000 0.48141 CCT EPS8L2-003 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382344.1 17.143717 0 -5 32 0 0 1 0 NM_022772 6 17.586670 12 0.333333 SEMA4A 64218 broad.mit.edu hg19 1 156146412 156146412 + Missense_Mutation SNP C C G TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr1:156146412C>G ENST00000368285.3 + 15 2177 c.1910C>G c.(1909-1911)tCc>tGc p.S637C SEMA4A_ENST00000355014.2_Missense_Mutation_p.S637C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S505C|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S637C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S505C NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 637 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CCTGTGATCTCCTACTGGGTG 0.577 1 101.0 106.0 104.0 1 156146412 2203 4300 6503 SO:0001583 missense AK022416 CCDS1132.1, CCDS53378.1 1q22 2014-01-28 ENSG00000196189 ENSG00000196189 """Semaphorins""" 10729 protein-coding gene gene with protein product 607292 SEMAB 7748561 Standard NM_022367 Approved SemB, FLJ12287, CORD10 uc009wrq.3 Q9H3S1 OTTHUMG00000014042 ENST00000368285.3:c.1910C>G 1.37:g.156146412C>G ENSP00000357268:p.Ser637Cys B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9 ENST00000368285.3 37 CCDS1132.1 . . . . . . . . . . C 11.41 1.630652 0.28978 . . ENSG00000196189 ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282 T;T;T;T;T 0.47869 0.83;0.83;0.83;0.83;0.83 5.01 5.01 0.66863 . 0.676221 0.15501 N 0.259048 T 0.33352 0.0860 M 0.69823 2.125 0.31702 N 0.640558 B;B 0.32040 0.353;0.353 B;B 0.32762 0.152;0.152 T 0.40553 -0.9557 10 0.56958 D 0.05 . 10.9839 0.47510 0.1866:0.8134:0.0:0.0 . 505;637 Q5TCJ6;Q9H3S1 .;SEM4A_HUMAN C 637;637;505;599;599;505;637 ENSP00000347117:S637C;ENSP00000357268:S637C;ENSP00000357267:S505C;ENSP00000357269:S505C;ENSP00000357265:S637C ENSP00000347117:S637C S + 2 0 SEMA4A 154413036 1.000000 0.71417 1.000000 0.80357 0.535000 0.34838 2.074000 0.41529 2.336000 0.79503 0.313000 0.20887 TCC SEMA4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039484.2 39.363146 0 -33 41 0 0 1 0 NM_022367 13 40.084633 24 0.351351 C3 718 broad.mit.edu hg19 19 6684417 6684417 + Missense_Mutation SNP A A G rs146172605 byFrequency TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr19:6684417A>G ENST00000245907.6 - 33 4246 c.4154T>C c.(4153-4155)aTc>aCc p.I1385T NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1385 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GATCTCAAGGATCATAGTGTT 0.448 0 140.0 140.0 140.0 19 6684417 2203 4300 6503 SO:0001583 missense J04763 CCDS32883.1 19p13.3-p13.2 2014-09-17 ENSG00000125730 ENSG00000125730 """Complement system"", ""Endogenous ligands""" 1318 protein-coding gene gene with protein product """C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3""" 120700 Standard NM_000064 Approved CPAMD1, ARMD9, C3a, C3b uc002mfm.3 P01024 OTTHUMG00000150335 ENST00000245907.6:c.4154T>C 19.37:g.6684417A>G ENSP00000245907:p.Ile1385Thr A7E236 ENST00000245907.6 37 CCDS32883.1 . . . . . . . . . . A 0.831 -0.745322 0.03065 . . ENSG00000125730 ENST00000245907 T 0.28666 1.6 5.05 0.216 0.15258 Alpha-macroglobulin, receptor-binding (2); 1.727610 0.02632 N 0.104516 T 0.16428 0.0395 N 0.20685 0.6 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.11867 -1.0570 10 0.07482 T 0.82 . 2.4924 0.04614 0.4546:0.0:0.196:0.3494 . 1385 P01024 CO3_HUMAN T 1385 ENSP00000245907:I1385T ENSP00000245907:I1385T I - 2 0 C3 6635417 0.004000 0.15560 0.203000 0.23512 0.245000 0.25701 -0.080000 0.11339 0.314000 0.23086 0.473000 0.43528 ATC C3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317636.2 118.463833 0 -9 110 0 0 1 0 NM_000064 37 118.828439 49 0.430233 PLD5 200150 broad.mit.edu hg19 1 242264008 242264008 + Missense_Mutation SNP C C T TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr1:242264008C>T ENST00000536534.2 - 9 1557 c.1316G>A c.(1315-1317)cGc>cAc p.R439H PLD5_ENST00000442594.2_Missense_Mutation_p.R347H|PLD5_ENST00000427495.1_Missense_Mutation_p.R377H Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 PLD phosphodiesterase 2. integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GTACTTGTTGCGATTTAACCT 0.448 0 242.0 205.0 218.0 1 242264008 2203 4300 6503 SO:0001583 missense AK098092 CCDS1621.1, CCDS1621.2, CCDS55692.1 1q43 2008-02-05 ENSG00000180287 ENSG00000180287 26879 protein-coding gene gene with protein product Standard NM_001195811 Approved FLJ40773 uc001hzn.2 Q8N7P1 OTTHUMG00000039867 ENST00000536534.2:c.1316G>A 1.37:g.242264008C>T ENSP00000440896:p.Arg439His A1KXV0|B7Z324|Q494U9|Q8NB22 ENST00000536534.2 37 CCDS1621.2 . . . . . . . . . . C 5.529 0.282617 0.10458 . . ENSG00000180287 ENST00000427495;ENST00000442594;ENST00000536534 T;T;T 0.00476 7.15;7.15;7.15 5.5 5.5 0.81552 Phospholipase D/Transphosphatidylase (1); 0.221081 0.48286 D 0.000189 T 0.00178 0.0005 N 0.01446 -0.86 0.41076 D 0.985485 B;B;B 0.32425 0.371;0.132;0.208 B;B;B 0.21708 0.036;0.005;0.036 T 0.66626 -0.5876 10 0.02654 T 1 -14.9538 17.1809 0.86855 0.0:1.0:0.0:0.0 . 347;439;377 Q8N7P1-2;Q8N7P1;Q8N7P1-4 .;PLD5_HUMAN;. H 377;347;439 ENSP00000401285:R377H;ENSP00000414188:R347H;ENSP00000440896:R439H ENSP00000401285:R377H R - 2 0 PLD5 240330631 1.000000 0.71417 1.000000 0.80357 0.941000 0.58515 3.645000 0.54389 2.578000 0.87016 0.650000 0.86243 CGC PLD5-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397213.2 51.866315 0 -29 77 0 0 1 0 NM_152666 17 52.363772 27 0.386364 AADACL4 343066 broad.mit.edu hg19 1 12711246 12711246 + Silent SNP C C T TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr1:12711246C>T ENST00000376221.1 + 2 273 c.273C>T c.(271-273)gaC>gaT p.D91D NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 91 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TGGTGACCGACCTGCGTTTTG 0.493 0 94.0 92.0 93.0 1 12711246 2203 4300 6503 SO:0001819 synonymous_variant CCDS30590.1 1p36.21 2010-12-14 ENSG00000204518 ENSG00000204518 32038 protein-coding gene gene with protein product Standard XM_006710608 Approved OTTHUMG00000001889 uc001auf.3 Q5VUY2 OTTHUMG00000001889 ENST00000376221.1:c.273C>T 1.37:g.12711246C>T ENST00000376221.1 37 CCDS30590.1 AADACL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005328.1 124.661547 0 -42 120 0 0 1 0 NM_001013630 41 124.945118 52 0.440860 PGR 5241 broad.mit.edu hg19 11 100999546 100999546 + Missense_Mutation SNP C C T TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr11:100999546C>T ENST00000325455.5 - 1 1709 c.256G>A c.(256-258)Gca>Aca p.A86T PGR_ENST00000263463.5_Missense_Mutation_p.A86T|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 86 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) CTGGAATATGCGCCCTCCACG 0.602 0 69.0 62.0 65.0 11 100999546 2203 4300 6503 SO:0001583 missense M15716 CCDS8310.1, CCDS59229.1 11q22-q23 2013-01-16 ENSG00000082175 ENSG00000082175 """Nuclear hormone receptors""" 8910 protein-coding gene gene with protein product 607311 Standard NM_000926 Approved PR, NR3C3 uc001pgh.2 P06401 OTTHUMG00000167531 ENST00000325455.5:c.256G>A 11.37:g.100999546C>T ENSP00000325120:p.Ala86Thr A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7 ENST00000325455.5 37 CCDS8310.1 . . . . . . . . . . C 11.02 1.515342 0.27123 . . ENSG00000082175 ENST00000325455;ENST00000263463;ENST00000537623 T;T 0.08984 3.03;3.03 4.2 2.24 0.28232 . 0.965129 0.08471 N 0.940932 T 0.09247 0.0228 M 0.62723 1.935 0.09310 N 1 P;P 0.40681 0.727;0.727 B;B 0.32211 0.105;0.142 T 0.29058 -1.0024 10 0.62326 D 0.03 . 7.2339 0.26059 0.1994:0.4663:0.3343:0.0 . 86;86 Q8TDS3;P06401 .;PRGR_HUMAN T 86 ENSP00000325120:A86T;ENSP00000263463:A86T ENSP00000263463:A86T A - 1 0 PGR 100504756 0.000000 0.05858 0.049000 0.19019 0.126000 0.20510 -0.089000 0.11180 0.367000 0.24454 -0.397000 0.06425 GCA PGR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394934.1 -3.616466 0 -15 43 0 0 1 0 3 6.778634 48 0.058824 PSG6 5675 broad.mit.edu hg19 19 43411102 43411102 + Silent SNP G G T TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr19:43411102G>T ENST00000187910.2 - 5 1277 c.1212C>A c.(1210-1212)atC>atA p.I404I PSG6_ENST00000402603.4_Silent_p.I311I|PSG6_ENST00000292125.2_Silent_p.I404I NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TGGATTTGGAGATTTCCTTGC 0.453 0 194.0 200.0 198.0 19 43411102 2201 4299 6500 SO:0001819 synonymous_variant CCDS12613.1, CCDS33038.1 19q13.2 2013-01-29 ENSG00000170848 ENSG00000170848 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9523 protein-coding gene gene with protein product 176395 1690992 Standard NM_002782 Approved Q00889 OTTHUMG00000151127 ENST00000402603.4:c.933C>A 19.37:g.43411102G>T O75244|Q15224|Q15235|Q549K1 ENST00000402603.4 37 PSG6-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000321437.2 179.372382 1 -66 239 0 2.03366e-24 1 2.03366e-24 NM_002782 63 182.079552 109 0.366279 ALPI 248 broad.mit.edu hg19 2 233323457 233323457 + Splice_Site SNP C C T TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr2:233323457C>T ENST00000295463.3 + 10 1376 c.1299C>T c.(1297-1299)agC>agT p.S433S NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 433 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) AGAGCGAGAGCGGTGAGTGAG 0.647 0 57.0 54.0 55.0 2 233323457 2203 4300 6503 SO:0001630 splice_region_variant M15694 CCDS2492.1 2q37.1 2008-02-05 ENSG00000163295 ENSG00000163295 437 protein-coding gene gene with protein product 171740 3468508, 3469665 Standard NM_001631 Approved uc002vst.4 P09923 OTTHUMG00000133258 ENST00000295463.3:c.1300+1C>T 2.37:g.233323457C>T B2R7Y4|Q53S80|Q9UBV5|Q9UCL2 ENST00000295463.3 37 CCDS2492.1 ALPI-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257035.2 45.220140 0 12 50 0 0 1 0 NM_001631 15 45.375705 20 0.428571 BAP1 8314 broad.mit.edu hg19 3 52443593 52443593 + Nonsense_Mutation SNP G G C TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr3:52443593G>C ENST00000460680.1 - 3 570 c.99C>G c.(97-99)taC>taG p.Y33* BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y33* NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 33 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TCTGAAGGTCGTAGATCTCCT 0.612 0 221.0 230.0 227.0 3 52443593 2203 4300 6503 SO:0001587 stop_gained AF045581 CCDS2853.1 3p21.31-p21.2 2014-09-17 ENSG00000163930 ENSG00000163930 950 protein-coding gene gene with protein product 603089 9528852 Standard NM_004656 Approved hucep-6, KIAA0272, UCHL2 uc003ddx.4 Q92560 OTTHUMG00000158392 ENST00000460680.1:c.99C>G 3.37:g.52443593G>C ENSP00000417132:p.Tyr33* B2RBS7|B3KRH1|Q5TEN1|Q5TEN2 ENST00000460680.1 37 CCDS2853.1 . . . . . . . . . . G 28.4 4.915801 0.92178 . . ENSG00000163930 ENST00000460680;ENST00000296288 . . . 4.97 3.82 0.43975 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -1.7504 9.8713 0.41175 0.9174:0.0:0.0826:0.0 . . . . X 33 . ENSP00000296288:Y33X Y - 3 2 BAP1 52418633 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 3.702000 0.54800 0.761000 0.33130 -0.302000 0.09304 TAC BAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350895.1 205.658681 0 -4 277 0 0 1 0 59 209.468362 22 0.728395 TFDP3 51270 broad.mit.edu hg19 X 132351713 132351713 + Missense_Mutation SNP T T C TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chrX:132351713T>C ENST00000310125.4 - 1 663 c.575A>G c.(574-576)aAc>aGc p.N192S NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 192 Involved in negatively regulating E2F activity. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) CTGAGCCGAGTTGGTGGTCAG 0.433 0 105.0 96.0 99.0 X 132351713 2203 4300 6503 SO:0001583 missense AF219119 CCDS14636.2 Xq26.2 2009-03-25 ENSG00000183434 ENSG00000183434 24603 protein-coding gene gene with protein product """E2F-like protein"", ""cancer/testis antigen 30""" 300772 12097419 Standard NM_016521 Approved HCA661, E2F-like, CT30 uc004exb.1 Q5H9I0 OTTHUMG00000022433 ENST00000310125.4:c.575A>G X.37:g.132351713T>C ENSP00000385461:p.Asn192Ser Q6DK49|Q9NZ54 ENST00000310125.4 37 CCDS14636.2 . . . . . . . . . . t 4.023 0.001782 0.07819 . . ENSG00000183434 ENST00000310125 T 0.25912 1.77 0.208 -0.415 0.12355 Winged helix-turn-helix transcription repressor DNA-binding (1); . . . . T 0.13030 0.0316 N 0.17631 0.505 0.58432 D 0.999998 B 0.31290 0.318 B 0.31191 0.125 T 0.15435 -1.0437 9 0.45353 T 0.12 . 4.1341 0.10162 0.0:0.0:0.3486:0.6514 . 192 Q5H9I0 TFDP3_HUMAN S 192 ENSP00000385461:N192S ENSP00000385461:N192S N - 2 0 TFDP3 132179379 1.000000 0.71417 0.010000 0.14722 0.010000 0.07245 3.782000 0.55401 -1.079000 0.03113 -1.113000 0.02065 AAC TFDP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058337.1 46.647601 0 -13 54 0 0 1 0 NM_016521 14 46.710673 17 0.451613 KAT6A 7994 broad.mit.edu hg19 8 41790122 41790146 + Frame_Shift_Del DEL CTGCTGGTGAGCAGCCGCAGAGGGC CTGCTGGTGAGCAGCCGCAGAGGGC - rs140666969 byFrequency TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr8:41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC ENST00000396930.3 - 18 6135_6159 c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG c.(5590-5616)ctgccctctgcggctgctcaccagcagfs p.LPSAAAHQQ1864fs KAT6A_ENST00000265713.2_Frame_Shift_Del_p.LPSAAAHQQ1864fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.LPSAAAHQQ1864fs NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1864 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CATACAGCTGCTGCTGGTGAGCAGCCGCAGAGGGCAGTGGCGCAG 0.587 0 SO:0001589 frameshift_variant U47742 CCDS6124.1 8p11 2013-01-28 2011-07-21 2011-07-21 ENSG00000083168 ENSG00000083168 """Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type""" 13013 protein-coding gene gene with protein product """Monocytic leukemia zinc finger protein""" 601408 """runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3""" ZNF220, RUNXBP2, MYST3 8849440, 8782817 Standard NM_001099412 Approved MOZ, ZC2HC6A uc003xon.4 Q92794 OTTHUMG00000150453 ENST00000396930.3:c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG 8.37:g.41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC ENSP00000380136:p.Leu1864fs Q76L81 ENST00000396930.3 37 CCDS6124.1 KAT6A-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318163.1 . . 5 26 NM_006766 5 2 0.71 RPL11 6135 broad.mit.edu hg19 1 24019228 24019229 + Frame_Shift_Ins INS - - AG TCGA-V4-A9F1-01A-11D-A39W-08 TCGA-V4-A9F1-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 4f28a92d-40fe-4699-a7ab-253233a92f59 6ce50213-b8fe-4c42-9f33-4927d26489a7 g.chr1:24019228_24019229insAG ENST00000374550.3 + 2 181_182 c.136_137insAG c.(136-138)cagfs p.Q46fs RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 46 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) GCTCACAGGGCAGACCCCTGTG 0.535 0 SO:0001589 frameshift_variant L05092 CCDS238.1 1p36.1-p35 2011-04-06 ENSG00000142676 ENSG00000142676 """L ribosomal proteins""" 10301 protein-coding gene gene with protein product 604175 9582194, 10343117 Standard NM_000975 Approved L11 uc001bhk.3 P62913 OTTHUMG00000002926 ENST00000374550.3:c.137_138dupAG 1.37:g.24019229_24019230dupAG ENSP00000363676:p.Gln46fs P25121|P39026|Q8TDH2|Q9Y674 ENST00000374550.3 37 CCDS238.1 RPL11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000008168.1 . . -14 115 NM_000975 47 66 0.41