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 FSHR 0 broad.mit.edu hg19 2 49381416 49381416 + Silent SNP A A G TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr2:49381416A>G ENST00000406846.2 - 1 260 c.141T>C c.(139-141)aaT>aaC p.N47N FSHR_ENST00000346173.3_Silent_p.N47N|FSHR_ENST00000304421.4_Silent_p.N47N NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 47 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTTCAATGGCATTCCTCGGGA 0.463 0 70.0 69.0 69.0 2 49381416 2203 4300 6503 SO:0001819 synonymous_variant CCDS1843.1, CCDS1844.1, CCDS1844.2 2p21-p16 2014-09-17 ENSG00000170820 ENSG00000170820 """GPCR / Class A : Gonadotropin and TSH receptors""" 3969 protein-coding gene gene with protein product 136435 ODG1 8230163, 8855829 Standard NM_000145 Approved FSHRO, LGR1 uc002rww.3 P23945 OTTHUMG00000129259 ENST00000406846.2:c.141T>C 2.37:g.49381416A>G A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2 ENST00000406846.2 37 CCDS1843.1 FSHR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251367.2 25.729183 0 -8 36 0 0 1 0 10 28.003147 30 0.250000 STK4 6789 broad.mit.edu hg19 20 43653753 43653753 + Silent SNP G G A TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr20:43653753G>A ENST00000372806.3 + 10 1382 c.1287G>A c.(1285-1287)caG>caA p.Q429Q STK4_ENST00000396731.4_Silent_p.Q429Q|STK4_ENST00000372801.1_Silent_p.Q429Q|STK4_ENST00000499879.2_Silent_p.Q374Q NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 429 apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) AAATACCACAGGATGGAGACT 0.363 0 104.0 100.0 101.0 20 43653753 2203 4300 6503 SO:0001819 synonymous_variant CCDS13341.1 20q11.2-q13.2 2014-09-17 ENSG00000101109 ENSG00000101109 11408 protein-coding gene gene with protein product """mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2""" 604965 8816758, 9545236, 11517310 Standard NM_006282 Approved MST1, KRS2, YSK3 uc002xnb.3 Q13043 OTTHUMG00000033059 ENST00000372806.3:c.1287G>A 20.37:g.43653753G>A B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4 ENST00000372806.3 37 CCDS13341.1 STK4-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080401.4 14.098175 0 8 62 0 0 1 0 NM_006282 7 18.522913 35 0.166667 PSAP 5660 broad.mit.edu hg19 10 73588803 73588803 + Missense_Mutation SNP T T C TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr10:73588803T>C ENST00000394936.3 - 5 554 c.407A>G c.(406-408)aAc>aGc p.N136S PSAP_ENST00000394934.1_Missense_Mutation_p.N136S P07602 SAP_HUMAN prosaposin 136 Saposin B-type 1. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 CTCGCAGAGGTTGAGAGCAGA 0.552 0 73.0 72.0 73.0 10 73588803 2203 4300 6503 SO:0001583 missense BC004275 CCDS7311.1 10q21-q22 2014-01-30 2008-07-31 ENSG00000197746 ENSG00000197746 """Endogenous ligands""" 9498 protein-coding gene gene with protein product """variant Gaucher disease and variant metachromatic leukodystrophy""" 176801 """sphingolipid activator protein-1""" SAP1, GLBA 2717620 Standard NM_001042465 Approved uc001jsm.3 P07602 OTTHUMG00000018429 ENST00000394936.3:c.407A>G 10.37:g.73588803T>C ENSP00000378394:p.Asn136Ser P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742 ENST00000394936.3 37 CCDS7311.1 . . . . . . . . . . T 6.204 0.405741 0.11754 2.27E-4 0.0 ENSG00000197746 ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940 T;T 0.74106 -0.81;-0.81 5.0 -1.83 0.07833 Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2); 0.596935 0.18687 N 0.133984 T 0.44871 0.1314 N 0.03608 -0.345 0.23401 N 0.997756 B 0.09022 0.002 B 0.11329 0.006 T 0.34950 -0.9808 10 0.37606 T 0.19 -8.1092 7.1844 0.25791 0.0:0.4344:0.2114:0.3542 . 136 P07602 SAP_HUMAN S 136;136;136;136;139;61 ENSP00000378394:N136S;ENSP00000378392:N136S ENSP00000350063:N136S N - 2 0 PSAP 73258809 0.000000 0.05858 0.993000 0.49108 0.888000 0.51559 -0.356000 0.07661 0.018000 0.15052 -0.736000 0.03550 AAC PSAP-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000048553.1 26.325878 0 -40 87 0 0 1 0 NM_002778 13 35.435608 69 0.158537 LAMA5 3911 ucsc.edu hg19 20 60885315 60885315 + Silent SNP G G T TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 G G Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf TGACTGCCAGGGGCCGCACCT 0.652 0 33.0 39.0 37.0 20 60885315 2201 4294 6495 SO:0001819 synonymous_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 """Laminins""" 6485 protein-coding gene gene with protein product 601033 9271224 Standard NM_005560 Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.10653C>A 20.37:g.60885315G>T Q8TDF8|Q8WZA7|Q9H1P1 ENST00000252999.3 37 CCDS33502.1 LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080014.2 -3 62 NM_005560 4 37 LYPD4 147719 broad.mit.edu hg19 19 42342289 42342289 + Silent SNP C C T TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr19:42342289C>T ENST00000330743.3 - 4 1469 c.258G>A c.(256-258)tcG>tcA p.S86S LYPD4_ENST00000343055.4_Silent_p.S51S|LYPD4_ENST00000601246.1_Silent_p.S51S NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 86 Poly-Ser. anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CAGGGTAAGACGAAGACGAGC 0.557 0 98.0 89.0 92.0 19 42342289 2203 4300 6503 SO:0001819 synonymous_variant AY358726 CCDS12587.1 19q13.2 2008-02-05 ENSG00000273111 28659 protein-coding gene gene with protein product 12975309 Standard XM_005278383 Approved MGC42718 uc002orp.1 Q6UWN0 ENST00000330743.3:c.258G>A 19.37:g.42342289C>T Q8IYW0 ENST00000330743.3 37 CCDS12587.1 LYPD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463039.1 1.802766 0 -13 34 0 0 1 0 NM_173506 3 6.598771 27 0.100000 OR1L1 26737 broad.mit.edu hg19 9 125424359 125424359 + Missense_Mutation SNP G G A TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr9:125424359G>A ENST00000373686.1 + 1 515 c.515G>A c.(514-516)cGc>cAc p.R172H OR1L1_ENST00000309623.1_Missense_Mutation_p.R122H Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 GCCATTGACCGCTATGTGGCC 0.458 0 260.0 235.0 243.0 9 125424359 2203 4300 6503 SO:0001583 missense CCDS35127.1, CCDS35127.2 9q33.2 2013-09-20 ENSG00000173679 ENSG00000173679 """GPCR / Class A : Olfactory receptors""" 8213 protein-coding gene gene with protein product OR1L2 Standard NM_001005236 Approved OR9-C uc022bmz.1 Q8NH94 OTTHUMG00000020618 ENST00000309623.1:c.365G>A 9.37:g.125424359G>A ENSP00000310773:p.Arg122His Q5T7Z3|Q6IFN2 ENST00000309623.1 37 CCDS35127.2 . . . . . . . . . . G 13.83 2.353302 0.41700 . . ENSG00000173679 ENST00000373686;ENST00000309623 T;T 0.77489 -1.1;-1.1 3.11 2.2 0.27929 GPCR, rhodopsin-like superfamily (1); . . . . T 0.73273 0.3566 M 0.61703 1.905 0.27518 N 0.951488 B 0.21520 0.057 B 0.20184 0.028 T 0.66968 -0.5789 9 0.72032 D 0.01 . 9.2331 0.37450 0.1151:0.0:0.8849:0.0 . 172 Q8NH94 OR1L1_HUMAN H 172;122 ENSP00000362790:R172H;ENSP00000310773:R122H ENSP00000310773:R122H R + 2 0 OR1L1 124464180 0.996000 0.38824 0.317000 0.25265 0.010000 0.07245 7.528000 0.81941 0.623000 0.30267 0.313000 0.20887 CGC OR1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053949.1 -21.064550 0 -24 154 0 0 1 0 4 7.403119 116 0.033333 KCNH5 27133 broad.mit.edu hg19 14 63269191 63269191 + Missense_Mutation SNP G G A TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr14:63269191G>A ENST00000322893.7 - 9 1946 c.1678C>T c.(1678-1680)Cgc>Tgc p.R560C KCNH5_ENST00000394968.1_Missense_Mutation_p.R502C|KCNH5_ENST00000420622.2_Missense_Mutation_p.R560C NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 560 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GCCAAGGCGCGCAGACACCCA 0.512 0 82.0 77.0 79.0 14 63269191 2203 4300 6503 SO:0001583 missense U69185 CCDS9756.1, CCDS45122.1 14q23.1 2012-07-05 ENSG00000140015 ENSG00000140015 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6254 protein-coding gene gene with protein product 605716 9738473, 16382104 Standard NM_139318 Approved Kv10.2, H-EAG2, eag2 uc001xfx.3 Q8NCM2 OTTHUMG00000029041 ENST00000322893.7:c.1678C>T 14.37:g.63269191G>A ENSP00000321427:p.Arg560Cys C9JP98 ENST00000322893.7 37 CCDS9756.1 . . . . . . . . . . G 20.2 3.948501 0.73787 . . ENSG00000140015 ENST00000322893;ENST00000420622;ENST00000394968 D;D;D 0.96940 -4.18;-4.18;-4.18 5.13 4.22 0.49857 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2); 0.000000 0.85682 D 0.000000 D 0.98413 0.9472 M 0.91038 3.17 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.99564 1.0969 10 0.87932 D 0 . 15.7242 0.77740 0.0:0.1373:0.8627:0.0 . 502;560;560 Q8NCM2-3;Q8NCM2-2;Q8NCM2 .;.;KCNH5_HUMAN C 560;560;502 ENSP00000321427:R560C;ENSP00000395439:R560C;ENSP00000378419:R502C ENSP00000321427:R560C R - 1 0 KCNH5 62338944 1.000000 0.71417 0.977000 0.42913 0.897000 0.52465 5.628000 0.67791 1.265000 0.44215 0.563000 0.77884 CGC KCNH5-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411747.1 9.419160 0 0 68 0 0 1 0 NM_139318 6 15.053430 38 0.136364 GNA11 2767 broad.mit.edu hg19 19 3118942 3118942 + Missense_Mutation SNP A A T TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr19:3118942A>T ENST00000078429.4 + 5 868 c.626A>T c.(625-627)cAg>cTg p.Q209L AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 209 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GTGGGGGGCCAGCGGTCGGAG 0.612 82 104.0 89.0 94.0 19 3118942 2203 4300 6503 SO:0001583 missense AF493900 CCDS12103.1 19p13.3 2014-02-04 ENSG00000088256 ENSG00000088256 4379 protein-coding gene gene with protein product 139313 """hypocalciuric hypercalcemia 2""" HHC2 1302014, 23802516 Standard NM_002067 Approved FBH, FBH2, FHH2 uc002lxd.3 P29992 OTTHUMG00000180631 ENST00000078429.4:c.626A>T 19.37:g.3118942A>T ENSP00000078429:p.Gln209Leu O15109|Q14350|Q6IB00 ENST00000078429.4 37 CCDS12103.1 . . . . . . . . . . . 15.05 2.718086 0.48622 . . ENSG00000088256 ENST00000078429 D 0.91237 -2.81 3.26 3.26 0.37387 . 0.000000 0.64402 U 0.000006 D 0.96950 0.9004 H 0.99357 4.53 0.80722 D 1 D 0.59767 0.986 D 0.68483 0.958 D 0.96823 0.9605 10 0.87932 D 0 . 10.7338 0.46113 1.0:0.0:0.0:0.0 . 209 P29992 GNA11_HUMAN L 209 ENSP00000078429:Q209L ENSP00000078429:Q209L Q + 2 0 GNA11 3069942 1.000000 0.71417 0.438000 0.26821 0.027000 0.11550 9.104000 0.94239 1.256000 0.44068 0.379000 0.24179 CAG GNA11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452261.2 17.309185 0 -15 66 0 0 1 0 NM_002067 7 19.449272 24 0.225806 RNF167 26001 broad.mit.edu hg19 17 4846548 4846548 + Missense_Mutation SNP G G A TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr17:4846548G>A ENST00000262482.6 + 7 1201 c.545G>A c.(544-546)gGa>gAa p.G182E RNF167_ENST00000572430.1_Missense_Mutation_p.G182E|RNF167_ENST00000576229.1_Missense_Mutation_p.G147E|RNF167_ENST00000570492.1_Intron|RNF167_ENST00000571816.1_Missense_Mutation_p.G182E|RNF167_ENST00000575111.1_Missense_Mutation_p.G182E NM_015528.1 NP_056343.1 Q9H6Y7 RN167_HUMAN ring finger protein 167 182 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(1) 4 GGGATTGTGGGACTGCTGGTT 0.547 0 83.0 72.0 76.0 17 4846548 2203 4300 6503 SO:0001583 missense AL050060 CCDS11060.1 17p13.3 2013-02-21 ENSG00000108523 ENSG00000108523 """RING-type (C3HC4) zinc fingers""" 24544 protein-coding gene gene with protein product 610431 23129617, 23353890 Standard NM_015528 Approved DKFZP566H073 uc002fzs.3 Q9H6Y7 OTTHUMG00000099397 ENST00000262482.6:c.545G>A 17.37:g.4846548G>A ENSP00000262482:p.Gly182Glu D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1 ENST00000262482.6 37 CCDS11060.1 . . . . . . . . . . G 19.11 3.763871 0.69878 . . ENSG00000108523 ENST00000262482 T 0.04156 3.69 5.9 5.9 0.94986 . 0.168939 0.52532 D 0.000076 T 0.18467 0.0443 M 0.76170 2.325 0.44587 D 0.997552 D 0.58620 0.983 D 0.63703 0.917 T 0.00036 -1.2256 10 0.41790 T 0.15 -0.3361 13.364 0.60674 0.0:0.1579:0.8421:0.0 . 182 Q9H6Y7 RN167_HUMAN E 182 ENSP00000262482:G182E ENSP00000262482:G182E G + 2 0 RNF167 4787293 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 4.290000 0.59019 2.793000 0.96121 0.563000 0.77884 GGA RNF167-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216854.3 16.307772 0 -3 51 0 0 1 0 NM_015528 7 18.835121 26 0.212121 EIF2B5 8893 broad.mit.edu hg19 3 183856019 183856019 + Silent SNP C C T TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr3:183856019C>T ENST00000273783.3 + 5 872 c.750C>T c.(748-750)agC>agT p.S250S EIF2B5_ENST00000444495.1_Silent_p.S250S NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 250 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GTCATATCAGCATCTGTTCTC 0.468 0 161.0 147.0 152.0 3 183856019 2203 4300 6503 SO:0001819 synonymous_variant U23028 CCDS3252.1 3q27.3 2006-07-18 2002-08-29 ENSG00000145191 ENSG00000145191 3261 protein-coding gene gene with protein product 603945 """eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)""" 8688466 Standard NM_003907 Approved EIF2Bepsilon, EIF-2B uc003fmp.3 Q13144 OTTHUMG00000156840 ENST00000273783.3:c.750C>T 3.37:g.183856019C>T Q541Z1|Q96D04 ENST00000273783.3 37 CCDS3252.1 EIF2B5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346168.1 23.928331 0 -15 77 0 0 1 0 10 26.379962 31 0.243902 PLAU 5328 broad.mit.edu hg19 10 75673396 75673396 + Missense_Mutation SNP T T C TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr10:75673396T>C ENST00000446342.1 + 6 991 c.509T>C c.(508-510)aTc>aCc p.I170T C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.I187T|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.I151T NM_001145031.1 NP_001138503 P00749 UROK_HUMAN plasminogen activator, urokinase 187 Connecting peptide. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) TTCACCACCATCGAGAACCAG 0.547 0 99.0 117.0 111.0 10 75673396 2203 4300 6503 SO:0001583 missense BC013575 CCDS7339.1, CCDS44442.1 10q24 2012-10-02 ENSG00000122861 ENSG00000122861 9052 protein-coding gene gene with protein product 191840 2415429 Standard NM_002658 Approved URK, UPA uc001jwa.3 P00749 OTTHUMG00000018494 ENST00000372764.3:c.560T>C 10.37:g.75673396T>C ENSP00000361850:p.Ile187Thr B4DPZ2|Q15844|Q16618|Q53XS3|Q5SWW9|Q969W6 ENST00000372764.3 37 CCDS7339.1 . . . . . . . . . . T 13.47 2.248166 0.39697 . . ENSG00000122861 ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761 D;D;D 0.88509 -2.39;-2.39;-2.39 5.25 0.244 0.15507 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.454666 0.26255 N 0.025427 D 0.83737 0.5319 L 0.52206 1.635 0.09310 N 1 B;B;B;B 0.20368 0.021;0.044;0.034;0.001 B;B;B;B 0.27380 0.079;0.049;0.064;0.002 T 0.73228 -0.4049 10 0.49607 T 0.09 . 8.0973 0.30835 0.0:0.2628:0.0:0.7372 . 170;151;187;187 E7ET40;E7ESM2;B2R7F2;P00749 .;.;.;UROK_HUMAN T 170;187;151;151 ENSP00000388474:I170T;ENSP00000361850:I187T;ENSP00000361848:I151T ENSP00000361847:I151T I + 2 0 PLAU 75343402 0.071000 0.21146 0.000000 0.03702 0.969000 0.65631 1.239000 0.32719 -0.135000 0.11495 0.528000 0.53228 ATC PLAU-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048727.1 -10.791646 0 -27 176 0 0 1 0 NM_002658 9 6.945374 93 0.088235 TRIML1 339976 broad.mit.edu hg19 4 189068325 189068325 + Silent SNP G G A TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr4:189068325G>A ENST00000332517.3 + 6 1346 c.1206G>A c.(1204-1206)gaG>gaA p.E402E TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 402 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) ACGTCAGAGAGCCTGTGTGTA 0.493 0 152.0 136.0 141.0 4 189068325 2203 4300 6503 SO:0001819 synonymous_variant AK093499 CCDS3851.1 4q35.2 2013-01-09 ENSG00000184108 ENSG00000184108 """RING-type (C3HC4) zinc fingers""" 26698 protein-coding gene gene with protein product 12477932 Standard NM_178556 Approved FLJ36180, RNF209 uc003izm.1 Q8N9V2 OTTHUMG00000160237 ENST00000332517.3:c.1206G>A 4.37:g.189068325G>A Q96BE5 ENST00000332517.3 37 CCDS3851.1 TRIML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359813.1 59.751651 0 -21 119 0 0 1 0 NM_178556 24 64.688427 69 0.258065 PPARD 5467 broad.mit.edu hg19 6 35393805 35393805 + Silent SNP C C G TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr6:35393805C>G ENST00000311565.4 + 9 1624 c.1275C>G c.(1273-1275)acC>acG p.T425T PPARD_ENST00000540939.1_Silent_p.T322T|PPARD_ENST00000448077.2_Silent_p.T386T|PPARD_ENST00000360694.3_Silent_p.T425T|PPARD_ENST00000418635.2_Silent_p.T327T NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 425 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AGACCGAAACCGAGACCTCGC 0.607 0 100.0 84.0 89.0 6 35393805 2203 4300 6503 SO:0001819 synonymous_variant L07592 CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1 6p21.2 2013-01-16 2006-10-17 ENSG00000112033 ENSG00000112033 """Nuclear hormone receptors""" 9235 protein-coding gene gene with protein product 600409 """peroxisome proliferative activated receptor, delta""" 1333051 Standard NM_177435 Approved NUC1, NUCII, FAAR, NR1C2 uc003okm.3 Q03181 OTTHUMG00000014567 ENST00000311565.4:c.1275C>G 6.37:g.35393805C>G A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4 ENST00000311565.4 37 CCDS4803.1 PPARD-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040288.1 10.356799 0 -25 27 0 0 1 0 NM_006238 5 13.738804 26 0.161290 DRG1 4733 broad.mit.edu hg19 22 31816310 31816310 + Missense_Mutation SNP A A G TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr22:31816310A>G ENST00000331457.4 + 5 642 c.481A>G c.(481-483)Att>Gtt p.I161V DRG1_ENST00000433341.1_3'UTR NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 161 G. multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 TAAGAAGATAATTGAAAATGA 0.428 0 81.0 76.0 78.0 22 31816310 2203 4300 6503 SO:0001583 missense AJ005940 CCDS13897.1 22q12.2 2010-02-26 2001-11-28 ENSG00000185721 ENSG00000185721 3029 protein-coding gene gene with protein product 603952 """developmentally regulated GTP-binding protein 1""" NEDD3 7929244, 1449490 Standard NM_004147 Approved uc003aku.3 Q9Y295 OTTHUMG00000030792 ENST00000331457.4:c.481A>G 22.37:g.31816310A>G ENSP00000329715:p.Ile161Val B2RDS8|Q6FGP8|Q8WW69|Q9UGF2 ENST00000331457.4 37 CCDS13897.1 . . . . . . . . . . A 18.84 3.709524 0.68730 . . ENSG00000185721 ENST00000331457 T 0.16897 2.31 5.2 5.2 0.72013 Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1); 0.000000 0.85682 D 0.000000 T 0.32704 0.0838 M 0.67397 2.05 0.80722 D 1 P 0.40681 0.727 P 0.50570 0.644 T 0.05699 -1.0869 10 0.87932 D 0 -27.6891 14.5399 0.67984 1.0:0.0:0.0:0.0 . 161 Q9Y295 DRG1_HUMAN V 161 ENSP00000329715:I161V ENSP00000329715:I161V I + 1 0 DRG1 30146310 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 8.648000 0.91062 2.082000 0.62665 0.533000 0.62120 ATT DRG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000075680.5 30.870118 0 13 88 0 0 1 0 NM_004147 12 35.090373 44 0.214286 EIF1B 10289 broad.mit.edu hg19 3 40353009 40353010 + Frame_Shift_Ins INS - - T TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr3:40353009_40353010insT ENST00000232905.3 + 3 502_503 c.244_245insT c.(244-246)gttfs p.V82fs NM_005875.2 NP_005866.1 O60739 EIF1B_HUMAN eukaryotic translation initiation factor 1B 82 regulation of translational initiation protein binding|translation initiation factor activity central_nervous_system(1)|lung(3) 4 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) ATACGGAGAGGTTATTCAGCTT 0.361 0 SO:0001589 frameshift_variant BC006996 CCDS2690.1 3p22.1 2006-02-03 ENSG00000114784 ENSG00000114784 30792 protein-coding gene gene with protein product 7904817 Standard NM_005875 Approved GC20 uc003ckc.3 O60739 OTTHUMG00000131388 ENST00000232905.3:c.246dupT 3.37:g.40353011_40353011dupT ENSP00000232905:p.Val82fs Q9UQF8 ENST00000232905.3 37 CCDS2690.1 EIF1B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254177.1 . . -11 65 NM_005875 10 44 0.19 BAP1 8314 broad.mit.edu hg19 3 52439229 52439229 + Frame_Shift_Del DEL G G - TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr3:52439229delG ENST00000460680.1 - 11 1484 c.1013delC c.(1012-1014)cctfs p.P339fs BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 339 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) GCTGCCTGGAGGCTTCACCAC 0.587 1 113.0 120.0 117.0 3 52439229 2203 4300 6503 SO:0001589 frameshift_variant 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.1013delC 3.37:g.52439229delG ENSP00000417132:p.Pro339fs B2RBS7|B3KRH1|Q5TEN1|Q5TEN2 ENST00000460680.1 37 CCDS2853.1 BAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350895.1 . . -23 154 25 63 0.28 CCAR2 57805 broad.mit.edu hg19 8 22475962 22475963 + Frame_Shift_Ins INS - - A TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr8:22475962_22475963insA ENST00000308511.4 + 17 2423_2424 c.2174_2175insA c.(2173-2178)ttagagfs p.E726fs CCAR2_ENST00000520861.1_Frame_Shift_Ins_p.E401fs|CCAR2_ENST00000389279.3_Frame_Shift_Ins_p.E726fs cell cycle and apoptosis regulator 2 726 CGGCGAGACTTAGAGAGGATCC 0.564 0 SO:0001589 frameshift_variant AL834351 CCDS34863.1 8p22 2013-08-22 2013-08-22 2013-08-22 ENSG00000158941 23360 protein-coding gene gene with protein product """deleted in breast cancer""" 607359 """KIAA1967""" KIAA1967 12370419 Standard NM_021174 Approved DBC-1, DBC1, NET35 uc003xci.3 Q8N163 ENST00000308511.4:c.2175dupA 8.37:g.22475963_22475963dupA ENSP00000310670:p.Glu726fs A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55 ENST00000308511.4 37 CCDS34863.1 CCAR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375865.1 . . -20 105 NM_021174 17 51 0.25 BAP1 8314 broad.mit.edu hg19 3 52439228 52439229 + Frame_Shift_Del DEL AG AG - TCGA-YZ-A980-01A-11D-A39W-08 TCGA-YZ-A980-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5 40222640-92e6-45b0-9b35-b35133e45faf g.chr3:52439228_52439229delAG ENST00000460680.1 - 11 1484_1485 c.1013_1014delCT c.(1012-1014)cctfs p.P339fs BAP1_ENST00000296288.5_Frame_Shift_Del_p.P321fs NM_004656.2 NP_004647.1 Q99496 RING2_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 0 anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) 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) TGCTGCCTGGAGGCTTCACCAC 0.589 1 SO:0001589 frameshift_variant 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.1013_1014delCT 3:g.52439228_52439229delAG ENSP00000417132:p.Pro339fs B2RBS7|B3KRH1|Q5TEN1|Q5TEN2 ENST00000460680.1 CCDS2853.1 BAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350895.1 3.912000e+01 5.691000e+01 -23 154 24 61 2.900000e-01