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 GPR78 27201 broad.mit.edu hg19 4 8588969 8588969 + Missense_Mutation SNP A A G TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr4:8588969A>G ENST00000382487.4 + 3 1388 c.971A>G c.(970-972)gAc>gGc p.D324G GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 324 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 TCCACCCATGACAGCTCTCTG 0.647 0 45.0 51.0 49.0 4 8588969 2203 4299 6502 SO:0001583 missense AF411107 CCDS3403.1 4p16.1 2012-08-21 ENSG00000155269 ENSG00000155269 """GPCR / Class A : Orphans""" 4528 protein-coding gene gene with protein product 606921 11574155 Standard NM_080819 Approved uc003glk.4 Q96P69 OTTHUMG00000128483 ENST00000382487.4:c.971A>G 4.37:g.8588969A>G ENSP00000371927:p.Asp324Gly Q8NGV3 ENST00000382487.4 37 CCDS3403.1 . . . . . . . . . . A 2.982 -0.210017 0.06140 . . ENSG00000155269 ENST00000382487 T 0.61274 0.12 1.91 1.91 0.25777 . 0.338236 0.24904 N 0.034671 T 0.30665 0.0772 N 0.08118 0 0.22292 N 0.999224 B 0.02656 0.0 B 0.01281 0.0 T 0.14227 -1.0480 10 0.22706 T 0.39 . 7.0915 0.25287 1.0:0.0:0.0:0.0 . 324 Q96P69 GPR78_HUMAN G 324 ENSP00000371927:D324G ENSP00000371927:D324G D + 2 0 GPR78 8639869 0.998000 0.40836 0.015000 0.15790 0.011000 0.07611 1.532000 0.36029 0.412000 0.25729 0.172000 0.16884 GAC GPR78-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359201.1 25.896248 0 -3 64 0 0 1 0 11 30.295561 43 0.203704 ANGEL1 23357 broad.mit.edu hg19 14 77273137 77273137 + Silent SNP G G A TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr14:77273137G>A ENST00000251089.2 - 5 1114 c.1002C>T c.(1000-1002)gtC>gtT p.V334V NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 334 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GCTTGTAGCAGACAGCACAGC 0.512 0 169.0 180.0 177.0 14 77273137 2203 4300 6503 SO:0001819 synonymous_variant AF111169 CCDS9852.1 14q24.3 2014-06-17 2005-08-04 ENSG00000013523 ENSG00000013523 19961 protein-coding gene gene with protein product KIAA0759 11943475 Standard NM_015305 Approved Ccr4e uc001xsv.3 Q9UNK9 OTTHUMG00000171494 ENST00000251089.2:c.1002C>T 14.37:g.77273137G>A B4DWL7|O94859|Q8NCS9 ENST00000251089.2 37 CCDS9852.1 ANGEL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413712.2 -33.350294 0 -5 214 0 0 1 0 NM_015305 4 6.985138 157 0.024845 SPTBN1 0 broad.mit.edu hg19 2 54845327 54845327 + Missense_Mutation SNP G G A TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr2:54845327G>A ENST00000333896.5 + 6 1106 c.721G>A c.(721-723)Gaa>Aaa p.E241K SPTBN1_ENST00000356805.4_Missense_Mutation_p.E254K NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 254 Actin-binding.|CH 2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GTTGGACCCCGAAGGTAGGGA 0.428 0 61.0 59.0 60.0 2 54845327 2203 4300 6503 SO:0001583 missense CCDS33198.1, CCDS33199.1 2p21 2013-01-10 ENSG00000115306 ENSG00000115306 """Pleckstrin homology (PH) domain containing""" 11275 protein-coding gene gene with protein product 182790 Standard NM_003128 Approved uc002rxu.3 Q01082 OTTHUMG00000133746 ENST00000356805.4:c.760G>A 2.37:g.54845327G>A ENSP00000349259:p.Glu254Lys B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99 ENST00000356805.4 37 CCDS33198.1 . . . . . . . . . . G 36 5.957391 0.97145 . . ENSG00000115306 ENST00000356805;ENST00000389980;ENST00000333896 T;T;D 0.97620 -0.31;-0.31;-4.46 5.56 5.56 0.83823 Calponin homology domain (5); 0.000000 0.85682 D 0.000000 D 0.98604 0.9533 M 0.85710 2.77 0.80722 D 1 D;D 0.89917 1.0;0.991 D;P 0.76575 0.988;0.827 D 0.99533 1.0961 10 0.87932 D 0 . 19.5255 0.95203 0.0:0.0:1.0:0.0 . 241;254 Q01082-3;Q01082 .;SPTB2_HUMAN K 254;254;241 ENSP00000349259:E254K;ENSP00000374630:E254K;ENSP00000334156:E241K ENSP00000334156:E241K E + 1 0 SPTBN1 54698831 1.000000 0.71417 0.983000 0.44433 0.930000 0.56654 9.807000 0.99171 2.624000 0.88883 0.650000 0.86243 GAA SPTBN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000258115.3 1.262545 0 -4 49 0 0 1 0 4 9.469446 43 0.085106 CACNA1B 774 broad.mit.edu hg19 9 141016204 141016204 + Missense_Mutation SNP C C T TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr9:141016204C>T ENST00000277549.5 + 47 6924 c.4355C>T c.(4354-4356)cCt>cTt p.P1452L CACNA1B_ENST00000371357.1_Missense_Mutation_p.P2257L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P2258L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P2259L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L2196F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P2256L Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2258 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) GGCTCTGACCCTTACCTGGGG 0.667 0 35.0 40.0 38.0 9 141016204 2001 4160 6161 SO:0001583 missense AB209467 CCDS59522.1, CCDS59523.1 9q34 2013-01-10 2007-02-16 ENSG00000148408 ENSG00000148408 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing""" 1389 protein-coding gene gene with protein product 601012 CACNL1A5 8825650, 16382099 Standard NM_000718 Approved Cav2.2, CACNN uc004cog.3 Q00975 OTTHUMG00000021002 ENST00000371372.1:c.6773C>T 9.37:g.141016204C>T ENSP00000360423:p.Pro2258Leu B1AQK5 ENST00000371372.1 37 CCDS59522.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 24.2|24.2 4.507888|4.507888 0.85282|0.85282 .|. .|. ENSG00000148408|ENSG00000148408 ENST00000277551|ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355 D|D;D;D;D;D 0.96587|0.99005 -4.06|-4.9;-5.32;-4.91;-4.89;-4.88 5.11|5.11 5.11|5.11 0.69529|0.69529 .|. .|0.652243 .|0.14374 .|N .|0.323603 D|D 0.99227|0.99227 0.9731|0.9731 M|M 0.75264|0.75264 2.295|2.295 0.80722|0.80722 D|D 1|1 .|D;D .|0.89917 .|1.0;0.999 .|D;P .|0.71656 .|0.974;0.904 D|D 0.99878|0.99878 1.1107|1.1107 7|10 0.10111|0.87932 T|D 0.7|0 .|. 18.5267|18.5267 0.90975|0.90975 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|2257;2256 .|B1AQK7;B1AQK6 .|.;. F|L 2196|2258;1452;2256;2257;2259 ENSP00000277551:L2196F|ENSP00000360423:P2258L;ENSP00000277549:P1452L;ENSP00000360414:P2256L;ENSP00000360408:P2257L;ENSP00000360406:P2259L ENSP00000277551:L2196F|ENSP00000277549:P1452L L|P +|+ 1|2 0|0 CACNA1B|CACNA1B 140136025|140136025 1.000000|1.000000 0.71417|0.71417 0.996000|0.996000 0.52242|0.52242 0.813000|0.813000 0.45954|0.45954 7.213000|7.213000 0.77950|0.77950 2.381000|2.381000 0.81170|0.81170 0.555000|0.555000 0.69702|0.69702 CTT|CCT CACNA1B-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055380.1 25.429891 0 9 64 0 0 1 0 NM_000718 10 27.529615 29 0.256410 GNA11 2767 broad.mit.edu hg19 19 3118942 3118942 + Missense_Mutation SNP A A T TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 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 46.184060 0 -28 53 0 0 1 0 NM_002067 16 47.364860 32 0.333333 DENND6A 201627 broad.mit.edu hg19 3 57627390 57627390 + Silent SNP A A G TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr3:57627390A>G ENST00000311128.5 - 12 1192 c.1122T>C c.(1120-1122)ctT>ctC p.L374L RP11-755B10.2_ENST00000470427.1_RNA NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A CTGTAGGTTTAAGGTCTCCTA 0.363 0 138.0 129.0 132.0 3 57627390 2203 4300 6503 SO:0001819 synonymous_variant AK074156 CCDS33773.1 3p14.3 2013-10-11 2012-10-03 2012-10-03 ENSG00000174839 ENSG00000174839 """DENN/MADD domain containing""" 26635 protein-coding gene gene with protein product """family with sequence similarity 116, member A""" FAM116A 21330364 Standard NM_152678 Approved FLJ34969, AFI1A uc003dja.3 Q8IWF6 OTTHUMG00000158639 ENST00000311128.5:c.1122T>C 3.37:g.57627390A>G Q7Z5T4|Q8N235|Q8TEG8 ENST00000311128.5 37 CCDS33773.1 . . . . . . . . . . A 8.747 0.920335 0.17982 . . ENSG00000174839 ENST00000477344 . . . 5.26 2.71 0.32032 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . -18.1716 1.7721 0.03014 0.4697:0.2671:0.1344:0.1288 . . . . Q 143 . . X - 1 0 FAM116A 57602430 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.342000 0.33919 0.335000 0.23614 0.477000 0.44152 TAA DENND6A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351594.1 37.351572 0 -30 57 0 0 1 0 NM_152678 13 40.481135 40 0.245283 OSM 5008 broad.mit.edu hg19 22 30661053 30661053 + Missense_Mutation SNP G G T rs149963275 TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr22:30661053G>T ENST00000215781.2 - 2 155 c.115C>A c.(115-117)Ctt>Att p.L39I OSM_ENST00000403389.1_Missense_Mutation_p.L18I|OSM_ENST00000403463.1_Intron NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 39 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) AGCTGGCCAAGGAGCACGCGG 0.577 0 146.0 134.0 138.0 22 30661053 2203 4300 6503 SO:0001583 missense AF129855 CCDS13873.1 22q12.2 2011-07-21 ENSG00000099985 ENSG00000099985 8506 protein-coding gene gene with protein product 165095 1717982 Standard NM_020530 Approved MGC20461 uc003ahb.3 P13725 OTTHUMG00000150913 ENST00000403389.1:c.52C>A 22.37:g.30661053G>T ENSP00000383893:p.Leu18Ile Q6FHP8|Q9UCP6 ENST00000403389.1 37 . . . . . . . . . . G 19.45 3.829116 0.71258 . . ENSG00000099985 ENST00000215781;ENST00000403389 T 0.61392 0.11 3.69 3.69 0.42338 Four-helical cytokine-like, core (1);Four-helical cytokine, core (1); 0.000000 0.33364 N 0.004993 T 0.63593 0.2524 L 0.34521 1.04 0.80722 D 1 D 0.76494 0.999 D 0.83275 0.996 T 0.65372 -0.6184 10 0.62326 D 0.03 -21.8977 11.2324 0.48920 0.0:0.0:1.0:0.0 . 39 P13725 ONCM_HUMAN I 39;18 ENSP00000215781:L39I ENSP00000215781:L39I L - 1 0 OSM 28991053 0.980000 0.34600 0.642000 0.29436 0.098000 0.18820 1.876000 0.39588 2.372000 0.80975 0.561000 0.74099 CTT OSM-003 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000320514.1 12.855980 1 0 147 0 4.68919e-08 1 4.90233e-08 NM_020530 11 26.173316 82 0.118280 ARAP3 64411 broad.mit.edu hg19 5 141059986 141059986 + Missense_Mutation SNP T T G TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr5:141059986T>G ENST00000239440.4 - 2 133 c.68A>C c.(67-69)gAc>gCc p.D23A ARAP3_ENST00000508305.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 23 SAM. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TCGGAACGTGTCTGCATACTG 0.672 0 43.0 42.0 42.0 5 141059986 2203 4299 6502 SO:0001583 missense AJ310567 CCDS4266.1 5q31.3 2013-01-11 2008-09-22 2008-09-22 ENSG00000120318 ENSG00000120318 """ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing""" 24097 protein-coding gene gene with protein product 606647 """centaurin, delta 3""" CENTD3 11804589, 12015138 Standard XM_005268497 Approved FLJ21065, DRAG1 uc003llm.3 Q8WWN8 OTTHUMG00000129610 ENST00000239440.4:c.68A>C 5.37:g.141059986T>G ENSP00000239440:p.Asp23Ala B4DIT1|D3DQE3 ENST00000239440.4 37 CCDS4266.1 . . . . . . . . . . T 17.91 3.505405 0.64410 . . ENSG00000120318 ENST00000239440;ENST00000504448 D;D 0.86956 -2.19;-2.19 4.39 4.39 0.52855 Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1); 0.000000 0.64402 D 0.000001 D 0.88869 0.6554 L 0.55834 1.745 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.85687 0.1304 10 0.02654 T 1 . 11.0754 0.48027 0.0:0.0:0.0:1.0 . 23 Q8WWN8 ARAP3_HUMAN A 23 ENSP00000239440:D23A;ENSP00000421148:D23A ENSP00000239440:D23A D - 2 0 ARAP3 141040170 1.000000 0.71417 1.000000 0.80357 0.918000 0.54935 4.432000 0.59922 1.842000 0.53543 0.379000 0.24179 GAC ARAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251805.1 3.469072 0 -12 55 0 0 1 0 NM_022481 4 10.117667 37 0.097561 SPAG16 79582 broad.mit.edu hg19 2 214794781 214794781 + Missense_Mutation SNP G G A TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr2:214794781G>A ENST00000331683.5 + 12 1407 c.1312G>A c.(1312-1314)Gca>Aca p.A438T SPAG16_ENST00000374309.3_Missense_Mutation_p.A344T NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 438 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) ACACAGCCGCGCAGTGTGGTC 0.443 0 111.0 110.0 110.0 2 214794781 2203 4300 6503 SO:0001583 missense AF310672 CCDS2396.1, CCDS46508.1 2q34 2013-05-21 ENSG00000144451 ENSG00000144451 """WD repeat domain containing""" 23225 protein-coding gene gene with protein product 612173 12391165, 11867345 Standard NM_024532 Approved PF20, FLJ22724, DKFZp666P1710, WDR29 uc002veq.4 Q8N0X2 OTTHUMG00000133015 ENST00000331683.5:c.1312G>A 2.37:g.214794781G>A ENSP00000332592:p.Ala438Thr Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601 ENST00000331683.5 37 CCDS2396.1 . . . . . . . . . . G 17.87 3.495707 0.64186 . . ENSG00000144451 ENST00000331683;ENST00000374309 T;T 0.59364 0.27;0.27 5.48 5.48 0.80851 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.350989 0.24737 N 0.036001 T 0.65729 0.2719 L 0.38953 1.18 0.53005 D 0.999965 D;D;P;D 0.76494 0.999;0.999;0.869;0.999 D;D;B;D 0.65773 0.938;0.923;0.418;0.938 T 0.58901 -0.7554 10 0.20519 T 0.43 . 17.8902 0.88870 0.0:0.0:1.0:0.0 . 344;289;378;438 B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2 .;.;.;SPG16_HUMAN T 438;344 ENSP00000332592:A438T;ENSP00000363428:A344T ENSP00000332592:A438T A + 1 0 SPAG16 214503026 1.000000 0.71417 0.890000 0.34922 0.148000 0.21650 4.875000 0.63072 2.550000 0.86006 0.655000 0.94253 GCA SPAG16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256601.2 7.749510 0 -6 86 0 0 1 0 NM_024532 8 19.263683 67 0.106667 OR9A4 130075 broad.mit.edu hg19 7 141618729 141618729 + Silent SNP C C A TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr7:141618729C>A ENST00000548136.1 + 1 113 c.54C>A c.(52-54)ggC>ggA p.G18G MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) GCTTCCCTGGCTCTGAAGAAC 0.373 0 240.0 245.0 243.0 7 141618729 2131 4271 6402 SO:0001819 synonymous_variant CCDS43661.1 7q34 2012-10-03 ENSG00000258083 ENSG00000258083 """GPCR / Class A : Olfactory receptors""" 15095 protein-coding gene gene with protein product Standard NM_001001656 Approved uc003vwu.1 Q8NGU2 OTTHUMG00000158370 ENST00000548136.1:c.54C>A 7.37:g.141618729C>A B9EGV6|Q6IFI4 ENST00000548136.1 37 CCDS43661.1 OR9A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350806.3 2.536394 1 16 184 0 1.61879e-10 1 1.77296e-10 NM_001001656 11 24.507603 116 0.086614 OR5B21 219968 broad.mit.edu hg19 11 58274720 58274720 + Missense_Mutation SNP A A G TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr11:58274720A>G ENST00000360374.2 - 1 858 c.859T>C c.(859-861)Tac>Cac p.Y287H NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTAAGGCTGTATATCAAGGGA 0.418 0 145.0 142.0 143.0 11 58274720 2201 4295 6496 SO:0001583 missense CCDS31552.1 11q12.1 2012-08-09 ENSG00000198283 ENSG00000198283 """GPCR / Class A : Olfactory receptors""" 19616 protein-coding gene gene with protein product Standard NM_001005218 Approved uc010rki.2 A6NL26 OTTHUMG00000167519 ENST00000360374.2:c.859T>C 11.37:g.58274720A>G ENSP00000353537:p.Tyr287His ENST00000360374.2 37 CCDS31552.1 . . . . . . . . . . A 20.7 4.036007 0.75617 . . ENSG00000198283 ENST00000360374 T 0.61859 0.07 4.84 4.84 0.62591 GPCR, rhodopsin-like superfamily (1); 0.000000 0.33691 U 0.004646 D 0.84110 0.5400 H 0.98218 4.175 0.44388 D 0.997297 D 0.89917 1.0 D 0.97110 1.0 D 0.89643 0.3864 10 0.87932 D 0 -1.8995 13.392 0.60829 1.0:0.0:0.0:0.0 . 287 A6NL26 OR5BL_HUMAN H 287 ENSP00000353537:Y287H ENSP00000353537:Y287H Y - 1 0 OR5B21 58031296 1.000000 0.71417 0.996000 0.52242 0.973000 0.67179 8.918000 0.92759 2.024000 0.59613 0.533000 0.62120 TAC OR5B21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394891.1 37.508965 0 -25 171 0 0 1 0 NM_001005218 20 55.648400 124 0.138889 HSD17B7 51478 broad.mit.edu hg19 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) TCATCTCGCAGTGCAAGGAAA 0.458 4 76.0 70.0 72.0 1 162769603 2203 4300 6503 SO:0001583 missense AF098786 CCDS1242.1 1q23 2011-09-14 ENSG00000132196 ENSG00000132196 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2""" 5215 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 37C, member 1""" 606756 10544267, 10419022, 19027726 Standard NM_016371 Approved PRAP, SDR37C1 uc001gci.3 P56937 OTTHUMG00000034420 ENST00000254521.3:c.518G>A 1.37:g.162769603G>A ENSP00000254521:p.Ser173Asn Q5T246|Q7Z4V9|Q8WWS2|Q9UF00 ENST00000254521.3 37 CCDS1242.1 . . . . . . . . . . A 0.896 -0.723912 0.03158 . . ENSG00000132196 ENST00000367917;ENST00000254521;ENST00000413934 T;T;T 0.76578 2.88;-1.03;2.88 4.44 3.31 0.37934 NAD(P)-binding domain (1); 0.000000 0.85682 N 0.000000 T 0.27205 0.0667 N 0.04705 -0.18 0.09310 N 0.999993 B 0.02656 0.0 B 0.04013 0.001 T 0.06917 -1.0800 9 0.05833 T 0.94 -30.7352 7.9369 0.29935 0.8252:0.0:0.1748:0.0 . 173 P56937 DHB7_HUMAN N 173;173;26 ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N ENSP00000254521:S173N S + 2 0 HSD17B7 161036227 1.000000 0.71417 0.991000 0.47740 0.478000 0.33099 4.183000 0.58317 0.241000 0.21283 -1.007000 0.02485 AGT HSD17B7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083207.1 -7.666666 0 -24 36 0 0 1 0 NM_016371 4 8.407219 72 0.052632 SGSM3 27352 broad.mit.edu hg19 22 40801734 40801734 + Missense_Mutation SNP G G A TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr22:40801734G>A ENST00000248929.9 + 8 889 c.700G>A c.(700-702)Gcc>Acc p.A234T SGSM3_ENST00000454798.2_Missense_Mutation_p.A167T NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 234 Rab-GAP TBC. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 CCTGCTCCCCGCCTCCTACTT 0.647 0 104.0 105.0 104.0 22 40801734 2203 4300 6503 SO:0001583 missense AL022238 CCDS14002.1 22q13.1-q13.2 2013-07-09 2007-08-14 2007-08-14 ENSG00000100359 ENSG00000100359 """Small G protein signaling modulators""" 25228 protein-coding gene gene with protein product """RUN and SH3 containing 3""" 610440 """RUN and TBC1 domain containing 3""" RUTBC3 11214971, 17509819 Standard XM_005261572 Approved DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5 uc003ayu.1 Q96HU1 OTTHUMG00000151141 ENST00000248929.9:c.700G>A 22.37:g.40801734G>A ENSP00000248929:p.Ala234Thr ENST00000248929.9 37 CCDS14002.1 . . . . . . . . . . G 11.70 1.716676 0.30413 . . ENSG00000100359 ENST00000457767;ENST00000248929;ENST00000545416;ENST00000454798 T;T;T 0.11277 2.79;2.79;2.79 4.78 4.78 0.61160 Rab-GAP/TBC domain (4); 0.114380 0.64402 D 0.000013 T 0.16171 0.0389 L 0.55834 1.745 0.46356 D 0.999005 P;P;P;B;B 0.46952 0.746;0.746;0.887;0.16;0.16 B;B;B;B;B 0.43658 0.426;0.426;0.3;0.106;0.106 T 0.01940 -1.1243 10 0.39692 T 0.17 . 18.1887 0.89800 0.0:0.0:1.0:0.0 . 171;167;234;234;234 B4DVE3;B4DMS2;Q96HU1-2;B9A6J5;Q96HU1 .;.;.;.;SGSM3_HUMAN T 167;234;177;167 ENSP00000399249:A167T;ENSP00000248929:A234T;ENSP00000390998:A167T ENSP00000248929:A234T A + 1 0 SGSM3 39131680 1.000000 0.71417 0.995000 0.50966 0.419000 0.31324 6.923000 0.75817 2.401000 0.81631 0.313000 0.20887 GCC SGSM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321504.2 -23.810351 0 -24 131 0 0 1 0 NM_015705 4 6.707913 123 0.031496 SPAG5 10615 broad.mit.edu hg19 17 26906802 26906802 + Nonsense_Mutation SNP G G A TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr17:26906802G>A ENST00000321765.5 - 17 3183 c.2851C>T c.(2851-2853)Cga>Tga p.R951* NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 951 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) GATGCTACTCGGGTGAAAGCA 0.502 0 149.0 153.0 152.0 17 26906802 2203 4300 6503 SO:0001587 stop_gained AF063308 CCDS32594.1 17q11.2 2008-07-18 ENSG00000076382 ENSG00000076382 13452 protein-coding gene gene with protein product """mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126""" 615562 11549262 Standard NM_006461 Approved DEEPEST, MAP126, hMAP126 uc002hbq.3 Q96R06 OTTHUMG00000166586 ENST00000321765.5:c.2851C>T 17.37:g.26906802G>A ENSP00000323300:p.Arg951* O95213|Q9BWE8|Q9NT17|Q9UFE6 ENST00000321765.5 37 CCDS32594.1 . . . . . . . . . . g 41 8.587239 0.98875 . . ENSG00000076382 ENST00000321765 . . . 5.4 3.38 0.38709 . 0.148155 0.30365 N 0.009799 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -7.7226 10.8941 0.47012 0.0:0.0:0.6404:0.3596 . . . . X 951 . ENSP00000323300:R951X R - 1 2 SPAG5 23930929 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 0.605000 0.24179 0.813000 0.34350 0.645000 0.84053 CGA SPAG5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390564.2 14.622097 0 -41 140 0 0 1 0 NM_006461 12 31.266820 98 0.109091 CADM3 57863 broad.mit.edu hg19 1 159162404 159162404 + Missense_Mutation SNP C C T TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr1:159162404C>T ENST00000368125.4 + 3 423 c.266C>T c.(265-267)aCg>aTg p.T89M CADM3_ENST00000368124.4_Missense_Mutation_p.T123M NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 89 Ig-like V-type. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GTTACCTCTACGCCCCACGAG 0.507 1 143.0 119.0 127.0 1 159162404 2203 4300 6503 SO:0001583 missense AY046418 CCDS1182.1, CCDS44251.1 1q21.2-q22 2013-01-29 2007-02-07 2007-02-07 ENSG00000162706 ENSG00000162706 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 17601 protein-coding gene gene with protein product """nectin-like 1""" 609743 """immunoglobulin superfamily, member 4B""" IGSF4B 11536053 Standard NM_021189 Approved BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1 uc001ftk.2 Q8N126 OTTHUMG00000037177 ENST00000368124.4:c.368C>T 1.37:g.159162404C>T ENSP00000357106:p.Thr123Met Q8IZQ9|Q9NVJ5|Q9UJP1 ENST00000368124.4 37 CCDS1182.1 . . . . . . . . . . C 13.99 2.402662 0.42613 . . ENSG00000162706 ENST00000368124;ENST00000368125;ENST00000416746 D;D;D 0.84660 -1.88;-1.88;-1.88 5.22 5.22 0.72569 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.068114 0.56097 D 0.000036 D 0.87458 0.6182 L 0.61218 1.895 0.28871 N 0.894971 D;D;D 0.89917 1.0;1.0;1.0 P;D;P 0.71656 0.89;0.974;0.905 T 0.83035 -0.0160 10 0.87932 D 0 . 11.9319 0.52851 0.0:0.8253:0.1747:0.0 . 89;89;123 Q8N126-3;Q8N126;Q8N126-2 .;CADM3_HUMAN;. M 123;89;89 ENSP00000357106:T123M;ENSP00000357107:T89M;ENSP00000387802:T89M ENSP00000357106:T123M T + 2 0 CADM3 157429028 0.921000 0.31238 0.077000 0.20336 0.089000 0.18198 5.400000 0.66320 2.708000 0.92522 0.650000 0.86243 ACG CADM3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000090331.1 20.913589 0 12 76 0 0 1 0 NM_021189 10 27.454489 51 0.163934 TTC18 118491 broad.mit.edu hg19 10 75053041 75053041 + Missense_Mutation SNP C C T TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr10:75053041C>T ENST00000401621.2 - 17 2080 c.1960G>A c.(1960-1962)Gca>Aca p.A654T TTC18_ENST00000394865.1_Missense_Mutation_p.A654T|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.A123T|TTC18_ENST00000310715.3_Missense_Mutation_p.A654T|TTC18_ENST00000340329.3_Intron Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 654 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TATGCTGCTGCCATCTCAAAG 0.348 0 108.0 95.0 99.0 10 75053041 2203 4300 6503 SO:0001583 missense ENST00000355577.3:c.367G>A 10.37:g.75053041C>T ENSP00000347781:p.Ala123Thr C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31 ENST00000355577.3 37 . . . . . . . . . . C 26.8 4.767914 0.90020 . . ENSG00000156042 ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865 D;D;T;D 0.94232 -3.38;-3.38;-0.66;-3.38 5.63 5.63 0.86233 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 D 0.97213 0.9089 M 0.88450 2.955 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.97782 1.0233 10 0.87932 D 0 -20.0741 17.1754 0.86840 0.0:1.0:0.0:0.0 . 654 Q5T0N1 TTC18_HUMAN T 654;654;654;61;654 ENSP00000310829:A654T;ENSP00000384479:A654T;ENSP00000409527:A61T;ENSP00000378334:A654T ENSP00000310829:A654T A - 1 0 TTC18 74723047 1.000000 0.71417 1.000000 0.80357 0.870000 0.49936 6.093000 0.71422 2.632000 0.89209 0.557000 0.71058 GCA TTC18-001 KNOWN basic protein_coding protein_coding OTTHUMT00000048627.2 13.230382 0 -35 39 0 0 1 0 6 16.368563 27 0.181818 LIPI 149998 broad.mit.edu hg19 21 15554114 15554114 + Missense_Mutation SNP G G T TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr21:15554114G>T ENST00000344577.2 - 4 696 c.671C>A c.(670-672)gCa>gAa p.A224E LIPI_ENST00000536861.1_Missense_Mutation_p.A203E NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 203 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CACAAACTTTGCATCCGTGTA 0.388 0 103.0 96.0 98.0 21 15554114 2203 4300 6503 SO:0001583 missense BC028732 CCDS13564.1 21q11.2 2012-07-31 ENSG00000188992 ENSG00000188992 18821 protein-coding gene gene with protein product """membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17""" 609252 12719377 Standard XM_005260924 Approved PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C uc002yjm.3 Q6XZB0 OTTHUMG00000074258 ENST00000344577.2:c.671C>A 21.37:g.15554114G>T ENSP00000343331:p.Ala224Glu G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9 ENST00000344577.2 37 CCDS13564.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 19.05|19.05 3.752436|3.752436 0.69533|0.69533 .|. .|. ENSG00000188992|ENSG00000188992 ENST00000344577;ENST00000536861;ENST00000382981|ENST00000400211 D;D|. 0.95001|. -3.58;-3.58|. 5.46|5.46 5.46|5.46 0.80206|0.80206 .|. 0.000000|. 0.85682|. D|. 0.000000|. D|. 0.91009|. 0.7172|. H|H 0.98446|0.98446 4.235|4.235 0.52099|0.52099 D|D 0.999943|0.999943 D;D|. 0.89917|. 1.0;1.0|. D;D|. 0.97110|. 1.0;1.0|. D|. 0.94103|. 0.7364|. 10|. 0.87932|. D|. 0|. .|. 19.3027|19.3027 0.94149|0.94149 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 203;224|. G1JSG6;Q6XZB0-2|. .;.|. E|X 224;203;98|82 ENSP00000343331:A224E;ENSP00000440381:A203E|. ENSP00000343331:A224E|. A|C -|- 2|3 0|2 LIPI|LIPI 14475985|14475985 1.000000|1.000000 0.71417|0.71417 0.982000|0.982000 0.44146|0.44146 0.375000|0.375000 0.29983|0.29983 8.714000|8.714000 0.91412|0.91412 2.733000|2.733000 0.93635|0.93635 0.655000|0.655000 0.94253|0.94253 GCA|TGC LIPI-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000157810.2 4.903207 1 0 52 0 5.9392e-07 1 5.9392e-07 NM_198996 6 14.240812 53 0.101695 DDR2 4921 broad.mit.edu hg19 1 162737092 162737092 + Silent SNP C C T TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr1:162737092C>T ENST00000367922.3 + 12 1674 c.1236C>T c.(1234-1236)ctC>ctT p.L412L DDR2_ENST00000367921.3_Silent_p.L412L NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCTTTATCCTCCTGGCCATCA 0.483 0 166.0 149.0 154.0 1 162737092 2203 4300 6503 SO:0001819 synonymous_variant AK095975 CCDS1241.1 1q12-q23 2009-07-10 2008-01-23 ENSG00000162733 ENSG00000162733 2731 protein-coding gene gene with protein product 191311 """discoidin domain receptor family, member 2""" TYRO10, NTRKR3 9659899 Standard XM_005245221 Approved TKT uc001gcg.3 Q16832 OTTHUMG00000034423 ENST00000367922.3:c.1236C>T 1.37:g.162737092C>T Q7Z730 ENST00000367922.3 37 CCDS1241.1 . . . . . . . . . . C 10.68 1.417808 0.25552 . . ENSG00000162733 ENST00000433757 . . . 5.79 -2.79 0.05841 . . . . . T 0.19685 0.0473 . . . 0.30974 N 0.7227589999999999 . . . . . . T 0.23904 -1.0175 3 . . . . 8.0521 0.30583 0.0:0.1749:0.5007:0.3243 . . . . S 5 . . P + 1 0 DDR2 161003716 0.478000 0.25917 0.987000 0.45799 0.998000 0.95712 -0.415000 0.07106 -0.133000 0.11537 0.655000 0.94253 CCT DDR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083213.2 53.331744 0 -21 79 0 0 1 0 NM_006182 21 58.639751 66 0.241379 OGFR 11054 broad.mit.edu hg19 20 61444363 61444363 + Frame_Shift_Del DEL G G - TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr20:61444363delG ENST00000370461.1 + 5 3517 c.1240delG c.(1240-1242)gggfs p.G414fs OGFR_ENST00000290291.6_Frame_Shift_Del_p.G466fs Q9NZT2 OGFR_HUMAN opioid growth factor receptor 466 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) TGAGGGTGCTGGGGACAGTGC 0.697 0 33.0 37.0 36.0 20 61444363 2193 4292 6485 SO:0001589 frameshift_variant AF109134 CCDS13504.1 20q13.3 2008-05-02 ENSG00000060491 ENSG00000060491 15768 protein-coding gene gene with protein product 606459 10677613 Standard NM_007346 Approved 7-60 uc002ydj.3 Q9NZT2 OTTHUMG00000032937 ENST00000290291.6:c.1396delG 20.37:g.61444363delG ENSP00000290291:p.Gly466fs O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4 ENST00000290291.6 37 CCDS13504.1 OGFR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080067.1 . . -1 12 2 4 0.33 SRSF2 6427 broad.mit.edu hg19 17 74732373 74732390 + In_Frame_Del DEL GATCTGGAGACCGACGAG GATCTGGAGACCGACGAG - TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr17:74732373_74732390delGATCTGGAGACCGACGAG ENST00000392485.2 - 2 691_708 c.519_536delCTCGTCGGTCTCCAGATC c.(517-537)tcctcgtcggtctccagatct>tct p.173_179SSSVSRS>S SRSF2_ENST00000508921.3_In_Frame_Del_p.161_167SSSVSRS>S|SRSF2_ENST00000359995.5_In_Frame_Del_p.173_179SSSVSRS>S|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 173 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 CCGCGAACGAGATCTGGAGACCGACGAGGACTTGGACT 0.615 2 SO:0001651 inframe_deletion M90104 CCDS11749.1 17q25.2 2014-09-17 2010-06-22 2010-06-22 ENSG00000161547 ENSG00000161547 """Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing""" 10783 protein-coding gene gene with protein product """SR splicing factor 2""" 600813 """splicing factor, arginine/serine-rich 2""" SFRS2 8530103, 20516191 Standard NM_003016 Approved SC-35, SC35, PR264, SFRS2A uc002jsv.3 Q01130 ENST00000392485.2:c.519_536delCTCGTCGGTCTCCAGATC 17.37:g.74732373_74732390delGATCTGGAGACCGACGAG ENSP00000376276:p.Ser173_Arg178del B3KWD5|B4DN89|H0YG49 ENST00000392485.2 37 CCDS11749.1 SRSF2-003 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437489.1 . . -19 72 NM_003016 10 56 0.15 BAP1 8314 broad.mit.edu hg19 3 52441252 52441252 + Missense_Mutation SNP T T C TCGA-WC-A888-01A-11D-A39W-08 TCGA-WC-A888-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 1fcd43d1-6d9e-483d-bbf1-5729efbc8b18 b43e1b51-25e9-44bb-a804-0159be269c75 g.chr3:52441252T>C ENST00000460680.1 - 7 989 c.518A>G c.(517-519)tAt>tGt p.Y173C BAP1_ENST00000296288.5_Missense_Mutation_p.Y173C NM_004656.2 NP_004647.1 Q99496 RING2_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 0 Interaction with HIP2. 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) GATAGGCACATAGCTGACAAA 0.582 1 80.0 78.0 79.0 3 52441252 2203 4300 6503 SO:0001583 missense 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.518A>G 3:g.52441252T>C ENSP00000417132:p.Tyr173Cys B2RBS7|B3KRH1|Q5TEN1|Q5TEN2 ENST00000460680.1 CCDS2853.1 . . . . . . . . . . T 24.1 4.489191 0.84962 . . ENSG00000163930 ENST00000460680;ENST00000296288;ENST00000470173 T;T;T 0.61859 0.07;0.07;0.07 6.05 6.05 0.98169 Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3); 0.000000 0.85682 D 0.000000 T 0.82084 0.4960 M 0.92077 3.27 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.86417 0.1752 10 0.87932 D 0 -9.1034 16.6 0.84812 0.0:0.0:0.0:1.0 . 173 Q92560 BAP1_HUMAN C 173;173;94 ENSP00000417132:Y173C;ENSP00000296288:Y173C;ENSP00000417776:Y94C ENSP00000296288:Y173C Y - 2 0 BAP1 52416292 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 8.005000 0.88553 2.323000 0.78572 0.533000 0.62120 TAT BAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350895.1 1.023000e+01 1.158000e+01 -29 39 4 21 1.820000e-01