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 LCE4A 199834 broad.mit.edu hg19 1 152681848 152681848 + Silent SNP C C T TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr1:152681848C>T ENST00000368777.1 + 2 553 c.297C>T c.(295-297)tgC>tgT p.C99C LCE4A_ENST00000335535.3_Silent_p.C99C Q5TA78 LCE4A_HUMAN late cornified envelope 4A 99 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) GGGGCTGTTGCTGACCTGGAC 0.567 0 22.0 25.0 24.0 1 152681848 2201 4298 6499 SO:0001819 synonymous_variant BI670517 CCDS1022.1 1q22 2008-02-05 2004-10-11 2004-10-15 ENSG00000187170 ENSG00000187170 """Late cornified envelopes""" 16613 protein-coding gene gene with protein product 612618 """small proline rich-like (epidermal differentiation complex) 4A""" SPRL4A 11698679 Standard NM_178356 Approved LEP8 uc001fak.2 Q5TA78 OTTHUMG00000014394 ENST00000368777.1:c.297C>T 1.37:g.152681848C>T Q14D97 ENST00000368777.1 37 CCDS1022.1 LCE4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040048.1 69.783520 0 -1 37 0 0 1 0 NM_178356 21 70.323531 12 0.636364 AKAP13 11214 hgsc.bcm.edu hg19 15 86125034 86125034 + Silent SNP A A G TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 A A . . . . Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b CTAAGGGGGCAGACTTGATAG 0.592 0 43.0 42.0 42.0 15 86125034 2202 4299 6501 SO:0001819 synonymous_variant M90360 CCDS32319.1, CCDS32320.1, CCDS73778.1 15q24-q25 2013-01-10 2002-06-13 ENSG00000170776 """A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing""" 371 protein-coding gene gene with protein product 604686 """lymphoid blast crisis oncogene""" LBC 9627117, 1860836 Standard NM_007200 Approved Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13 uc002blu.2 Q12802 ENST00000361243.2:c.3735A>G 15.37:g.86125034A>G Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6 ENST00000361243.2 37 CCDS32320.1 AKAP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000417319.1 14 45 NM_007200 9 26 WTIP 126374 broad.mit.edu hg19 19 34991049 34991049 + Silent SNP C C T TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr19:34991049C>T ENST00000590071.2 + 8 1505 c.1168C>T c.(1168-1170)Ctg>Ttg p.L390L WTIP_ENST00000270288.6_Silent_p.L614L NM_001080436.1 NP_001073905.1 Wilms tumor 1 interacting protein NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CGGGCTGCAGCTGAGCGGGGA 0.682 0 30.0 37.0 35.0 19 34991049 2144 4246 6390 SO:0001819 synonymous_variant AK130059 CCDS59375.1 19q13.11 2012-03-16 ENSG00000142279 ENSG00000142279 20964 protein-coding gene gene with protein product """WT1-interacting protein""" 614790 14736876 Standard NM_001080436 Approved uc002nvm.3 A6NIX2 ENST00000590071.2:c.1168C>T 19.37:g.34991049C>T ENST00000590071.2 37 CCDS59375.1 WTIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459381.3 13.567065 0 -5 33 0 0 1 0 XM_059037 5 14.366950 13 0.277778 SLC6A4 6532 broad.mit.edu hg19 17 28525481 28525481 + Missense_Mutation SNP G G A TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr17:28525481G>A ENST00000401766.2 - 14 2398 c.1886C>T c.(1885-1887)gCt>gTt p.A629V SLC6A4_ENST00000261707.3_Missense_Mutation_p.A629V P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 629 Required for serotonin uptake activity. response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 GTGTTACACAGCATTCAAGCG 0.443 0 136.0 124.0 128.0 17 28525481 2203 4300 6503 SO:0001583 missense L05568 CCDS11256.1 17q11.2 2014-01-30 2013-07-19 ENSG00000108576 ENSG00000108576 """Solute carriers""" 11050 protein-coding gene gene with protein product """serotonin transporter 1""" 182138 """solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1""" HTT, OCD1 7681602, 19806148 Standard NM_001045 Approved 5-HTT, SERT1 uc002hey.5 P31645 OTTHUMG00000132751 ENST00000401766.2:c.1886C>T 17.37:g.28525481G>A ENSP00000385822:p.Ala629Val Q5EE02 ENST00000401766.2 37 CCDS11256.1 . . . . . . . . . . G 16.88 3.244033 0.58995 . . ENSG00000108576 ENST00000394821;ENST00000401766;ENST00000261707 T;T 0.75938 -0.98;-0.98 6.06 4.01 0.46588 . 0.322504 0.34700 N 0.003760 T 0.54615 0.1869 N 0.08118 0 0.35298 D 0.782778 B 0.06786 0.001 B 0.06405 0.002 T 0.58205 -0.7677 10 0.66056 D 0.02 . 11.1053 0.48199 0.1549:0.0:0.8451:0.0 . 629 P31645 SC6A4_HUMAN V 671;629;629 ENSP00000385822:A629V;ENSP00000261707:A629V ENSP00000261707:A629V A - 2 0 SLC6A4 25549607 0.997000 0.39634 0.970000 0.41538 0.849000 0.48306 2.297000 0.43593 0.820000 0.34516 -0.345000 0.07892 GCT SLC6A4-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256115.3 -6.307910 0 -9 70 0 0 1 0 NM_001045 3 6.562306 57 0.050000 LRRN3 54674 broad.mit.edu hg19 7 110763686 110763686 + Silent SNP A A G TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr7:110763686A>G ENST00000451085.1 + 4 1904 c.858A>G c.(856-858)ttA>ttG p.L286L IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L286L|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Silent_p.L286L|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 286 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) TGCTACACTTAAAAGAGTTGG 0.328 0 58.0 62.0 60.0 7 110763686 2203 4300 6503 SO:0001819 synonymous_variant AB060967 CCDS5754.1 7q31.1 2013-02-11 ENSG00000173114 ENSG00000173114 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 17200 protein-coding gene gene with protein product """fibronectin type III, immunoglobulin and leucine rich repeat domains 5""" 11549284 Standard NM_001099660 Approved NLRR3, FLJ11129, FIGLER5 uc003vfs.4 Q9H3W5 OTTHUMG00000155039 ENST00000422987.3:c.858A>G 7.37:g.110763686A>G O43377|Q6I9V8|Q8IYQ6 ENST00000422987.3 37 CCDS5754.1 LRRN3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000338171.2 73.747393 0 -3 62 0 0 1 0 NM_018334 22 73.819709 26 0.458333 ZDHHC6 64429 broad.mit.edu hg19 10 114192275 114192275 + Missense_Mutation SNP C C T TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr10:114192275C>T ENST00000369405.3 - 9 1373 c.950G>A c.(949-951)cGc>cAc p.R317H ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.R313H NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 317 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) TACTTTATAGCGAACCTGTCG 0.378 0 83.0 80.0 81.0 10 114192275 2203 4300 6503 SO:0001583 missense AK025605 CCDS7574.1 10q26.11 2008-05-02 ENSG00000023041 ENSG00000023041 """Zinc fingers, DHHC-type""" 19160 protein-coding gene gene with protein product Standard NM_022494 Approved ZNF376, FLJ21952 uc001kzv.3 Q9H6R6 OTTHUMG00000019062 ENST00000369405.3:c.950G>A 10.37:g.114192275C>T ENSP00000358413:p.Arg317His D3DRB6|Q53G45|Q96IV7|Q9H605 ENST00000369405.3 37 CCDS7574.1 . . . . . . . . . . C 13.98 2.399861 0.42512 0.0 1.16E-4 ENSG00000023041 ENST00000369405;ENST00000369404 T;T 0.08634 3.07;3.07 5.87 2.0 0.26442 Src homology-3 domain (1);Variant SH3 (1); 0.053590 0.85682 D 0.000000 T 0.10208 0.0250 M 0.62723 1.935 0.41894 D 0.990388 B;B 0.18013 0.025;0.018 B;B 0.12837 0.007;0.008 T 0.08166 -1.0735 10 0.45353 T 0.12 -0.9313 10.9445 0.47294 0.0:0.7482:0.0:0.2518 . 313;317 Q9H6R6-2;Q9H6R6 .;ZDHC6_HUMAN H 317;313 ENSP00000358413:R317H;ENSP00000358412:R313H ENSP00000358412:R313H R - 2 0 ZDHHC6 114182265 1.000000 0.71417 0.995000 0.50966 0.932000 0.56968 2.915000 0.48805 0.186000 0.20125 0.655000 0.94253 CGC ZDHHC6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000050393.1 -6.323927 0 1 89 0 0 1 0 NM_022494 3 6.561881 57 0.050000 WDR90 197335 broad.mit.edu hg19 16 708649 708649 + Missense_Mutation SNP C C G TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr16:708649C>G ENST00000549091.1 + 23 2983 c.2891C>G c.(2890-2892)cCc>cGc p.P964R WDR90_ENST00000293879.4_Missense_Mutation_p.P964R NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 964 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) AGCCCAGGCCCCCAGGTGTGT 0.692 0 20.0 24.0 23.0 16 708649 2010 4142 6152 SO:0001583 missense AB067511 CCDS42092.1 16p13.3 2013-01-09 ENSG00000161996 ENSG00000161996 """WD repeat domain containing""" 26960 protein-coding gene gene with protein product """chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18""" C16orf17, C16orf15, C16orf16, C16orf19, C16orf18 11572484, 11157797 Standard XM_005255160 Approved FLJ36483, KIAA1924 uc002cii.1 Q96KV7 OTTHUMG00000048040 ENST00000293879.4:c.2891C>G 16.37:g.708649C>G ENSP00000293879:p.Pro964Arg Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18 ENST00000293879.4 37 CCDS42092.1 . . . . . . . . . . C 7.176 0.588597 0.13812 . . ENSG00000161996 ENST00000549091;ENST00000293879 T;T 0.48836 0.8;3.52 5.24 1.95 0.26073 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.427951 0.23220 U 0.050579 T 0.24812 0.0602 N 0.12663 0.25 0.80722 D 1 P;P 0.48503 0.911;0.91 P;P 0.44897 0.461;0.463 T 0.05289 -1.0894 10 0.25106 T 0.35 . 1.9304 0.03326 0.117:0.1596:0.4683:0.2551 . 964;964 F8VUX9;Q96KV7 .;WDR90_HUMAN R 964 ENSP00000448122:P964R;ENSP00000293879:P964R ENSP00000293879:P964R P + 2 0 WDR90 648650 0.989000 0.36119 0.714000 0.30535 0.417000 0.31264 1.683000 0.37638 0.602000 0.29896 0.655000 0.94253 CCC WDR90-002 NOVEL basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000404335.1 26.669676 0 -1 32 0 0 1 0 NM_145294 9 26.907726 14 0.391304 SF3B1 23451 broad.mit.edu hg19 2 198267484 198267484 + Missense_Mutation SNP G G A TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr2:198267484G>A ENST00000335508.6 - 14 1964 c.1873C>T c.(1873-1875)Cgt>Tgt p.R625C NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTGTGTTACGGACATACTCA 0.433 5 93.0 90.0 91.0 2 198267484 2203 4300 6503 SO:0001583 missense AF054284 CCDS33356.1, CCDS46479.1 2q33.1 2014-09-17 2002-08-29 ENSG00000115524 ENSG00000115524 10768 protein-coding gene gene with protein product 605590 """splicing factor 3b, subunit 1, 155kD""" 9585501 Standard XM_005246428 Approved SAP155, SF3b155, PRPF10, Prp10, Hsh155 uc002uue.3 O75533 OTTHUMG00000154447 ENST00000335508.6:c.1873C>T 2.37:g.198267484G>A ENSP00000335321:p.Arg625Cys E9PCH3 ENST00000335508.6 37 CCDS33356.1 . . . . . . . . . . G 19.68 3.873082 0.72180 . . ENSG00000115524 ENST00000335508 T 0.74421 -0.84 5.82 4.93 0.64822 Armadillo-like helical (1);Armadillo-type fold (1); 0.053241 0.64402 D 0.000001 D 0.90331 0.6975 H 0.96333 3.805 0.80722 D 1 D 0.89917 1.0 D 0.79784 0.993 D 0.93337 0.6706 10 0.87932 D 0 . 15.2676 0.73675 0.0:0.0:0.7451:0.2549 . 625 O75533 SF3B1_HUMAN C 625 ENSP00000335321:R625C ENSP00000335321:R625C R - 1 0 SF3B1 197975729 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 4.689000 0.61723 1.444000 0.47605 -0.182000 0.12963 CGT SF3B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335245.2 58.251050 0 1 55 0 0 1 0 18 58.251050 18 0.500000 PPP2R1B 5519 broad.mit.edu hg19 11 111636064 111636064 + Silent SNP T T C TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr11:111636064T>C ENST00000527614.1 - 2 224 c.159A>G c.(157-159)gcA>gcG p.A53A PPP2R1B_ENST00000341980.6_Silent_p.A53A|PPP2R1B_ENST00000393055.2_Silent_p.A53A|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Silent_p.A53A NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 53 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CTACTCCAAGTGCTAGGGCAA 0.373 0 122.0 122.0 122.0 11 111636064 2201 4297 6498 SO:0001819 synonymous_variant AF087438 CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1 11q23.1 2010-06-18 2010-04-14 ENSG00000137713 ENSG00000137713 """Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits""" 9303 protein-coding gene gene with protein product """PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform""" 603113 """protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform""" 2159327, 9795170 Standard NM_181699 Approved PR65B, PP2A-Abeta uc001plw.1 P30154 OTTHUMG00000166741 ENST00000341980.6:c.159A>G 11.37:g.111636064T>C A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8 ENST00000341980.6 37 CCDS53708.1 PPP2R1B-005 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000391300.1 162.795980 0 -8 154 0 0 1 0 NM_002716 52 162.798076 53 0.495238 CYP1A1 1543 broad.mit.edu hg19 15 75015195 75015195 + Missense_Mutation SNP G G T TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr15:75015195G>T ENST00000379727.3 - 2 442 c.244C>A c.(244-246)Ccc>Acc p.P82T CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Missense_Mutation_p.P82T|CYP1A1_ENST00000395049.4_Missense_Mutation_p.P82T|CYP1A1_ENST00000567032.1_Missense_Mutation_p.P82T P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 82 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACCACCACGGGTGTGGAGCCA 0.627 0 57.0 49.0 52.0 15 75015195 2197 4296 6493 SO:0001583 missense BC023019 CCDS10268.1 15q24.1 2007-12-14 2003-01-14 ENSG00000140465 ENSG00000140465 """Cytochrome P450s""" 2595 protein-coding gene gene with protein product 108330 """cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1""" CYP1 15128046 Standard NM_000499 Approved P450DX, P1-450, P450-C, CP11 uc002ayp.4 P04798 OTTHUMG00000142812 ENST00000395049.4:c.244C>A 15.37:g.75015195G>T ENSP00000378489:p.Pro82Thr A4F3V9|A4F3W0|Q53G18 ENST00000395049.4 37 . . . . . . . . . . G 15.03 2.712417 0.48517 . . ENSG00000140465 ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062 T;T;T 0.80994 -1.44;-1.44;-1.44 5.23 5.23 0.72850 . 0.000000 0.85682 D 0.000000 D 0.90140 0.6919 M 0.86268 2.805 0.58432 D 0.999999 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.91531 0.5242 10 0.87932 D 0 . 14.1323 0.65263 0.0747:0.0:0.9253:0.0 . 82;82 E7EMT5;P04798 .;CP1A1_HUMAN T 82 ENSP00000369050:P82T;ENSP00000378488:P82T;ENSP00000378489:P82T ENSP00000268062:P82T P - 1 0 CYP1A1 72802248 1.000000 0.71417 0.077000 0.20336 0.301000 0.27625 6.592000 0.74095 2.432000 0.82394 0.462000 0.41574 CCC CYP1A1-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000421250.1 51.976513 1 12 52 0 1.5739e-10 1 1.73957e-10 NM_000499 17 52.164169 12 0.586207 VPS13D 55187 broad.mit.edu hg19 1 12328815 12328815 + Silent SNP G G A TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr1:12328815G>A ENST00000358136.3 + 16 1984 c.1854G>A c.(1852-1854)gcG>gcA p.A618A VPS13D_ENST00000356315.4_Silent_p.A618A NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 618 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAAATCCGGCGCACAGCCACT 0.453 0 151.0 161.0 158.0 1 12328815 2203 4300 6503 SO:0001819 synonymous_variant AJ608774 CCDS30588.1, CCDS30589.1 1p36.21 2008-02-05 2006-04-04 ENSG00000048707 ENSG00000048707 23595 protein-coding gene gene with protein product 608877 """vacuolar protein sorting 13D (yeast)""" Standard NM_015378 Approved FLJ10619, KIAA0453 uc001atv.3 Q5THJ4 OTTHUMG00000013155 ENST00000358136.3:c.1854G>A 1.37:g.12328815G>A ENST00000358136.3 37 CCDS30588.1 VPS13D-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000036897.2 -31.639576 0 -1 215 0 0 1 0 NM_015378 4 6.666791 150 0.025974 ARID1B 57492 broad.mit.edu hg19 6 157222625 157222625 + Missense_Mutation SNP C C A TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr6:157222625C>A ENST00000346085.5 + 4 1893 c.1892C>A c.(1891-1893)cCg>cAg p.P631Q ARID1B_ENST00000275248.4_Missense_Mutation_p.P560Q|ARID1B_ENST00000350026.5_Missense_Mutation_p.P618Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P618Q NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 618 Gln-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGTATCTGCCGTCCCAGTCC 0.642 0 31.0 31.0 31.0 6 157222625 2203 4300 6503 SO:0001583 missense AF521671 CCDS5251.1, CCDS5251.2, CCDS55072.1 6q25.3 2014-09-17 ENSG00000049618 ENSG00000049618 """-""" 18040 protein-coding gene gene with protein product 614556 Standard NM_017519 Approved KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5 uc003qqo.3 Q8NFD5 OTTHUMG00000015890 ENST00000346085.5:c.1892C>A 6.37:g.157222625C>A ENSP00000344546:p.Pro631Gln Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5 ENST00000346085.5 37 CCDS55072.1 . . . . . . . . . . C 13.16 2.154173 0.38021 . . ENSG00000049618 ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584 T;T;T;T;T;T 0.17213 4.63;4.5;4.63;4.59;4.27;2.29 5.71 4.81 0.61882 . 0.197343 0.30762 N 0.008934 T 0.02230 0.0069 N 0.02539 -0.55 0.22811 N 0.9987 B;B;B 0.06786 0.0;0.001;0.001 B;B;B 0.08055 0.001;0.003;0.003 T 0.41233 -0.9520 10 0.30854 T 0.27 . 11.6579 0.51328 0.184:0.816:0.0:0.0 . 618;631;560 Q8NFD5;Q8NFD5-2;G3XAA0 ARI1B_HUMAN;.;. Q 631;618;618;560;39;117;40 ENSP00000344546:P631Q;ENSP00000055163:P618Q;ENSP00000356116:P618Q;ENSP00000275248:P560Q;ENSP00000412835:P117Q;ENSP00000313006:P40Q ENSP00000275248:P560Q P + 2 0 ARID1B 157264317 0.303000 0.24463 0.576000 0.28549 0.990000 0.78478 1.365000 0.34182 1.354000 0.45846 0.655000 0.94253 CCG ARID1B-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000042827.3 30.418793 1 1 25 0 0.000274275 1 0.000274275 NM_020732 8 30.414888 0 1.000000 SEC24B 10427 broad.mit.edu hg19 4 110447472 110447472 + Missense_Mutation SNP C C T TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr4:110447472C>T ENST00000265175.5 + 17 2937 c.2882C>T c.(2881-2883)gCg>gTg p.A961V SEC24B_ENST00000399100.2_Missense_Mutation_p.A926V|SEC24B_ENST00000504968.2_Missense_Mutation_p.A991V NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 961 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) GCTGGATTTGCGGTGCAGTTG 0.363 0 174.0 158.0 163.0 4 110447472 1862 4089 5951 SO:0001583 missense AJ131245 CCDS43260.1, CCDS47124.1, CCDS75179.1 4q25 2013-10-21 2013-10-21 ENSG00000138802 ENSG00000138802 10704 protein-coding gene gene with protein product 607184 """SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)""" 10075675, 10329445 Standard XM_005262688 Approved uc003hzk.3 O95487 OTTHUMG00000161372 ENST00000504968.2:c.2972C>T 4.37:g.110447472C>T ENSP00000428564:p.Ala991Val B7ZKM8|B7ZKN4|Q0VG08 ENST00000504968.2 37 . . . . . . . . . . C 35 5.421208 0.96111 . . ENSG00000138802 ENST00000504968;ENST00000399100;ENST00000265175 T;T;T 0.77098 -1.07;-1.07;-1.07 5.3 5.3 0.74995 Sec23/Sec24 beta-sandwich (1); 0.049795 0.85682 D 0.000000 D 0.84397 0.5463 L 0.46567 1.45 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.66716 0.946;0.942;0.946;0.911;0.946 T 0.82989 -0.0183 10 0.39692 T 0.17 -20.8388 19.3486 0.94374 0.0:1.0:0.0:0.0 . 875;560;991;926;961 B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487 .;.;.;.;SC24B_HUMAN V 991;926;961 ENSP00000428564:A991V;ENSP00000382051:A926V;ENSP00000265175:A961V ENSP00000265175:A961V A + 2 0 SEC24B 110666921 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 7.818000 0.86416 2.644000 0.89710 0.655000 0.94253 GCG SEC24B-003 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000364695.2 -6.176324 0 -10 116 0 0 1 0 3 6.387115 56 0.050847 GNAQ 2776 broad.mit.edu hg19 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b 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 97.542393 0 -22 90 0 0 1 0 NM_002072 30 97.853137 40 0.428571 ZNRD1-AS1 0 broad.mit.edu hg19 6 29976059 29976059 + RNA SNP T T C TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr6:29976059T>C ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA GGAGATCACATTGACCTGGCA 0.612 0 AF032110 6p21.33 2014-08-14 2012-08-15 2010-11-25 ENSG00000204623 ENSG00000204623 """Long non-coding RNAs""" 13924 non-coding RNA RNA, long non-coding 615714 """chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)""" C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS 9553157, 11130983, 25110835 Standard NR_026751 Approved HTEX4, Em:AB023056.3 uc003rto.3 Q2KJ03 OTTHUMG00000031109 6.37:g.29976059T>C ENST00000376797.3 37 ZNRD1-AS1-006 KNOWN basic|exp_conf antisense antisense OTTHUMT00000253083.1 -10.867521 0 -1 62 0 0 1 0 NR_026751 4 9.385408 87 0.043956 FMNL3 91010 broad.mit.edu hg19 12 50045720 50045720 + Frame_Shift_Del DEL T T - TCGA-VD-A8K9-01A-11D-A39W-08 TCGA-VD-A8K9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a bd4e9dce-2a02-49c6-9d80-616cd900626b g.chr12:50045720delT ENST00000335154.5 - 14 1832 c.1599delA c.(1597-1599)ttafs p.L533fs FMNL3_ENST00000550488.1_Frame_Shift_Del_p.L533fs|FMNL3_ENST00000293590.5_Frame_Shift_Del_p.L533fs|FMNL3_ENST00000352151.5_Frame_Shift_Del_p.L482fs NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 533 Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 GGTTACCTGGTAATGGGGGAG 0.632 0 11.0 14.0 13.0 12 50045720 1909 4106 6015 SO:0001589 frameshift_variant AK128195 CCDS41780.1, CCDS44874.1 12q13.12 2006-04-10 23698 protein-coding gene gene with protein product 12684686 Standard NM_198900 Approved DKFZp762B245, MGC45819, WBP3 uc001ruv.1 Q8IVF7 OTTHUMG00000169651 ENST00000352151.5:c.1446delA 12.37:g.50045720delT ENSP00000344311:p.Leu482fs B0JZA7|Q6ZRJ1 ENST00000352151.5 37 CCDS41780.1 FMNL3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405279.2 . . -3 6 NM_175736 2 4 0.33