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 RECQL5 9400 broad.mit.edu hg19 17 73623546 73623546 + Missense_Mutation SNP C C T TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr17:73623546C>T ENST00000317905.5 - 20 3091 c.2932G>A c.(2932-2934)Gag>Aag p.E978K RECQL5_ENST00000423245.2_Missense_Mutation_p.E951K|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 978 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GCTTCGCTCTCGCACCGGGCC 0.622 0 69.0 79.0 76.0 17 73623546 2033 4176 6209 SO:0001583 missense AB006533 CCDS32735.1, CCDS42380.1, CCDS45777.1 17q25 2014-03-07 2014-03-07 2014-03-07 ENSG00000108469 ENSG00000108469 9950 protein-coding gene gene with protein product """RecQ protein 5""" 603781 9878247 Standard NM_004259 Approved RecQ5, FLJ90603 uc010dgl.3 O94762 ENST00000317905.5:c.2932G>A 17.37:g.73623546C>T ENSP00000317636:p.Glu978Lys Q9H0B1|Q9P1W7|Q9UNC8 ENST00000317905.5 37 CCDS42380.1 . . . . . . . . . . C 17.90 3.501993 0.64298 . . ENSG00000108469 ENST00000443199;ENST00000423245;ENST00000317905 T 0.61510 0.1 5.23 5.23 0.72850 . 0.000000 0.85682 D 0.000000 T 0.75525 0.3861 M 0.65498 2.005 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.945;0.967;0.999 T 0.76958 -0.2766 10 0.56958 D 0.05 -30.6965 18.7978 0.92003 0.0:1.0:0.0:0.0 . 978;951;174 O94762;Q6P4G0;Q6FIC9 RECQ5_HUMAN;.;. K 573;978;978 ENSP00000317636:E978K ENSP00000317636:E978K E - 1 0 RECQL5 71135141 1.000000 0.71417 0.968000 0.41197 0.841000 0.47740 6.362000 0.73077 2.447000 0.82792 0.563000 0.77884 GAG RECQL5-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000448207.1 45.045476 0 -24 101 0 0 1 0 NM_004259 17 48.559916 49 0.257576 LYRM9 201229 broad.mit.edu hg19 17 26207284 26207284 + Missense_Mutation SNP G G C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr17:26207284G>C ENST00000460380.2 - 3 295 c.235C>G c.(235-237)Ctg>Gtg p.L79V LYRM9_ENST00000379102.3_Intron|RP11-138P22.1_ENST00000581901.1_RNA|LYRM9_ENST00000508862.1_Intron|RP1-66C13.4_ENST00000582441.1_Intron|LYRM9_ENST00000503642.1_Missense_Mutation_p.L79V|LYRM9_ENST00000379103.3_Intron LYR motif containing 9 GCAGAGCCCAGGGGCCAAGCA 0.532 0 63.0 73.0 70.0 17 26207284 2058 4217 6275 SO:0001583 missense BC018092 CCDS45631.1 17q11.2 2014-06-05 2012-10-23 2012-10-23 ENSG00000232859 ENSG00000232859 """LYR motif containing""" 27314 protein-coding gene gene with protein product """chromosome 17 open reading frame 108""" C17orf108 12477932 Standard NM_001076680 Approved HSD24 uc002gzx.3 A8MSI8 OTTHUMG00000132829 ENST00000460380.2:c.235C>G 17.37:g.26207284G>C ENSP00000464378:p.Leu79Val A6NJT7|Q6X7B8 ENST00000460380.2 37 . . . . . . . . . . G 7.191 0.591509 0.13812 . . ENSG00000232859 ENST00000503642 . . . 4.55 3.33 0.38152 . . . . . T 0.31513 0.0799 . . . 0.09310 N 1 B 0.15141 0.012 B 0.09377 0.004 T 0.18524 -1.0334 7 0.87932 D 0 . 8.4321 0.32764 0.1295:0.0:0.8705:0.0 . 88 D6RAR2 . V 88 . ENSP00000421807:L88V L - 1 2 C17orf108 23231411 0.001000 0.12720 0.003000 0.11579 0.009000 0.06853 0.423000 0.21313 2.075000 0.62263 0.655000 0.94253 CTG LYRM9-002 PUTATIVE alternative_5_UTR|basic protein_coding protein_coding OTTHUMT00000256295.4 10.125106 0 -2 10 0 0 1 0 NM_001076680 3 10.125106 3 0.500000 SEL1L3 23231 broad.mit.edu hg19 4 25819797 25819797 + Missense_Mutation SNP G G C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr4:25819797G>C ENST00000399878.3 - 9 1649 c.1527C>G c.(1525-1527)agC>agG p.S509R SEL1L3_ENST00000502949.1_Missense_Mutation_p.S356R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S474R NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 509 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CCTGGAACAAGCTGGGGTGTT 0.537 0 72.0 74.0 73.0 4 25819797 1965 4159 6124 SO:0001583 missense BC009945 CCDS47037.1, CCDS75113.1 4p15.2 2009-09-24 ENSG00000091490 ENSG00000091490 29108 protein-coding gene gene with protein product """KIAA0746 protein""" 9872452 Standard XM_005248143 Approved KIAA0746 uc003gru.4 Q68CR1 OTTHUMG00000160331 ENST00000399878.3:c.1527C>G 4.37:g.25819797G>C ENSP00000382767:p.Ser509Arg A0PJH6|A8K0X2|O94847|Q6P999|Q96G59 ENST00000399878.3 37 CCDS47037.1 . . . . . . . . . . G 10.92 1.485927 0.26686 . . ENSG00000091490 ENST00000399878;ENST00000264868;ENST00000502949 T;T;T 0.14391 2.7;2.72;2.51 5.95 2.91 0.33838 . 0.523323 0.23881 N 0.043648 T 0.11239 0.0274 L 0.51422 1.61 0.09310 N 1 B 0.28552 0.215 B 0.23275 0.045 T 0.21965 -1.0230 10 0.25106 T 0.35 -7.5726 8.2079 0.31467 0.281:0.0:0.719:0.0 . 509 Q68CR1 SE1L3_HUMAN R 509;474;356 ENSP00000382767:S509R;ENSP00000264868:S474R;ENSP00000425438:S356R ENSP00000264868:S474R S - 3 2 SEL1L3 25428895 0.669000 0.27502 0.082000 0.20525 0.513000 0.34164 0.845000 0.27668 0.867000 0.35654 0.655000 0.94253 AGC SEL1L3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360261.1 16.175053 0 -3 16 0 0 1 0 NM_015187 5 16.175053 5 0.500000 STIP1 10963 broad.mit.edu hg19 11 63971545 63971545 + Missense_Mutation SNP A A G TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr11:63971545A>G ENST00000358794.5 + 14 2273 c.1720A>G c.(1720-1722)Ata>Gta p.I574V STIP1_ENST00000305218.4_Missense_Mutation_p.I527V|STIP1_ENST00000538945.1_Missense_Mutation_p.I503V NM_001282652.1 NP_001269581.1 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 527 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 GAATCCTGTAATAGCACAGAA 0.463 0 151.0 138.0 143.0 11 63971545 2201 4297 6498 SO:0001583 missense BC039299 CCDS8058.1, CCDS60827.1, CCDS60828.1 11q13 2014-01-13 2014-01-13 ENSG00000168439 ENSG00000168439 """Tetratricopeptide (TTC) repeat domain containing""" 11387 protein-coding gene gene with protein product """Hsp70/Hsp90-organizing protein""" 605063 """stress-induced-phosphoprotein 1""" 1569099 Standard NM_006819 Approved HOP, STI1 uc001nyk.1 P31948 OTTHUMG00000167789 ENST00000358794.5:c.1720A>G 11.37:g.63971545A>G ENSP00000351646:p.Ile574Val B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9 ENST00000358794.5 37 . . . . . . . . . . A 11.76 1.734688 0.30774 . . ENSG00000168439 ENST00000358794;ENST00000305218;ENST00000538945 T;T;T 0.11495 2.77;3.04;2.81 5.34 5.34 0.76211 Heat shock chaperonin-binding (1); 0.000000 0.85682 D 0.000000 T 0.07908 0.0198 N 0.12182 0.205 0.80722 D 1 P;B 0.39862 0.692;0.391 B;B 0.42495 0.389;0.13 T 0.43861 -0.9365 10 0.11794 T 0.64 -25.6402 14.599 0.68427 1.0:0.0:0.0:0.0 . 503;527 F5H0T1;P31948 .;STIP1_HUMAN V 574;527;503 ENSP00000351646:I574V;ENSP00000305958:I527V;ENSP00000445957:I503V ENSP00000305958:I527V I + 1 0 STIP1 63728121 1.000000 0.71417 0.995000 0.50966 0.997000 0.91878 8.196000 0.89725 2.164000 0.68074 0.459000 0.35465 ATA STIP1-010 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000396930.1 104.982074 0 -3 112 0 0 1 0 NM_006819 32 106.119576 53 0.376471 KAT6A 7994 broad.mit.edu hg19 8 41790274 41790274 + Missense_Mutation SNP T T C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr8:41790274T>C ENST00000396930.3 - 18 6007 c.5464A>G c.(5464-5466)Aac>Gac p.N1822D KAT6A_ENST00000265713.2_Missense_Mutation_p.N1822D|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1822D NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1822 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GATGTGAGGTTCATGGTAGTG 0.542 0 187.0 168.0 175.0 8 41790274 2203 4300 6503 SO:0001583 missense U47742 CCDS6124.1 8p11 2013-01-28 2011-07-21 2011-07-21 ENSG00000083168 ENSG00000083168 """Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type""" 13013 protein-coding gene gene with protein product """Monocytic leukemia zinc finger protein""" 601408 """runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3""" ZNF220, RUNXBP2, MYST3 8849440, 8782817 Standard NM_001099412 Approved MOZ, ZC2HC6A uc003xon.4 Q92794 OTTHUMG00000150453 ENST00000396930.3:c.5464A>G 8.37:g.41790274T>C ENSP00000380136:p.Asn1822Asp Q76L81 ENST00000396930.3 37 CCDS6124.1 . . . . . . . . . . T 10.14 1.268958 0.23221 . . ENSG00000083168 ENST00000265713;ENST00000406337;ENST00000396930 T;T;T 0.68624 -0.34;-0.34;-0.34 5.67 5.67 0.87782 . 0.000000 0.64402 D 0.000001 T 0.57873 0.2083 L 0.27053 0.805 0.58432 D 0.999993 P 0.52316 0.952 B 0.43194 0.411 T 0.63866 -0.6540 10 0.59425 D 0.04 -22.8583 15.9132 0.79488 0.0:0.0:0.0:1.0 . 1822 Q92794 KAT6A_HUMAN D 1822 ENSP00000265713:N1822D;ENSP00000385888:N1822D;ENSP00000380136:N1822D ENSP00000265713:N1822D N - 1 0 KAT6A 41909431 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 7.542000 0.82095 2.148000 0.66965 0.533000 0.62120 AAC KAT6A-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318163.1 93.568160 0 -13 70 0 0 1 0 NM_006766 29 93.732144 36 0.446154 SLC19A1 6573 broad.mit.edu hg19 21 46950865 46950865 + Missense_Mutation SNP C C T rs56138890 TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr21:46950865C>T ENST00000311124.4 - 4 1122 c.970G>A c.(970-972)Gcg>Acg p.A324T SLC19A1_ENST00000380010.4_Missense_Mutation_p.A324T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A324T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A284T NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 324 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) ACGAAGCCCGCGGCGAAGGAC 0.711 0 14.0 14.0 14.0 21 46950865 2191 4272 6463 SO:0001583 missense U15939 CCDS13725.1, CCDS56217.1, CCDS56218.1 21q22.3 2013-05-22 ENSG00000173638 ENSG00000173638 """Solute carriers""" 10937 protein-coding gene gene with protein product 600424 9570943 Standard NM_194255 Approved FOLT uc002zhl.2 P41440 OTTHUMG00000090397 ENST00000380010.4:c.970G>A 21.37:g.46950865C>T ENSP00000369347:p.Ala324Thr B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8 ENST00000380010.4 37 CCDS56218.1 . . . . . . . . . . c 19.41 3.823174 0.71143 . . ENSG00000173638 ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649 D;D;D 0.81908 -1.55;-1.55;-1.55 4.16 4.16 0.48862 Major facilitator superfamily domain, general substrate transporter (1); 0.056197 0.64402 N 0.000001 D 0.90532 0.7033 M 0.76938 2.355 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.997;0.997;1.0;0.997 D 0.91568 0.5269 10 0.56958 D 0.05 -35.1012 15.397 0.74805 0.0:1.0:0.0:0.0 . 284;346;324;324 B7Z8C3;D3DSM6;E9PFY4;P41440 .;.;.;S19A1_HUMAN T 71;324;324;284 ENSP00000308895:A324T;ENSP00000369347:A324T;ENSP00000441772:A284T ENSP00000308895:A324T A - 1 0 SLC19A1 45775293 1.000000 0.71417 0.295000 0.24960 0.199000 0.23934 6.964000 0.76061 2.034000 0.60081 0.289000 0.19496 GCG SLC19A1-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000206797.1 2.703999 0 -1 32 0 0 1 0 3 7.244018 26 0.103448 LRRC16A 55604 broad.mit.edu hg19 6 25500413 25500413 + Missense_Mutation SNP G G C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr6:25500413G>C ENST00000329474.6 + 17 1713 c.1345G>C c.(1345-1347)Gct>Cct p.A449P NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 449 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ATTGGGCCTGGCTTGTAATCA 0.428 0 157.0 144.0 148.0 6 25500413 1893 4121 6014 SO:0001583 missense AK000055 CCDS54973.1 6p22.1 2010-09-10 2008-02-12 2008-02-12 ENSG00000079691 ENSG00000079691 21581 protein-coding gene gene with protein product """capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)""" 609593 """leucine rich repeat containing 16""" LRRC16 19846667 Standard NM_017640 Approved dJ501N12.1, FLJ20048, CARMIL, CARMIL1 uc011djw.2 Q5VZK9 OTTHUMG00000014393 ENST00000329474.6:c.1345G>C 6.37:g.25500413G>C ENSP00000331983:p.Ala449Pro B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7 ENST00000329474.6 37 CCDS54973.1 . . . . . . . . . . G 22.5 4.291781 0.80914 . . ENSG00000079691 ENST00000329474;ENST00000399313 T 0.54866 0.55 5.37 3.55 0.40652 . 0.049679 0.85682 D 0.000000 T 0.57710 0.2072 M 0.83483 2.645 0.80722 D 1 D;D;D 0.63880 0.977;0.993;0.987 P;P;P 0.57960 0.83;0.83;0.799 T 0.63120 -0.6708 10 0.54805 T 0.06 . 10.4624 0.44587 0.0699:0.0:0.7959:0.1342 . 449;449;449 Q5VZK9;B2RTQ5;Q5VZK9-2 LR16A_HUMAN;.;. P 449 ENSP00000331983:A449P ENSP00000331983:A449P A + 1 0 LRRC16A 25608392 1.000000 0.71417 1.000000 0.80357 0.966000 0.64601 5.410000 0.66381 0.716000 0.32124 0.563000 0.77884 GCT LRRC16A-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000040045.2 43.375143 0 9 39 0 0 1 0 NM_017640 13 43.383791 12 0.520000 ZNF680 340252 broad.mit.edu hg19 7 64004737 64004737 + Missense_Mutation SNP C C T TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr7:64004737C>T ENST00000309683.6 - 2 255 c.104G>A c.(103-105)cGg>cAg p.R35Q ZNF680_ENST00000447137.2_Missense_Mutation_p.R35Q|ZNF680_ENST00000476563.1_Intron NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) ATATAAATTCCGTTGTGCAGT 0.438 0 155.0 159.0 158.0 7 64004737 2203 4300 6503 SO:0001583 missense AK074911 CCDS34644.1, CCDS47594.1 7q11.21 2013-01-08 ENSG00000173041 ENSG00000173041 """Zinc fingers, C2H2-type"", ""-""" 26897 protein-coding gene gene with protein product """hypothetical protein FLJ90430""" 12477932 Standard NM_178558 Approved FLJ90430 uc003tta.2 Q8NEM1 OTTHUMG00000156542 ENST00000447137.2:c.104G>A 7.37:g.64004737C>T ENSP00000393506:p.Arg35Gln B3KVJ4|Q6ZNF3|Q8NC79 ENST00000447137.2 37 CCDS47594.1 . . . . . . . . . . N 0.016 -1.527136 0.00959 . . ENSG00000173041 ENST00000309683;ENST00000447137 T;T 0.02763 4.17;4.17 0.665 -0.96 0.10340 Krueppel-associated box (4); . . . . T 0.01489 0.0048 N 0.21142 0.635 0.09310 N 1 B;B 0.29646 0.081;0.253 B;B 0.22880 0.024;0.042 T 0.45629 -0.9248 8 0.05436 T 0.98 . . . . . 35;35 Q6ZNF3;Q8NEM1 .;ZN680_HUMAN Q 35 ENSP00000309330:R35Q;ENSP00000393506:R35Q ENSP00000309330:R35Q R - 2 0 ZNF680 63642172 0.001000 0.12720 0.014000 0.15608 0.011000 0.07611 -0.180000 0.09754 -0.429000 0.07329 -0.350000 0.07774 CGG ZNF680-004 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000344571.2 -13.820319 0 -71 215 0 0 1 0 NM_178558 5 11.016772 107 0.044643 PDIA5 10954 broad.mit.edu hg19 3 122821618 122821618 + Missense_Mutation SNP A A G TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr3:122821618A>G ENST00000316218.7 + 5 457 c.362A>G c.(361-363)gAa>gGa p.E121G NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 121 cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) TTTCATACTGAATATAACCGA 0.403 0 142.0 124.0 130.0 3 122821618 2203 4300 6503 SO:0001583 missense AK054963 CCDS3020.1 3q21.1 2009-11-20 2005-06-29 ENSG00000065485 ENSG00000065485 """Protein disulfide isomerases""" 24811 protein-coding gene gene with protein product """protein disulfide isomerase-associated 5""" 7556671 Standard NM_006810 Approved PDIR, FLJ30401 uc003egc.2 Q14554 OTTHUMG00000159558 ENST00000316218.7:c.362A>G 3.37:g.122821618A>G ENSP00000323313:p.Glu121Gly D3DN95|Q9BV43 ENST00000316218.7 37 CCDS3020.1 . . . . . . . . . . A 16.84 3.233782 0.58886 . . ENSG00000065485 ENST00000316218;ENST00000484644 T 0.25085 1.82 4.97 4.97 0.65823 Thioredoxin-like fold (1); 0.109692 0.64402 D 0.000009 T 0.26919 0.0659 L 0.48362 1.52 0.44908 D 0.99792 P 0.36162 0.54 B 0.39771 0.309 T 0.04115 -1.0976 10 0.46703 T 0.11 . 12.261 0.54651 1.0:0.0:0.0:0.0 . 121 Q14554 PDIA5_HUMAN G 121;25 ENSP00000323313:E121G ENSP00000323313:E121G E + 2 0 PDIA5 124304308 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.695000 0.61767 2.080000 0.62538 0.460000 0.39030 GAA PDIA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356192.1 53.368952 0 14 68 0 0 1 0 NM_006810 17 53.508705 22 0.435897 MAP3K12 7786 broad.mit.edu hg19 12 53880791 53880791 + Missense_Mutation SNP G G A TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr12:53880791G>A ENST00000267079.2 - 3 511 c.286C>T c.(286-288)Cgc>Tgc p.R96C MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 96 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CAGACAGGGCGCAGGCAGCCA 0.602 0 82.0 67.0 72.0 12 53880791 2203 4300 6503 SO:0001583 missense U07358 CCDS8860.1, CCDS55831.1 12q13.13 2013-10-30 ENSG00000139625 ENSG00000139625 """Mitogen-activated protein kinase cascade / Kinase kinase kinases""" 6851 protein-coding gene gene with protein product """dual leucine zipper kinase DLK""" 600447 ZPK 8037767 Standard NM_006301 Approved MUK, DLK, ZPKP1, MEKK12 uc001sdn.2 Q12852 OTTHUMG00000169854 ENST00000547035.1:c.385C>T 12.37:g.53880791G>A ENSP00000448689:p.Arg129Cys B3KSS9|G3V1Y2|Q86VQ5|Q8WY25 ENST00000547035.1 37 CCDS55831.1 . . . . . . . . . . G 17.15 3.316940 0.60524 . . ENSG00000139625 ENST00000267079;ENST00000547488;ENST00000547035 T;T;T 0.77489 -1.09;-1.1;-1.1 4.73 4.73 0.59995 . 0.000000 0.42821 D 0.000645 T 0.78848 0.4348 L 0.27053 0.805 0.58432 D 0.999995 D;D 0.89917 1.0;1.0 D;P 0.67900 0.954;0.899 T 0.80710 -0.1261 10 0.87932 D 0 . 10.797 0.46466 0.0:0.0:0.6951:0.3049 . 129;96 G3V1Y2;Q12852 .;M3K12_HUMAN C 96;129;129 ENSP00000267079:R96C;ENSP00000449038:R129C;ENSP00000448689:R129C ENSP00000267079:R96C R - 1 0 MAP3K12 52167058 0.958000 0.32768 1.000000 0.80357 0.994000 0.84299 1.747000 0.38298 2.353000 0.79882 0.462000 0.41574 CGC MAP3K12-005 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000406270.1 -4.616330 0 10 60 0 0 1 0 NM_006301 3 6.877454 52 0.054545 HMGXB4 10042 broad.mit.edu hg19 22 35661472 35661472 + Missense_Mutation SNP C C A TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr22:35661472C>A ENST00000216106.5 + 5 1219 c.1091C>A c.(1090-1092)cCc>cAc p.P364H HMGXB4_ENST00000444518.2_Missense_Mutation_p.P255H NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 364 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGCCCTCCTCCCAGCATCCCA 0.517 0 74.0 77.0 76.0 22 35661472 2203 4300 6503 SO:0001583 missense AJ010069 CCDS33641.1 22q13 2011-07-01 2009-01-05 2009-01-05 ENSG00000100281 ENSG00000100281 """High mobility group / Non-canonical""" 5003 protein-coding gene gene with protein product 604702 """high-mobility group protein 2-like 1""" HMG2L1 10329004, 10591208, 20511232 Standard NM_001003681 Approved THC211630 uc003anl.3 Q9UGU5 OTTHUMG00000150439 ENST00000216106.5:c.1091C>A 22.37:g.35661472C>A ENSP00000216106:p.Pro364His O75672|O75673|Q9UMT5 ENST00000216106.5 37 CCDS33641.1 . . . . . . . . . . C 11.06 1.529083 0.27387 . . ENSG00000100281 ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106 T;T;T;T 0.52057 0.68;2.19;0.69;2.19 5.74 4.73 0.59995 . 0.509257 0.24054 N 0.041970 T 0.28167 0.0695 N 0.14661 0.345 0.33438 D 0.582035 P 0.45283 0.855 B 0.37091 0.241 T 0.47611 -0.9104 10 0.87932 D 0 -11.8579 10.4023 0.44237 0.0:0.8555:0.0:0.1445 . 364 Q9UGU5 HMGX4_HUMAN H 255;255;255;364 ENSP00000401658:P255H;ENSP00000398302:P255H;ENSP00000415500:P255H;ENSP00000216106:P364H ENSP00000216106:P364H P + 2 0 HMGXB4 33991472 0.998000 0.40836 0.989000 0.46669 0.462000 0.32619 3.083000 0.50136 2.712000 0.92718 0.650000 0.86243 CCC HMGXB4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000318104.2 86.831972 1 -11 57 0 1.2476e-16 1 1.28225e-16 NM_005487 27 87.586145 15 0.642857 UBR4 23352 broad.mit.edu hg19 1 19473374 19473374 + Missense_Mutation SNP G G A TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr1:19473374G>A ENST00000375267.2 - 52 7753 c.7750C>T c.(7750-7752)Cgc>Tgc p.R2584C UBR4_ENST00000375217.2_Missense_Mutation_p.R2584C|UBR4_ENST00000375254.3_Missense_Mutation_p.R2584C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2595C Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2584 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGTTGGGGCGCATGATGGCA 0.532 0 230.0 214.0 220.0 1 19473374 2203 4300 6503 SO:0001583 missense AF348492 CCDS189.1 1p36.13 2008-06-23 2007-06-19 2007-06-19 ENSG00000127481 ENSG00000127481 """Ubiquitin protein ligase E3 component n-recognins""" 30313 protein-coding gene gene with protein product 609890 """zinc finger, UBR1 type 1""" ZUBR1 14702039, 10718198, 16055722 Standard XM_005245802 Approved KIAA1307, KIAA0462, RBAF600 uc001bbi.3 Q5T4S7 OTTHUMG00000002498 ENST00000375254.3:c.7750C>T 1.37:g.19473374G>A ENSP00000364403:p.Arg2584Cys A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82 ENST00000375254.3 37 CCDS189.1 . . . . . . . . . . G 20.2 3.942569 0.73672 . . ENSG00000127481 ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040 T;T;T;T 0.39787 1.26;1.25;1.39;1.06 5.95 5.95 0.96441 . 0.000000 0.85682 D 0.000000 T 0.61451 0.2348 L 0.58810 1.83 0.80722 D 1 D 0.89917 1.0 D 0.74023 0.982 T 0.61783 -0.6992 10 0.87932 D 0 . 16.0062 0.80363 0.0:0.0:0.8575:0.1425 . 2584 Q5T4S7 UBR4_HUMAN C 2584;2584;2584;2595;199;1305 ENSP00000364403:R2584C;ENSP00000364416:R2584C;ENSP00000364365:R2584C;ENSP00000364374:R2595C ENSP00000364365:R2584C R - 1 0 UBR4 19345961 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.891000 0.63185 2.817000 0.96982 0.563000 0.77884 CGC UBR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007085.1 -34.145054 0 -7 208 0 0 1 0 NM_020765 4 7.628042 162 0.024096 OGN 4969 broad.mit.edu hg19 9 95147973 95147973 + Missense_Mutation SNP G G T TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr9:95147973G>T ENST00000262551.4 - 7 1246 c.826C>A c.(826-828)Cca>Aca p.P276T CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.P276T NM_033014.2 NP_148935.1 P20774 MIME_HUMAN osteoglycin 276 extracellular space|proteinaceous extracellular matrix growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 13 AGGACGATTGGATTGCCCTCC 0.403 0 147.0 139.0 142.0 9 95147973 2203 4300 6503 SO:0001583 missense AI424992 CCDS6695.1 9q22 2008-02-05 2007-02-16 ENSG00000106809 ENSG00000106809 """Proteoglycans / Extracellular Matrix : Small leucine-rich repeats""" 8126 protein-coding gene gene with protein product """mimecan proteoglycan""" 602383 """osteoglycin (osteoinductive factor)""" 2372374 Standard NM_033014 Approved mimecan, OIF, SLRR3A uc004asa.3 P20774 OTTHUMG00000020224 ENST00000262551.4:c.826C>A 9.37:g.95147973G>T ENSP00000262551:p.Pro276Thr Q6FIB0|Q9UF90|Q9UNK5 ENST00000262551.4 37 CCDS6695.1 . . . . . . . . . . G 22.4 4.283429 0.80803 . . ENSG00000106809 ENST00000262551;ENST00000375561 D;D 0.83673 -1.75;-1.75 5.42 5.42 0.78866 . 0.000000 0.85682 D 0.000000 D 0.91277 0.7250 M 0.75085 2.285 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.996;0.998 D 0.91505 0.5222 10 0.66056 D 0.02 . 19.6241 0.95671 0.0:0.0:1.0:0.0 . 334;276 B4DI63;P20774 .;MIME_HUMAN T 276 ENSP00000262551:P276T;ENSP00000364711:P276T ENSP00000262551:P276T P - 1 0 OGN 94187794 1.000000 0.71417 0.947000 0.38551 0.617000 0.37484 9.835000 0.99442 2.708000 0.92522 0.650000 0.86243 CCA OGN-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053087.1 -4.183354 1 -24 84 0 0.000602214 1 0.000602214 NM_024416 5 9.876158 68 0.068493 PPP1R12C 54776 broad.mit.edu hg19 19 55602889 55602889 + Missense_Mutation SNP T T C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr19:55602889T>C ENST00000263433.3 - 22 2315 c.2300A>G c.(2299-2301)aAg>aGg p.K767R PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K692R|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K704R NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 767 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) ATTCTCATCCTTGAGGCGCTG 0.637 0 60.0 55.0 57.0 19 55602889 2203 4300 6503 SO:0001583 missense AF312028 CCDS12916.1 19q13.42 2013-01-10 2011-10-04 ENSG00000125503 ENSG00000125503 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing""" 14947 protein-coding gene gene with protein product """myosin-binding subunit 85""" 613245 """leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C""" LENG3 11399775 Standard NM_017607 Approved DKFZP434D0412, p84, MBS85, p85 uc002qix.4 Q9BZL4 ENST00000263433.3:c.2300A>G 19.37:g.55602889T>C ENSP00000263433:p.Lys767Arg ENST00000263433.3 37 CCDS12916.1 . . . . . . . . . . T 15.67 2.902556 0.52227 . . ENSG00000125503 ENST00000263433;ENST00000376393;ENST00000435544 T;T;T 0.15718 2.4;2.4;2.4 4.2 3.17 0.36434 . 0.145923 0.42821 D 0.000646 T 0.31009 0.0783 L 0.58810 1.83 0.30710 N 0.749401 D;P;D 0.69078 0.997;0.873;0.997 D;B;D 0.73380 0.98;0.411;0.98 T 0.13818 -1.0495 10 0.87932 D 0 . 5.7809 0.18306 0.0:0.1213:0.0:0.8787 . 692;765;767 B4DME2;Q9BZL4-3;Q9BZL4 .;.;PP12C_HUMAN R 767;704;692 ENSP00000263433:K767R;ENSP00000365573:K704R;ENSP00000387833:K692R ENSP00000263433:K767R K - 2 0 PPP1R12C 60294701 1.000000 0.71417 1.000000 0.80357 0.581000 0.36288 3.603000 0.54074 1.683000 0.51011 0.459000 0.35465 AAG PPP1R12C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451814.2 51.300471 0 -2 45 0 0 1 0 NM_017607 16 51.307465 15 0.516129 SLC40A1 30061 broad.mit.edu hg19 2 190428516 190428516 + Missense_Mutation SNP T T C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr2:190428516T>C ENST00000261024.2 - 7 1622 c.1196A>G c.(1195-1197)gAc>gGc p.D399G NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 399 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) AACGGACAAGTCCAGGGGGCT 0.428 0 78.0 77.0 77.0 2 190428516 2203 4300 6503 SO:0001583 missense AF215636 CCDS2299.1 2q32 2014-09-17 2003-06-04 2003-06-05 ENSG00000138449 ENSG00000138449 """Solute carriers""" 10909 protein-coding gene gene with protein product """ferroportin 1""" 604653 """solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3""" SLC11A3 10828623 Standard NM_014585 Approved MTP1, IREG1, FPN1, HFE4 uc002uqp.4 Q9NP59 OTTHUMG00000132662 ENST00000261024.2:c.1196A>G 2.37:g.190428516T>C ENSP00000261024:p.Asp399Gly Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0 ENST00000261024.2 37 CCDS2299.1 . . . . . . . . . . T 28.6 4.931013 0.92389 . . ENSG00000138449 ENST00000261024;ENST00000544056 D 0.93906 -3.31 6.02 6.02 0.97574 Major facilitator superfamily domain, general substrate transporter (1); 0.000000 0.85682 D 0.000000 D 0.96318 0.8799 M 0.78049 2.395 0.80722 D 1 D 0.67145 0.996 D 0.66196 0.942 D 0.96125 0.9088 10 0.49607 T 0.09 -33.6668 16.542 0.84395 0.0:0.0:0.0:1.0 . 399 Q9NP59 S40A1_HUMAN G 399;134 ENSP00000261024:D399G ENSP00000261024:D399G D - 2 0 SLC40A1 190136761 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.025000 0.88777 2.304000 0.77564 0.528000 0.53228 GAC SLC40A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255916.2 73.833352 0 -11 50 0 0 1 0 23 73.837571 24 0.489362 KRT83 3889 broad.mit.edu hg19 12 52710711 52710711 + Missense_Mutation SNP T T C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr12:52710711T>C ENST00000293670.3 - 5 909 c.847A>G c.(847-849)Atc>Gtc p.I283V NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 283 Coil 2.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGTGCCTTGATCTCGGCAACG 0.582 0 175.0 145.0 155.0 12 52710711 2203 4300 6503 SO:0001583 missense X99141 CCDS8823.1 12q13.13 2013-06-20 2006-07-17 2006-07-17 ENSG00000170523 ENSG00000170523 """-"", ""Intermediate filaments type II, keratins (basic)""" 6460 protein-coding gene gene with protein product """hard keratin type II""" 602765 """keratin, hair, basic, 3""" KRTHB3 9084137, 16831889 Standard NM_002282 Approved Hb-3 uc001saf.2 P78385 OTTHUMG00000169632 ENST00000293670.3:c.847A>G 12.37:g.52710711T>C ENSP00000293670:p.Ile283Val A1A4S9|B2RC21|Q6NT21|Q9NSB3 ENST00000293670.3 37 CCDS8823.1 . . . . . . . . . . T 4.896 0.166519 0.09339 . . ENSG00000170523 ENST00000293670 D 0.89270 -2.49 3.9 3.9 0.45041 Filament (1); 0.000000 0.42053 U 0.000761 T 0.80914 0.4715 L 0.37800 1.135 0.36185 D 0.849683 B 0.28233 0.204 B 0.37692 0.256 T 0.72090 -0.4395 10 0.02654 T 1 . 4.7787 0.13192 0.0:0.2834:0.0:0.7166 . 283 P78385 KRT83_HUMAN V 283 ENSP00000293670:I283V ENSP00000293670:I283V I - 1 0 KRT83 50996978 1.000000 0.71417 1.000000 0.80357 0.432000 0.31715 5.993000 0.70616 1.544000 0.49359 0.459000 0.35465 ATC KRT83-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405182.1 7.955240 0 -29 108 0 0 1 0 NM_002282 8 16.268038 53 0.131148 WDR41 55255 broad.mit.edu hg19 5 76788029 76788029 + Missense_Mutation SNP A A C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr5:76788029A>C ENST00000296679.4 - 1 392 c.17T>G c.(16-18)aTc>aGc p.I6S WDR41_ENST00000507029.1_Missense_Mutation_p.I6S NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 6 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) GCCTCCCCCGATCAGCCATCG 0.706 0 42.0 45.0 44.0 5 76788029 2203 4300 6503 SO:0001583 missense AF115511 CCDS4038.1 5q14 2013-01-09 ENSG00000164253 ENSG00000164253 """WD repeat domain containing""" 25601 protein-coding gene gene with protein product 12477932 Standard NM_018268 Approved FLJ10904 uc003kff.1 Q9HAD4 OTTHUMG00000102169 ENST00000296679.4:c.17T>G 5.37:g.76788029A>C ENSP00000296679:p.Ile6Ser B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62 ENST00000296679.4 37 CCDS4038.1 . . . . . . . . . . A 19.95 3.920822 0.73213 . . ENSG00000164253 ENST00000296679;ENST00000507029;ENST00000511791;ENST00000514559;ENST00000511036 T;T;T;T;T 0.59224 0.39;0.92;1.15;0.35;0.28 4.02 4.02 0.46733 . 0.418213 0.25981 N 0.027077 T 0.38188 0.1031 N 0.14661 0.345 0.80722 D 1 P;B 0.45348 0.856;0.181 B;B 0.38156 0.266;0.134 T 0.46693 -0.9173 10 0.87932 D 0 -3.0539 11.6016 0.51006 1.0:0.0:0.0:0.0 . 6;6 B4DT55;Q9HAD4 .;WDR41_HUMAN S 6 ENSP00000296679:I6S;ENSP00000424287:I6S;ENSP00000423540:I6S;ENSP00000426937:I6S;ENSP00000422510:I6S ENSP00000296679:I6S I - 2 0 WDR41 76823785 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 4.877000 0.63086 1.805000 0.52779 0.374000 0.22700 ATC WDR41-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000220014.2 46.248309 0 -12 42 0 0 1 0 NM_018268 14 46.277244 16 0.466667 GNAQ 2776 broad.mit.edu hg19 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 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 OTTHUMT00000052761.1 127.249806 0 -21 91 0 0 1 0 NM_002072 38 127.274374 41 0.481013 SNHG14 0 broad.mit.edu hg19 15 25321125 25321125 + RNA SNP T T G TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr15:25321125T>G ENST00000549804.2 + 0 1109 SNORD116-11_ENST00000383882.1_RNA TTGAACAAAATGAGTGAAAAC 0.443 0 111.0 100.0 104.0 15 25321125 876 1991 2867 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 """Long non-coding RNAs""" 37462 non-coding RNA RNA, long non-coding """non-protein coding RNA 214""" """UBE3A antisense RNA 1 (non-protein coding)""" UBE3A-AS1 23771028 Standard Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 15.37:g.25321125T>G ENST00000549804.2 37 SNHG14-012 KNOWN non_canonical_other|basic antisense processed_transcript OTTHUMT00000408278.2 62.223338 0 -56 149 0 0 1 0 19 62.245036 21 0.475000 ZBTB8A 653121 broad.mit.edu hg19 1 33058775 33058775 + Missense_Mutation SNP C C G TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr1:33058775C>G ENST00000373510.4 + 3 472 c.243C>G c.(241-243)gaC>gaG p.D81E RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.D81E NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 81 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TTATCTTGGACTTCGTATATT 0.413 0 113.0 108.0 110.0 1 33058775 2203 4300 6503 SO:0001583 missense AF548353 CCDS30664.1 1p34.3 2013-01-08 2009-03-25 2009-03-25 ENSG00000160062 ENSG00000160062 """-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing""" 24172 protein-coding gene gene with protein product """zinc finger and BTB domain containing 8""" ZBTB8 12477932 Standard NM_001040441 Approved BOZF1, FLJ90065, ZNF916A uc001bvn.3 Q96BR9 OTTHUMG00000007855 ENST00000373510.4:c.243C>G 1.37:g.33058775C>G ENSP00000362609:p.Asp81Glu Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0 ENST00000373510.4 37 CCDS30664.1 . . . . . . . . . . C 18.52 3.640850 0.67244 . . ENSG00000160062 ENST00000373510;ENST00000316459 T;T 0.70045 -0.45;-0.45 5.32 4.39 0.52855 BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2); 0.000000 0.85682 U 0.000000 T 0.69940 0.3167 L 0.37630 1.12 0.43953 D 0.996624 D;D 0.89917 1.0;0.988 D;D 0.97110 1.0;0.968 T 0.64803 -0.6321 10 0.27785 T 0.31 -16.0751 9.3611 0.38197 0.0:0.8499:0.0:0.1501 . 81;81 Q96BR9;D3DPQ1 ZBT8A_HUMAN;. E 81 ENSP00000362609:D81E;ENSP00000317561:D81E ENSP00000317561:D81E D + 3 2 ZBTB8A 32831362 0.999000 0.42202 1.000000 0.80357 0.983000 0.72400 0.687000 0.25407 2.651000 0.90000 0.585000 0.79938 GAC ZBTB8A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000021665.2 0.381265 0 -1 134 0 0 1 0 NM_144621 9 21.028093 105 0.078947 MUC16 94025 broad.mit.edu hg19 19 8999436 8999436 + Missense_Mutation SNP T T C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr19:8999436T>C ENST00000397910.4 - 56 40942 c.40739A>G c.(40738-40740)gAg>gGg p.E13580G MUC16_ENST00000380951.5_Missense_Mutation_p.E221G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13582 SEA 10. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGGCCCAGCTCAGTGATGCT 0.572 0 235.0 197.0 210.0 19 8999436 2063 4208 6271 SO:0001583 missense AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 """Mucins""" 15582 protein-coding gene gene with protein product 606154 11369781 Standard XM_006722941 Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.40739A>G 19.37:g.8999436T>C ENSP00000381008:p.Glu13580Gly Q6ZQW5|Q96RK2 ENST00000397910.4 37 CCDS54212.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 8.899|8.899 0.955939|0.955939 0.18507|0.18507 .|. .|. ENSG00000181143|ENSG00000181143 ENST00000397910;ENST00000380951|ENST00000542240 T;T|. 0.29655|. 1.56;1.56|. 3.48|3.48 -1.19|-1.19 0.09585|0.09585 SEA (2);|. .|. .|. .|. .|. T|T 0.53254|0.53254 0.1785|0.1785 M|M 0.65975|0.65975 2.015|2.015 .|. .|. .|. B;D|. 0.53745|. 0.134;0.962|. B;D|. 0.66716|. 0.063;0.946|. T|T 0.58086|0.58086 -0.7698|-0.7698 7|4 .|. .|. .|. .|. 7.319|7.319 0.26517|0.26517 0.0:0.4982:0.0:0.5018|0.0:0.4982:0.0:0.5018 .|. 21225;13580|. Q8WXI7;B5ME49|. MUC16_HUMAN;.|. G|G 13580;221|420 ENSP00000381008:E13580G;ENSP00000370338:E221G|. .|. E|S -|- 2|1 0|0 MUC16|MUC16 8860436|8860436 0.000000|0.000000 0.05858|0.05858 0.003000|0.003000 0.11579|0.11579 0.020000|0.020000 0.10135|0.10135 -0.642000|-0.642000 0.05427|0.05427 -0.468000|-0.468000 0.06922|0.06922 0.454000|0.454000 0.30748|0.30748 GAG|AGC MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 143.329073 0 -48 333 0 0 1 0 NM_024690 56 157.634179 177 0.240343 NREP 9315 broad.mit.edu hg19 5 111066659 111066659 + Missense_Mutation SNP C C T TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr5:111066659C>T ENST00000379671.3 - 5 430 c.166G>A c.(166-168)Gaa>Aaa p.E56K NREP_ENST00000455559.2_Missense_Mutation_p.E56K|NREP_ENST00000446294.2_Missense_Mutation_p.E56K|NREP_ENST00000450761.2_Missense_Mutation_p.E56K|NREP_ENST00000509427.1_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000447165.2_Missense_Mutation_p.E56K|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000395634.3_Missense_Mutation_p.E100K|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000508870.1_Missense_Mutation_p.E56K|NREP_ENST00000509025.1_Intron|NREP_ENST00000419114.2_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000257435.7_Missense_Mutation_p.E56K|NREP_ENST00000453526.2_Missense_Mutation_p.E56K NM_001142478.1 NP_001135950.1 Q16612 NP311_HUMAN neuronal regeneration related protein 56 cytoplasm GAGCGGAGTTCACTGCTGCCC 0.478 0 168.0 147.0 154.0 5 111066659 2202 4300 6502 SO:0001583 missense AF119859 CCDS4105.1, CCDS47255.1 5q22.1 2012-12-07 2012-12-07 2012-01-23 ENSG00000134986 ENSG00000134986 16834 protein-coding gene gene with protein product """neuronal protein 3.1""" 607332 """chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)""" C5orf13 8261136, 10981724, 15485502 Standard NM_004772 Approved P311, D4S114, PRO1873, PTZ17, SEZ17 uc011cvr.2 Q16612 OTTHUMG00000128795 ENST00000379671.3:c.166G>A 5.37:g.111066659C>T ENSP00000368993:p.Glu56Lys B2RDN8|B7Z5D2|D3DSZ8 ENST00000379671.3 37 CCDS4105.1 . . . . . . . . . . C 11.43 1.635706 0.29068 . . ENSG00000134986 ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100 T;T;T;T;T;T;T;T;T;T;T;T 0.53640 0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61 5.38 5.38 0.77491 . 0.455843 0.20888 N 0.083874 T 0.55226 0.1907 . . . 0.19300 N 0.999973 P;P;B 0.42078 0.77;0.77;0.322 P;P;B 0.48598 0.505;0.583;0.142 T 0.50268 -0.8848 9 0.38643 T 0.18 -0.6437 19.1289 0.93397 0.0:1.0:0.0:0.0 . 56;100;56 D6RIC9;B7Z5D2;Q16612 .;.;NP311_HUMAN K 56;56;56;56;100;56;56;56;56;56;56;56 ENSP00000368993:E56K;ENSP00000257435:E56K;ENSP00000408839:E56K;ENSP00000402965:E56K;ENSP00000378996:E100K;ENSP00000416617:E56K;ENSP00000399766:E56K;ENSP00000422630:E56K;ENSP00000403383:E56K;ENSP00000392559:E56K;ENSP00000427149:E56K;ENSP00000427476:E56K ENSP00000257435:E56K E - 1 0 C5orf13 111094558 0.349000 0.24870 0.020000 0.16555 0.948000 0.59901 3.573000 0.53856 2.523000 0.85059 0.655000 0.94253 GAA NREP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250722.1 101.174741 0 -12 65 0 0 1 0 NM_004772 33 101.205669 30 0.523810 NPR1 4881 broad.mit.edu hg19 1 153658320 153658320 + Silent SNP C C T TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr1:153658320C>T ENST00000368680.3 + 9 2116 c.1644C>T c.(1642-1644)ggC>ggT p.G548G NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 548 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCACAGAGGGCCAGTTCCAAG 0.562 0 67.0 59.0 62.0 1 153658320 2203 4300 6503 SO:0001819 synonymous_variant BC063304 CCDS1051.1 1q21-q22 2014-03-03 2014-03-03 ENSG00000169418 ENSG00000169418 7943 protein-coding gene gene with protein product """guanylate cyclase A""" 108960 """atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A""" ANPRA, NPRA 1979052 Standard NM_000906 Approved GUCY2A, ANPa uc001fcs.4 P16066 OTTHUMG00000037085 ENST00000368680.3:c.1644C>T 1.37:g.153658320C>T B0ZBF0|Q5SR08|Q6P4Q3 ENST00000368680.3 37 CCDS1051.1 NPR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090034.1 76.001443 0 -12 82 0 0 1 0 NM_000906 27 76.717383 42 0.391304 IFT140 9742 broad.mit.edu hg19 16 1574691 1574691 + Silent SNP C C T rs151293332 TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr16:1574691C>T ENST00000426508.2 - 24 3366 c.3003G>A c.(3001-3003)gcG>gcA p.A1001A IFT140_ENST00000361339.5_Silent_p.A195A NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1001 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TGGCTATTTGCGCAGCCTAGA 0.632 0 57.0 60.0 59.0 16 1574691 2199 4300 6499 SO:0001819 synonymous_variant AB011162 CCDS10439.1 16p13.3 2014-07-03 2014-07-03 2005-11-02 ENSG00000187535 ENSG00000187535 """Intraflagellar transport homologs"", ""WD repeat domain containing""" 29077 protein-coding gene gene with protein product 614620 """WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)""" WDTC2 9628581 Standard NM_014714 Approved gs114, KIAA0590 uc002cmb.3 Q96RY7 OTTHUMG00000128585 ENST00000361339.5:c.585G>A 16.37:g.1574691C>T A2A2A8|D3DU75|O60332|Q9UG52 ENST00000361339.5 37 IFT140-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000432772.1 -1.905916 0 -9 53 0 0 1 0 NM_014714 3 6.577931 41 0.068182 TGM4 7047 broad.mit.edu hg19 3 44952846 44952846 + Missense_Mutation SNP A A C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr3:44952846A>C ENST00000296125.4 + 13 1929 c.1861A>C c.(1861-1863)Aag>Cag p.K621Q NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 621 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) GACTGACGTCAAGTTCTCTTT 0.478 0 152.0 142.0 145.0 3 44952846 2203 4300 6503 SO:0001583 missense BC007003 CCDS2723.1 3p22-p21.33 2013-05-02 2013-05-02 ENSG00000163810 ENSG00000163810 """Transglutaminases""" 11780 protein-coding gene gene with protein product 600585 """transglutaminase 4 (prostate)""" 7665178, 7916568 Standard NM_003241 Approved TGP uc003coc.4 P49221 OTTHUMG00000133096 ENST00000296125.4:c.1861A>C 3.37:g.44952846A>C ENSP00000296125:p.Lys621Gln Q16707|Q96QN4 ENST00000296125.4 37 CCDS2723.1 . . . . . . . . . . A 9.577 1.122484 0.20877 . . ENSG00000163810 ENST00000296125 T 0.68025 -0.3 2.72 1.33 0.21861 Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1); 0.141093 0.30126 U 0.010344 T 0.47581 0.1453 L 0.33485 1.01 0.22066 N 0.999383 B 0.30973 0.302 B 0.29663 0.105 T 0.25293 -1.0136 10 0.16420 T 0.52 . 8.4649 0.32949 0.6368:0.3632:0.0:0.0 . 621 P49221 TGM4_HUMAN Q 621 ENSP00000296125:K621Q ENSP00000296125:K621Q K + 1 0 TGM4 44927850 0.783000 0.28701 0.226000 0.23910 0.097000 0.18754 1.203000 0.32284 0.991000 0.38814 0.460000 0.39030 AAG TGM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256755.2 135.162893 0 -28 100 0 0 1 0 NM_003241 41 135.607544 55 0.427083 SLIT2 9353 broad.mit.edu hg19 4 20543158 20543158 + Missense_Mutation SNP G G A TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr4:20543158G>A ENST00000504154.1 + 20 2311 c.2059G>A c.(2059-2061)Gga>Aga p.G687R SLIT2_ENST00000503837.1_Missense_Mutation_p.G683R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G679R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G691R NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 687 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AATTGTCACGGGAAATCCTAG 0.438 0 114.0 103.0 107.0 4 20543158 2203 4300 6503 SO:0001583 missense AF055585 CCDS3426.1, CCDS75110.1, CCDS75111.1 4p15.2 2008-08-01 2001-11-28 ENSG00000145147 ENSG00000145147 11086 protein-coding gene gene with protein product 603746 """slit (Drosophila) homolog 2""" SLIL3 9813312, 18269211 Standard XM_005248211 Approved Slit-2 uc003gpr.1 O94813 OTTHUMG00000128551 ENST00000504154.1:c.2059G>A 4.37:g.20543158G>A ENSP00000422591:p.Gly687Arg B7ZLR5|O95710|Q17RU3|Q9Y5Q7 ENST00000504154.1 37 CCDS3426.1 . . . . . . . . . . G 26.2 4.717663 0.89205 . . ENSG00000145147 ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837 T;T;T;T 0.80738 -1.41;-1.41;-1.34;-1.4 5.91 5.91 0.95273 Cysteine-rich flanking region, C-terminal (1); 0.000000 0.85682 D 0.000000 D 0.89199 0.6647 M 0.62088 1.915 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.88716 0.3226 10 0.62326 D 0.03 . 20.2896 0.98541 0.0:0.0:1.0:0.0 . 679;687 O94813-3;O94813 .;SLIT2_HUMAN R 679;687;691;683;683 ENSP00000427548:G679R;ENSP00000422591:G687R;ENSP00000273739:G691R;ENSP00000422261:G683R ENSP00000273739:G691R G + 1 0 SLIT2 20152256 1.000000 0.71417 0.978000 0.43139 0.909000 0.53808 9.471000 0.97696 2.794000 0.96219 0.655000 0.94253 GGA SLIT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250396.2 -4.809987 0 9 76 0 0 1 0 3 6.678549 52 0.054545 SHPK 23729 broad.mit.edu hg19 17 3514063 3514063 + Silent SNP G G A TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr17:3514063G>A ENST00000225519.3 - 7 1330 c.1228C>T c.(1228-1230)Ctg>Ttg p.L410L NM_013276.2 NP_037408 Q9UHJ6 SHPK_HUMAN sedoheptulokinase 410 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) ATGGAGTGCAGGTTCTGAACA 0.632 0 122.0 123.0 123.0 17 3514063 2203 4300 6503 SO:0001819 synonymous_variant AF163573 CCDS11030.1 17p13 2008-02-08 2008-02-08 2008-02-08 ENSG00000197417 ENSG00000197417 1492 protein-coding gene gene with protein product 605060 """carbohydrate kinase-like""" CARKL 10673275, 18186520 Standard NM_013276 Approved SHK uc002fvz.1 Q9UHJ6 OTTHUMG00000090694 ENST00000225519.3:c.1228C>T 17.37:g.3514063G>A B2R640|Q8WUH3 ENST00000225519.3 37 CCDS11030.1 SHPK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207378.2 123.454648 0 -13 112 0 0 1 0 38 123.566422 32 0.542857 LAMA1 284217 broad.mit.edu hg19 18 6999964 6999964 + Missense_Mutation SNP T T C TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr18:6999964T>C ENST00000389658.3 - 31 4508 c.4415A>G c.(4414-4416)cAc>cGc p.H1472R NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1472 Laminin EGF-like 16. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) ACGGAAATCGTGGTCCCCTTC 0.423 0 77.0 68.0 71.0 18 6999964 2203 4300 6503 SO:0001583 missense X58531 CCDS32787.1 18p11.3 2013-03-01 ENSG00000101680 ENSG00000101680 """Laminins""" 6481 protein-coding gene gene with protein product 150320 LAMA 2591971 Standard NM_005559 Approved uc002knm.3 P25391 OTTHUMG00000133478 ENST00000389658.3:c.4415A>G 18.37:g.6999964T>C ENSP00000374309:p.His1472Arg ENST00000389658.3 37 CCDS32787.1 . . . . . . . . . . T 5.540 0.284495 0.10513 . . ENSG00000101680 ENST00000389658 T 0.62364 0.03 5.43 -2.46 0.06461 EGF-like, laminin (3); 1.471490 0.03930 N 0.285182 T 0.45216 0.1331 N 0.19112 0.55 0.09310 N 1 B 0.25719 0.132 B 0.31101 0.124 T 0.24870 -1.0148 10 0.15499 T 0.54 . 7.4081 0.27001 0.0:0.2705:0.1162:0.6132 . 1472 P25391 LAMA1_HUMAN R 1472 ENSP00000374309:H1472R ENSP00000374309:H1472R H - 2 0 LAMA1 6989964 0.000000 0.05858 0.000000 0.03702 0.036000 0.12997 0.464000 0.21988 -0.581000 0.05937 -0.242000 0.12053 CAC LAMA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257369.1 7.886176 0 -14 22 0 0 1 0 NM_005559 4 9.979212 18 0.181818 ARHGAP39 80728 broad.mit.edu hg19 8 145773633 145773634 + Frame_Shift_Del DEL GG GG - TCGA-VD-AA8M-01A-11D-A39W-08 TCGA-VD-AA8M-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 944a308f-a7f5-4601-8de6-a7b13fd87ff6 0e406133-a743-4957-991f-d050adb9f6a2 g.chr8:145773633_145773634delGG ENST00000276826.5 - 4 1037_1038 c.836_837delCC c.(835-837)gccfs p.A279fs ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.A279fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.A279fs Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 279 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CTGGGAGCTCGGCCCTCTTCAG 0.693 0 SO:0001589 frameshift_variant CCDS34971.1 8q24.3 2011-06-29 ENSG00000147799 ENSG00000147799 """Rho GTPase activating proteins""" 29351 protein-coding gene gene with protein product """RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)""" 615880 15755809 Standard XM_005272344 Approved KIAA1688, Vilse, CrGAP uc003zds.1 Q9C0H5 OTTHUMG00000165182 ENST00000276826.5:c.836_837delCC 8.37:g.145773633_145773634delGG ENSP00000276826:p.Ala279fs B4E1I1 ENST00000276826.5 37 ARHGAP39-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000382509.1 . . 0 9 3 5 0.38