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 DAPK1 1612 broad.mit.edu hg19 9 90321557 90321557 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:90321557G>A ENST00000469640.2 + 27 4021 c.3646G>A c.(3646-3648)Ggc>Agc p.G1216S DAPK1_ENST00000472284.1_Missense_Mutation_p.G1191S|DAPK1_ENST00000408954.3_Missense_Mutation_p.G1191S|DAPK1_ENST00000358077.5_Missense_Mutation_p.G1191S|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1125S P53355 DAPK1_HUMAN death-associated protein kinase 1 1191 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 GGTCAACCACGGCCAGGGCAT 0.642 0 27.0 31.0 29.0 9 90321557 2161 4252 6413 SO:0001583 missense X76104 CCDS43842.1 9q34.1 2013-01-10 ENSG00000196730 ENSG00000196730 """Ankyrin repeat domain containing""" 2674 protein-coding gene gene with protein product 600831 8530096 Standard XM_005251757 Approved DAPK uc004apd.3 P53355 OTTHUMG00000020150 ENST00000491893.1:c.3373G>A 9.37:g.90321557G>A ENSP00000419026:p.Gly1125Ser B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8 ENST00000491893.1 37 . . . . . . . . . . G 27.6 4.849831 0.91277 . . ENSG00000196730 ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893 T;T;T;T;T 0.69040 -0.33;-0.33;-0.34;-0.33;-0.37 5.51 5.51 0.81932 . 0.000000 0.52532 D 0.000061 T 0.81307 0.4795 M 0.66939 2.045 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.72625 0.962;0.978;0.962 T 0.82299 -0.0526 10 0.66056 D 0.02 . 19.4155 0.94694 0.0:0.0:1.0:0.0 . 1125;1191;1191 B7ZLE7;P53355-3;P53355 .;.;DAPK1_HUMAN S 1191;1191;1216;1191;1125 ENSP00000350785:G1191S;ENSP00000417076:G1191S;ENSP00000418885:G1216S;ENSP00000386135:G1191S;ENSP00000419026:G1125S ENSP00000350785:G1191S G + 1 0 DAPK1 89511377 1.000000 0.71417 0.993000 0.49108 0.885000 0.51271 9.869000 0.99810 2.589000 0.87451 0.561000 0.74099 GGC DAPK1-011 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000356844.1 42.079985 0 -7 19 0 0 1 0 NM_004938 13 42.476994 7 0.650000 COL4A1 1282 broad.mit.edu hg19 13 110862385 110862385 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr13:110862385G>A ENST00000375820.4 - 10 678 c.557C>T c.(556-558)cCa>cTa p.P186L COL4A1_ENST00000543140.1_Missense_Mutation_p.P186L NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 186 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGTCCTGGTGGGCCCTAGAA 0.502 0 68.0 72.0 70.0 13 110862385 2203 4300 6503 SO:0001583 missense J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 """Collagens""" 2202 protein-coding gene gene with protein product 120130 3691802 Standard NM_001845 Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.557C>T 13.37:g.110862385G>A ENSP00000364979:p.Pro186Leu A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 ENST00000375820.4 37 CCDS9511.1 . . . . . . . . . . G 9.727 1.161313 0.21538 . . ENSG00000187498 ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140 D;D 0.97731 -4.51;-4.51 5.0 3.27 0.37495 . 0.762691 0.11760 N 0.532133 D 0.93749 0.8002 L 0.35487 1.065 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.82904 -0.0226 10 0.09084 T 0.74 . 9.6694 0.40004 0.2257:0.0:0.7743:0.0 . 186;186 F5H5K0;P02462 .;CO4A1_HUMAN L 177;186;186;186 ENSP00000364979:P186L;ENSP00000443348:P186L ENSP00000364973:P177L P - 2 0 COL4A1 109660386 0.000000 0.05858 0.001000 0.08648 0.158000 0.22134 0.770000 0.26618 0.623000 0.30267 0.637000 0.83480 CCA COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045759.3 58.854238 0 -10 33 0 0 1 0 18 59.030113 13 0.580645 CDH18 1016 broad.mit.edu hg19 5 19721471 19721471 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:19721471C>T ENST00000507958.1 - 7 1618 c.628G>A c.(628-630)Gtc>Atc p.V210I CDH18_ENST00000506372.1_Missense_Mutation_p.V210I|CDH18_ENST00000511273.1_Missense_Mutation_p.V210I|CDH18_ENST00000502796.1_Missense_Mutation_p.V210I|CDH18_ENST00000382275.1_Missense_Mutation_p.V210I|CDH18_ENST00000274170.4_Missense_Mutation_p.V210I Q13634 CAD18_HUMAN cadherin 18, type 2 210 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTAGGGTCGACGGAGAAGTAG 0.448 1 167.0 147.0 154.0 5 19721471 2203 4300 6503 SO:0001583 missense U59325 CCDS3889.1, CCDS54835.1, CCDS75229.1 5p14.3 2010-01-26 ENSG00000145526 ENSG00000145526 """Cadherins / Major cadherins""" 1757 protein-coding gene gene with protein product 603019 9030594, 10191097 Standard NM_004934 Approved CDH14, EY-CADHERIN uc003jgd.3 Q13634 OTTHUMG00000090578 ENST00000506372.1:c.628G>A 5.37:g.19721471C>T ENSP00000424931:p.Val210Ile A8K0I2|B4DHG6|Q8N5Z2 ENST00000506372.1 37 . . . . . . . . . . C 15.62 2.885980 0.51908 . . ENSG00000145526 ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273 T;T;T;T;T;T;T 0.39056 1.1;1.1;1.1;1.1;1.1;1.1;1.1 5.5 5.5 0.81552 Cadherin (4);Cadherin-like (1); 0.000000 0.85682 D 0.000000 T 0.39036 0.1063 N 0.02985 -0.445 0.58432 D 0.999996 B;D 0.89917 0.346;1.0 B;D 0.65443 0.122;0.935 T 0.49688 -0.8913 9 . . . . 17.9639 0.89094 0.0:1.0:0.0:0.0 . 210;210 B4DHG6;Q13634 .;CAD18_HUMAN I 210;210;210;210;210;210;156;210 ENSP00000371710:V210I;ENSP00000425093:V210I;ENSP00000274170:V210I;ENSP00000424931:V210I;ENSP00000422138:V210I;ENSP00000427383:V156I;ENSP00000425854:V210I . V - 1 0 CDH18 19757228 1.000000 0.71417 0.973000 0.42090 0.311000 0.27955 5.986000 0.70563 2.571000 0.86741 0.650000 0.86243 GTC CDH18-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000366746.1 3.584844 0 -5 117 0 0 1 0 NM_004934 9 19.068723 85 0.095745 ASB11 0 broad.mit.edu hg19 X 15306030 15306030 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:15306030C>T ENST00000537676.1 - 6 829 c.757G>A c.(757-759)Gtg>Atg p.V253M ASB11_ENST00000344384.4_Missense_Mutation_p.V253M|ASB11_ENST00000480796.1_Missense_Mutation_p.V274M|ASB11_ENST00000380470.3_Missense_Mutation_p.V257M Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 274 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) GCCTGCTCCACGCTGCTTTTT 0.522 0 99.0 77.0 85.0 X 15306030 2203 4300 6503 SO:0001583 missense AF425642 CCDS14164.1, CCDS35209.1, CCDS56596.1 Xp22.31 2014-02-10 2014-02-10 ENSG00000165192 ENSG00000165192 """Ankyrin repeat domain containing""" 17186 protein-coding gene gene with protein product 300626 """ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11""" 24337577 Standard NM_080873 Approved DKFZp779E2460 uc004cwp.2 Q8WXH4 OTTHUMG00000021173 ENST00000480796.1:c.820G>A X.37:g.15306030C>T ENSP00000417914:p.Val274Met E9PEN1|Q3SYC4|Q7Z667 ENST00000480796.1 37 CCDS14164.1 . . . . . . . . . . C 18.36 3.606762 0.66558 . . ENSG00000165192 ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796 T;T;T;T 0.66638 -0.22;-0.22;-0.22;-0.22 5.44 3.68 0.42216 SOCS protein, C-terminal (1);Ankyrin repeat-containing domain (4); 0.195013 0.35970 N 0.002868 T 0.73009 0.3532 L 0.43757 1.38 0.42153 D 0.99156 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.91635 0.981;0.999;0.999 T 0.70171 -0.4945 10 0.42905 T 0.14 -2.7402 10.2954 0.43620 0.0:0.8372:0.0:0.1628 . 257;274;253 Q7Z667;Q8WXH4;E9PEN1 .;ASB11_HUMAN;. M 253;257;253;274 ENSP00000445465:V253M;ENSP00000369837:V257M;ENSP00000343408:V253M;ENSP00000417914:V274M ENSP00000343408:V253M V - 1 0 ASB11 15215951 0.975000 0.34042 0.294000 0.24946 0.937000 0.57800 2.446000 0.44908 0.506000 0.28125 0.523000 0.50628 GTG ASB11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055852.2 10.722547 0 -7 66 0 0 1 0 6 15.651433 35 0.146341 MATN4 8785 broad.mit.edu hg19 20 43936911 43936911 + Translation_Start_Site SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:43936911G>A ENST00000537548.1 - 0 114 MATN4_ENST00000360607.6_De_novo_Start_InFrame|RBPJL_ENST00000343694.3_Intron|MATN4_ENST00000372751.4_De_novo_Start_InFrame|MATN4_ENST00000342716.4_De_novo_Start_InFrame|RBPJL_ENST00000372741.3_Intron|MATN4_ENST00000353917.5_De_novo_Start_InFrame|RBPJL_ENST00000372743.1_Intron O95460 MATN4_HUMAN matrilin 4 extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GCGTGGCAGCGTGCCCTAGGT 0.667 0 28.0 30.0 29.0 20 43936911 2203 4299 6502 AJ007581 CCDS13348.1, CCDS46607.1 20q13.1-q13.2 2008-07-07 ENSG00000124159 ENSG00000124159 6910 protein-coding gene gene with protein product 603897 9827539, 9027493 Standard NM_003833 Approved uc002xnn.2 O95460 OTTHUMG00000033043 20.37:g.43936911G>A A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9 ENST00000360607.6 37 CCDS46607.1 MATN4-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000472010.1 43.683183 0 0 37 0 0 1 0 13 44.772243 4 0.764706 CCDC8 83987 broad.mit.edu hg19 19 46915352 46915352 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:46915352G>A ENST00000307522.3 - 1 1489 c.716C>T c.(715-717)gCg>gTg p.A239V NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 239 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GCCCTCTGGCGCCGATGATAC 0.706 0 25.0 30.0 28.0 19 46915352 2195 4292 6487 SO:0001583 missense BC025243 CCDS12685.1 19q13.33 2012-04-17 ENSG00000169515 ENSG00000169515 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 25367 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 20""" 614145 11230166 Standard NM_032040 Approved DKFZp564K0322, 3M3, PPP1R20 uc002pep.3 Q9H0W5 OTTHUMG00000162348 ENST00000307522.3:c.716C>T 19.37:g.46915352G>A ENSP00000303158:p.Ala239Val Q8TB26 ENST00000307522.3 37 CCDS12685.1 . . . . . . . . . . G 6.410 0.443821 0.12164 . . ENSG00000169515 ENST00000307522 T 0.11712 2.75 2.68 -4.27 0.03744 . 4.673350 0.00447 N 0.000097 T 0.02888 0.0086 N 0.00926 -1.1 0.09310 N 1 B 0.18610 0.029 B 0.06405 0.002 T 0.31696 -0.9934 10 0.21014 T 0.42 4.8503 2.6164 0.04905 0.3635:0.0:0.2813:0.3552 . 239 Q9H0W5 CCDC8_HUMAN V 239 ENSP00000303158:A239V ENSP00000303158:A239V A - 2 0 CCDC8 51607192 0.003000 0.15002 0.000000 0.03702 0.000000 0.00434 -0.355000 0.07671 -0.839000 0.04212 -0.806000 0.03193 GCG CCDC8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000368598.1 49.226789 0 7 48 0 0 1 0 NM_032040 18 49.794904 29 0.382979 TRAV40 0 broad.mit.edu hg19 14 22783266 22783266 + RNA SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:22783266G>A ENST00000390467.3 + 0 232 CTTCGGAGGCGGAAATATTAA 0.458 0 61.0 65.0 63.0 14 22783266 1807 4067 5874 X73521 14q11.2 2012-02-07 ENSG00000211819 ENSG00000211819 """T cell receptors / TRA locus""" 12141 other T cell receptor gene 8412327 Standard NG_001332 Approved TCRAV31S1, TCRAV40S1 OTTHUMG00000170840 14.37:g.22783266G>A ENST00000390467.3 37 TRAV40-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene TR_V_gene OTTHUMT00000410666.1 -1.678593 0 -4 64 0 0 1 0 NG_001332 5 11.300143 64 0.072464 CNTN2 6900 broad.mit.edu hg19 1 205036303 205036303 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:205036303C>T ENST00000331830.4 + 16 2334 c.2050C>T c.(2050-2052)Cgg>Tgg p.R684W NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 684 Fibronectin type-III 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTATGAGTTCCGGGTCATAGC 0.577 0 89.0 88.0 89.0 1 205036303 2203 4300 6503 SO:0001583 missense X67734 CCDS1449.1 1q32.1 2013-02-11 ENSG00000184144 ENSG00000184144 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 2172 protein-coding gene gene with protein product 190197 TAX, AXT 8307567, 8586965 Standard NM_005076 Approved TAG-1, TAX1 uc001hbr.3 Q02246 OTTHUMG00000037105 ENST00000331830.4:c.2050C>T 1.37:g.205036303C>T ENSP00000330633:p.Arg684Trp P78432|Q5T054 ENST00000331830.4 37 CCDS1449.1 . . . . . . . . . . C 22.3 4.265336 0.80358 . . ENSG00000184144 ENST00000331830 T 0.60920 0.15 5.51 5.51 0.81932 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.45361 D 0.000380 D 0.88284 0.6395 H 0.99806 4.795 0.47621 D 0.999478 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.93732 0.7042 10 0.87932 D 0 . 19.014 0.92886 0.0:1.0:0.0:0.0 . 684;575 Q02246;Q68DA2 CNTN2_HUMAN;. W 684 ENSP00000330633:R684W ENSP00000330633:R684W R + 1 2 CNTN2 203302926 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 2.472000 0.45136 2.590000 0.87494 0.467000 0.42956 CGG CNTN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090080.3 5.506858 0 8 96 0 0 1 0 NM_005076 6 14.587937 52 0.103448 DUSP11 8446 broad.mit.edu hg19 2 74002108 74002108 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:74002108G>A ENST00000443070.1 - 3 387 c.382C>T c.(382-384)Cga>Tga p.R128* DUSP11_ENST00000272444.3_Nonsense_Mutation_p.R128*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Nonsense_Mutation_p.R81* O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 81 Tyrosine-protein phosphatase. RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 TTTTGTTCTCGGATTTTGTTA 0.338 1 92.0 95.0 94.0 2 74002108 2203 4300 6503 SO:0001587 stop_gained AF023917 CCDS1928.2 2p13.1 2011-06-09 ENSG00000144048 ENSG00000144048 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases""" 3066 protein-coding gene gene with protein product 603092 9685386 Standard NM_003584 Approved PIR1 uc002sjp.3 O75319 OTTHUMG00000129816 ENST00000272444.3:c.382C>T 2.37:g.74002108G>A ENSP00000272444:p.Arg128* B2RCT8|Q6AI47|Q9BWE3 ENST00000272444.3 37 CCDS1928.2 . . . . . . . . . . G 12.05 1.822595 0.32237 . . ENSG00000144048 ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812 . . . 4.71 0.909 0.19332 . 0.904261 0.09730 N 0.763308 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -0.1216 3.2235 0.06724 0.1599:0.136:0.5637:0.1404 . . . . X 128;128;81;79 . ENSP00000272444:R128X R - 1 2 DUSP11 73855616 0.998000 0.40836 0.109000 0.21407 0.127000 0.20565 1.602000 0.36783 0.060000 0.16281 -0.137000 0.14449 CGA DUSP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252047.3 50.126274 0 -4 53 0 0 1 0 15 50.133778 14 0.517241 CNGA2 1260 broad.mit.edu hg19 X 150908176 150908176 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:150908176G>A ENST00000329903.4 + 3 379 c.346G>A c.(346-348)Gac>Aac p.D116N NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 116 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TGGCAAAGGCGACAAGGATGG 0.532 0 129.0 97.0 108.0 X 150908176 2203 4300 6503 SO:0001583 missense S76067 CCDS14701.1 Xq27 2011-07-05 ENSG00000183862 ENSG00000183862 """Voltage-gated ion channels / Cyclic nucleotide-regulated channels""" 2149 protein-coding gene gene with protein product 300338 CNCA1, CNCA 7532814, 16382102 Standard NM_005140 Approved CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312 uc004fey.1 Q16280 OTTHUMG00000024173 ENST00000329903.4:c.346G>A X.37:g.150908176G>A ENSP00000328478:p.Asp116Asn A0AVD0 ENST00000329903.4 37 CCDS14701.1 . . . . . . . . . . G 10.91 1.482817 0.26598 . . ENSG00000183862 ENST00000329903 D 0.97279 -4.32 5.58 -0.754 0.11065 . 0.286206 0.37623 N 0.002004 D 0.89483 0.6728 L 0.29908 0.895 0.25493 N 0.987627 B 0.29766 0.256 B 0.18871 0.023 T 0.80948 -0.1154 10 0.07644 T 0.81 . 5.3436 0.15996 0.309:0.248:0.443:0.0 . 116 Q16280 CNGA2_HUMAN N 116 ENSP00000328478:D116N ENSP00000328478:D116N D + 1 0 CNGA2 150658832 1.000000 0.71417 0.973000 0.42090 0.445000 0.32107 1.703000 0.37846 -0.301000 0.08882 0.529000 0.55759 GAC CNGA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060888.1 31.175923 0 2 87 0 0 1 0 NM_005140 12 34.080393 37 0.244898 GRIK4 2900 broad.mit.edu hg19 11 120827588 120827588 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:120827588G>A ENST00000527524.2 + 16 2087 c.1800G>A c.(1798-1800)ccG>ccA p.P600P GRIK4_ENST00000438375.2_Silent_p.P600P NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 600 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) TCTGGTTTCCGGTCGGGGGGT 0.642 0 66.0 55.0 59.0 11 120827588 2203 4299 6502 SO:0001819 synonymous_variant S67803 CCDS8433.1 11q23.3 2012-08-29 ENSG00000149403 ENSG00000149403 """Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors""" 4582 protein-coding gene gene with protein product 600282 GRIK Standard NM_001282470 Approved GluK4, KA1 uc009zax.1 Q16099 OTTHUMG00000048255 ENST00000527524.2:c.1800G>A 11.37:g.120827588G>A A8K9L1 ENST00000527524.2 37 CCDS8433.1 GRIK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109760.4 2.165198 0 -4 51 0 0 1 0 NM_014619 4 9.848179 41 0.088889 ADAD2 161931 broad.mit.edu hg19 16 84229876 84229876 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:84229876G>A ENST00000268624.3 + 9 1765 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K ADAD2_ENST00000315906.5_Missense_Mutation_p.E476K|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 476 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 GGCCCCTTCCGAACCCACCCC 0.697 0 38.0 46.0 43.0 16 84229876 2197 4297 6494 SO:0001583 missense AF447586 CCDS10944.1, CCDS45536.1 16q24.1 2007-05-31 ENSG00000140955 ENSG00000140955 30714 protein-coding gene gene with protein product Standard NM_139174 Approved TENRL, FLJ00337 uc002fhr.2 Q8NCV1 OTTHUMG00000137637 ENST00000315906.5:c.1426G>A 16.37:g.84229876G>A ENSP00000325153:p.Glu476Lys B2RCL6|Q8NA94 ENST00000315906.5 37 CCDS45536.1 . . . . . . . . . . G 8.301 0.819980 0.16678 . . ENSG00000140955 ENST00000315906;ENST00000268624 D;D 0.93133 -3.17;-3.17 5.15 -1.94 0.07571 Adenosine deaminase/editase (2); 1.169020 0.06144 N 0.672863 T 0.78207 0.4247 N 0.01464 -0.85 0.09310 N 1 B;B 0.26195 0.142;0.144 B;B 0.14578 0.011;0.009 T 0.68228 -0.5464 10 0.10902 T 0.67 -11.2126 9.1316 0.36848 0.5547:0.0:0.4453:0.0 . 476;558 Q8NCV1;Q8NCV1-2 ADAD2_HUMAN;. K 476;558 ENSP00000325153:E476K;ENSP00000268624:E558K ENSP00000268624:E558K E + 1 0 ADAD2 82787377 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.435000 0.06931 -0.547000 0.06207 0.655000 0.94253 GAA ADAD2-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433385.1 13.589305 0 21 99 0 0 1 0 NM_139174 9 20.595369 51 0.150000 IMP4 92856 broad.mit.edu hg19 2 131103363 131103363 + Missense_Mutation SNP G G A rs11542413 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:131103363G>A ENST00000259239.3 + 6 1159 c.451G>A c.(451-453)Gtc>Atc p.V151I IMP4_ENST00000409935.1_Missense_Mutation_p.V151I NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 151 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) GGGGCTCATCGTCAGCCACCT 0.647 0 93.0 91.0 92.0 2 131103363 2203 4300 6503 SO:0001583 missense BC010042 CCDS2160.1 2q21.1 2014-02-19 2014-02-19 ENSG00000136718 ENSG00000136718 30856 protein-coding gene gene with protein product 612981 """IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)""" 8619474, 9110174, 12655004 Standard NM_033416 Approved MGC19606, BXDC4 uc002tra.1 Q96G21 OTTHUMG00000131627 ENST00000259239.3:c.451G>A 2.37:g.131103363G>A ENSP00000259239:p.Val151Ile Q3ZTT3 ENST00000259239.3 37 CCDS2160.1 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 G 12.80 2.047974 0.36085 . . ENSG00000136718 ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740 T;T;T;T 0.39997 1.05;1.05;1.05;1.05 5.18 3.39 0.38822 Brix domain (3);Anticodon-binding (1); 0.000000 0.85682 D 0.000000 T 0.20007 0.0481 N 0.08118 0 0.54753 D 0.99998 B 0.26975 0.165 B 0.28011 0.085 T 0.04708 -1.0932 10 0.09338 T 0.73 -35.085 9.9151 0.41430 0.1672:0.0:0.8328:0.0 rs11542413 151 Q96G21 IMP4_HUMAN I 151;151;66;96 ENSP00000259239:V151I;ENSP00000386411:V151I;ENSP00000386716:V66I;ENSP00000389701:V96I ENSP00000259239:V151I V + 1 0 IMP4 130819833 0.995000 0.38212 0.998000 0.56505 0.981000 0.71138 2.231000 0.43009 0.701000 0.31803 -0.123000 0.14984 GTC IMP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254520.2 76.502618 0 -6 66 0 0 1 0 NM_033416 24 76.581633 20 0.545455 RYR2 6262 broad.mit.edu hg19 1 237870347 237870347 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:237870347C>T ENST00000366574.2 + 68 9996 c.9679C>T c.(9679-9681)Cgc>Tgc p.R3227C RYR2_ENST00000360064.6_Missense_Mutation_p.R3225C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3211C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3227 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTCCGGCATTCGCTACACTCA 0.473 0 122.0 120.0 121.0 1 237870347 1998 4192 6190 SO:0001583 missense X91869 CCDS55691.1 1q43 2014-09-17 ENSG00000198626 ENSG00000198626 """Ion channels / Ryanodine receptors"", ""EF-hand domain containing""" 10484 protein-coding gene gene with protein product 180902 """arrhythmogenic right ventricular dysplasia 2""" ARVD2 2380170, 8406504, 11159936 Standard NM_001035 Approved ARVC2, VTSIP uc001hyl.1 Q92736 OTTHUMG00000039543 ENST00000366574.2:c.9679C>T 1.37:g.237870347C>T ENSP00000355533:p.Arg3227Cys Q15411|Q546N8|Q5T3P2 ENST00000366574.2 37 CCDS55691.1 . . . . . . . . . . C 22.0 4.231190 0.79688 . . ENSG00000198626 ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288 T;D;T 0.88586 -0.23;-2.4;-0.23 5.72 5.72 0.89469 . 0.000000 0.64402 D 0.000009 D 0.94019 0.8084 M 0.82630 2.6 0.80722 D 1 D 0.76494 0.999 P 0.56960 0.81 D 0.94377 0.7601 10 0.87932 D 0 -11.2401 19.8946 0.96949 0.0:1.0:0.0:0.0 . 3227 Q92736 RYR2_HUMAN C 3227;3225;3211;182 ENSP00000355533:R3227C;ENSP00000353174:R3225C;ENSP00000443798:R3211C ENSP00000353174:R3225C R + 1 0 RYR2 235936970 0.997000 0.39634 1.000000 0.80357 0.997000 0.91878 3.248000 0.51430 2.711000 0.92665 0.655000 0.94253 CGC RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095402.2 96.850339 0 18 87 0 0 1 0 NM_001035 30 96.853848 31 0.491803 SGK223 0 broad.mit.edu hg19 8 8175725 8175725 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:8175725G>A ENST00000520004.1 - 6 4424 c.4160C>T c.(4159-4161)gCg>gTg p.A1387V SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V Q86YV5 SG223_HUMAN 1387 ATP binding|non-membrane spanning protein tyrosine kinase activity CCCGGGCTCCGCAGACGCCAG 0.647 0 37.0 46.0 43.0 8 8175725 2019 4175 6194 SO:0001583 missense ENST00000520004.1:c.4160C>T 8.37:g.8175725G>A ENSP00000428054:p.Ala1387Val Q8N3N5 ENST00000520004.1 37 CCDS43706.1 . . . . . . . . . . G 21.7 4.190369 0.78789 . . ENSG00000182319 ENST00000330777;ENST00000520004 T;T 0.14516 2.5;2.5 5.48 5.48 0.80851 . 0.054657 0.64402 D 0.000001 T 0.34948 0.0915 L 0.55213 1.73 0.80722 D 1 D 0.89917 1.0 D 0.75020 0.985 T 0.01613 -1.1312 10 0.87932 D 0 . 18.7301 0.91731 0.0:0.0:1.0:0.0 . 1387 Q86YV5 SG223_HUMAN V 1387 ENSP00000330930:A1387V;ENSP00000428054:A1387V ENSP00000330930:A1387V A - 2 0 AC068353.1 8213135 1.000000 0.71417 0.163000 0.22734 0.480000 0.33159 9.825000 0.99386 2.748000 0.94277 0.462000 0.41574 GCG SGK223-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374864.1 54.476626 0 3 54 0 0 1 0 17 54.503808 15 0.531250 KLHL41 10324 broad.mit.edu hg19 2 170366495 170366495 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:170366495G>A ENST00000284669.1 + 1 284 c.207G>A c.(205-207)gcG>gcA p.A69A BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TTGATGAGGCGAAAAAAAAGG 0.393 0 147.0 146.0 146.0 2 170366495 2203 4300 6503 SO:0001819 synonymous_variant AF056929 CCDS2234.1 2q31.1 2013-02-22 2013-02-22 2013-01-08 ENSG00000239474 ENSG00000239474 """Kelch-like"", ""BTB/POZ domain containing""" 16905 protein-coding gene gene with protein product """sarcomeric muscle protein""" 607701 """kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)""" KBTBD10 9655184 Standard NM_006063 Approved SARCOSIN, Krp1 uc002ueu.1 O60662 OTTHUMG00000132205 ENST00000284669.1:c.207G>A 2.37:g.170366495G>A Q53R42 ENST00000284669.1 37 CCDS2234.1 KLHL41-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255263.1 26.755787 0 -8 109 0 0 1 0 NM_006063 15 39.194590 88 0.145631 C2orf54 79919 broad.mit.edu hg19 2 241829490 241829490 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:241829490C>T ENST00000307486.8 - 3 477 c.379G>A c.(379-381)Gac>Aac p.D127N C2orf54_ENST00000402775.2_Missense_Mutation_p.D108N|C2orf54_ENST00000388934.4_Missense_Mutation_p.D276N NM_001282921.1 NP_001269850.1 Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 276 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) TTGACCCGGTCGAGGATGGAG 0.662 0 47.0 56.0 53.0 2 241829490 2096 4219 6315 SO:0001583 missense AK026324, AK056601 CCDS42839.1, CCDS42840.1, CCDS63187.1 2q37.3 2011-02-23 ENSG00000172478 ENSG00000172478 26216 protein-coding gene gene with protein product Standard NM_001282921 Approved FLJ22671 uc002wae.4 Q08AI8 OTTHUMG00000151906 ENST00000388934.4:c.826G>A 2.37:g.241829490C>T ENSP00000373586:p.Asp276Asn B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622 ENST00000388934.4 37 CCDS42839.1 . . . . . . . . . . C 17.15 3.315665 0.60524 . . ENSG00000172478 ENST00000402775;ENST00000307486;ENST00000388934 T;T;T 0.07567 3.18;3.18;3.18 3.73 3.73 0.42828 . 0.253393 0.27851 N 0.017592 T 0.26629 0.0651 M 0.72118 2.19 0.33082 D 0.536817 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.73380 0.97;0.98;0.922 T 0.40683 -0.9550 10 0.87932 D 0 0.7157 14.1323 0.65263 0.0:1.0:0.0:0.0 . 276;127;108 Q08AI8;B3KU29;Q08AI8-3 CB054_HUMAN;.;. N 108;127;276 ENSP00000385338:D108N;ENSP00000302779:D127N;ENSP00000373586:D276N ENSP00000302779:D127N D - 1 0 C2orf54 241478163 0.954000 0.32549 0.996000 0.52242 0.458000 0.32498 1.500000 0.35682 1.832000 0.53329 0.555000 0.69702 GAC C2orf54-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000324353.1 6.582204 0 11 60 0 0 1 0 NM_024861, NM_001085437 4 9.791090 23 0.148148 SSPO 23145 broad.mit.edu hg19 7 149515812 149515812 + RNA SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:149515812C>T ENST00000378016.2 + 0 11713 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTGCATGGCGCAGCCGCAC 0.687 0 16.0 18.0 17.0 7 149515812 1986 4157 6143 AK093431 7q36.1 2013-08-07 2013-08-06 ENSG00000197558 ENSG00000197558 21998 protein-coding gene gene with protein product """subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing""" """SCO-spondin homolog (Bos taurus)""" 8743952, 11008217 Standard NM_198455 Approved SCO-spondin, KIAA0543, FLJ36112 uc010lpk.3 A2VEC9 OTTHUMG00000157884 7.37:g.149515812C>T Q76B61 ENST00000378016.2 37 SSPO-202 KNOWN basic processed_transcript processed_transcript 8.835016 0 11 27 0 0 1 0 5 10.001749 15 0.250000 ELMO2 63916 broad.mit.edu hg19 20 45000478 45000478 + Missense_Mutation SNP A A G TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:45000478A>G ENST00000372176.1 - 17 1751 c.1283T>C c.(1282-1284)aTg>aCg p.M428T ELMO2_ENST00000439931.2_Missense_Mutation_p.M528T|ELMO2_ENST00000454865.2_Missense_Mutation_p.M248T|ELMO2_ENST00000396391.1_Missense_Mutation_p.M516T|ELMO2_ENST00000352077.2_Missense_Mutation_p.M514T|ELMO2_ENST00000445496.2_Missense_Mutation_p.M333T|ELMO2_ENST00000290246.6_Missense_Mutation_p.M516T Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 516 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) ATCCTGACTCATCCTCTCAGA 0.547 0 79.0 73.0 75.0 20 45000478 2203 4300 6503 SO:0001583 missense AF398886 CCDS13398.1 20q13 2010-03-18 2006-01-20 ENSG00000062598 ENSG00000062598 """Engulfment and cell motility proteins""" 17233 protein-coding gene gene with protein product 606421 """engulfment and cell motility 2 (ced-12 homolog, C. elegans)""" 11595183 Standard NM_133171 Approved CED12, ELMO-2, CED-12, KIAA1834, FLJ11656 uc002xru.1 Q96JJ3 OTTHUMG00000033070 ENST00000290246.6:c.1547T>C 20.37:g.45000478A>G ENSP00000290246:p.Met516Thr E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6 ENST00000290246.6 37 CCDS13398.1 . . . . . . . . . . A 5.037 0.192575 0.09599 . . ENSG00000062598 ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077 T;T;T;T;T;T;T;T 0.42513 0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97 4.79 4.79 0.61399 . 0.037568 0.85682 D 0.000000 T 0.25494 0.0620 N 0.20685 0.6 0.80722 D 1 B;B;B;B 0.16802 0.019;0.0;0.008;0.008 B;B;B;B 0.21151 0.016;0.002;0.033;0.024 T 0.07731 -1.0757 10 0.02654 T 1 -26.9287 13.9627 0.64191 1.0:0.0:0.0:0.0 . 528;248;333;516 B4DRL5;B4DZ20;B7Z1S8;Q96JJ3 .;.;.;ELMO2_HUMAN T 516;428;83;516;528;333;248;514 ENSP00000290246:M516T;ENSP00000361249:M428T;ENSP00000414329:M83T;ENSP00000379673:M516T;ENSP00000396519:M528T;ENSP00000409920:M333T;ENSP00000415641:M248T;ENSP00000326172:M514T ENSP00000290246:M516T M - 2 0 ELMO2 44433885 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.087000 0.94110 2.129000 0.65627 0.533000 0.62120 ATG ELMO2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080466.1 -2.739875 0 -18 65 0 0 1 0 NM_022086 4 8.392302 54 0.068966 ASCC3 10973 broad.mit.edu hg19 6 101075824 101075824 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:101075824C>T ENST00000369162.2 - 28 4759 c.4415G>A c.(4414-4416)cGa>cAa p.R1472Q NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1472 Helicase ATP-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AAAATTTGTTCGAGATACAAT 0.393 0 108.0 105.0 106.0 6 101075824 2203 4300 6503 SO:0001583 missense AJ223948 CCDS5046.1, CCDS5047.1, CCDS75497.1 6q16 2008-02-05 2004-07-28 ENSG00000112249 ENSG00000112249 18697 protein-coding gene gene with protein product """RNA helicase family""" 614217 """helicase, ATP binding 1""" HELIC1 10218103 Standard NM_006828 Approved RNAH, ASC1p200, dJ121G13.4, dJ467N11.1 uc003pqk.3 Q8N3C0 OTTHUMG00000015279 ENST00000369162.2:c.4415G>A 6.37:g.101075824C>T ENSP00000358159:p.Arg1472Gln E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0 ENST00000369162.2 37 CCDS5046.1 . . . . . . . . . . C 35 5.466401 0.96257 . . ENSG00000112249 ENST00000369162 T 0.15372 2.43 6.17 6.17 0.99709 DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1); 0.000000 0.85682 D 0.000000 T 0.58148 0.2102 H 0.98256 4.185 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.73282 -0.4032 10 0.87932 D 0 . 20.8794 0.99867 0.0:1.0:0.0:0.0 . 1472 Q8N3C0 HELC1_HUMAN Q 1472 ENSP00000358159:R1472Q ENSP00000358159:R1472Q R - 2 0 ASCC3 101182545 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.818000 0.86416 2.941000 0.99782 0.655000 0.94253 CGA ASCC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041632.2 10.520426 0 2 54 0 0 1 0 NM_006828 6 15.917413 37 0.139535 EDN1 1906 broad.mit.edu hg19 6 12292598 12292598 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:12292598C>T ENST00000379375.5 + 2 356 c.89C>T c.(88-90)gCg>gTg p.A30V NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 30 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) GAGCTCAGCGCGGTGGGTGAG 0.612 0 76.0 83.0 81.0 6 12292598 2202 4300 6502 SO:0001583 missense S56805 CCDS4522.1 6p24.1 2014-03-19 ENSG00000078401 ENSG00000078401 """Endogenous ligands""" 3176 protein-coding gene gene with protein product 131240 Standard NM_001168319 Approved ET1 uc003nae.4 P05305 OTTHUMG00000014266 ENST00000379375.5:c.89C>T 6.37:g.12292598C>T ENSP00000368683:p.Ala30Val Q96DA1 ENST00000379375.5 37 CCDS4522.1 . . . . . . . . . . c 16.04 3.009757 0.54361 . . ENSG00000078401 ENST00000379375 D 0.84589 -1.87 5.99 3.31 0.37934 . 0.739422 0.13381 N 0.392146 T 0.51517 0.1679 N 0.08118 0 0.09310 N 1 B;B 0.18863 0.031;0.031 B;B 0.16289 0.015;0.015 T 0.44787 -0.9305 10 0.35671 T 0.21 -16.9053 9.9686 0.41741 0.0:0.793:0.0:0.207 . 30;30 Q6FH53;P05305 .;EDN1_HUMAN V 30 ENSP00000368683:A30V ENSP00000368683:A30V A + 2 0 EDN1 12400584 0.026000 0.19158 0.005000 0.12908 0.069000 0.16628 2.895000 0.48648 0.450000 0.26774 -0.119000 0.15052 GCG EDN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039872.1 -14.314068 0 -17 138 0 0 1 0 NM_001955 5 9.684012 104 0.045872 KIAA1919 91749 broad.mit.edu hg19 6 111583554 111583554 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:111583554G>A ENST00000368847.4 + 2 475 c.122G>A c.(121-123)cGt>cAt p.R41H NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 41 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) TTTGTGGGTCGTGCCTTGGGA 0.383 0 371.0 349.0 357.0 6 111583554 2203 4300 6503 SO:0001583 missense BC036115 CCDS5090.1 6q22 2013-10-02 ENSG00000173214 ENSG00000173214 21053 protein-coding gene gene with protein product Standard NM_153369 Approved MGC33953, MFSD4B uc003puv.4 Q5TF39 OTTHUMG00000015372 ENST00000368847.4:c.122G>A 6.37:g.111583554G>A ENSP00000357840:p.Arg41His A8K9M0|Q8IYB6|Q96PW9|Q9P0D6 ENST00000368847.4 37 CCDS5090.1 . . . . . . . . . . G 35 5.535304 0.96460 . . ENSG00000173214 ENST00000368847 T 0.57436 0.4 6.04 6.04 0.98038 Major facilitator superfamily domain, general substrate transporter (1); 0.000000 0.85682 D 0.000000 T 0.72471 0.3464 M 0.80508 2.5 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.73414 -0.3990 10 0.66056 D 0.02 -13.4087 20.1743 0.98175 0.0:0.0:1.0:0.0 . 41 Q5TF39 NAGT1_HUMAN H 41 ENSP00000357840:R41H ENSP00000357840:R41H R + 2 0 KIAA1919 111690247 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 8.546000 0.90661 2.873000 0.98535 0.561000 0.74099 CGT KIAA1919-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041827.1 159.145812 0 -27 208 0 0 1 0 NM_153369 56 164.720642 123 0.312849 FAT2 2196 broad.mit.edu hg19 5 150891882 150891882 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:150891882C>T ENST00000261800.5 - 20 11761 c.11749G>A c.(11749-11751)Gtg>Atg p.V3917M CTC-251D13.1_ENST00000606930.1_RNA NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3917 Laminin G-like. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGTTGACCACGACAGCATCC 0.592 0 78.0 75.0 76.0 5 150891882 2203 4300 6503 SO:0001583 missense AF231022 CCDS4317.1 5q33.1 2014-07-21 2013-05-31 ENSG00000086570 ENSG00000086570 """Cadherins / Cadherin-related""" 3596 protein-coding gene gene with protein product """cadherin-related family member 9""" 604269 """FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)""" 9693030 Standard NM_001447 Approved MEGF1, CDHF8, HFAT2, CDHR9 uc003lue.4 Q9NYQ8 OTTHUMG00000130126 ENST00000261800.5:c.11749G>A 5.37:g.150891882C>T ENSP00000261800:p.Val3917Met O75091|Q9NSR7 ENST00000261800.5 37 CCDS4317.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 3.155|3.155 -0.173462|-0.173462 0.06421|0.06421 .|. .|. ENSG00000086570|ENSG00000086570 ENST00000520200|ENST00000261800 .|T .|0.78707 .|-1.2 5.16|5.16 -5.74|-5.74 0.02391|0.02391 .|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); .|1.420810 .|0.04654 .|N .|0.407616 T|T 0.62502|0.62502 0.2433|0.2433 N|N 0.25647|0.25647 0.755|0.755 0.09310|0.09310 N|N 1|1 .|B;B .|0.19445 .|0.036;0.019 .|B;B .|0.19148 .|0.024;0.002 T|T 0.48658|0.48658 -0.9016|-0.9016 5|10 .|0.33141 .|T .|0.24 .|. 8.2577|8.2577 0.31766|0.31766 0.1709:0.3172:0.0:0.5119|0.1709:0.3172:0.0:0.5119 .|. .|3917;1022 .|Q9NYQ8;E9PDJ8 .|FAT2_HUMAN;. H|M 689|3917 .|ENSP00000261800:V3917M .|ENSP00000261800:V3917M R|V -|- 2|1 0|0 FAT2|FAT2 150872075|150872075 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.311000|0.311000 0.27955|0.27955 -1.725000|-1.725000 0.01863|0.01863 -1.472000|-1.472000 0.01883|0.01883 -2.636000|-2.636000 0.00152|0.00152 CGT|GTG FAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252434.1 4.775173 0 -7 58 0 0 1 0 NM_001447 4 9.662167 30 0.117647 XRCC2 7516 broad.mit.edu hg19 7 152345797 152345797 + Missense_Mutation SNP C C T rs149186933 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:152345797C>T ENST00000359321.1 - 3 858 c.773G>A c.(772-774)cGt>cAt p.R258H XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 258 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) TTTTAAACAACGTGAAACTAA 0.333 1 85.0 90.0 89.0 7 152345797 2203 4300 6503 SO:0001583 missense Y08837 CCDS5933.1 7q36 2006-05-04 ENSG00000196584 ENSG00000196584 12829 protein-coding gene gene with protein product """RAD51-like""" 600375 7607692, 10422536 Standard NM_005431 Approved uc003wld.3 O43543 OTTHUMG00000151470 ENST00000359321.1:c.773G>A 7.37:g.152345797C>T ENSP00000352271:p.Arg258His B2R925 ENST00000359321.1 37 CCDS5933.1 . . . . . . . . . . C 6.232 0.410989 0.11812 0.0 1.16E-4 ENSG00000196584 ENST00000359321 T 0.66099 -0.19 5.29 1.47 0.22746 . 0.634660 0.16755 N 0.200854 T 0.53334 0.1790 L 0.57536 1.79 0.24281 N 0.995205 B 0.12630 0.006 B 0.06405 0.002 T 0.41770 -0.9490 10 0.28530 T 0.3 -13.3511 9.4934 0.38974 0.0:0.7092:0.0:0.2908 . 258 O43543 XRCC2_HUMAN H 258 ENSP00000352271:R258H ENSP00000352271:R258H R - 2 0 XRCC2 151976730 0.978000 0.34361 0.943000 0.38184 0.129000 0.20672 0.387000 0.20718 0.248000 0.21435 -0.262000 0.10625 CGT XRCC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322783.1 -1.442304 0 -15 77 0 0 1 0 NM_005431 4 7.826355 47 0.078431 WDR27 253769 broad.mit.edu hg19 6 170068142 170068142 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:170068142G>A ENST00000333572.6 - 5 1115 c.596C>T c.(595-597)gCg>gTg p.A199V WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000448612.1_Missense_Mutation_p.A199V A2RRH5 WDR27_HUMAN WD repeat domain 27 169 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GAACTCCACCGCAGTCACCGG 0.632 0 66.0 78.0 74.0 6 170068142 2072 4197 6269 SO:0001583 missense AK131435 CCDS47520.1, CCDS47520.2, CCDS56459.1 6q27 2013-01-09 2003-06-18 ENSG00000184465 ENSG00000184465 """WD repeat domain containing""" 21248 protein-coding gene gene with protein product Standard NM_182552 Approved MGC43690 uc003qwx.3 A2RRH5 OTTHUMG00000016061 ENST00000448612.1:c.596C>T 6.37:g.170068142G>A ENSP00000416289:p.Ala199Val A5PLM8|C9JGV0|Q5T066 ENST00000448612.1 37 CCDS47520.2 . . . . . . . . . . G 25.7 4.660163 0.88154 0.0 1.19E-4 ENSG00000184465 ENST00000448612;ENST00000333572 T;T 0.61859 0.07;0.07 5.24 5.24 0.73138 . 0.080255 0.48767 D 0.000172 T 0.67392 0.2888 L 0.59436 1.845 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.69307 0.95;0.963 T 0.70726 -0.4793 10 0.72032 D 0.01 -20.5923 17.5919 0.87999 0.0:0.0:1.0:0.0 . 199;199 F2Z2U5;C9JGV0 .;. V 199 ENSP00000416289:A199V;ENSP00000330265:A199V ENSP00000330265:A199V A - 2 0 WDR27 169810067 0.988000 0.35896 0.057000 0.19452 0.910000 0.53928 4.845000 0.62853 2.452000 0.82932 0.650000 0.86243 GCG WDR27-010 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000407334.1 18.012097 0 2 30 0 0 1 0 NM_182552 7 19.602425 21 0.250000 KPNB1 3837 broad.mit.edu hg19 17 45742469 45742469 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:45742469C>T ENST00000290158.4 + 9 1351 c.944C>T c.(943-945)gCg>gTg p.A315V KPNB1_ENST00000537679.1_Intron|KPNB1_ENST00000540627.1_Missense_Mutation_p.A170V|KPNB1_ENST00000535458.2_Missense_Mutation_p.A170V NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 315 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 AAGTTTTATGCGAAGGGAGCA 0.458 0 99.0 91.0 94.0 17 45742469 2203 4300 6503 SO:0001583 missense L39793 CCDS11513.1, CCDS62228.1 17q21.32 2013-02-14 ENSG00000108424 ENSG00000108424 """Importins"", ""Armadillo repeat containing""" 6400 protein-coding gene gene with protein product """importin 1""" 602738 7615630, 7627554 Standard NM_002265 Approved NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1 uc002ilt.2 Q14974 OTTHUMG00000036957 ENST00000540627.1:c.509C>T 17.37:g.45742469C>T ENSP00000438964:p.Ala170Val B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27 ENST00000540627.1 37 . . . . . . . . . . C 28.1 4.887823 0.91814 . . ENSG00000108424 ENST00000535458;ENST00000290158;ENST00000540627 T;T;T 0.68331 -0.32;-0.32;-0.32 5.98 5.98 0.97165 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.65502 0.2697 M 0.62154 1.92 0.40003 D 0.975197 D 0.64830 0.994 B 0.39531 0.302 T 0.68938 -0.5277 9 0.36615 T 0.2 -4.2011 20.4561 0.99145 0.0:1.0:0.0:0.0 . 315 Q14974 IMB1_HUMAN V 170;315;170 ENSP00000438253:A170V;ENSP00000290158:A315V;ENSP00000438964:A170V ENSP00000290158:A315V A + 2 0 KPNB1 43097468 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.818000 0.86416 2.847000 0.97988 0.591000 0.81541 GCG KPNB1-003 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding protein_coding OTTHUMT00000441351.1 8.685645 0 5 44 0 0 1 0 NM_002265 4 10.993975 19 0.173913 MSR1 0 broad.mit.edu hg19 8 16012621 16012621 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:16012621G>A ENST00000350896.3 - 6 1047 c.850C>T c.(850-852)Cga>Tga p.R284* MSR1_ENST00000262101.5_Nonsense_Mutation_p.R284*|MSR1_ENST00000536385.1_Nonsense_Mutation_p.R58*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.R284*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.R284*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R302* NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 284 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GTGGGACCTCGATCTCCTTTT 0.393 0 69.0 69.0 69.0 8 16012621 2203 4300 6503 SO:0001587 stop_gained D13263 CCDS5995.1, CCDS5996.1, CCDS5997.1 8p22 2006-02-22 ENSG00000038945 ENSG00000038945 """CD molecules""" 7376 protein-coding gene gene with protein product 153622 2251254 Standard NM_138715 Approved SCARA1, CD204 uc003wwz.3 P21757 OTTHUMG00000094809 ENST00000445506.2:c.904C>T 8.37:g.16012621G>A ENSP00000405453:p.Arg302* D3DSP3|O60505|P21759|Q45F10 ENST00000445506.2 37 . . . . . . . . . . G 28.1 4.894614 0.91962 . . ENSG00000038945 ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385 . . . 4.87 0.814 0.18756 . 0.329552 0.26032 N 0.026754 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 11.5783 0.50877 0.0:0.0:0.5001:0.4999 . . . . X 284;284;302;284;74;284;58 . ENSP00000262101:R284X R - 1 2 MSR1 16056992 0.409000 0.25368 0.953000 0.39169 0.259000 0.26198 0.384000 0.20668 0.379000 0.24794 -0.284000 0.09977 CGA MSR1-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000375985.1 -0.842896 0 9 58 0 0 1 0 4 9.218738 50 0.074074 PPL 5493 broad.mit.edu hg19 16 4933601 4933601 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:4933601G>A ENST00000345988.2 - 22 5144 c.5055C>T c.(5053-5055)ttC>ttT p.F1685F PPL_ENST00000590782.2_Silent_p.F1683F NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1685 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGAGTTTCACGAACATGTTCC 0.592 0 73.0 66.0 69.0 16 4933601 2197 4300 6497 SO:0001819 synonymous_variant AF013717 CCDS10526.1 16p13.3 2008-02-05 ENSG00000118898 ENSG00000118898 9273 protein-coding gene gene with protein product 602871 9570964, 9521878 Standard NM_002705 Approved uc002cyd.1 O60437 OTTHUMG00000129528 ENST00000345988.2:c.5055C>T 16.37:g.4933601G>A O60314|O60454|Q14C98 ENST00000345988.2 37 CCDS10526.1 PPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251715.1 50.000251 0 3 47 0 0 1 0 NM_002705 16 50.007247 15 0.516129 GIP 2695 broad.mit.edu hg19 17 47041771 47041771 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:47041771G>A ENST00000357424.2 - 3 258 c.158C>T c.(157-159)gCg>gTg p.A53V NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide 53 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity lung(2)|skin(1)|stomach(1) 4 AGTCCCTTCCGCGTACCTGGG 0.552 0 150.0 129.0 136.0 17 47041771 2203 4300 6503 SO:0001583 missense CCDS11542.1 17q21.3-q22 2013-02-26 ENSG00000159224 ENSG00000159224 """Endogenous ligands""" 4270 protein-coding gene gene with protein product """glucose-dependent insulinotropic polypeptide""" 137240 2739653 Standard NM_004123 Approved uc002iol.1 P09681 OTTHUMG00000161171 ENST00000357424.2:c.158C>T 17.37:g.47041771G>A ENSP00000350005:p.Ala53Val Q4VB42|Q6NTD3 ENST00000357424.2 37 CCDS11542.1 . . . . . . . . . . G 29.9 5.048167 0.93740 0.0 1.16E-4 ENSG00000159224 ENST00000357424 T 0.55234 0.53 5.32 5.32 0.75619 Glucagon/GIP/secretin/VIP (3); 0.109714 0.41097 D 0.000945 T 0.72479 0.3465 M 0.78344 2.41 0.36540 D 0.871212 D 0.89917 1.0 D 0.91635 0.999 T 0.79205 -0.1899 10 0.72032 D 0.01 -13.4303 14.357 0.66745 0.0:0.0:1.0:0.0 . 53 P09681 GIP_HUMAN V 53 ENSP00000350005:A53V ENSP00000350005:A53V A - 2 0 GIP 44396770 0.714000 0.27936 0.596000 0.28811 0.500000 0.33767 4.738000 0.62073 2.769000 0.95229 0.563000 0.77884 GCG GIP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364044.1 34.391749 0 -20 87 0 0 1 0 NM_004123 15 38.341159 48 0.238095 IL25 0 broad.mit.edu hg19 14 23845042 23845042 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:23845042C>T ENST00000329715.2 + 2 745 c.487C>T c.(487-489)Cgt>Tgt p.R163C IL25_ENST00000397242.2_Missense_Mutation_p.R147C NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 163 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) CAGGCTGTACCGTGTTTCCTT 0.612 0 157.0 142.0 147.0 14 23845042 2203 4300 6503 SO:0001583 missense AF305200 CCDS9597.1, CCDS45086.1 14q11.2 2008-01-07 2006-05-17 2006-05-17 ENSG00000166090 ENSG00000166090 """Interleukins and interleukin receptors""" 13765 protein-coding gene gene with protein product 605658 """interleukin 17E""" IL17E 11058597, 11754819 Standard NM_172314 Approved IL-25, IL-17E uc001wjq.3 Q9H293 OTTHUMG00000028749 ENST00000329715.2:c.487C>T 14.37:g.23845042C>T ENSP00000328111:p.Arg163Cys Q2M3F0|Q8IZV3|Q8WXB0 ENST00000329715.2 37 CCDS9597.1 . . . . . . . . . . C 20.9 4.062144 0.76187 . . ENSG00000166090 ENST00000397242;ENST00000329715 T;T 0.56275 0.47;0.47 4.58 4.58 0.56647 . 0.391738 0.22245 N 0.062631 T 0.61464 0.2349 L 0.54323 1.7 0.47153 D 0.999339 D;D 0.76494 0.999;0.998 P;P 0.57679 0.825;0.742 T 0.63093 -0.6714 10 0.54805 T 0.06 -10.6501 12.7393 0.57241 0.0:1.0:0.0:0.0 . 163;147 Q9H293;Q9H293-2 IL25_HUMAN;. C 147;163 ENSP00000380417:R147C;ENSP00000328111:R163C ENSP00000328111:R163C R + 1 0 IL25 22914882 0.987000 0.35691 0.980000 0.43619 0.983000 0.72400 3.627000 0.54252 2.405000 0.81733 0.561000 0.74099 CGT IL25-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000071789.2 96.153702 0 -9 86 0 0 1 0 30 96.153702 30 0.500000 SMARCA4 6597 broad.mit.edu hg19 19 11132513 11132513 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:11132513C>T ENST00000358026.2 + 19 3013 c.2729C>T c.(2728-2730)aCg>aTg p.T910M SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 910 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTGCTGCTGACGGGCACACCG 0.592 7 88.0 68.0 75.0 19 11132513 2203 4300 6503 SO:0001583 missense D26156 CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1 19p13.3 2014-09-17 2006-11-09 ENSG00000127616 ENSG00000127616 11100 protein-coding gene gene with protein product """SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4""" 603254 SNF2L4 8208605 Standard NM_003072 Approved hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786 uc010dxo.3 P51532 OTTHUMG00000169272 ENST00000541122.2:c.2729C>T 19.37:g.11132513C>T ENSP00000445036:p.Thr910Met B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3 ENST00000541122.2 37 CCDS45972.1 . . . . . . . . . . C 16.22 3.061387 0.55432 . . ENSG00000127616 ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806 D;D;D;D;D;D;D 0.97303 -4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33 4.51 4.51 0.55191 DEAD-like helicase (2);SNF2-related (1); 0.000000 0.85682 D 0.000000 D 0.99115 0.9695 H 0.98507 4.25 0.80722 D 1 D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;D 0.97110 0.998;0.998;0.998;0.996;0.994;1.0;0.998;0.998 D 0.98869 1.0765 10 0.87932 D 0 -34.7546 16.1519 0.81629 0.0:1.0:0.0:0.0 . 910;910;910;910;910;130;910;910 B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532 .;.;.;.;.;.;.;SMCA4_HUMAN M 910;910;974;910;910;910;910;910 ENSP00000395654:T910M;ENSP00000350720:T910M;ENSP00000343896:T910M;ENSP00000445036:T910M;ENSP00000392837:T910M;ENSP00000397783:T910M;ENSP00000414727:T910M ENSP00000343896:T910M T + 2 0 SMARCA4 10993513 1.000000 0.71417 0.968000 0.41197 0.009000 0.06853 7.651000 0.83577 2.348000 0.79779 0.655000 0.94253 ACG SMARCA4-005 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000403237.2 47.058297 0 2 40 0 0 1 0 NM_003072 14 48.022083 5 0.736842 ZNF503 84858 broad.mit.edu hg19 10 77158605 77158605 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:77158605C>T ENST00000372524.4 - 2 2329 c.1843G>A c.(1843-1845)Gcc>Acc p.A615T ZNF503_ENST00000535216.1_Missense_Mutation_p.A615T|RP11-399K21.11_ENST00000418818.2_lincRNA NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GGCACGGGGGCGCCAGGCGTG 0.726 0 8.0 10.0 10.0 10 77158605 2175 4252 6427 SO:0001583 missense AK127647 CCDS7350.1 10q22.3 2011-02-09 ENSG00000165655 ENSG00000165655 """Zinc fingers, C2H2-type""" 23589 protein-coding gene gene with protein product 613902 12477932 Standard NM_032772 Approved FLJ45745, MGC2555 uc001jxg.3 Q96F45 OTTHUMG00000018526 ENST00000372524.4:c.1843G>A 10.37:g.77158605C>T ENSP00000361602:p.Ala615Thr Q8NAC5|Q96E25|Q96IJ0 ENST00000372524.4 37 CCDS7350.1 . . . . . . . . . . C 27.8 4.862163 0.91511 . . ENSG00000165655 ENST00000372524;ENST00000535216;ENST00000372516 T;T 0.51071 0.72;0.72 4.6 4.6 0.57074 . 0.057511 0.64402 D 0.000002 T 0.41465 0.1160 L 0.44542 1.39 0.80722 D 1 D 0.57899 0.981 B 0.40066 0.318 T 0.43605 -0.9381 10 0.40728 T 0.16 -12.78 17.6259 0.88093 0.0:1.0:0.0:0.0 . 615 Q96F45 ZN503_HUMAN T 615;615;578 ENSP00000361602:A615T;ENSP00000438988:A615T ENSP00000361594:A578T A - 1 0 ZNF503 76828611 1.000000 0.71417 0.998000 0.56505 0.993000 0.82548 4.779000 0.62375 2.376000 0.81061 0.643000 0.83706 GCC ZNF503-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048826.1 10.100975 0 2 9 0 0 1 0 NM_032772 4 10.279114 7 0.363636 OBSCN 84033 broad.mit.edu hg19 1 228505446 228505446 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:228505446C>T ENST00000570156.2 + 63 16788 c.16714C>T c.(16714-16716)Cgg>Tgg p.R5572W OBSCN_ENST00000422127.1_Missense_Mutation_p.R4615W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1734W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2249W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4615W NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4615 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCAGACAGTGCGGCTTGGTGA 0.672 0 47.0 54.0 51.0 1 228505446 1980 4022 6002 SO:0001583 missense AJ002535 CCDS1570.2, CCDS58065.1, CCDS59204.1 1q42 2014-09-17 ENSG00000154358 ENSG00000154358 """Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 15719 protein-coding gene gene with protein product 608616 11448995, 11814696 Standard NM_001098623 Approved KIAA1556, UNC89, KIAA1639, ARHGEF30 uc001hsq.2 Q5VST9 OTTHUMG00000039772 ENST00000570156.2:c.16714C>T 1.37:g.228505446C>T ENSP00000455507:p.Arg5572Trp Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6 ENST00000570156.2 37 CCDS59204.1 . . . . . . . . . . c 14.63 2.592383 0.46214 . . ENSG00000154358 ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709 T;T;T;T 0.60171 0.21;0.21;0.21;0.21 4.51 -2.93 0.05598 Fibronectin, type III (1);Immunoglobulin-like fold (1); 0.955998 0.08623 N 0.918149 T 0.51075 0.1653 N 0.22421 0.69 0.09310 N 0.99999 D;D 0.65815 0.991;0.995 B;P 0.50049 0.425;0.629 T 0.56050 -0.8043 10 0.66056 D 0.02 . 14.1853 0.65601 0.1629:0.7445:0.0:0.0926 . 4615;4615 Q5VST9;Q5VST9-3 OBSCN_HUMAN;. W 4615;4615;2249;1734 ENSP00000284548:R4615W;ENSP00000409493:R4615W;ENSP00000355668:R2249W;ENSP00000355670:R1734W ENSP00000284548:R4615W R + 1 2 OBSCN 226572069 0.922000 0.31269 0.001000 0.08648 0.163000 0.22366 0.812000 0.27211 -0.757000 0.04697 0.479000 0.44913 CGG OBSCN-011 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000421354.3 74.495366 0 -25 66 0 0 1 0 NM_052843 24 74.640133 30 0.444444 DEPDC5 9681 broad.mit.edu hg19 22 32239098 32239098 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:32239098C>T ENST00000400246.1 + 28 2675 c.2533C>T c.(2533-2535)Cgc>Tgc p.R845C DEPDC5_ENST00000400248.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R767C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R845C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R767C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R836C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R845C O75140 DEPD5_HUMAN DEP domain containing 5 836 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GTCCCGAAACCGCCCTGAGGA 0.443 0 90.0 83.0 85.0 22 32239098 1963 4156 6119 SO:0001583 missense AB014545 CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1 22q12.3 2013-04-29 ENSG00000100150 ENSG00000100150 18423 protein-coding gene gene with protein product 614191 23542697, 23542701 Standard NM_001242896 Approved KIAA0645, DEP.5 uc011alu.2 O75140 OTTHUMG00000030926 ENST00000382112.3:c.2506C>T 22.37:g.32239098C>T ENSP00000371546:p.Arg836Cys A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13 ENST00000382112.3 37 CCDS46692.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 19.06|19.06 3.754560|3.754560 0.69648|0.69648 .|. .|. ENSG00000100150|ENSG00000100150 ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248 .|T;T;T;T;T;T;T;T .|0.22945 .|1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93 5.68|5.68 4.64|4.64 0.57946|0.57946 .|. .|0.060343 .|0.64402 .|D .|0.000002 T|T 0.42988|0.42988 0.1227|0.1227 L|L 0.53249|0.53249 1.67|1.67 0.80722|0.80722 D|D 1|1 .|D;D;D;D;D;D .|0.89917 .|1.0;1.0;1.0;1.0;0.999;0.999 .|D;P;P;P;P;P .|0.79108 .|0.992;0.891;0.891;0.897;0.719;0.791 T|T 0.28522|0.28522 -1.0041|-1.0041 5|10 .|0.54805 .|T .|0.06 .|. 10.0209|10.0209 0.42041|0.42041 0.2636:0.6052:0.1312:0.0|0.2636:0.6052:0.1312:0.0 .|. .|166;845;767;845;836;836 .|B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140 .|.;.;.;.;.;DEPD5_HUMAN L|C 242|767;845;836;767;845;767;836;845;836 .|ENSP00000440210:R767C;ENSP00000266091:R845C;ENSP00000383108:R836C;ENSP00000383105:R845C;ENSP00000371539:R767C;ENSP00000371546:R836C;ENSP00000371545:R845C;ENSP00000383107:R836C .|ENSP00000266091:R845C P|R +|+ 2|1 0|0 DEPDC5|DEPDC5 30569098|30569098 0.989000|0.989000 0.36119|0.36119 1.000000|1.000000 0.80357|0.80357 0.967000|0.967000 0.64934|0.64934 2.022000|2.022000 0.41030|0.41030 1.366000|1.366000 0.46076|0.46076 0.655000|0.655000 0.94253|0.94253 CCG|CGC DEPDC5-006 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000129087.1 10.518738 0 7 60 0 0 1 0 NM_014662 6 16.389938 39 0.133333 RGAG4 340526 broad.mit.edu hg19 X 71349781 71349781 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:71349781C>T ENST00000545866.1 - 1 1977 c.1610G>A c.(1609-1611)cGt>cAt p.R537H RGAG4_ENST00000609883.1_Missense_Mutation_p.R537H|NHSL2_ENST00000540800.1_Intron NM_001024455.3 NP_001019626.1 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 537 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) TTGTCCTAAACGACCTGTGCG 0.587 0 46.0 49.0 48.0 X 71349781 1941 4120 6061 SO:0001583 missense AB082532 CCDS55446.1 Xq13.1 2008-02-05 ENSG00000242732 ENSG00000242732 29430 protein-coding gene gene with protein product 12056414, 15716091, 16093683 Standard NM_001024455 Approved KIAA2001, Mar5, Mart5 uc004eaj.2 Q5HYW3 OTTHUMG00000021808 ENST00000545866.1:c.1610G>A X.37:g.71349781C>T ENSP00000441366:p.Arg537His A7E2W7|Q8NCM4|Q9NPX1 ENST00000545866.1 37 CCDS55446.1 . . . . . . . . . . C 8.948 0.967446 0.18659 0.001208 0.0 ENSG00000242732 ENST00000545866;ENST00000479991 T;T 0.17213 2.29;2.29 4.11 3.25 0.37280 . . . . . T 0.08179 0.0204 N 0.19112 0.55 0.09310 N 0.999999 P 0.47106 0.89 B 0.33568 0.166 T 0.18335 -1.0340 8 . . . -4.5822 6.6381 0.22895 0.0:0.8701:0.0:0.1299 . 537 Q5HYW3 RGAG4_HUMAN H 537 ENSP00000441366:R537H;ENSP00000418667:R537H . R - 2 0 RGAG4 71266506 0.874000 0.30092 0.303000 0.25071 0.041000 0.13682 0.315000 0.19451 1.085000 0.41206 0.513000 0.50165 CGT RGAG4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057171.1 4.978184 0 -9 34 0 0 1 0 NM_001024455 4 9.133811 27 0.129032 NCR3 259197 broad.mit.edu hg19 6 31557652 31557652 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:31557652G>A ENST00000376073.4 - 2 558 c.295C>T c.(295-297)Cga>Tga p.R99* NCR3_ENST00000376072.3_Nonsense_Mutation_p.R99*|NCR3_ENST00000376071.4_Nonsense_Mutation_p.R74*|NCR3_ENST00000340027.5_Nonsense_Mutation_p.R99*|NCR3_ENST00000491161.1_5'UTR NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 99 Ig-like. cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 TCATGGCCTCGCACGTCCCGG 0.622 0 139.0 128.0 132.0 6 31557652 1511 2709 4220 SO:0001587 stop_gained AB055881 CCDS34397.1, CCDS47401.1, CCDS47402.1 6p21.3 2013-01-11 2002-11-13 2002-11-15 ENSG00000204475 ENSG00000204475 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing""" 19077 protein-coding gene gene with protein product 611550 """lymphocyte antigen 117""" LY117 8824804, 11782277 Standard NM_001145466 Approved 1C7, NKp30, CD337 uc003nuv.2 O14931 OTTHUMG00000031123 ENST00000340027.5:c.295C>T 6.37:g.31557652G>A ENSP00000342156:p.Arg99* B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3 ENST00000340027.5 37 CCDS34397.1 . . . . . . . . . . G 18.46 3.628979 0.67015 . . ENSG00000204475 ENST00000340027;ENST00000376073;ENST00000376072;ENST00000376071 . . . 4.01 0.804 0.18697 . 1.405150 0.04900 N 0.451210 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.05721 T 0.95 8.3211 2.3291 0.04231 0.112:0.1902:0.5027:0.1951 . . . . X 99;99;99;74 . ENSP00000342156:R99X R - 1 2 NCR3 31665631 0.000000 0.05858 0.000000 0.03702 0.265000 0.26407 -0.031000 0.12287 0.403000 0.25479 0.585000 0.79938 CGA NCR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000076210.2 106.346677 0 -11 99 0 0 1 0 34 106.374175 37 0.478873 UTRN 7402 broad.mit.edu hg19 6 144814587 144814587 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:144814587G>A ENST00000367545.3 + 32 4588 c.4588G>A c.(4588-4590)Gca>Aca p.A1530T NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1530 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TGACCTGGGCGCACAGGTGAG 0.468 0 72.0 62.0 65.0 6 144814587 2203 4300 6503 SO:0001583 missense AK023675 CCDS34547.1 6q24 2008-02-05 2006-12-13 ENSG00000152818 ENSG00000152818 12635 protein-coding gene gene with protein product 128240 """utrophin (homologous to dystrophin)""" DMDL 1426262 Standard NM_007124 Approved DRP, DRP1 uc003qkt.3 P46939 OTTHUMG00000015746 ENST00000367545.3:c.4588G>A 6.37:g.144814587G>A ENSP00000356515:p.Ala1530Thr Q5SYY1|Q5SZ57|Q9UJ40 ENST00000367545.3 37 CCDS34547.1 . . . . . . . . . . G 25.2 4.617554 0.87359 . . ENSG00000152818 ENST00000367545 T 0.35421 1.31 5.32 5.32 0.75619 . 0.000000 0.52532 D 0.000080 T 0.49932 0.1586 M 0.64997 1.995 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 T 0.32955 -0.9887 10 0.29301 T 0.29 . 19.0104 0.92871 0.0:0.0:1.0:0.0 . 1530 P46939 UTRO_HUMAN T 1530 ENSP00000356515:A1530T ENSP00000356515:A1530T A + 1 0 UTRN 144856280 1.000000 0.71417 0.937000 0.37676 0.740000 0.42216 6.605000 0.74155 2.487000 0.83934 0.655000 0.94253 GCA UTRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042551.1 60.922463 0 -2 43 0 0 1 0 19 61.712194 9 0.678571 MAP3K5 4217 broad.mit.edu hg19 6 136888863 136888863 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:136888863C>T ENST00000359015.4 - 26 4027 c.3667G>A c.(3667-3669)Gtg>Atg p.V1223M MAP3K5_ENST00000355845.4_Missense_Mutation_p.V470M NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1223 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AGCGTGCTCACGCCTGAGGTA 0.468 0 138.0 105.0 116.0 6 136888863 2203 4300 6503 SO:0001583 missense U67156 CCDS5179.1 6q22.33 2011-06-09 ENSG00000197442 ENSG00000197442 """Mitogen-activated protein kinase cascade / Kinase kinase kinases""" 6857 protein-coding gene gene with protein product """apoptosis signal regulating kinase 1""" 602448 MEKK5 9465908 Standard NM_005923 Approved MAPKKK5, ASK1 uc003qhc.3 Q99683 OTTHUMG00000015647 ENST00000359015.4:c.3667G>A 6.37:g.136888863C>T ENSP00000351908:p.Val1223Met A6NIA0|B4DGB2|Q5THN3|Q99461 ENST00000359015.4 37 CCDS5179.1 . . . . . . . . . . C 22.8 4.333670 0.81801 . . ENSG00000197442 ENST00000359015;ENST00000355845 T;T 0.73363 -0.58;-0.74 5.39 5.39 0.77823 . 0.000000 0.85682 D 0.000000 D 0.82291 0.5005 M 0.68952 2.095 0.58432 D 0.999999 D;D 0.89917 0.996;1.0 P;D 0.80764 0.818;0.994 T 0.79841 -0.1633 10 0.35671 T 0.21 . 19.1483 0.93477 0.0:1.0:0.0:0.0 . 1304;1223 Q59GL6;Q99683 .;M3K5_HUMAN M 1223;470 ENSP00000351908:V1223M;ENSP00000348104:V470M ENSP00000348104:V470M V - 1 0 MAP3K5 136930556 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.263000 0.78421 2.513000 0.84729 0.561000 0.74099 GTG MAP3K5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042383.1 8.154027 0 -3 40 0 0 1 0 5 11.765302 27 0.156250 IGHV3-16 0 broad.mit.edu hg19 14 106622014 106622014 + RNA SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:106622014C>T ENST00000390604.2 - 0 304 CCACATAGTGCGTCCTACTGC 0.537 0 190.0 171.0 177.0 14 106622014 1934 4141 6075 M99655 14q32.33 2012-02-08 2008-08-22 ENSG00000211944 ENSG00000211944 """Immunoglobulins / IGH locus""" 5583 other immunoglobulin gene """immunoglobulin heavy variable 3-16""" Standard NG_001019 Approved OTTHUMG00000152273 14.37:g.106622014C>T ENST00000390604.2 37 IGHV3-16-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene IG_V_gene OTTHUMT00000325661.1 221.001851 0 -147 106 0 0 1 0 NG_001019 63 227.835675 3 0.954545 CSMD1 64478 broad.mit.edu hg19 8 3263583 3263583 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:3263583G>A ENST00000602557.1 - 16 2790 c.2235C>T c.(2233-2235)aaC>aaT p.N745N CSMD1_ENST00000400186.3_Silent_p.N745N|CSMD1_ENST00000539096.1_Silent_p.N744N|CSMD1_ENST00000602723.1_Silent_p.N745N|CSMD1_ENST00000542608.1_Silent_p.N744N|CSMD1_ENST00000520002.1_Silent_p.N745N|CSMD1_ENST00000537824.1_Silent_p.N744N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 745 Sushi 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCAGACCACGTTCCCGTCTT 0.552 0 60.0 61.0 60.0 8 3263583 1982 4173 6155 SO:0001819 synonymous_variant 8p23.2 2012-04-17 ENSG00000183117 ENSG00000183117 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 14026 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 24""" 608397 Standard NM_033225 Approved KIAA1890, PPP1R24 uc022aqr.1 Q96PZ7 OTTHUMG00000163605 ENST00000520002.1:c.2235C>T 8.37:g.3263583G>A Q0H0J5|Q96QU9|Q96RM4 ENST00000520002.1 37 . . . . . . . . . . G 9.151 1.016301 0.19355 . . ENSG00000183117 ENST00000335551 . . . 5.36 -7.22 0.01485 . . . . . T 0.62368 0.2422 . . . 0.80722 D 1 . . . . . . T 0.66575 -0.5889 4 . . . . 15.6057 0.76668 0.4359:0.0:0.5641:0.0 . . . . C 225 . . R - 1 0 CSMD1 3250990 0.006000 0.16342 0.763000 0.31416 0.837000 0.47467 -0.625000 0.05534 -1.745000 0.01337 -0.469000 0.05056 CGT CSMD1-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000374500.2 35.992317 0 -6 59 0 0 1 0 NM_033225 12 36.431209 20 0.375000 DOCK10 55619 broad.mit.edu hg19 2 225688296 225688296 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:225688296G>A ENST00000409592.3 - 28 3200 c.3087C>T c.(3085-3087)tcC>tcT p.S1029S DOCK10_ENST00000258390.7_Silent_p.S1035S Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1035 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TCACATGGTCGGATAGGACCA 0.418 1 146.0 137.0 140.0 2 225688296 1896 4119 6015 SO:0001819 synonymous_variant AB014594 CCDS46528.1, CCDS74661.1 2q36.3 2013-01-10 ENSG00000135905 ENSG00000135905 """Pleckstrin homology (PH) domain containing""" 23479 protein-coding gene gene with protein product """zizimin3""" 611518 12432077 Standard NM_014689 Approved ZIZ3, KIAA0694 uc010fwz.1 Q96BY6 OTTHUMG00000153428 ENST00000258390.7:c.3105C>T 2.37:g.225688296G>A B3FL70|O75178|Q9NW06|Q9NXI8 ENST00000258390.7 37 CCDS46528.1 DOCK10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331246.1 18.679073 0 -20 42 0 0 1 0 8 21.823872 31 0.205128 C11orf57 55216 broad.mit.edu hg19 11 111953260 111953260 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:111953260G>A ENST00000532163.1 + 6 1125 c.359G>A c.(358-360)cGc>cAc p.R120H C11orf57_ENST00000393047.3_Missense_Mutation_p.R149H|C11orf57_ENST00000420986.2_Missense_Mutation_p.R148H|C11orf57_ENST00000280352.9_Missense_Mutation_p.R148H Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 148 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) CATGAATCCCGCAAACACAAG 0.358 0 55.0 60.0 58.0 11 111953260 2201 4297 6498 SO:0001583 missense BX538107 CCDS8356.2, CCDS41715.1, CCDS73383.1 11q23.1 2006-03-09 ENSG00000150776 ENSG00000150776 25569 protein-coding gene gene with protein product 12477932 Standard NM_001082970 Approved FLJ10726 uc001pmw.4 Q6ZUT1 OTTHUMG00000150213 ENST00000393047.3:c.446G>A 11.37:g.111953260G>A ENSP00000376767:p.Arg149His Q5RL41|Q6IN53|Q7Z357|Q8N2T3 ENST00000393047.3 37 CCDS8356.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 8.597|8.597 0.886036|0.886036 0.17540|0.17540 .|. .|. ENSG00000150776|ENSG00000150776 ENST00000393048|ENST00000420986;ENST00000532163;ENST00000280352;ENST00000393047;ENST00000525785;ENST00000531378 .|. .|. .|. 5.06|5.06 -1.16|-1.16 0.09678|0.09678 .|. .|0.705657 .|0.13890 .|N .|0.355685 T|T 0.15003|0.15003 0.0362|0.0362 N|N 0.08118|0.08118 0|0 0.23003|0.23003 N|N 0.998448|0.998448 .|B;B .|0.02656 .|0.0;0.0 .|B;B .|0.01281 .|0.0;0.0 T|T 0.30909|0.30909 -0.9962|-0.9962 6|9 0.87932|0.14252 D|T 0|0.57 0.7805|0.7805 8.1671|8.1671 0.31233|0.31233 0.6366:0.1092:0.2543:0.0|0.6366:0.1092:0.2543:0.0 .|. .|149;148 .|Q6ZUT1-2;Q6ZUT1 .|.;CK057_HUMAN T|H 4|148;120;148;149;120;103 .|. ENSP00000376768:A4T|ENSP00000339076:R148H A|R +|+ 1|2 0|0 C11orf57|C11orf57 111458470|111458470 0.905000|0.905000 0.30787|0.30787 0.928000|0.928000 0.36995|0.36995 0.885000|0.885000 0.51271|0.51271 0.229000|0.229000 0.17833|0.17833 -0.576000|-0.576000 0.05974|0.05974 -1.814000|-1.814000 0.00607|0.00607 GCA|CGC C11orf57-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316853.1 -2.914035 0 -7 64 0 0 1 0 NM_018195 3 6.660295 45 0.062500 AKR7L 246181 broad.mit.edu hg19 1 19596161 19596161 + RNA SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:19596161C>T ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CGGGTGGTGGCGCTGTACATG 0.552 0 80.0 80.0 80.0 1 19596161 692 1591 2283 1p36.1-p35 2008-12-09 ENSG00000211454 ENSG00000211454 24056 protein-coding gene gene with protein product 608478 12879023 Standard NR_040288 Approved AFAR3 uc021ohn.1 Q8NHP1 OTTHUMG00000002520 1.37:g.19596161C>T Q5U614 ENST00000429712.1 37 . . . . . . . . . . C 16.18 3.049958 0.55218 . . ENSG00000211454 ENST00000429712;ENST00000388886 . . . 3.67 2.74 0.32292 NADP-dependent oxidoreductase domain (3); 0.000000 0.85682 D 0.000000 T 0.74596 0.3737 . . . 0.80722 D 1 D 0.89917 1.0 D 0.74674 0.984 T 0.73528 -0.3954 8 0.41790 T 0.15 . 10.4637 0.44594 0.0:0.8992:0.0:0.1008 . 174 Q8NHP1 ARK74_HUMAN T 174;139 . ENSP00000373538:A139T A - 1 0 AKR7L 19468748 1.000000 0.71417 0.979000 0.43373 0.151000 0.21798 4.329000 0.59260 0.870000 0.35726 0.305000 0.20034 GCC AKR7L-001 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000007163.3 47.265975 0 19 43 0 0 1 0 NM_201252 14 48.565961 4 0.777778 POLD1 5424 broad.mit.edu hg19 19 50917082 50917082 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:50917082C>T ENST00000440232.2 + 19 2387 c.2334C>T c.(2332-2334)gcC>gcT p.A778A POLD1_ENST00000595904.1_Silent_p.A804A|POLD1_ENST00000599857.1_Silent_p.A778A NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 778 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GGCGGGAGGCCGCGGACTGGG 0.657 0 60.0 59.0 60.0 19 50917082 2203 4300 6503 SO:0001819 synonymous_variant CCDS12795.1 19q13.3 2014-09-17 2012-05-18 ENSG00000062822 ENSG00000062822 """DNA polymerases""" 9175 protein-coding gene gene with protein product """CDC2 homolog (S. cerevisiae)""" 174761 """polymerase (DNA directed), delta 1, catalytic subunit (125kD)""" POLD 1722322 Standard NM_001256849 Approved CDC2 uc002psc.5 P28340 ENST00000440232.2:c.2334C>T 19.37:g.50917082C>T Q8NER3|Q96H98 ENST00000440232.2 37 CCDS12795.1 POLD1-002 KNOWN alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464732.1 20.546184 0 -2 62 0 0 1 0 9 23.148021 30 0.230769 ITGAX 3687 broad.mit.edu hg19 16 31374553 31374553 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:31374553C>T ENST00000268296.4 + 14 1689 c.1568C>T c.(1567-1569)gCg>gTg p.A523V ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 523 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CGCTTTGGGGCGGCTCTGACA 0.617 0 108.0 117.0 114.0 16 31374553 2197 4300 6497 SO:0001583 missense BC038237 CCDS10711.1, CCDS67014.1 16p11.2 2010-03-23 2006-02-10 ENSG00000140678 ENSG00000140678 """CD molecules"", ""Complement system"", ""Integrins""" 6152 protein-coding gene gene with protein product 151510 """integrin, alpha X (antigen CD11C (p150), alpha polypeptide)""" CD11C 3284962, 2303426 Standard NM_001286375 Approved CD11c uc002ebu.1 P20702 OTTHUMG00000132465 ENST00000268296.4:c.1568C>T 16.37:g.31374553C>T ENSP00000268296:p.Ala523Val Q8IVA6 ENST00000268296.4 37 CCDS10711.1 . . . . . . . . . . C 22.9 4.345086 0.82022 . . ENSG00000140678 ENST00000268296 T 0.24538 1.85 4.03 4.03 0.46877 . . . . . T 0.33440 0.0863 M 0.78049 2.395 0.37132 D 0.901292 D 0.71674 0.998 B 0.43331 0.416 T 0.54430 -0.8295 9 0.66056 D 0.02 . 13.447 0.61146 0.0:1.0:0.0:0.0 . 523 P20702 ITAX_HUMAN V 523 ENSP00000268296:A523V ENSP00000268296:A523V A + 2 0 ITGAX 31282054 0.869000 0.29996 0.996000 0.52242 0.944000 0.59088 1.939000 0.40213 1.952000 0.56665 0.460000 0.39030 GCG ITGAX-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000255628.2 55.818695 0 -43 110 0 0 1 0 NM_000887 22 59.464464 58 0.275000 FUT9 10690 broad.mit.edu hg19 6 96651363 96651363 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:96651363G>A ENST00000302103.5 + 3 658 c.332G>A c.(331-333)cGa>cAa p.R111Q NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 111 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ATCCATCACCGAGACATCAGT 0.468 0 125.0 109.0 115.0 6 96651363 2203 4300 6503 SO:0001583 missense AB023021 CCDS5033.1 6q16 2013-02-26 ENSG00000172461 ENSG00000172461 """Fucosyltransferases""" 4020 protein-coding gene gene with protein product 606865 10386598, 10575236 Standard NM_006581 Approved Fuc-TIX uc003pop.4 Q9Y231 OTTHUMG00000015236 ENST00000302103.5:c.332G>A 6.37:g.96651363G>A ENSP00000302599:p.Arg111Gln Q5T0W4 ENST00000302103.5 37 CCDS5033.1 . . . . . . . . . . G 24.4 4.525396 0.85600 . . ENSG00000172461 ENST00000302103 T 0.25579 1.79 5.3 5.3 0.74995 . 0.000000 0.85682 D 0.000000 T 0.48352 0.1495 M 0.82323 2.585 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 T 0.46952 -0.9154 10 0.44086 T 0.13 -7.5419 18.3049 0.90177 0.0:0.0:1.0:0.0 . 111 Q9Y231 FUT9_HUMAN Q 111 ENSP00000302599:R111Q ENSP00000302599:R111Q R + 2 0 FUT9 96758084 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.420000 0.97426 2.643000 0.89663 0.655000 0.94253 CGA FUT9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041554.2 29.308262 0 -4 59 0 0 1 0 NM_006581 11 30.972955 28 0.282051 ROR2 4920 hgsc.bcm.edu hg19 9 94495610 94495610 + Missense_Mutation SNP C C T rs55737262 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 C C . . . . Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe CTTGGGTGTCCGGGAGCGCGC 0.647 0 41.0 39.0 39.0 9 94495610 2203 4300 6503 SO:0001583 missense M97639 CCDS6691.1 9q22 2013-01-11 ENSG00000169071 ENSG00000169071 """Immunoglobulin superfamily / I-set domain containing""" 10257 protein-coding gene gene with protein product 602337 NTRKR2, BDB, BDB1 1334494, 10700182 Standard NM_004560 Approved uc004arj.2 Q01974 OTTHUMG00000020211 ENST00000375708.3:c.731G>A 9.37:g.94495610C>T ENSP00000364860:p.Arg244Gln Q59GF5|Q5SPI5|Q9HAY7|Q9HB61 ENST00000375708.3 37 CCDS6691.1 . . . . . . . . . . C 12.15 1.851177 0.32699 . . ENSG00000169071 ENST00000375715;ENST00000375708 T;T 0.75821 0.6;-0.97 4.44 4.44 0.53790 Frizzled domain (2);Kringle (1); 0.000000 0.38164 N 0.001794 T 0.61664 0.2365 L 0.46157 1.445 0.50467 D 0.99987 B;B;B 0.29115 0.112;0.233;0.112 B;B;B 0.18561 0.015;0.02;0.022 T 0.56786 -0.7921 10 0.13108 T 0.6 . 10.8451 0.46739 0.0:0.9142:0.0:0.0858 rs55737262 244;244;104 A1L4F5;Q01974;B1APY4 .;ROR2_HUMAN;. Q 104;244 ENSP00000364867:R104Q;ENSP00000364860:R244Q ENSP00000364860:R244Q R - 2 0 ROR2 93535431 0.129000 0.22400 1.000000 0.80357 0.900000 0.52787 3.497000 0.53295 2.306000 0.77630 0.561000 0.74099 CGG ROR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053040.1 -9 19 4 14 GREB1 9687 broad.mit.edu hg19 2 11774455 11774455 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:11774455C>T ENST00000381486.2 + 29 5490 c.5190C>T c.(5188-5190)aaC>aaT p.N1730N GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1730 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TGACCCAGAACGTGCAGTACA 0.657 0 35.0 37.0 36.0 2 11774455 2100 4232 6332 SO:0001819 synonymous_variant CCDS33146.1, CCDS33147.1, CCDS42655.1 2p25.1 2010-02-17 2009-09-10 ENSG00000196208 ENSG00000196208 24885 protein-coding gene gene with protein product """gene regulated by estrogen in breast cancer""" 611736 11103799 Standard NM_014668 Approved KIAA0575 uc002rbk.1 Q4ZG55 OTTHUMG00000141276 ENST00000381486.2:c.5190C>T 2.37:g.11774455C>T A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8 ENST00000381486.2 37 CCDS42655.1 GREB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280490.1 12.598478 0 -4 30 0 0 1 0 NM_014668 4 12.685791 6 0.400000 ATF6B 1388 broad.mit.edu hg19 6 32084485 32084485 + Missense_Mutation SNP C C T rs148987710 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:32084485C>T ENST00000375201.4 - 16 1829 c.1784G>A c.(1783-1785)cGa>cAa p.R595Q ATF6B_ENST00000375203.3_Missense_Mutation_p.R598Q Q99941 ATF6B_HUMAN activating transcription factor 6 beta 598 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 ACTCACCCTTCGGAAAGAGAC 0.552 0 81.0 77.0 79.0 6 32084485 2203 4300 6503 SO:0001583 missense CCDS47408.1, CCDS4737.1 6p21.3 2013-01-10 2008-10-21 2008-10-21 ENSG00000213676 ENSG00000213676 """basic leucine zipper proteins""" 2349 protein-coding gene gene with protein product 600984 """cAMP responsive element binding protein-like 1""" CREBL1 11256944, 14973138 Standard NM_004381 Approved G13 uc003nzn.3 Q99941 OTTHUMG00000031296 ENST00000375203.3:c.1793G>A 6.37:g.32084485C>T ENSP00000364349:p.Arg598Gln B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0 ENST00000375203.3 37 CCDS4737.1 . . . . . . . . . . C 33 5.289386 0.95517 4.54E-4 2.33E-4 ENSG00000213676 ENST00000375192;ENST00000375203;ENST00000375201 T;T 0.60548 0.18;0.93 5.17 5.17 0.71159 . 0.000000 0.56097 U 0.000023 T 0.65780 0.2724 L 0.49126 1.545 0.51012 D 0.999906 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.83275 0.996;0.996;0.992 T 0.69698 -0.5075 10 0.87932 D 0 -4.5871 16.1583 0.81680 0.0:1.0:0.0:0.0 . 595;598;598 Q99941-2;Q99941;Q6AZW6 .;ATF6B_HUMAN;. Q 201;598;595 ENSP00000364349:R598Q;ENSP00000364347:R595Q ENSP00000364338:R201Q R - 2 0 ATF6B 32192463 1.000000 0.71417 1.000000 0.80357 0.750000 0.42670 6.988000 0.76212 2.403000 0.81681 0.563000 0.77884 CGA ATF6B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000076638.2 47.224221 0 -6 39 0 0 1 0 15 47.224221 15 0.500000 CASP14 23581 broad.mit.edu hg19 19 15166256 15166256 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:15166256G>A ENST00000427043.3 + 6 844 c.536G>A c.(535-537)cGa>cAa p.R179Q CASP14_ENST00000221740.1_Missense_Mutation_p.R179Q NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 179 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 ATCGCCTACCGACATGATCAG 0.532 0 110.0 95.0 100.0 19 15166256 2203 4300 6503 SO:0001583 missense CCDS12323.1 19p13.1 2008-07-16 2005-08-17 ENSG00000105141 1502 protein-coding gene gene with protein product """apoptosis-related cysteine protease""" 605848 """caspase 14, apoptosis-related cysteine protease""" 10203698, 9792675 Standard NM_012114 Approved MICE, MGC119078, MGC119079 uc010dzv.2 P31944 ENST00000427043.3:c.536G>A 19.37:g.15166256G>A ENSP00000393417:p.Arg179Gln O95823|Q3SYC9 ENST00000427043.3 37 CCDS12323.1 6 0.0027472527472527475 3 0.006097560975609756 0 0.0 3 0.005244755244755245 0 0.0 g 15.58 2.875696 0.51695 . . ENSG00000105141 ENST00000427043;ENST00000221740 T;T 0.25250 1.81;1.81 4.5 4.5 0.54988 Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2); 0.224065 0.30940 N 0.008578 T 0.52901 0.1763 H 0.96398 3.815 0.42975 D 0.994442 D 0.89917 1.0 D 0.66196 0.942 T 0.72424 -0.4298 10 0.72032 D 0.01 . 13.0259 0.58814 0.0:0.0:1.0:0.0 . 179 P31944 CASPE_HUMAN Q 179 ENSP00000393417:R179Q;ENSP00000221740:R179Q ENSP00000221740:R179Q R + 2 0 CASP14 15027256 1.000000 0.71417 1.000000 0.80357 0.069000 0.16628 4.534000 0.60622 2.197000 0.70478 0.462000 0.41574 CGA CASP14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465663.1 10.516956 0 -16 103 0 0 1 0 NM_012114 9 22.378062 71 0.112500 ANK1 286 broad.mit.edu hg19 8 41550657 41550657 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:41550657C>T ENST00000396942.1 - 30 3678 c.3595G>A c.(3595-3597)Gag>Aag p.E1199K ANK1_ENST00000265709.8_Missense_Mutation_p.E1240K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1199K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1199K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1199K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1199K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1199K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1199 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTGGCGCACTCGTTGGCATAT 0.572 0 365.0 284.0 312.0 8 41550657 2203 4300 6503 SO:0001583 missense M28880 CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1 8p11.21 2013-01-10 ENSG00000029534 ENSG00000029534 """Ankyrin repeat domain containing""" 492 protein-coding gene gene with protein product 612641 ANK 1689849 Standard NM_001142445 Approved SPH1 uc003xom.3 P16157 OTTHUMG00000150281 ENST00000289734.7:c.3595G>A 8.37:g.41550657C>T ENSP00000289734:p.Glu1199Lys A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407 ENST00000289734.7 37 CCDS6121.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 26.3|26.3 4.728921|4.728921 0.89390|0.89390 .|. .|. ENSG00000029534|ENSG00000029534 ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299 T;T;T;T;T;T;T|. 0.73789|. -0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78|. 4.94|4.94 4.94|4.94 0.65067|0.65067 .|. 0.250398|. 0.38492|. N|. 0.001673|. T|T 0.60932|0.60932 0.2307|0.2307 L|L 0.38838|0.38838 1.175|1.175 0.54753|0.54753 D|D 0.999983|0.999983 P;P;D;D;P;D|. 0.59357|. 0.886;0.912;0.979;0.972;0.886;0.985|. B;B;B;B;B;B|. 0.42462|. 0.388;0.239;0.296;0.388;0.388;0.326|. T|T 0.56679|0.56679 -0.7939|-0.7939 10|5 0.87932|. D|. 0|. .|. 18.5488|18.5488 0.91056|0.91056 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 1240;1199;1199;1199;1199;515|. P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|. .;.;ANK1_HUMAN;.;.;.|. K|Q 1199;1199;1199;1199;1199;1199;1240;1199|520 ENSP00000339620:E1199K;ENSP00000289734:E1199K;ENSP00000369082:E1199K;ENSP00000380149:E1199K;ENSP00000380147:E1199K;ENSP00000309131:E1199K;ENSP00000265709:E1240K|. ENSP00000265709:E1240K|. E|R -|- 1|2 0|0 ANK1|ANK1 41669814|41669814 1.000000|1.000000 0.71417|0.71417 0.980000|0.980000 0.43619|0.43619 0.838000|0.838000 0.47535|0.47535 4.859000|4.859000 0.62954|0.62954 2.453000|2.453000 0.82957|0.82957 0.467000|0.467000 0.42956|0.42956 GAG|CGA ANK1-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000317298.1 -3.717351 0 15 87 0 0 1 0 NM_020475 3 6.405836 47 0.060000 SUN5 140732 broad.mit.edu hg19 20 31571673 31571673 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:31571673C>T ENST00000356173.3 - 13 1159 c.1067G>A c.(1066-1068)cGc>cAc p.R356H SUN5_ENST00000375523.3_Missense_Mutation_p.R331H NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 356 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CACTCGCACGCGGTACAGGCA 0.557 0 84.0 92.0 90.0 20 31571673 2203 4300 6503 SO:0001583 missense AL121756 CCDS13209.1 20q11.21 2010-01-27 2010-01-27 2010-01-27 ENSG00000167098 ENSG00000167098 16252 protein-coding gene gene with protein product """testis and spermatogenesis related gene 4""" 613942 """sperm associated antigen 4-like""" SPAG4L 9691178, 10373309 Standard NM_080675 Approved dJ726C3.1, TSARG4 uc002wyi.3 Q8TC36 OTTHUMG00000032239 ENST00000356173.3:c.1067G>A 20.37:g.31571673C>T ENSP00000348496:p.Arg356His A6NJ82|Q5T9R0 ENST00000356173.3 37 CCDS13209.1 . . . . . . . . . . C 22.9 4.352931 0.82132 . . ENSG00000167098 ENST00000356173;ENST00000375523 T;T 0.80480 -1.38;-1.38 4.86 4.86 0.63082 Sad1/UNC-like, C-terminal (2); 0.000000 0.85682 D 0.000000 D 0.90003 0.6879 M 0.85462 2.755 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.91434 0.5168 10 0.87932 D 0 -21.1096 13.8647 0.63581 0.0:1.0:0.0:0.0 . 356 Q8TC36 SUN5_HUMAN H 356;331 ENSP00000348496:R356H;ENSP00000364673:R331H ENSP00000348496:R356H R - 2 0 SUN5 31035334 1.000000 0.71417 0.949000 0.38748 0.695000 0.40330 5.510000 0.67018 2.408000 0.81797 0.655000 0.94253 CGC SUN5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078659.1 18.075101 0 22 150 0 0 1 0 NM_080675 11 27.073959 64 0.146667 ABCA7 10347 broad.mit.edu hg19 19 1054604 1054604 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:1054604C>T ENST00000263094.6 + 28 3993 c.3762C>T c.(3760-3762)ctC>ctT p.L1254L ABCA7_ENST00000435683.2_Silent_p.L1116L|ABCA7_ENST00000433129.1_Silent_p.L1254L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1254 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTGGCCCTCGTGTTCAGCC 0.632 0 89.0 67.0 74.0 19 1054604 2203 4300 6503 SO:0001819 synonymous_variant AF328787 CCDS12055.1 19p13.3 2012-03-14 ENSG00000064687 ENSG00000064687 """ATP binding cassette transporters / subfamily A""" 37 protein-coding gene gene with protein product 605414 Standard NM_019112 Approved ABCX uc002lqw.4 Q8IZY2 OTTHUMG00000167547 ENST00000435683.2:c.3348C>T 19.37:g.1054604C>T Q96S58|Q9BZC4|Q9NR73|Q9UKP8 ENST00000435683.2 37 ABCA7-002 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000395001.2 4.310128 0 5 42 0 0 1 0 NM_019112 3 7.364893 20 0.130435 ATP5J2-PTCD1 26024 broad.mit.edu hg19 7 99022532 99022532 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:99022532C>T ENST00000292478.4 - 6 1873 c.1623G>A c.(1621-1623)gcG>gcA p.A541A PTCD1_ENST00000555673.1_Silent_p.A590A|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A590A NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CCGGCAACAGCGCCTTGGCCC 0.612 0 73.0 69.0 70.0 7 99022532 2203 4300 6503 SO:0001819 synonymous_variant CCDS56496.1 7q22.1 2011-02-21 ENSG00000248919 ENSG00000248919 38844 other readthrough Standard NM_001198879 Approved uc011kiw.2 OTTHUMG00000160779 ENST00000413834.1:c.1770G>A 7.37:g.99022532C>T ENST00000413834.1 37 CCDS56496.1 ATP5J2-PTCD1-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000362258.1 17.914275 0 -18 37 0 0 1 0 NM_001198879.1 7 19.163303 19 0.269231 FGFR4 2264 broad.mit.edu hg19 5 176520431 176520431 + Missense_Mutation SNP G G A rs55879131 by1000genomes TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:176520431G>A ENST00000292408.4 + 10 1521 c.1276G>A c.(1276-1278)Ggc>Agc p.G426S FGFR4_ENST00000393637.1_Missense_Mutation_p.G386S|FGFR4_ENST00000502906.1_Missense_Mutation_p.G426S|FGFR4_ENST00000292410.3_Missense_Mutation_p.G386S|FGFR4_ENST00000393648.2_Silent_p.P374P NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 426 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCTCTTCCGGCAAGTCAAG 0.617 0 79.0 81.0 80.0 5 176520431 2203 4300 6503 SO:0001583 missense AF202063 CCDS4410.1, CCDS4411.1 5q35.2 2013-09-19 ENSG00000160867 ENSG00000160867 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing""" 3691 protein-coding gene gene with protein product 134935 Standard XM_005265837 Approved JTK2, CD334 uc003mfm.3 P22455 OTTHUMG00000151523 ENST00000292408.4:c.1276G>A 5.37:g.176520431G>A ENSP00000292408:p.Gly426Ser G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5 ENST00000292408.4 37 CCDS4410.1 1|1 4.578754578754579E-4|4.578754578754579E-4 0|0 0.0|0.0 0|0 0.0|0.0 0|0 0.0|0.0 1|1 0.0013192612137203166|0.0013192612137203166 G|G 10.99|10.99 1.506986|1.506986 0.27036|0.27036 0.0|0.0 1.16E-4|1.16E-4 ENSG00000160867|ENSG00000160867 ENST00000292408;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076 D;D;D;D|. 0.82984|. -1.67;-1.67;-1.67;-1.67|. 4.76|4.76 3.89|3.89 0.44902|0.44902 .|. 0.213165|. 0.48286|. N|. 0.000189|. T|T 0.63640|0.63640 0.2528|0.2528 L|L 0.60455|0.60455 1.87|1.87 0.40652|0.40652 D|D 0.982048|0.982048 P;B|. 0.39964|. 0.697;0.083|. B;B|. 0.29524|. 0.103;0.015|. T|T 0.63791|0.63791 -0.6557|-0.6557 10|5 0.07813|. T|. 0.8|. .|. 13.0003|13.0003 0.58672|0.58672 0.0792:0.0:0.9208:0.0|0.0792:0.0:0.9208:0.0 rs55879131|rs55879131 386;426|. P22455-2;P22455|. .;FGFR4_HUMAN|. S|Q 426;426;386;386;654|57 ENSP00000292408:G426S;ENSP00000424960:G426S;ENSP00000292410:G386S;ENSP00000377254:G386S|. ENSP00000292408:G426S|. G|R +|+ 1|2 0|0 FGFR4|FGFR4 176453037|176453037 1.000000|1.000000 0.71417|0.71417 0.864000|0.864000 0.33941|0.33941 0.633000|0.633000 0.38033|0.38033 3.836000|3.836000 0.55813|0.55813 1.256000|1.256000 0.44068|0.44068 -0.226000|-0.226000 0.12346|0.12346 GGC|CGG FGFR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253410.1 38.795248 0 -18 94 0 0 1 0 15 42.560067 47 0.241935 DLX2 1746 broad.mit.edu hg19 2 172965648 172965648 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:172965648G>A ENST00000234198.4 - 3 971 c.610C>T c.(610-612)Cgg>Tgg p.R204W DLX2_ENST00000466293.2_3'UTR NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 204 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.216) AACTTGGACCGGCGGTTCTGG 0.542 0 37.0 38.0 38.0 2 172965648 2141 4151 6292 SO:0001583 missense U51003 CCDS2248.1 2q31.1 2011-06-20 2005-12-22 ENSG00000115844 ENSG00000115844 """Homeoboxes / ANTP class : NKL subclass""" 2915 protein-coding gene gene with protein product 126255 """distal-less homeo box 2""" 1354641 Standard NM_004405 Approved TES-1 uc002uhn.3 Q07687 OTTHUMG00000132276 ENST00000234198.4:c.610C>T 2.37:g.172965648G>A ENSP00000234198:p.Arg204Trp B4DMK4|B7ZA14 ENST00000234198.4 37 CCDS2248.1 . . . . . . . . . . g 25.5 4.648960 0.87958 . . ENSG00000115844 ENST00000234198 D 0.99167 -5.51 4.8 4.8 0.61643 Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1); 0.000000 0.85682 D 0.000000 D 0.99486 0.9817 H 0.96080 3.765 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.98221 1.0478 10 0.87932 D 0 -15.7063 13.3491 0.60591 0.0:0.0:0.8413:0.1587 . 204 Q07687 DLX2_HUMAN W 204 ENSP00000234198:R204W ENSP00000234198:R204W R - 1 2 DLX2 172673894 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.497000 0.60367 2.196000 0.70406 0.457000 0.33378 CGG DLX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255368.3 6.044595 0 -7 47 0 0 1 0 5 12.030141 37 0.119048 MIR519A2 0 broad.mit.edu hg19 19 54264407 54264407 + RNA SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:54264407G>A ENST00000384888.1 + 0 21 NR_030221.1 TGACCTTCTCGAGGAAAGAAG 0.413 0 110.0 100.0 103.0 19 54264407 1568 3582 5150 19q13.42 2011-09-12 2008-12-18 ENSG00000207723 """ncRNAs / Micro RNAs""" 32132 non-coding RNA RNA, micro MIRN519A-2, MIRN519A2 Standard NR_030222 Approved hsa-mir-519a-2 uc021vaz.1 19.37:g.54264407G>A ENST00000384990.1 37 MIR519A2-201 KNOWN basic miRNA lincRNA 99.488258 0 -46 131 0 0 1 0 NR_030222 32 99.966874 45 0.415584 FAM57B 83723 broad.mit.edu hg19 16 30036680 30036680 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:30036680G>A ENST00000380495.4 - 5 1380 c.649C>T c.(649-651)Cgc>Tgc p.R217C FAM57B_ENST00000279389.4_Missense_Mutation_p.R167C|FAM57B_ENST00000564806.1_3'UTR NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 217 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CCGGCATGGCGCCCGTAGGCC 0.672 0 36.0 39.0 38.0 16 30036680 2195 4296 6491 SO:0001583 missense AF370365 CCDS10667.2 16p11.2 2013-02-19 ENSG00000149926 ENSG00000149926 25295 protein-coding gene gene with protein product 615175 11230166, 23275342 Standard NM_031478 Approved DKFZP434I2117 uc002dvt.3 Q71RH2 OTTHUMG00000132105 ENST00000380495.4:c.649C>T 16.37:g.30036680G>A ENSP00000369863:p.Arg217Cys Q9H0J1 ENST00000380495.4 37 CCDS10667.2 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 17.01 3.280625 0.59758 . . ENSG00000149926 ENST00000380495 D 0.85773 -2.03 4.78 3.8 0.43715 TRAM/LAG1/CLN8 homology domain (3); 0.124480 0.49916 D 0.000124 D 0.85137 0.5628 M 0.75777 2.31 0.80722 D 1 P 0.39116 0.66 B 0.41332 0.354 T 0.83349 -0.0004 10 0.37606 T 0.19 -5.6786 13.0654 0.59030 0.0:0.0:0.8373:0.1627 . 217 Q71RH2 FA57B_HUMAN C 217 ENSP00000369863:R217C ENSP00000369863:R217C R - 1 0 FAM57B 29944181 1.000000 0.71417 1.000000 0.80357 0.966000 0.64601 2.638000 0.46562 0.950000 0.37743 0.561000 0.74099 CGC FAM57B-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255142.2 11.498167 0 0 21 0 0 1 0 NM_031478 4 11.585551 6 0.400000 REXO1 57455 broad.mit.edu hg19 19 1828397 1828397 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:1828397C>T ENST00000170168.4 - 2 485 c.391G>A c.(391-393)Ggc>Agc p.G131S REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 131 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTTggggccgcggggcgcc 0.731 0 SO:0001583 missense AB032964 CCDS32866.1 19p13.3 2014-05-28 2005-08-22 2005-08-22 ENSG00000079313 ENSG00000079313 24616 protein-coding gene gene with protein product """elongin A binding protein 1""" 609614 """transcription elongation factor B polypeptide 3 binding protein 1""" TCEB3BP1 10574461 Standard NM_020695 Approved EloA-BP1, KIAA1138 uc002lua.4 Q8N1G1 OTTHUMG00000179991 ENST00000170168.4:c.391G>A 19.37:g.1828397C>T ENSP00000170168:p.Gly131Ser Q9ULT2 ENST00000170168.4 37 CCDS32866.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 0.356 -0.942275 0.02322 . . ENSG00000079313 ENST00000170168;ENST00000413153 T 0.10860 2.83 3.42 -0.681 0.11342 . 1.624920 0.03428 N 0.207374 T 0.05456 0.0144 N 0.17474 0.49 0.09310 N 1 B;B 0.31817 0.341;0.001 B;B 0.19148 0.024;0.001 T 0.29212 -1.0019 10 0.08179 T 0.78 -10.4205 6.959 0.24587 0.0:0.2925:0.0:0.7075 . 85;131 F5H016;Q8N1G1 .;REXO1_HUMAN S 131;85 ENSP00000170168:G131S ENSP00000170168:G131S G - 1 0 REXO1 1779397 0.001000 0.12720 0.006000 0.13384 0.001000 0.01503 0.079000 0.14782 0.066000 0.16515 -0.448000 0.05591 GGC REXO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449200.1 6.815597 0 -5 20 0 0 1 0 NM_020695 3 8.278564 13 0.187500 IFT27 11020 broad.mit.edu hg19 22 37163883 37163883 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:37163883C>T ENST00000340630.5 - 2 500 c.55G>A c.(55-57)Gcc>Acc p.A19T IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000433985.2_Missense_Mutation_p.A20T NM_006860.4 NP_006851.1 Q9BW83 IFT27_HUMAN intraflagellar transport 27 homolog (Chlamydomonas) 20 small GTPase mediated signal transduction intraflagellar transport particle B|microtubule-based flagellum GTP binding endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TGTGCCAGGGCGGTCTTGCCC 0.512 0 210.0 198.0 202.0 22 37163883 2203 4300 6503 SO:0001583 missense Z80897 CCDS13932.1, CCDS54523.1 22q13.1 2014-07-03 2014-07-03 2010-04-22 ENSG00000100360 ENSG00000100360 """Intraflagellar transport homologs"", ""RAB, member RAS oncogene""" 18626 protein-coding gene gene with protein product 615870 """RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)""" RABL4 12529303, 17276912 Standard NM_001177701 Approved RAYL, BBS19 uc003apv.3 Q9BW83 OTTHUMG00000150544 ENST00000340630.5:c.55G>A 22.37:g.37163883C>T ENSP00000343593:p.Ala19Thr O60897 ENST00000340630.5 37 CCDS13932.1 . . . . . . . . . . C 13.42 2.231071 0.39399 . . ENSG00000100360 ENST00000340630;ENST00000433985;ENST00000417951;ENST00000430701 T;T;T;T 0.75260 -0.92;-0.92;-0.92;-0.92 4.5 3.46 0.39613 Small GTP-binding protein domain (1); 0.209151 0.41294 D 0.000903 T 0.76111 0.3942 L 0.49126 1.545 0.80722 D 1 D;P;P;P 0.69078 0.997;0.899;0.954;0.835 P;B;B;B 0.57960 0.83;0.236;0.313;0.416 T 0.75897 -0.3155 10 0.49607 T 0.09 . 8.4676 0.32966 0.0:0.8151:0.0:0.1849 . 59;19;20;19 F5GZ09;B1AH58;Q9BW83;Q9BW83-2 .;.;IFT27_HUMAN;. T 19;20;59;19 ENSP00000343593:A19T;ENSP00000393541:A20T;ENSP00000392016:A59T;ENSP00000390016:A19T ENSP00000343593:A19T A - 1 0 IFT27 35493829 0.763000 0.28462 0.921000 0.36526 0.487000 0.33371 1.307000 0.33516 2.060000 0.61445 0.561000 0.74099 GCC IFT27-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000318834.1 -27.860253 0 -4 236 0 0 1 0 NM_006860 5 10.057954 153 0.031646 KCNA5 3741 broad.mit.edu hg19 12 5154303 5154303 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:5154303G>A ENST00000252321.3 + 1 1219 c.990G>A c.(988-990)acG>acA p.T330T NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 330 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TGGAGACCACGTGCGTCATCT 0.652 1 86.0 78.0 81.0 12 5154303 2203 4300 6503 SO:0001819 synonymous_variant M83254 CCDS8536.1 12p13 2012-07-05 ENSG00000130037 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6224 protein-coding gene gene with protein product 176267 16382104 Standard NM_002234 Approved Kv1.5, HK2, HPCN1 uc001qni.4 P22460 ENST00000252321.3:c.990G>A 12.37:g.5154303G>A Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4 ENST00000252321.3 37 CCDS8536.1 KCNA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398925.2 7.281245 0 -3 95 0 0 1 0 NM_002234 7 16.699361 56 0.111111 SCN8A 6334 broad.mit.edu hg19 12 52200942 52200942 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:52200942G>A ENST00000354534.6 + 27 5850 c.5672G>A c.(5671-5673)cGt>cAt p.R1891H SCN8A_ENST00000545061.1_Missense_Mutation_p.R1850H NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) ACCACACTGCGTCGCAAGCAG 0.547 0 135.0 141.0 139.0 12 52200942 2079 4221 6300 SO:0001583 missense AB027567 CCDS44891.1, CCDS53794.1 12q13.1 2012-02-26 2007-01-23 ENSG00000196876 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10596 protein-coding gene gene with protein product 600702 """sodium channel, voltage gated, type VIII, alpha polypeptide""" MED 7670495, 9828131, 16382098 Standard NM_014191 Approved Nav1.6, NaCh6, PN4, CerIII uc001ryw.4 Q9UQD0 ENST00000354534.6:c.5672G>A 12.37:g.52200942G>A ENSP00000346534:p.Arg1891His B9VWG8|O95788|Q9NYX2|Q9UPB2 ENST00000354534.6 37 CCDS44891.1 . . . . . . . . . . G 19.34 3.809232 0.70797 . . ENSG00000196876 ENST00000354534;ENST00000545061 D;D 0.96200 -3.94;-3.88 5.04 5.04 0.67666 . 0.000000 0.85682 D 0.000000 D 0.97390 0.9146 M 0.78223 2.4 0.80722 D 1 D 0.76494 0.999 D 0.63033 0.91 D 0.97617 1.0133 10 0.66056 D 0.02 . 18.9611 0.92678 0.0:0.0:1.0:0.0 . 1891 Q9UQD0 SCN8A_HUMAN H 1891;1850 ENSP00000346534:R1891H;ENSP00000440360:R1850H ENSP00000346534:R1891H R + 2 0 SCN8A 50487209 0.937000 0.31787 1.000000 0.80357 0.831000 0.47069 4.762000 0.62250 2.793000 0.96121 0.655000 0.94253 CGT SCN8A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404372.3 -29.670062 0 0 207 0 0 1 0 NM_014191 4 6.836714 144 0.027027 ATP10D 57205 broad.mit.edu hg19 4 47538910 47538910 + Nonsense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:47538910C>T ENST00000273859.3 + 9 1620 c.1351C>T c.(1351-1353)Cga>Tga p.R451* ATP10D_ENST00000504445.1_Nonsense_Mutation_p.R436* NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 451 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GATGGTTTTTCGAAGATGTAG 0.443 0 66.0 64.0 64.0 4 47538910 2203 4300 6503 SO:0001587 stop_gained AB040920 CCDS3476.1 4p12 2010-04-20 2007-09-19 ENSG00000145246 ENSG00000145246 """ATPases / P-type""" 13549 protein-coding gene gene with protein product """ATPase, Class V, type 10D""" 12532265 Standard NM_020453 Approved ATPVD, KIAA1487 uc003gxk.1 Q9P241 OTTHUMG00000160784 ENST00000273859.3:c.1351C>T 4.37:g.47538910C>T ENSP00000273859:p.Arg451* A2RRC8|D6REN2|Q8NC70|Q96SR3 ENST00000273859.3 37 CCDS3476.1 . . . . . . . . . . C 34 5.355705 0.95854 0.0 1.16E-4 ENSG00000145246 ENST00000273859;ENST00000504445 . . . 5.38 3.6 0.41247 . 0.073080 0.56097 D 0.000032 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -10.3079 13.588 0.61942 0.2829:0.7171:0.0:0.0 . . . . X 451;436 . ENSP00000273859:R451X R + 1 2 ATP10D 47233667 1.000000 0.71417 1.000000 0.80357 0.894000 0.52154 3.222000 0.51223 0.605000 0.29947 0.650000 0.86243 CGA ATP10D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000216900.1 0.294672 0 -19 38 0 0 1 0 NM_020453 3 6.911429 34 0.081081 P2RY2 5029 broad.mit.edu hg19 11 72945667 72945667 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:72945667G>A ENST00000311131.2 + 3 930 c.463G>A c.(463-465)Ggg>Agg p.G155R P2RY2_ENST00000393596.2_Missense_Mutation_p.G155R|P2RY2_ENST00000393597.2_Missense_Mutation_p.G155R NM_002564.2|NM_176072.1 NP_002555|NP_788086 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 155 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 CCGGGTGGCCGGGGCCGTGTG 0.721 0 27.0 30.0 29.0 11 72945667 2197 4287 6484 SO:0001583 missense U07225 CCDS8219.1 11q13.5-q14.1 2012-08-08 ENSG00000175591 """Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y""" 8541 protein-coding gene gene with protein product 600041 8159738, 9286708 Standard NM_002564 Approved P2U uc001otj.4 P41231 ENST00000311131.2:c.463G>A 11.37:g.72945667G>A ENSP00000310305:p.Gly155Arg B2R9W3|Q96EM8 ENST00000311131.2 37 CCDS8219.1 . . . . . . . . . . G 11.81 1.749562 0.30955 . . ENSG00000175591 ENST00000393597;ENST00000311131;ENST00000393596 T;T;T 0.38722 1.12;1.12;1.12 5.24 4.31 0.51392 GPCR, rhodopsin-like superfamily (1); 0.199336 0.41938 D 0.000798 T 0.47985 0.1475 M 0.64404 1.975 0.09310 N 1 B 0.32543 0.375 B 0.40565 0.333 T 0.49643 -0.8918 10 0.66056 D 0.02 . 14.1042 0.65078 0.0:0.0:0.8483:0.1517 . 155 P41231 P2RY2_HUMAN R 155 ENSP00000377222:G155R;ENSP00000310305:G155R;ENSP00000377221:G155R ENSP00000310305:G155R G + 1 0 P2RY2 72623315 0.175000 0.23083 0.002000 0.10522 0.217000 0.24651 2.889000 0.48601 1.179000 0.42884 0.561000 0.74099 GGG P2RY2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397336.1 5.542406 0 -25 45 0 0 1 0 NM_176072 5 12.270545 40 0.111111 ZNF521 25925 broad.mit.edu hg19 18 22807526 22807526 + Missense_Mutation SNP G G A rs149969134 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:22807526G>A ENST00000361524.3 - 4 504 c.356C>T c.(355-357)cCg>cTg p.P119L ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.P119L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 119 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAATTGACACGGGTATGGAAG 0.517 0 105.0 98.0 100.0 18 22807526 2203 4300 6503 SO:0001583 missense AK027354 CCDS32806.1 18q11.2 2013-01-08 ENSG00000198795 """Zinc fingers, C2H2-type""" 24605 protein-coding gene gene with protein product """early hematopoietic zinc finger""" 610974 11984006, 14630787 Standard NM_015461 Approved EHZF, Evi3 uc002kvk.2 Q96K83 ENST00000361524.3:c.356C>T 18.37:g.22807526G>A ENSP00000354794:p.Pro119Leu A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4 ENST00000361524.3 37 CCDS32806.1 . . . . . . . . . . G 11.14 1.549679 0.27652 0.0 1.16E-4 ENSG00000198795 ENST00000361524;ENST00000538137;ENST00000399425 T;T 0.52057 0.68;0.68 6.07 6.07 0.98685 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.053757 0.85682 D 0.000000 T 0.49201 0.1543 N 0.19112 0.55 0.54753 D 0.999984 D 0.63880 0.993 P 0.56700 0.804 T 0.40850 -0.9541 10 0.38643 T 0.18 -17.3632 16.8961 0.86101 0.0:0.0:0.8714:0.1286 . 119 Q96K83 ZN521_HUMAN L 119;153;119 ENSP00000354794:P119L;ENSP00000382352:P119L ENSP00000354794:P119L P - 2 0 ZNF521 21061524 1.000000 0.71417 0.437000 0.26809 0.754000 0.42855 7.617000 0.83032 2.885000 0.99019 0.655000 0.94253 CCG ZNF521-001 KNOWN overlapping_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000446781.2 31.598146 0 -37 101 0 0 1 0 NM_015461 15 40.179553 71 0.174419 SLC25A18 83733 broad.mit.edu hg19 22 18072420 18072420 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:18072420C>T ENST00000327451.6 + 10 1333 c.795C>T c.(793-795)acC>acT p.T265T SLC25A18_ENST00000399813.1_Silent_p.T265T NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) GTGGGATCACCGACTGTGCCA 0.488 1 80.0 76.0 77.0 22 18072420 2203 4300 6503 SO:0001819 synonymous_variant AY008285 CCDS13744.1 22q11.2 2013-05-22 2012-03-29 ENSG00000182902 ENSG00000182902 """Solute carriers""" 10988 protein-coding gene gene with protein product 609303 """solute carrier family 25 (mitochondrial carrier), member 18""" 11381032, 11897791 Standard NM_031481 Approved uc002zmp.1 Q9H1K4 OTTHUMG00000150089 ENST00000327451.6:c.795C>T 22.37:g.18072420C>T ENST00000327451.6 37 CCDS13744.1 SLC25A18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316214.3 20.318302 0 -6 53 0 0 1 0 NM_031481 7 20.834764 14 0.333333 ITGA2 3673 broad.mit.edu hg19 5 52358678 52358678 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:52358678C>T ENST00000296585.5 + 13 1664 c.1521C>T c.(1519-1521)gaC>gaT p.D507D NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 507 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CCATTACAGACGTGCTCTTGG 0.368 0 186.0 172.0 177.0 5 52358678 2203 4300 6503 SO:0001819 synonymous_variant CCDS3957.1 5q11.2 2010-03-23 ENSG00000164171 ENSG00000164171 """CD molecules"", ""Integrins""" 6137 protein-coding gene gene with protein product 192974 CD49B Standard NM_002203 Approved CD49b uc003joy.3 P17301 OTTHUMG00000131165 ENST00000296585.5:c.1521C>T 5.37:g.52358678C>T Q14595 ENST00000296585.5 37 CCDS3957.1 ITGA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253857.2 95.478484 0 -1 119 0 0 1 0 NM_002203 29 95.514119 26 0.527273 PPFIA1 8500 broad.mit.edu hg19 11 70208475 70208475 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:70208475G>A ENST00000253925.7 + 21 2961 c.2746G>A c.(2746-2748)Gac>Aac p.D916N AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D916N NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 916 SAM 1. cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GGCCCTGTCCGACACAGAGAT 0.617 0 88.0 80.0 82.0 11 70208475 2200 4294 6494 SO:0001583 missense U22816 CCDS31627.1, CCDS31628.1 11q13.3 2013-01-10 ENSG00000131626 ENSG00000131626 """Sterile alpha motif (SAM) domain containing""" 9245 protein-coding gene gene with protein product """Liprin-alpha1""" 611054 7796809, 9624153 Standard NM_003626 Approved LIP.1, LIPRIN uc001opo.3 Q13136 OTTHUMG00000167266 ENST00000253925.7:c.2746G>A 11.37:g.70208475G>A ENSP00000253925:p.Asp916Asn A6NLE3|Q13135|Q14567|Q8N4I2 ENST00000253925.7 37 CCDS31627.1 . . . . . . . . . . G 35 5.514892 0.96402 . . ENSG00000131626 ENST00000253925;ENST00000389547;ENST00000544950 T;T 0.50001 0.76;0.76 5.32 5.32 0.75619 Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1); 0.000000 0.85682 D 0.000000 T 0.69771 0.3148 M 0.70595 2.14 0.80722 D 1 D;D;D 0.89917 1.0;0.995;0.999 D;D;D 0.83275 0.996;0.959;0.932 T 0.73020 -0.4114 10 0.87932 D 0 . 18.9937 0.92804 0.0:0.0:1.0:0.0 . 413;916;916 F5H1G2;Q13136;Q13136-2 .;LIPA1_HUMAN;. N 916;916;413 ENSP00000253925:D916N;ENSP00000374198:D916N ENSP00000253925:D916N D + 1 0 PPFIA1 69886123 1.000000 0.71417 0.946000 0.38457 0.857000 0.48899 9.542000 0.98086 2.488000 0.83962 0.561000 0.74099 GAC PPFIA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000393905.1 5.644673 0 -5 66 0 0 1 0 NM_003626 5 11.876127 38 0.116279 HDLBP 3069 broad.mit.edu hg19 2 242179190 242179190 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:242179190G>A ENST00000391975.1 - 19 2664 c.2437C>T c.(2437-2439)Cgc>Tgc p.R813C HDLBP_ENST00000310931.4_Missense_Mutation_p.R813C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R780C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R813C NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 813 KH 10. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ACGAAGTGGCGGTGGTGCTTG 0.577 0 62.0 58.0 59.0 2 242179190 2203 4300 6503 SO:0001583 missense CCDS2547.1, CCDS58760.1 2q37.3 2008-07-18 2008-07-18 ENSG00000115677 ENSG00000115677 4857 protein-coding gene gene with protein product 142695 """vigilin""" VGL 1318310, 8390966 Standard NM_005336 Approved HBP uc002waz.3 Q00341 OTTHUMG00000133391 ENST00000391975.1:c.2437C>T 2.37:g.242179190G>A ENSP00000375836:p.Arg813Cys B4DTQ2|E7EM71|Q53QU2|Q9UCY3 ENST00000391975.1 37 CCDS2547.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 26.4|26.4 4.734081|4.734081 0.89482|0.89482 .|. .|. ENSG00000115677|ENSG00000115677 ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183 .|T;T;T;T .|0.32753 .|1.44;1.44;1.44;1.44 5.41|5.41 4.53|4.53 0.55603|0.55603 .|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1); .|0.047041 .|0.85682 .|D .|0.000000 T|T 0.60327|0.60327 0.2260|0.2260 M|M 0.86740|0.86740 2.835|2.835 0.80722|0.80722 D|D 1|1 .|D;D .|0.89917 .|1.0;1.0 .|D;D .|0.79784 .|0.993;0.982 T|T 0.69045|0.69045 -0.5249|-0.5249 5|10 .|0.87932 .|D .|0 -23.1174|-23.1174 14.4193|14.4193 0.67173|0.67173 0.0712:0.0:0.9288:0.0|0.0712:0.0:0.9288:0.0 .|. .|780;813 .|E7EM71;Q00341 .|.;VIGLN_HUMAN L|C 621|813;813;813;780 .|ENSP00000375836:R813C;ENSP00000375837:R813C;ENSP00000312042:R813C;ENSP00000399139:R780C .|ENSP00000312042:R813C P|R -|- 2|1 0|0 HDLBP|HDLBP 241827863|241827863 1.000000|1.000000 0.71417|0.71417 0.922000|0.922000 0.36590|0.36590 0.929000|0.929000 0.56500|0.56500 9.699000|9.699000 0.98703|0.98703 1.427000|1.427000 0.47276|0.47276 0.561000|0.561000 0.74099|0.74099 CCG|CGC HDLBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257245.5 10.048807 0 -7 43 0 0 1 0 NM_203346 5 11.568309 17 0.227273 WISP1 8840 broad.mit.edu hg19 8 134225300 134225300 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:134225300C>T ENST00000250160.6 + 2 369 c.263C>T c.(262-264)aCg>aTg p.T88M WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.T88M|WISP1_ENST00000517423.1_Missense_Mutation_p.T88M NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 88 IGFBP N-terminal. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GACAACTGCACGGAGGCTGCC 0.637 0 60.0 60.0 60.0 8 134225300 2203 4300 6503 SO:0001583 missense AF100779 CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1 8q24.22 2007-05-14 ENSG00000104415 ENSG00000104415 12769 protein-coding gene gene with protein product 603398 9843955 Standard NM_003882 Approved CCN4 uc003yub.3 O95388 OTTHUMG00000164440 ENST00000517423.1:c.263C>T 8.37:g.134225300C>T ENSP00000427744:p.Thr88Met A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3 ENST00000517423.1 37 CCDS56555.1 . . . . . . . . . . C 19.33 3.807599 0.70797 . . ENSG00000104415 ENST00000250160;ENST00000517423;ENST00000220856 T;T;T 0.63744 -0.06;-0.06;-0.06 5.13 4.19 0.49359 Insulin-like growth factor-binding protein, IGFBP (3); 0.211578 0.47852 D 0.000217 T 0.75012 0.3792 M 0.64404 1.975 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.77004 0.989;0.938;0.963 T 0.77651 -0.2508 10 0.72032 D 0.01 -21.5098 13.4726 0.61290 0.157:0.843:0.0:0.0 . 88;88;88 E7EMM5;O95388-2;O95388 .;.;WISP1_HUMAN M 88 ENSP00000250160:T88M;ENSP00000427744:T88M;ENSP00000220856:T88M ENSP00000220856:T88M T + 2 0 WISP1 134294482 0.992000 0.36948 1.000000 0.80357 0.927000 0.56198 3.001000 0.49488 2.394000 0.81467 0.549000 0.68633 ACG WISP1-005 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000378797.1 7.447712 0 3 75 0 0 1 0 NM_003882 5 12.942108 35 0.125000 CDK3 1018 broad.mit.edu hg19 17 73999371 73999371 + Silent SNP C C T rs141477491 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:73999371C>T ENST00000425876.2 + 6 772 c.684C>T c.(682-684)ccC>ccT p.P228P CDK3_ENST00000448471.1_Silent_p.P228P|TEN1-CDK3_ENST00000567351.1_RNA Q00526 CDK3_HUMAN cyclin-dependent kinase 3 228 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 ACACATGGCCCGGGGTCACCC 0.562 0 111.0 122.0 118.0 17 73999371 2203 4300 6503 SO:0001819 synonymous_variant X66357 CCDS11736.1 17q25.1 2012-09-20 ENSG00000250506 ENSG00000250506 """Cyclin-dependent kinases""" 1772 protein-coding gene gene with protein product 123828 1639063 Standard NM_001258 Approved uc010dgt.3 Q00526 OTTHUMG00000154861 ENST00000425876.2:c.684C>T 17.37:g.73999371C>T ENST00000425876.2 37 CCDS11736.1 CDK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337389.2 12.088511 0 -32 109 0 0 1 0 NM_001258 10 25.292214 79 0.112360 RGAG4 340526 broad.mit.edu hg19 X 71350832 71350832 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:71350832G>A ENST00000545866.1 - 1 926 c.559C>T c.(559-561)Cgg>Tgg p.R187W RGAG4_ENST00000609883.1_Missense_Mutation_p.R187W|NHSL2_ENST00000540800.1_Intron NM_001024455.3 NP_001019626.1 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 187 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) AAGGCCACCCGCTCGGCGCCC 0.582 0 29.0 31.0 30.0 X 71350832 1875 4088 5963 SO:0001583 missense AB082532 CCDS55446.1 Xq13.1 2008-02-05 ENSG00000242732 ENSG00000242732 29430 protein-coding gene gene with protein product 12056414, 15716091, 16093683 Standard NM_001024455 Approved KIAA2001, Mar5, Mart5 uc004eaj.2 Q5HYW3 OTTHUMG00000021808 ENST00000545866.1:c.559C>T X.37:g.71350832G>A ENSP00000441366:p.Arg187Trp A7E2W7|Q8NCM4|Q9NPX1 ENST00000545866.1 37 CCDS55446.1 . . . . . . . . . . G 15.49 2.848301 0.51164 . . ENSG00000242732 ENST00000545866;ENST00000479991 T;T 0.16597 2.33;2.33 4.37 3.48 0.39840 . . . . . T 0.13415 0.0325 N 0.08118 0 0.09310 N 0.999995 D 0.76494 0.999 P 0.53146 0.719 T 0.13683 -1.0500 8 . . . -2.2816 8.4173 0.32678 0.0:0.0:0.7679:0.2321 . 187 Q5HYW3 RGAG4_HUMAN W 187 ENSP00000441366:R187W;ENSP00000418667:R187W . R - 1 2 RGAG4 71267557 0.992000 0.36948 0.364000 0.25888 0.990000 0.78478 1.515000 0.35845 1.137000 0.42214 0.600000 0.82982 CGG RGAG4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057171.1 5.011071 0 13 65 0 0 1 0 NM_001024455 6 12.839135 47 0.113208 EIF2AK2 5610 broad.mit.edu hg19 2 37349797 37349797 + Missense_Mutation SNP G G A rs3953394 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:37349797G>A ENST00000233057.4 - 12 1241 c.919C>T c.(919-921)Cgt>Tgt p.R307C EIF2AK2_ENST00000405334.1_Missense_Mutation_p.R266C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.R307C NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 307 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) TTTACTTCACGCTCCGCCTTC 0.408 1 138.0 127.0 131.0 2 37349797 2203 4300 6503 SO:0001583 missense BC057805 CCDS1786.1, CCDS46259.1 2p22-p21 2014-06-12 2005-01-19 2005-01-19 ENSG00000055332 ENSG00000055332 9437 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 83""" 176871 """protein kinase, interferon-inducible double stranded RNA dependent""" PRKR 1351683 Standard NM_001135651 Approved PKR, EIF2AK1, PPP1R83 uc010fac.3 P19525 OTTHUMG00000100962 ENST00000233057.4:c.919C>T 2.37:g.37349797G>A ENSP00000233057:p.Arg307Cys A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4 ENST00000233057.4 37 CCDS1786.1 . . . . . . . . . . G 20.1 3.939260 0.73557 . . ENSG00000055332 ENST00000233057;ENST00000395127;ENST00000405334 T;T;T 0.55930 0.49;0.49;0.49 4.82 4.82 0.62117 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.120830 0.37715 N 0.001974 T 0.75910 0.3914 M 0.90922 3.16 0.54753 D 0.999984 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.999;1.0 T 0.80665 -0.1281 10 0.87932 D 0 -13.7913 10.7482 0.46194 0.0899:0.0:0.9101:0.0 . 307;307;266 Q8IW76;P19525;E9PC80 .;E2AK2_HUMAN;. C 307;307;266 ENSP00000233057:R307C;ENSP00000378559:R307C;ENSP00000385014:R266C ENSP00000233057:R307C R - 1 0 EIF2AK2 37203301 0.956000 0.32656 0.917000 0.36280 0.262000 0.26303 4.446000 0.60014 2.388000 0.81334 0.585000 0.79938 CGT EIF2AK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000218571.2 55.344545 0 -12 69 0 0 1 0 NM_002759 18 55.477332 23 0.439024 MFSD5 84975 broad.mit.edu hg19 12 53647517 53647517 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:53647517C>T ENST00000534842.1 + 2 1366 c.1219C>T c.(1219-1221)Cgt>Tgt p.R407C MFSD5_ENST00000329548.4_Missense_Mutation_p.R300C NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 300 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 TTCCCTGTACCGTATCGCCAC 0.567 0 99.0 83.0 88.0 12 53647517 2203 4300 6503 SO:0001583 missense AK097576 CCDS8851.1, CCDS53796.1 12q13.13 2012-03-09 ENSG00000182544 ENSG00000182544 28156 protein-coding gene gene with protein product Standard NM_032889 Approved MGC11308 uc001sch.2 Q6N075 OTTHUMG00000170028 ENST00000329548.4:c.898C>T 12.37:g.53647517C>T ENSP00000332624:p.Arg300Cys G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5 ENST00000329548.4 37 CCDS8851.1 . . . . . . . . . . C 9.754 1.168143 0.21621 . . ENSG00000182544 ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548 T;T 0.80566 -1.39;-1.39 5.04 4.15 0.48705 Major facilitator superfamily domain, general substrate transporter (1); 0.000000 0.85682 D 0.000000 T 0.75228 0.3821 L 0.59436 1.845 0.80722 D 1 B;B 0.30361 0.083;0.277 B;B 0.20767 0.031;0.026 T 0.75010 -0.3468 10 0.72032 D 0.01 -1.6626 12.4044 0.55430 0.0:0.9165:0.0:0.0835 . 300;407 Q6N075;G3V1N7 MFSD5_HUMAN;. C 407;407;407;300 ENSP00000442688:R407C;ENSP00000332624:R300C ENSP00000331231:R407C R + 1 0 MFSD5 51933784 1.000000 0.71417 0.998000 0.56505 0.225000 0.24961 7.564000 0.82326 1.129000 0.42072 -0.258000 0.10820 CGT MFSD5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406896.1 1.969788 0 -4 53 0 0 1 0 NM_032889 4 8.365446 36 0.100000 DCAF12 25853 broad.mit.edu hg19 9 34093293 34093293 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:34093293G>A ENST00000361264.4 - 7 1356 c.1015C>T c.(1015-1017)Cga>Tga p.R339* RP11-537H15.3_ENST00000448245.1_RNA NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 339 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 CCACTGCCTCGCTCCCTGGAA 0.502 0 148.0 125.0 133.0 9 34093293 2203 4300 6503 SO:0001587 stop_gained AB067479 CCDS6549.1 9p11.2 2013-01-09 2009-07-17 2009-07-17 ENSG00000198876 ENSG00000198876 """WD repeat domain containing"", ""DDB1 and CUL4 associated factors""" 19911 protein-coding gene gene with protein product """cancer/testis antigen 102""" """KIAA1892"", ""WD repeat domain 40A""" KIAA1892, WDR40A 11572484, 9110174 Standard NM_015397 Approved DKFZP434O125, MGC1058, CT102, TCC52 uc003ztt.2 Q5T6F0 OTTHUMG00000019806 ENST00000361264.4:c.1015C>T 9.37:g.34093293G>A ENSP00000355114:p.Arg339* A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1 ENST00000361264.4 37 CCDS6549.1 . . . . . . . . . . G 40 8.439080 0.98813 . . ENSG00000198876 ENST00000361264 . . . 5.75 2.8 0.32819 . 0.124867 0.53938 D 0.000043 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.13108 T 0.6 -23.3755 14.8729 0.70471 0.0:0.0:0.6244:0.3756 . . . . X 339 . ENSP00000355114:R339X R - 1 2 DCAF12 34083293 1.000000 0.71417 0.996000 0.52242 0.996000 0.88848 1.577000 0.36515 0.305000 0.22832 0.655000 0.94253 CGA DCAF12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052133.2 65.368894 0 6 68 0 0 1 0 NM_015397 21 65.586567 28 0.428571 CLEC18B 497190 broad.mit.edu hg19 16 74452059 74452059 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:74452059C>T ENST00000339953.5 - 3 475 c.354G>A c.(352-354)gcG>gcA p.A118A NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 118 SCP. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAACAAAGGACGCCAAGCCCG 0.667 0 57.0 62.0 60.0 16 74452059 2108 4213 6321 SO:0001819 synonymous_variant AY358373 CCDS32484.1 16q22.3 2010-04-27 2009-03-10 2009-03-10 ENSG00000140839 """C-type lectin domain containing""" 33849 protein-coding gene gene with protein product Standard NM_001011880 Approved uc002fct.3 Q6UXF7 ENST00000339953.5:c.354G>A 16.37:g.74452059C>T B4DF90 ENST00000339953.5 37 CCDS32484.1 CLEC18B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434697.1 28.840616 0 15 34 0 0 1 0 NM_001011880 10 29.457562 19 0.344828 TBL2 26608 broad.mit.edu hg19 7 72988286 72988286 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:72988286C>T ENST00000305632.5 - 3 669 c.428G>A c.(427-429)cGc>cAc p.R143H TBL2_ENST00000452475.1_Missense_Mutation_p.R143H|TBL2_ENST00000432538.1_Missense_Mutation_p.R107H|TBL2_ENST00000459913.1_5'UTR NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 143 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) AGGGCTGAAGCGCACCAGGGT 0.607 0 103.0 81.0 88.0 7 72988286 2203 4300 6503 SO:0001583 missense AF056183 CCDS5551.1 7q11.23 2013-01-10 ENSG00000106638 ENSG00000106638 """WD repeat domain containing""" 11586 protein-coding gene gene with protein product """Williams-Beuren syndrome chromosome region 13""" 605842 9860302, 10575226 Standard XM_006715923 Approved WS-betaTRP, WBSCR13, DKFZP43N024 uc003tyh.3 Q9Y4P3 OTTHUMG00000023427 ENST00000305632.5:c.428G>A 7.37:g.72988286C>T ENSP00000307260:p.Arg143His Q9UQE2 ENST00000305632.5 37 CCDS5551.1 . . . . . . . . . . C 29.5 5.011512 0.93346 4.54E-4 0.0 ENSG00000106638 ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475 T;T;T 0.30182 1.54;1.54;1.54 5.3 5.3 0.74995 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.53965 0.1829 M 0.71581 2.175 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.67382 0.951;0.951 T 0.54009 -0.8357 10 0.49607 T 0.09 -22.0223 16.4333 0.83861 0.0:1.0:0.0:0.0 . 107;143 E9PF19;Q9Y4P3 .;TBL2_HUMAN H 143;143;107;143 ENSP00000307260:R143H;ENSP00000413979:R107H;ENSP00000407371:R143H ENSP00000307260:R143H R - 2 0 TBL2 72626222 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.716000 0.84723 2.491000 0.84063 0.561000 0.74099 CGC TBL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252233.3 91.442470 0 9 96 0 0 1 0 NM_012453 30 91.601573 37 0.447761 GPR124 25960 broad.mit.edu hg19 8 37698635 37698635 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:37698635G>A ENST00000315215.7 + 16 2491 c.2128G>A c.(2128-2130)Gcc>Acc p.A710T GPR124_ENST00000412232.2_Missense_Mutation_p.A927T Q96PE1 GP124_HUMAN G protein-coupled receptor 124 927 GPS. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AAGCCTTGGCGCCTTCTACAT 0.627 0 107.0 116.0 113.0 8 37698635 2203 4300 6503 SO:0001583 missense AB040964 CCDS6097.2 8p11.22 2014-08-08 ENSG00000020181 ENSG00000020181 """-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 17849 protein-coding gene gene with protein product """tumor endothelial marker 5""" 606823 11559528, 12565841 Standard NM_032777 Approved TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390 uc003xkj.3 Q96PE1 OTTHUMG00000156182 ENST00000412232.2:c.2779G>A 8.37:g.37698635G>A ENSP00000406367:p.Ala927Thr A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4 ENST00000412232.2 37 CCDS6097.2 . . . . . . . . . . G 24.8 4.568480 0.86439 . . ENSG00000020181 ENST00000416514;ENST00000315215;ENST00000412232 T;T 0.44482 0.92;0.92 4.67 4.67 0.58626 GPCR, family 2-like (1); 0.062185 0.64402 D 0.000004 T 0.69015 0.3064 M 0.86573 2.825 0.58432 D 0.999999 D;D 0.89917 1.0;0.999 D;D 0.69142 0.962;0.919 T 0.77038 -0.2736 10 0.87932 D 0 -27.2058 17.575 0.87946 0.0:0.0:1.0:0.0 . 710;927 Q96PE1-2;Q96PE1 .;GP124_HUMAN T 920;710;927 ENSP00000323508:A710T;ENSP00000406367:A927T ENSP00000323508:A710T A + 1 0 GPR124 37817793 1.000000 0.71417 0.986000 0.45419 0.910000 0.53928 5.357000 0.66058 2.138000 0.66242 0.655000 0.94253 GCC GPR124-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000343331.2 0.357890 0 -17 127 0 0 1 0 7 15.707095 79 0.081395 SLC22A14 9389 broad.mit.edu hg19 3 38355294 38355294 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:38355294G>A ENST00000273173.4 + 7 1331 c.1240G>A c.(1240-1242)Gtg>Atg p.V414M SLC22A14_ENST00000448498.1_Missense_Mutation_p.V414M NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 414 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CTTCAGACACGTGGTCCCCAG 0.567 0 136.0 129.0 131.0 3 38355294 2203 4300 6503 SO:0001583 missense AB011082 CCDS2677.1 3p21.3 2013-05-22 2008-01-11 2003-10-15 ENSG00000144671 ENSG00000144671 """Solute carriers""" 8495 protein-coding gene gene with protein product 604048 """organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14""" ORCTL4 10072596 Standard NM_004803 Approved OCTL2 uc003cib.2 Q9Y267 OTTHUMG00000131082 ENST00000273173.4:c.1240G>A 3.37:g.38355294G>A ENSP00000273173:p.Val414Met A0AVS9|A1L4H6|B2RCX3|Q6DJT3 ENST00000273173.4 37 CCDS2677.1 . . . . . . . . . . g 7.256 0.604299 0.14002 . . ENSG00000144671 ENST00000448498;ENST00000423219;ENST00000273173 T;T 0.75821 -0.97;-0.97 4.27 -8.54 0.00912 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 1.724340 0.03222 N 0.177768 T 0.57125 0.2032 L 0.43152 1.355 0.09310 N 1 P 0.38677 0.642 B 0.36378 0.223 T 0.55667 -0.8105 10 0.36615 T 0.2 . 1.2618 0.02003 0.4288:0.2274:0.1624:0.1814 . 414 Q9Y267 S22AE_HUMAN M 414 ENSP00000396283:V414M;ENSP00000273173:V414M ENSP00000273173:V414M V + 1 0 SLC22A14 38330298 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.731000 0.01853 -2.154000 0.00792 -1.501000 0.00957 GTG SLC22A14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253742.3 140.144586 0 2 113 0 0 1 0 NM_004803 38 141.805230 1 0.974359 SCAMP5 192683 broad.mit.edu hg19 15 75310786 75310786 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:75310786C>T ENST00000361900.6 + 7 630 c.423C>T c.(421-423)ttC>ttT p.F141F SCAMP5_ENST00000562212.1_Silent_p.F149F|SCAMP5_ENST00000425597.3_Silent_p.F141F|SCAMP5_ENST00000568081.1_Silent_p.F74F|SCAMP5_ENST00000545456.1_Silent_p.F70F NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 141 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 TCTCCTTCTTCGGAACGAACA 0.587 0 148.0 138.0 141.0 15 75310786 2013 4177 6190 SO:0001819 synonymous_variant AL833230 CCDS45306.1 15q24.2 2014-05-20 ENSG00000198794 ENSG00000198794 """Secretory carrier membrane proteins""" 30386 protein-coding gene gene with protein product 613766 12477932 Standard NM_001178111 Approved MGC24969 uc002azk.2 Q8TAC9 OTTHUMG00000172704 ENST00000361900.6:c.423C>T 15.37:g.75310786C>T B3KPJ7|B7Z762|D3DW71|Q8N3M4 ENST00000361900.6 37 CCDS45306.1 SCAMP5-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000420015.2 55.965165 0 -38 167 0 0 1 0 NM_138967 26 69.139667 115 0.184397 DIDO1 11083 broad.mit.edu hg19 20 61511261 61511261 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:61511261G>A ENST00000266070.4 - 16 6372 c.6047C>T c.(6046-6048)cCg>cTg p.P2016L DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2016 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CATCACCTGCGGGGCCTGGCC 0.687 0 36.0 47.0 44.0 20 61511261 2177 4264 6441 SO:0001583 missense AB002331 CCDS13508.2, CCDS13509.1, CCDS33506.1 20q13.33 2013-01-28 2005-11-11 2005-11-11 ENSG00000101191 ENSG00000101191 """Zinc fingers, PHD-type""" 2680 protein-coding gene gene with protein product 604140 """chromosome 20 open reading frame 158"", ""death associated transcription factor 1""" C20orf158, DATF1 10393935 Standard NM_033081 Approved DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1 uc002ydr.2 Q9BTC0 OTTHUMG00000032945 ENST00000266070.4:c.6047C>T 20.37:g.61511261G>A ENSP00000266070:p.Pro2016Leu A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6 ENST00000266070.4 37 CCDS33506.1 . . . . . . . . . . G 8.112 0.778986 0.16120 . . ENSG00000101191 ENST00000266070;ENST00000395343 T;T 0.09255 3.0;3.0 4.94 3.92 0.45320 . 1.080270 0.07312 N 0.876107 T 0.09512 0.0234 L 0.36672 1.1 0.19300 N 0.99998 P 0.50819 0.939 B 0.34242 0.178 T 0.28299 -1.0048 10 0.62326 D 0.03 -1.6771 12.2577 0.54633 0.0:0.0:0.7274:0.2726 . 2016 Q9BTC0 DIDO1_HUMAN L 2016 ENSP00000266070:P2016L;ENSP00000378752:P2016L ENSP00000266070:P2016L P - 2 0 DIDO1 60981706 0.822000 0.29219 0.029000 0.17559 0.088000 0.18126 2.359000 0.44142 2.277000 0.76020 0.561000 0.74099 CCG DIDO1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000080091.2 96.015998 0 -8 120 0 0 1 0 NM_080796 31 96.376796 42 0.424658 DNAH7 56171 broad.mit.edu hg19 2 196788444 196788444 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:196788444C>T ENST00000312428.6 - 23 3800 c.3700G>A c.(3700-3702)Gta>Ata p.V1234I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1234 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CCCAGAGTTACGCGATTCTGC 0.398 1 122.0 113.0 116.0 2 196788444 1972 4163 6135 SO:0001583 missense AF327442 CCDS42794.1 2q33.1 2013-01-10 2006-09-04 ENSG00000118997 ENSG00000118997 """Axonemal dyneins"", ""EF-hand domain containing""" 18661 protein-coding gene gene with protein product 610061 """dynein, axonemal, heavy polypeptide 7""" 9373155, 11877439 Standard NM_018897 Approved KIAA0944 uc002utj.4 Q8WXX0 OTTHUMG00000154438 ENST00000312428.6:c.3700G>A 2.37:g.196788444C>T ENSP00000311273:p.Val1234Ile B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3 ENST00000312428.6 37 CCDS42794.1 . . . . . . . . . . C 1.908 -0.451426 0.04572 . . ENSG00000118997 ENST00000312428 T 0.54675 0.56 5.03 5.03 0.67393 . 0.000000 0.64402 D 0.000001 T 0.31040 0.0784 N 0.05330 -0.07 0.80722 D 1 B 0.20780 0.048 B 0.14578 0.011 T 0.26815 -1.0092 10 0.02654 T 1 . 18.7284 0.91724 0.0:1.0:0.0:0.0 . 1234 Q8WXX0 DYH7_HUMAN I 1234 ENSP00000311273:V1234I ENSP00000311273:V1234I V - 1 0 DNAH7 196496689 1.000000 0.71417 0.995000 0.50966 0.235000 0.25334 5.690000 0.68241 2.494000 0.84150 0.655000 0.94253 GTA DNAH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335202.3 27.965860 0 -32 56 0 0 1 0 NM_018897 12 33.192080 49 0.196721 MUC16 94025 broad.mit.edu hg19 19 9091523 9091523 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:9091523C>T ENST00000397910.4 - 1 495 c.292G>A c.(292-294)Gag>Aag p.E98K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 98 Thr-rich. 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 GTTCTTTGCTCGGAGTGTGTC 0.542 0 137.0 134.0 135.0 19 9091523 1982 4166 6148 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.292G>A 19.37:g.9091523C>T ENSP00000381008:p.Glu98Lys Q6ZQW5|Q96RK2 ENST00000397910.4 37 CCDS54212.1 . . . . . . . . . . c 5.368 0.253081 0.10185 . . ENSG00000181143 ENST00000397910 T 0.02682 4.2 1.01 -0.119 0.13543 . . . . . T 0.01489 0.0048 N 0.08118 0 . . . B 0.27679 0.185 B 0.14023 0.01 T 0.44112 -0.9349 8 0.87932 D 0 . 3.4185 0.07385 0.0:0.7053:0.0:0.2947 . 98 B5ME49 . K 98 ENSP00000381008:E98K ENSP00000381008:E98K E - 1 0 MUC16 8952523 0.000000 0.05858 0.000000 0.03702 0.179000 0.23085 -1.277000 0.02812 0.010000 0.14839 0.313000 0.20887 GAG MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402806.1 -5.653190 0 7 97 0 0 1 0 NM_024690 4 8.480014 65 0.057971 MBTPS2 51360 broad.mit.edu hg19 X 21886609 21886609 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:21886609C>T ENST00000365779.2 + 6 776 c.695C>T c.(694-696)gCa>gTa p.A232V MBTPS2_ENST00000379484.5_Missense_Mutation_p.A232V O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 232 cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 TTTGTCCTTGCACTCTTGGGT 0.433 0 348.0 321.0 330.0 X 21886609 2203 4300 6503 SO:0001583 missense AF019612 CCDS14201.1 Xp22.12-p22.11 2014-02-03 2005-08-17 ENSG00000012174 ENSG00000012174 15455 protein-coding gene gene with protein product 300294 """membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans""" KFSD 9847074, 9659902, 20672378 Standard NM_015884 Approved S2P uc004dae.3 O43462 OTTHUMG00000021237 ENST00000379484.5:c.695C>T X.37:g.21886609C>T ENSP00000368798:p.Ala232Val Q9UM70|Q9UMD3 ENST00000379484.5 37 CCDS14201.1 . . . . . . . . . . C 14.92 2.677965 0.47886 . . ENSG00000012174 ENST00000379484;ENST00000365779 D;D 0.94576 -3.46;-3.46 5.78 4.91 0.64330 Peptidase M50 (1); 0.101073 0.64402 D 0.000002 D 0.91513 0.7320 L 0.49640 1.575 0.40838 D 0.983649 B;B 0.27932 0.062;0.194 B;B 0.26202 0.023;0.067 D 0.89855 0.4012 10 0.45353 T 0.12 -18.5893 12.1482 0.54036 0.0:0.5354:0.4646:0.0 . 232;232 O43462;B9ZVQ3 MBTP2_HUMAN;. V 232 ENSP00000368798:A232V;ENSP00000368796:A232V ENSP00000368796:A232V A + 2 0 MBTPS2 21796530 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 5.020000 0.64066 2.433000 0.82419 0.544000 0.68410 GCA MBTPS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056026.1 -25.587769 0 -65 256 0 0 1 0 6 11.181034 153 0.037736 E2F7 144455 broad.mit.edu hg19 12 77417851 77417851 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:77417851G>A ENST00000322886.7 - 13 2915 c.2680C>T c.(2680-2682)Cga>Tga p.R894* E2F7_ENST00000416496.2_3'UTR NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 894 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CTGGTGTTTCGTGACTGGTTC 0.587 0 132.0 131.0 131.0 12 77417851 2203 4300 6503 SO:0001587 stop_gained BC016658 CCDS9016.1 12q21.1 2008-02-05 ENSG00000165891 23820 protein-coding gene gene with protein product 612046 12893818 Standard NM_203394 Approved uc001sym.4 Q96AV8 OTTHUMG00000169969 ENST00000322886.7:c.2680C>T 12.37:g.77417851G>A ENSP00000323246:p.Arg894* A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9 ENST00000322886.7 37 CCDS9016.1 . . . . . . . . . . G 41 8.653156 0.98901 . . ENSG00000165891 ENST00000322886;ENST00000339887 . . . 6.17 4.19 0.49359 . 0.208419 0.37761 N 0.001945 . . . . . . 0.31184 N 0.701703 . . . . . . . . . . 0.02654 T 1 -8.6583 11.7552 0.51872 0.0:0.0:0.5586:0.4414 . . . . X 894;365 . ENSP00000323246:R894X R - 1 2 E2F7 75941982 0.993000 0.37304 0.444000 0.26895 0.725000 0.41563 2.762000 0.47597 1.600000 0.50102 0.655000 0.94253 CGA E2F7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406716.1 58.359501 0 -14 134 0 0 1 0 XM_084871 22 62.470426 61 0.265060 PRRC2A 7916 broad.mit.edu hg19 6 31593371 31593371 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:31593371G>A ENST00000376033.2 + 7 976 c.742G>A c.(742-744)Gga>Aga p.G248R PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.G248R NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 248 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TCCCTACCGCGGAATGATGCC 0.557 1 91.0 88.0 89.0 6 31593371 2203 4300 6503 SO:0001583 missense M31293 CCDS4708.1 6p21.3 2010-12-09 2010-12-09 2010-12-09 ENSG00000204469 ENSG00000204469 13918 protein-coding gene gene with protein product 142580 """HLA-B associated transcript 2""" BAT2 2156268, 8499947 Standard NM_080686 Approved G2, D6S51E uc003nvc.4 P48634 OTTHUMG00000031168 ENST00000376033.2:c.742G>A 6.37:g.31593371G>A ENSP00000365201:p.Gly248Arg B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6 ENST00000376033.2 37 CCDS4708.1 . . . . . . . . . . G 14.61 2.587932 0.46110 . . ENSG00000204469 ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033 T;T 0.01871 4.59;4.59 5.06 5.06 0.68205 . 0.000000 0.50627 D 0.000108 T 0.06050 0.0157 L 0.50333 1.59 0.58432 D 0.999997 D 0.89917 1.0 D 0.77004 0.989 T 0.29731 -1.0002 10 0.87932 D 0 -9.9248 17.3477 0.87314 0.0:0.0:1.0:0.0 . 248 P48634 PRC2A_HUMAN R 248 ENSP00000365175:G248R;ENSP00000365201:G248R ENSP00000365175:G248R G + 1 0 PRRC2A 31701350 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 8.223000 0.89779 2.628000 0.89032 0.655000 0.94253 GGA PRRC2A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259319.1 52.403261 0 -3 53 0 0 1 0 NM_080686 16 52.470917 13 0.551724 ESPNP 0 broad.mit.edu hg19 1 17023064 17023064 + RNA SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:17023064C>T ENST00000492551.1 - 0 1799 NR_026567.1 GCACCCCCGGCGCAGGAGTAG 0.677 0 AL035288 1p36.13 2013-05-22 ENSG00000268869 ENSG00000268869 23285 pseudogene pseudogene 15286153 Standard NR_026567 Approved uc001azn.1 OTTHUMG00000000803 1.37:g.17023064C>T ENST00000492551.1 37 ESPNP-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000326311.1 5.113285 0 -1 24 0 0 1 0 3 6.793015 14 0.176471 PDE6B 5158 broad.mit.edu hg19 4 647752 647752 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:647752G>A ENST00000255622.6 + 4 866 c.823G>A c.(823-825)Gtg>Atg p.V275M PDE6B_ENST00000429163.2_5'UTR|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.V275M|RP11-1191J2.2_ENST00000468356.1_RNA NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 275 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GCGGTACTCCGTGGGCCTCCT 0.647 0 93.0 79.0 84.0 4 647752 2203 4300 6503 SO:0001583 missense BC000249 CCDS33932.1, CCDS46993.1, CCDS54703.1 4p16.3 2014-01-28 2008-07-31 ENSG00000133256 ENSG00000133256 """Phosphodiesterases""" 8786 protein-coding gene gene with protein product """congenital stationary night blindness 3, autosomal dominant""" 180072 PDEB 1313787 Standard NM_001145292 Approved CSNB3, rd1, RP40, CSNBAD2 uc003gap.3 P35913 OTTHUMG00000159909 ENST00000496514.1:c.823G>A 4.37:g.647752G>A ENSP00000420295:p.Val275Met B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49 ENST00000496514.1 37 CCDS33932.1 . . . . . . . . . . G 18.68 3.674935 0.67928 . . ENSG00000133256 ENST00000255622;ENST00000496514 T;T 0.72167 -0.63;-0.63 5.26 5.26 0.73747 GAF (2); 0.000000 0.85682 D 0.000000 D 0.85986 0.5825 M 0.87547 2.89 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.78314 0.991;0.985 D 0.88489 0.3074 10 0.87932 D 0 . 16.3608 0.83267 0.0:0.0:1.0:0.0 . 275;275 P35913;P35913-2 PDE6B_HUMAN;. M 275 ENSP00000255622:V275M;ENSP00000420295:V275M ENSP00000255622:V275M V + 1 0 PDE6B 637752 1.000000 0.71417 0.945000 0.38365 0.059000 0.15707 9.447000 0.97595 2.449000 0.82847 0.561000 0.74099 GTG PDE6B-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000358109.1 15.137316 0 -23 58 0 0 1 0 NM_000283 6 16.863703 20 0.230769 NLRP4 147945 broad.mit.edu hg19 19 56369494 56369494 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:56369494G>A ENST00000301295.6 + 3 1157 c.735G>A c.(733-735)tcG>tcA p.S245S NLRP4_ENST00000587891.1_Silent_p.S170S|NLRP4_ENST00000346986.5_Silent_p.S245S NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 245 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AACCCGATTCGGATCTGTGTG 0.562 0 80.0 84.0 82.0 19 56369494 2203 4300 6503 SO:0001819 synonymous_variant AF479747 CCDS12936.1 19q13.43 2009-03-27 2006-12-08 2006-12-08 """Nucleotide-binding domain and leucine rich repeat containing""" 22943 protein-coding gene gene with protein product """nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58""" 609645 """NACHT, leucine rich repeat and PYD containing 4""" NALP4 12563287, 12019269 Standard NM_134444 Approved PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58 uc002qmd.4 Q96MN2 ENST00000301295.6:c.735G>A 19.37:g.56369494G>A Q86W87|Q96AY6 ENST00000301295.6 37 CCDS12936.1 NLRP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457367.2 82.952827 0 -4 101 0 0 1 0 NM_134444 26 83.014015 30 0.464286 CCAR1 55749 broad.mit.edu hg19 10 70516034 70516034 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:70516034C>T ENST00000265872.6 + 14 1749 c.1630C>T c.(1630-1632)Cgt>Tgt p.R544C CCAR1_ENST00000543719.1_Missense_Mutation_p.R529C|CCAR1_ENST00000535016.1_Missense_Mutation_p.R529C|CCAR1_ENST00000483264.1_3'UTR NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 544 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 CAACAGGTACCGTTTTGCAGA 0.423 0 106.0 103.0 104.0 10 70516034 2203 4300 6503 SO:0001583 missense AY249140 CCDS7282.1, CCDS60547.1 10q22.1 2004-02-19 ENSG00000060339 ENSG00000060339 24236 protein-coding gene gene with protein product 612569 12816952 Standard NM_018237 Approved FLJ10590, CARP-1, CARP1 uc001joo.3 Q8IX12 OTTHUMG00000018361 ENST00000265872.6:c.1630C>T 10.37:g.70516034C>T ENSP00000265872:p.Arg544Cys A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6 ENST00000265872.6 37 CCDS7282.1 . . . . . . . . . . C 14.43 2.533655 0.45073 . . ENSG00000060339 ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012 T;T;T;T;T;T 0.51817 0.69;0.69;0.69;0.69;0.69;0.69 5.38 5.38 0.77491 . 0.000000 0.85682 D 0.000000 T 0.73776 0.3630 M 0.85373 2.75 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.87578 0.994;0.998;0.992 T 0.78316 -0.2251 10 0.87932 D 0 -4.7661 19.1212 0.93364 0.0:1.0:0.0:0.0 . 529;544;518 Q8IX12-2;Q8IX12;F5H2E6 .;CCAR1_HUMAN;. C 544;529;529;529;518;349 ENSP00000265872:R544C;ENSP00000441820:R529C;ENSP00000445254:R529C;ENSP00000439252:R529C;ENSP00000438610:R518C;ENSP00000439642:R349C ENSP00000265872:R544C R + 1 0 CCAR1 70186040 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.725000 0.84808 2.533000 0.85409 0.585000 0.79938 CGT CCAR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000048356.2 3.303783 0 21 57 0 0 1 0 NM_018237 3 7.591851 25 0.107143 SPG7 6687 broad.mit.edu hg19 16 89614493 89614493 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:89614493C>T ENST00000268704.2 + 12 1650 c.1635C>T c.(1633-1635)ttC>ttT p.F545F NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 545 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CTCTCAACTTCGAGTACGCCG 0.627 0 97.0 87.0 90.0 16 89614493 2198 4300 6498 SO:0001819 synonymous_variant Y16610 CCDS10977.1, CCDS10978.1 16q24.3 2010-04-21 2007-04-23 ENSG00000197912 ENSG00000197912 """ATPases / AAA-type""" 11237 protein-coding gene gene with protein product """paraplegin""" 602783 """cell matrix adhesion regulator""" CMAR 9635427, 9634528 Standard XM_006721264 Approved CAR, SPG5C uc002fnj.3 Q9UQ90 OTTHUMG00000138046 ENST00000268704.2:c.1635C>T 16.37:g.89614493C>T O75756|Q2TB70|Q58F00|Q96IB0 ENST00000268704.2 37 CCDS10977.1 . . . . . . . . . . C 9.278 1.047297 0.19827 . . ENSG00000197912 ENST00000312613 . . . 5.47 -5.4 0.02656 . . . . . T 0.66036 0.2749 . . . 0.80722 D 1 . . . . . . T 0.71922 -0.4446 5 0.87932 D 0 -0.0792 10.9495 0.47321 0.0:0.1874:0.0991:0.7135 . . . . L 20 . ENSP00000310320:S20L S + 2 0 SPG7 88141994 0.084000 0.21492 0.873000 0.34254 0.599000 0.36880 -0.747000 0.04823 -0.750000 0.04740 0.561000 0.74099 TCG SPG7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269921.2 33.314643 0 -20 81 0 0 1 0 NM_003119 14 38.766676 54 0.205882 ZCCHC2 54877 broad.mit.edu hg19 18 60242302 60242302 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:60242302C>T ENST00000269499.5 + 13 3406 c.2988C>T c.(2986-2988)aaC>aaT p.N996N ZCCHC2_ENST00000586834.1_Silent_p.N675N NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 996 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GGAACACGAACGCTAATGGGA 0.597 0 80.0 88.0 86.0 18 60242302 2149 4251 6400 SO:0001819 synonymous_variant AB051531 CCDS45880.1 18q21.33 2012-04-19 ENSG00000141664 ENSG00000141664 """Zinc fingers, CCHC domain containing""" 22916 protein-coding gene gene with protein product """chromosome 18 open reading frame 49""" C18orf49 11214970 Standard NM_017742 Approved FLJ20281, KIAA1744, FLJ20222 uc002lip.4 Q9C0B9 ENST00000269499.5:c.2988C>T 18.37:g.60242302C>T B2RPG6|Q8N3S1|Q9NXF6 ENST00000269499.5 37 CCDS45880.1 ZCCHC2-005 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000450083.1 9.589140 0 -16 26 0 0 1 0 NM_017742 4 11.062169 15 0.210526 SLC6A9 6536 broad.mit.edu hg19 1 44463572 44463572 + Silent SNP G G A rs145370858 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:44463572G>A ENST00000372310.3 - 13 1827 c.1662C>T c.(1660-1662)taC>taT p.Y554Y SLC6A9_ENST00000360584.2_Silent_p.Y627Y|SLC6A9_ENST00000475075.2_Silent_p.Y443Y|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.Y573Y NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 627 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GGAACATGGCGTAGAGGGGGA 0.637 0 112.0 111.0 111.0 1 44463572 2203 4300 6503 SO:0001819 synonymous_variant S70609 CCDS30695.1, CCDS41316.1, CCDS41317.1 1p33 2013-05-22 ENSG00000196517 ENSG00000196517 """Solute carriers""" 11056 protein-coding gene gene with protein product 601019 8183239, 7587377 Standard NM_006934 Approved GLYT1 uc001cll.4 P48067 OTTHUMG00000008294 ENST00000372310.3:c.1662C>T 1.37:g.44463572G>A A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0 ENST00000372310.3 37 CCDS30695.1 SLC6A9-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000022827.1 8.388036 0 -2 44 0 0 1 0 NM_201649 4 10.062871 16 0.200000 LPA 4018 broad.mit.edu hg19 6 161027540 161027540 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:161027540C>T ENST00000447678.1 - 18 2874 c.2754G>A c.(2752-2754)ccG>ccA p.P918P LPA_ENST00000316300.5_Silent_p.P918P NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3426 Kringle 8. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GGCTTGGAATCGGGGTAATAG 0.527 0 95.0 97.0 96.0 6 161027540 1979 4213 6192 SO:0001819 synonymous_variant X06290 CCDS43523.1 6q25-q26 2012-10-02 ENSG00000198670 ENSG00000198670 6667 protein-coding gene gene with protein product 152200 LP 3670400 Standard NM_005577 Approved uc003qtl.3 P08519 OTTHUMG00000015956 ENST00000316300.5:c.2754G>A 6.37:g.161027540C>T Q5VTD7|Q9UD88 ENST00000316300.5 37 CCDS43523.1 LPA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042957.1 -12.178249 0 10 138 0 0 1 0 NM_005577 4 7.808217 86 0.044444 ZNF546 339327 broad.mit.edu hg19 19 40521032 40521032 + Nonsense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:40521032C>T ENST00000347077.4 + 7 2071 c.1855C>T c.(1855-1857)Cga>Tga p.R619* ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Nonsense_Mutation_p.R593* NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 619 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GAAAGCCTTTCGATTTCAAAC 0.358 0 45.0 48.0 47.0 19 40521032 2203 4300 6503 SO:0001587 stop_gained BC045649 CCDS12548.1 19q13.2 2013-01-08 ENSG00000187187 """Zinc fingers, C2H2-type"", ""-""" 28671 protein-coding gene gene with protein product ZNF49 12477932 Standard XM_005258853 Approved MGC43537 uc002oms.2 Q86UE3 ENST00000347077.4:c.1855C>T 19.37:g.40521032C>T ENSP00000339823:p.Arg619* A8K913 ENST00000347077.4 37 CCDS12548.1 . . . . . . . . . . c 37 6.084811 0.97267 . . ENSG00000187187 ENST00000347077;ENST00000392042 . . . 2.91 -0.341 0.12639 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.10636 T 0.68 . 6.3833 0.21546 0.326:0.5006:0.1734:0.0 . . . . X 619;228 . ENSP00000339823:R619X R + 1 2 ZNF546 45212872 0.000000 0.05858 0.100000 0.21137 0.971000 0.66376 -2.524000 0.00948 0.004000 0.14682 0.591000 0.81541 CGA ZNF546-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462495.2 23.793081 0 -9 40 0 0 1 0 NM_178544 8 24.263182 15 0.347826 TRAF3 7187 broad.mit.edu hg19 14 103371684 103371684 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:103371684G>A ENST00000560371.1 + 11 1487 c.1270G>A c.(1270-1272)Gac>Aac p.D424N TRAF3_ENST00000392745.2_Missense_Mutation_p.D424N|TRAF3_ENST00000351691.5_Missense_Mutation_p.D399N|TRAF3_ENST00000347662.4_Missense_Mutation_p.D399N|TRAF3_ENST00000539721.1_Missense_Mutation_p.D341N NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 424 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) GAAGATTCGCGACTACAAGCG 0.567 0 108.0 99.0 102.0 14 103371684 2203 4300 6503 SO:0001583 missense U21092 CCDS9975.1, CCDS9976.1, CCDS55946.1 14q32.32 2014-09-17 ENSG00000131323 12033 protein-coding gene gene with protein product 601896 7530216, 7859281 Standard NM_145725 Approved CAP-1, CD40bp, CRAF1, LAP1 uc001ymd.2 Q13114 ENST00000560371.1:c.1270G>A 14.37:g.103371684G>A ENSP00000454207:p.Asp424Asn B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1 ENST00000560371.1 37 CCDS9975.1 . . . . . . . . . . G 22.1 4.242048 0.79912 . . ENSG00000131323 ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721 T;T;T 0.36157 1.27;1.27;1.27 5.45 5.45 0.79879 TRAF-type (1);TRAF-like (1);MATH (3); 0.000000 0.85682 D 0.000000 T 0.43389 0.1245 N 0.21282 0.65 0.80722 D 1 D;D;D 0.71674 0.998;0.976;0.997 P;P;P 0.60286 0.871;0.5;0.872 T 0.15578 -1.0432 10 0.23891 T 0.37 -32.0079 19.3058 0.94163 0.0:0.0:1.0:0.0 . 341;399;424 Q13114-2;A6NHG8;Q13114 .;.;TRAF3_HUMAN N 424;399;424;341 ENSP00000376500:D424N;ENSP00000328003:D399N;ENSP00000445998:D341N ENSP00000328003:D399N D + 1 0 TRAF3 102441437 1.000000 0.71417 0.259000 0.24435 0.579000 0.36224 9.869000 0.99810 2.558000 0.86282 0.655000 0.94253 GAC TRAF3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415735.1 5.111844 0 4 57 0 0 1 0 NM_145725 3 7.460747 17 0.150000 STK11IP 114790 broad.mit.edu hg19 2 220473354 220473354 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:220473354C>T ENST00000456909.1 + 15 1743 c.1653C>T c.(1651-1653)ggC>ggT p.G551G STK11IP_ENST00000295641.10_Silent_p.G562G Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 562 Glu-rich. protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCCTGAGGGCGTACGGGGCA 0.602 0 51.0 56.0 54.0 2 220473354 1991 4145 6136 SO:0001819 synonymous_variant AF450267 CCDS46521.1 2q35 2008-06-03 ENSG00000144589 ENSG00000144589 19184 protein-coding gene gene with protein product """LKB1 interacting protein""" 607172 11741830 Standard NM_052902 Approved LIP1, KIAA1898, LKB1IP, STK11IP1 uc002vml.3 Q8N1F8 OTTHUMG00000059239 ENST00000456909.1:c.1653C>T 2.37:g.220473354C>T Q8NAW9|Q8WXE4|Q96CN3|Q96PY9 ENST00000456909.1 37 STK11IP-001 NOVEL basic|appris_principal protein_coding protein_coding OTTHUMT00000131432.1 19.884480 0 -10 53 0 0 1 0 NM_052902 8 21.041074 20 0.285714 SHROOM1 134549 broad.mit.edu hg19 5 132158676 132158676 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:132158676C>T ENST00000378679.3 - 10 3175 c.2371G>A c.(2371-2373)Gcc>Acc p.A791T SHROOM1_ENST00000378676.1_Missense_Mutation_p.A722T|SHROOM1_ENST00000319854.3_Missense_Mutation_p.A786T NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 791 ASD2. actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCCAGCAGGGCGCAATAGACG 0.701 0 35.0 32.0 33.0 5 132158676 2199 4298 6497 SO:0001583 missense AF314142 CCDS4161.1, CCDS54902.1 5q31.1 2007-05-03 ENSG00000164403 ENSG00000164403 24084 protein-coding gene gene with protein product 611179 11853319, 16615870 Standard NM_133456 Approved APXL2, KIAA1960 uc003kxy.2 Q2M3G4 OTTHUMG00000059835 ENST00000378679.3:c.2371G>A 5.37:g.132158676C>T ENSP00000367950:p.Ala791Thr B7WP40|B7ZL01|Q8TDP0|Q8TF41 ENST00000378679.3 37 CCDS54902.1 . . . . . . . . . . C 8.557 0.876877 0.17395 . . ENSG00000164403 ENST00000378679;ENST00000319854;ENST00000378676 T;T;T 0.29397 1.57;1.57;1.57 4.92 -0.199 0.13220 Apx/shroom, ASD2 (2); 0.979382 0.08366 N 0.956918 T 0.13970 0.0338 N 0.16478 0.41 0.09310 N 1 B;B 0.29115 0.196;0.233 B;B 0.20384 0.017;0.029 T 0.25745 -1.0123 10 0.22706 T 0.39 -3.01 2.6354 0.04956 0.3393:0.4027:0.1163:0.1417 . 786;791 Q2M3G4-2;Q2M3G4 .;SHRM1_HUMAN T 791;786;722 ENSP00000367950:A791T;ENSP00000324245:A786T;ENSP00000367947:A722T ENSP00000324245:A786T A - 1 0 SHROOM1 132186575 0.000000 0.05858 0.031000 0.17742 0.506000 0.33950 0.061000 0.14366 -0.168000 0.10853 0.655000 0.94253 GCC SHROOM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000133033.1 23.395652 0 -1 30 0 0 1 0 NM_133456 8 23.570642 12 0.400000 ZNF860 344787 broad.mit.edu hg19 3 32030999 32030999 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:32030999G>A ENST00000360311.4 + 2 977 c.428G>A c.(427-429)cGa>cAa p.R143Q NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AGATATGATCGAAGGCATCCT 0.403 1 59.0 45.0 49.0 3 32030999 692 1591 2283 SO:0001583 missense AK294003 CCDS46784.1 3p24.1 2013-01-08 ENSG00000197385 ENSG00000197385 """Zinc fingers, C2H2-type"", ""-""" 34513 protein-coding gene gene with protein product Standard NM_001137674 Approved uc011axg.2 A6NHJ4 OTTHUMG00000155838 ENST00000360311.4:c.428G>A 3.37:g.32030999G>A ENSP00000373274:p.Arg143Gln B4DFA4 ENST00000360311.4 37 CCDS46784.1 . . . . . . . . . . G 0.013 -1.623274 0.00820 . . ENSG00000197385 ENST00000360311 T 0.04862 3.54 0.336 0.336 0.15958 . . . . . T 0.05593 0.0147 L 0.43757 1.38 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.40794 -0.9544 8 . . . . 6.424 0.21760 2.0E-4:0.0:0.9998:0.0 . 143 A6NHJ4 ZN860_HUMAN Q 143 ENSP00000373274:R143Q . R + 2 0 ZNF860 32006003 0.010000 0.17322 0.016000 0.15963 0.015000 0.08874 1.299000 0.33424 0.385000 0.24970 0.385000 0.25706 CGA ZNF860-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000341957.1 4.308537 0 -5 78 0 0 1 0 3 7.605368 21 0.125000 SEPT6 23157 broad.mit.edu hg19 X 118774741 118774741 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:118774741G>A ENST00000394610.1 - 6 965 c.701C>T c.(700-702)cCg>cTg p.P234L SEPT6_ENST00000354228.4_Missense_Mutation_p.P234L|SEPT6_ENST00000360156.7_Missense_Mutation_p.P234L|SEPT6_ENST00000394617.2_Missense_Mutation_p.P264L|SEPT6_ENST00000489216.1_Missense_Mutation_p.P234L|SEPT6_ENST00000354416.3_Missense_Mutation_p.P234L|SEPT6_ENST00000343984.5_Missense_Mutation_p.P234L|SEPT6_ENST00000394616.4_Missense_Mutation_p.P176L NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 234 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GACAGCAAACGGCAGGTGGGC 0.547 0 142.0 98.0 113.0 X 118774741 2203 4300 6503 SO:0001583 missense D50918 CCDS14583.1, CCDS14584.1, CCDS14585.1 Xq24 2013-01-21 ENSG00000125354 ENSG00000125354 """Septins""" 15848 protein-coding gene gene with protein product 300683 8590280, 10744683 Standard NM_015129 Approved KIAA0128, SEP2, SEPT2, MGC16619, MGC20339 uc004erv.3 Q14141 OTTHUMG00000022280 ENST00000394610.1:c.701C>T X.37:g.118774741G>A ENSP00000378108:p.Pro234Leu Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87 ENST00000394610.1 37 CCDS14585.1 . . . . . . . . . . G 27.6 4.847985 0.91277 . . ENSG00000125354 ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510 T;T;T;T;T;T;T;T 0.74421 -0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84 5.62 5.62 0.85841 . 0.000000 0.85682 D 0.000000 D 0.92779 0.7704 H 0.99555 4.625 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;0.999;1.0;0.999 D 0.95982 0.8978 10 0.87932 D 0 . 17.5271 0.87803 0.0:0.0:1.0:0.0 . 264;176;234;234 F5H1J5;B4E049;Q14141;Q548C9 .;.;SEPT6_HUMAN;. L 234;234;234;234;234;234;176;264;234 ENSP00000353278:P234L;ENSP00000346169:P234L;ENSP00000418715:P234L;ENSP00000346397:P234L;ENSP00000378108:P234L;ENSP00000341524:P234L;ENSP00000378114:P176L;ENSP00000378115:P264L ENSP00000341524:P234L P - 2 0 SEPT6 118658769 1.000000 0.71417 0.940000 0.37924 0.874000 0.50279 9.476000 0.97823 2.354000 0.79902 0.594000 0.82650 CCG SEPT6-201 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000058061.1 55.136603 0 -3 73 0 0 1 0 NM_145802 18 56.108414 33 0.352941 INPP5F 22876 broad.mit.edu hg19 10 121551527 121551527 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:121551527C>T ENST00000361976.2 + 5 757 c.591C>T c.(589-591)gaC>gaT p.D197D INPP5F_ENST00000369081.1_Silent_p.D101D|INPP5F_ENST00000369083.3_Silent_p.D197D NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 197 SAC. phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) GGGAGAGGGACGGTCGGCCCC 0.502 0 159.0 162.0 161.0 10 121551527 2203 4300 6503 SO:0001819 synonymous_variant AB023183 CCDS7616.1, CCDS58098.1 10q26.13 2009-02-03 ENSG00000198825 ENSG00000198825 17054 protein-coding gene gene with protein product 609389 10231032, 11274189 Standard NM_014937 Approved SAC2, KIAA0966, hSac2 uc001leo.3 Q9Y2H2 OTTHUMG00000019158 ENST00000361976.2:c.591C>T 10.37:g.121551527C>T A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5 ENST00000361976.2 37 CCDS7616.1 INPP5F-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050679.1 85.355508 0 -14 103 0 0 1 0 NM_014937 29 86.481571 49 0.371795 ULK1 8408 broad.mit.edu hg19 12 132396495 132396495 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:132396495C>T ENST00000321867.4 + 13 1308 c.957C>T c.(955-957)ggC>ggT p.G319G NM_003565.2 NP_003556 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 319 Interaction with GABARAP and GABARAPL2. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) AGTCCCTGGGCGAGATGCAGC 0.647 0 49.0 47.0 48.0 12 132396495 2203 4299 6502 SO:0001819 synonymous_variant AF045458 CCDS9274.1 12q24.3 2014-02-12 2013-07-02 ENSG00000177169 ENSG00000177169 12558 protein-coding gene gene with protein product """ATG1 autophagy related 1 homolog (S. cerevisiae)""" 603168 """unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)""" 9693035 Standard NM_003565 Approved ATG1, ATG1A uc001uje.3 O75385 OTTHUMG00000168052 ENST00000321867.4:c.957C>T 12.37:g.132396495C>T Q9UQ28 ENST00000321867.4 37 CCDS9274.1 ULK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397769.3 48.497029 0 -5 57 0 0 1 0 16 48.620791 12 0.571429 LAMA3 3909 broad.mit.edu hg19 18 21484018 21484018 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:21484018G>A ENST00000313654.9 + 50 6681 c.6440G>A c.(6439-6441)cGg>cAg p.R2147Q LAMA3_ENST00000587184.1_Missense_Mutation_p.R482Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2091Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.R538Q NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2147 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) AAGCACGCGCGGTCCTTACAA 0.512 0 81.0 83.0 82.0 18 21484018 2203 4300 6503 SO:0001583 missense L34155 CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1 18q11.2 2013-03-01 2002-08-29 ENSG00000053747 ENSG00000053747 """Laminins""" 6483 protein-coding gene gene with protein product 600805 """laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)""" LAMNA 8077230 Standard NM_000227 Approved nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin uc002kuq.3 Q16787 OTTHUMG00000131874 ENST00000313654.9:c.6440G>A 18.37:g.21484018G>A ENSP00000324532:p.Arg2147Gln B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0 ENST00000313654.9 37 CCDS42419.1 . . . . . . . . . . A 0.212 -1.035403 0.02029 . . ENSG00000053747 ENST00000313654;ENST00000399516;ENST00000269217 T;T;T 0.77358 2.31;-1.09;2.0 6.11 4.95 0.65309 . . . . . T 0.36220 0.0959 N 0.00182 -1.905 0.09310 N 1 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.42783 -0.9431 9 0.02654 T 1 . 6.3132 0.21176 0.7524:0.0:0.1292:0.1184 . 482;538;2091;2147 Q6VU69;B0YJ33;Q6VU67;Q16787 .;.;.;LAMA3_HUMAN Q 2147;2091;538 ENSP00000324532:R2147Q;ENSP00000382432:R2091Q;ENSP00000269217:R538Q ENSP00000269217:R538Q R + 2 0 LAMA3 19738016 0.993000 0.37304 0.064000 0.19789 0.049000 0.14656 3.166000 0.50785 0.549000 0.28973 -0.254000 0.11334 CGG LAMA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254824.3 1.460779 0 -7 112 0 0 1 0 NM_000227, NM_198129 7 16.280938 77 0.083333 EFEMP2 30008 broad.mit.edu hg19 11 65638031 65638031 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:65638031G>A ENST00000307998.6 - 5 696 c.466C>T c.(466-468)Cgc>Tgc p.R156C EFEMP2_ENST00000528176.1_Missense_Mutation_p.R156C NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 156 EGF-like 2; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) CCGATCTTGCGGTAACCATCA 0.622 0 87.0 74.0 78.0 11 65638031 2201 4296 6497 SO:0001583 missense AF109121 CCDS8116.1 11q13 2011-06-17 2011-01-25 ENSG00000172638 ENSG00000172638 """Fibulins""" 3219 protein-coding gene gene with protein product """fibulin 4""" 604633 """EGF-containing fibulin-like extracellular matrix protein 2""" 10601734, 10982184 Standard NR_037718 Approved FBLN4, UPH1 uc001ofy.4 O95967 OTTHUMG00000166664 ENST00000528176.1:c.466C>T 11.37:g.65638031G>A ENSP00000434151:p.Arg156Cys A8K7R4|B3KM31|B3KQT1|O75967 ENST00000528176.1 37 . . . . . . . . . . G 22.9 4.346497 0.82022 . . ENSG00000172638 ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378 D;D;D;D 0.87571 -2.27;-2.27;-2.24;-2.27 5.3 4.35 0.52113 EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); 0.000000 0.42053 D 0.000778 D 0.92678 0.7673 M 0.82716 2.605 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.81914 0.995;0.993 D 0.92183 0.5753 10 0.52906 T 0.07 . 11.3294 0.49467 0.0:0.0:0.7056:0.2944 . 156;156 E9PRU1;O95967 .;FBLN4_HUMAN C 156 ENSP00000434151:R156C;ENSP00000309953:R156C;ENSP00000435419:R156C;ENSP00000435963:R156C ENSP00000309953:R156C R - 1 0 EFEMP2 65394607 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 4.374000 0.59543 2.761000 0.94854 0.561000 0.74099 CGC EFEMP2-007 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000391858.1 34.255824 0 5 29 0 0 1 0 NM_016938 10 34.832819 4 0.714286 NUP210 23225 broad.mit.edu hg19 3 13370329 13370329 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:13370329C>T ENST00000254508.5 - 31 4310 c.4228G>A c.(4228-4230)Gac>Aac p.D1410N NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1410 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CCAGAGTTGTCGTGGAAGTGG 0.547 0 137.0 122.0 127.0 3 13370329 2203 4300 6503 SO:0001583 missense AB020713 CCDS33704.1 3p25 2008-02-05 ENSG00000132182 ENSG00000132182 30052 protein-coding gene gene with protein product 607703 2184032, 7504063 Standard NM_024923 Approved GP210, POM210, FLJ22389, KIAA0906 uc003bxv.1 Q8TEM1 OTTHUMG00000157268 ENST00000254508.5:c.4228G>A 3.37:g.13370329C>T ENSP00000254508:p.Asp1410Asn A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3 ENST00000254508.5 37 CCDS33704.1 . . . . . . . . . . C 16.41 3.114160 0.56398 . . ENSG00000132182 ENST00000254508 T 0.17054 2.3 5.41 5.41 0.78517 . 0.117155 0.64402 D 0.000020 T 0.36248 0.0960 M 0.61703 1.905 0.80722 D 1 D 0.89917 1.0 P 0.59115 0.852 T 0.01215 -1.1416 10 0.29301 T 0.29 -36.046 19.5739 0.95434 0.0:1.0:0.0:0.0 . 1410 Q8TEM1 PO210_HUMAN N 1410 ENSP00000254508:D1410N ENSP00000254508:D1410N D - 1 0 NUP210 13345329 1.000000 0.71417 0.925000 0.36789 0.023000 0.10783 7.755000 0.85180 2.691000 0.91804 0.563000 0.77884 GAC NUP210-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340085.1 77.742315 0 17 77 0 0 1 0 NM_024923 22 80.913576 2 0.916667 KMT2D 8085 broad.mit.edu hg19 12 49433784 49433784 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:49433784G>A ENST00000301067.7 - 31 7768 c.7769C>T c.(7768-7770)tCg>tTg p.S2590L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGGCTGCCCGATGGGTGGAA 0.657 0 33.0 38.0 37.0 12 49433784 1912 4117 6029 SO:0001583 missense AF010403 CCDS44873.1 12q13.12 2013-05-09 2013-05-09 2013-05-09 ENSG00000167548 ENSG00000167548 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 7133 protein-coding gene gene with protein product 602113 """trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2""" TNRC21, MLL2 9247308 Standard NM_003482 Approved ALR, MLL4, CAGL114 O14686 OTTHUMG00000166524 ENST00000301067.7:c.7769C>T 12.37:g.49433784G>A ENSP00000301067:p.Ser2590Leu O14687 ENST00000301067.7 37 CCDS44873.1 . . . . . . . . . . G 9.695 1.152869 0.21371 . . ENSG00000167548 ENST00000301067 T 0.79141 -1.24 5.24 4.3 0.51218 . 0.000000 0.32147 N 0.006511 T 0.60818 0.2298 N 0.14661 0.345 0.27095 N 0.962752 B 0.06786 0.001 B 0.06405 0.002 T 0.57106 -0.7868 10 0.87932 D 0 . 9.7506 0.40473 0.0817:0.1445:0.7738:0.0 . 2590 O14686 MLL2_HUMAN L 2590 ENSP00000301067:S2590L ENSP00000301067:S2590L S - 2 0 MLL2 47720051 0.869000 0.29996 1.000000 0.80357 0.992000 0.81027 1.698000 0.37794 2.609000 0.88269 0.591000 0.81541 TCG KMT2D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390183.2 6.818385 0 -3 18 0 0 1 0 3 7.681915 10 0.230769 ISG15 9636 broad.mit.edu hg19 1 949767 949767 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:949767C>T ENST00000379389.4 + 2 558 c.407C>T c.(406-408)cCg>cTg p.P136L NM_005101.3 NP_005092.1 P05161 ISG15_HUMAN ISG15 ubiquitin-like modifier 136 Ubiquitin-like 2. cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway cytosol|extracellular space protein binding endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GACCAGCTCCCGCTGGGGGAG 0.677 0 45.0 49.0 47.0 1 949767 2203 4299 6502 SO:0001583 missense BC009507 CCDS6.1 1p36.33 2008-02-05 2006-04-28 2006-04-28 ENSG00000187608 ENSG00000187608 4053 protein-coding gene gene with protein product 147571 """interferon, alpha-inducible protein (clone IFI-15K)""" G1P2 3087979 Standard NM_005101 Approved IFI15, UCRP uc001acj.4 P05161 OTTHUMG00000040777 ENST00000379389.4:c.407C>T 1.37:g.949767C>T ENSP00000368699:p.Pro136Leu Q5SVA4|Q7Z2G2|Q96GF0 ENST00000379389.4 37 CCDS6.1 . . . . . . . . . . C 6.876 0.531106 0.13127 . . ENSG00000187608 ENST00000379389 T 0.73897 -0.79 4.21 -8.43 0.00953 Ubiquitin supergroup (1);Ubiquitin (2); 8.594950 0.00166 N 0.000000 T 0.49423 0.1556 N 0.16233 0.39 0.09310 N 1 B 0.28512 0.214 B 0.14023 0.01 T 0.40979 -0.9534 10 0.87932 D 0 -7.5699 0.9151 0.01303 0.2529:0.3409:0.2148:0.1914 . 136 P05161 ISG15_HUMAN L 136 ENSP00000368699:P136L ENSP00000368699:P136L P + 2 0 ISG15 939630 0.000000 0.05858 0.000000 0.03702 0.295000 0.27426 -3.609000 0.00415 -1.993000 0.00974 0.561000 0.74099 CCG ISG15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097989.1 6.847923 0 -4 52 0 0 1 0 NM_005101 5 12.585325 36 0.121951 SALL3 27164 broad.mit.edu hg19 18 76754682 76754682 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:76754682C>T ENST00000536229.3 + 1 3001 c.2292C>T c.(2290-2292)tcC>tcT p.S764S SALL3_ENST00000537592.2_Silent_p.S897S|SALL3_ENST00000575389.2_Silent_p.S897S Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 897 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCGCCCTGTCCGAGTCCTCGT 0.731 0 11.0 14.0 13.0 18 76754682 2034 4017 6051 SO:0001819 synonymous_variant AJ007421 CCDS12013.1 18q23 2013-10-17 2013-10-17 ENSG00000256463 ENSG00000256463 """Zinc fingers, C2H2-type""" 10527 protein-coding gene gene with protein product 605079 """sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)""" 10610715 Standard NM_171999 Approved ZNF796 uc002lmt.3 Q9BXA9 OTTHUMG00000132896 ENST00000537592.2:c.2691C>T 18.37:g.76754682C>T Q9UGH1 ENST00000537592.2 37 CCDS12013.1 SALL3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256397.1 50.533232 0 -1 29 0 0 1 0 NM_171999 15 51.180417 7 0.681818 LRFN1 57622 broad.mit.edu hg19 19 39805081 39805081 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:39805081G>A ENST00000248668.4 - 1 895 c.896C>T c.(895-897)cCg>cTg p.P299L NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 299 Ig-like. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGTGATCAGCGGGGGCTCACA 0.706 0 15.0 20.0 18.0 19 39805081 2116 4238 6354 SO:0001583 missense BC014678 CCDS46071.1 19q13.2 2013-02-11 ENSG00000128011 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 29290 protein-coding gene gene with protein product 612807 10819331, 16828986 Standard NM_020862 Approved KIAA1484, SALM2 uc002okw.2 Q9P244 ENST00000248668.4:c.896C>T 19.37:g.39805081G>A ENSP00000248668:p.Pro299Leu Q8TBS9 ENST00000248668.4 37 CCDS46071.1 . . . . . . . . . . G 23.2 4.393017 0.83011 . . ENSG00000128011 ENST00000248668 D 0.93189 -3.18 4.53 4.53 0.55603 Immunoglobulin-like (1); 0.000000 0.44483 D 0.000453 D 0.97682 0.9240 H 0.97186 3.955 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.97812 1.0251 10 0.38643 T 0.18 . 14.7902 0.69837 0.0:0.0:1.0:0.0 . 299 Q9P244 LRFN1_HUMAN L 299 ENSP00000248668:P299L ENSP00000248668:P299L P - 2 0 LRFN1 44496921 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 9.603000 0.98315 2.352000 0.79861 0.655000 0.94253 CCG LRFN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463835.1 23.327833 0 14 25 0 0 1 0 NM_020862 7 23.507782 4 0.636364 FMO2 2327 broad.mit.edu hg19 1 171174750 171174750 + Missense_Mutation SNP G G A rs72549336 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:171174750G>A ENST00000441535.1 + 7 1277 c.1160G>A c.(1159-1161)cGt>cAt p.R387H RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R387H NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 387 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCAAGCTCGTTGGGTGACA 0.468 0 43.0 42.0 42.0 1 171174750 2203 4299 6502 SO:0001583 missense BC005894 CCDS1293.1 1q24.3 2011-08-04 2006-07-17 ENSG00000094963 ENSG00000094963 3770 protein-coding gene gene with protein product 603955 """flavin containing monooxygenase 2""" 1417778, 9804831 Standard XR_426768 Approved uc001ghk.1 Q99518 OTTHUMG00000035504 ENST00000209929.7:c.1160G>A 1.37:g.171174750G>A ENSP00000209929:p.Arg387His Q53XR0 ENST00000209929.7 37 CCDS1293.1 . . . . . . . . . . G 35 5.460870 0.96240 . . ENSG00000094963 ENST00000209929;ENST00000441535 T;T 0.63580 -0.05;-0.05 5.55 5.55 0.83447 . 0.000000 0.85682 D 0.000000 T 0.81009 0.4734 H 0.94385 3.53 0.80722 D 1 D 0.61697 0.99 P 0.58577 0.841 D 0.85749 0.1342 10 0.72032 D 0.01 -17.9497 18.6468 0.91413 0.0:0.0:1.0:0.0 . 387 Q99518 FMO2_HUMAN H 387 ENSP00000209929:R387H;ENSP00000405905:R387H ENSP00000209929:R387H R + 2 0 FMO2 169441374 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 6.732000 0.74790 2.768000 0.95171 0.655000 0.94253 CGT FMO2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086216.2 44.303176 0 -10 36 0 0 1 0 NM_001460 15 44.364388 18 0.454545 DCTN1 1639 broad.mit.edu hg19 2 74596484 74596484 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:74596484C>T ENST00000361874.3 - 14 1844 c.1527G>A c.(1525-1527)acG>acA p.T509T DCTN1_ENST00000409567.3_Silent_p.T489T|DCTN1_ENST00000409868.1_Silent_p.T492T|DCTN1_ENST00000409438.1_Silent_p.T375T|DCTN1_ENST00000409240.1_Silent_p.T472T|DCTN1_ENST00000394003.3_Silent_p.T502T|DCTN1_ENST00000407639.2_Silent_p.T375T NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 509 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 AGTCTGCAACCGTCTCCTGGG 0.617 0 160.0 152.0 155.0 2 74596484 2203 4300 6503 SO:0001819 synonymous_variant CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1 2p13 2014-09-17 2010-06-24 ENSG00000204843 ENSG00000204843 2711 protein-coding gene gene with protein product """p150 glued homolog (Drosophila)""" 601143 """dynactin 1 (p150, Glued (Drosophila) homolog)""" 1828535 Standard NM_001190836 Approved uc002skx.3 Q14203 OTTHUMG00000129963 ENST00000361874.3:c.1527G>A 2.37:g.74596484C>T A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2 ENST00000361874.3 37 CCDS1939.1 DCTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252227.3 11.461393 0 -1 49 0 0 1 0 NM_004082 5 13.553491 20 0.200000 CLPSL2 389383 broad.mit.edu hg19 6 35745315 35745315 + Missense_Mutation SNP T T G TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:35745315T>G ENST00000360454.2 + 2 168 c.164T>G c.(163-165)tTc>tGc p.F55C CLPSL2_ENST00000403376.3_Missense_Mutation_p.F55C|CLPSL2_ENST00000481904.1_3'UTR Q6UWE3 CF126_HUMAN colipase-like 2 55 digestion|lipid catabolic process extracellular region enzyme activator activity GGTGGAGCCTTCTGTGCCCCC 0.567 0 61.0 57.0 58.0 6 35745315 2203 4300 6503 SO:0001583 missense CCDS4810.2, CCDS69095.1 6p21.31 2014-01-28 2012-02-06 2012-02-06 ENSG00000196748 ENSG00000196748 21250 protein-coding gene gene with protein product """chromosome 6 open reading frame 126""" C6orf126 Standard NM_001286550 Approved dJ510O8.5, UNQ3045 uc010jvz.1 Q6UWE3 OTTHUMG00000014581 ENST00000403376.3:c.164T>G 6.37:g.35745315T>G ENSP00000385898:p.Phe55Cys B0QZ45|Q5T9G3 ENST00000403376.3 37 CCDS4810.2 . . . . . . . . . . T 21.2 4.114540 0.77210 . . ENSG00000196748 ENST00000360454;ENST00000403376 . . . 3.41 3.41 0.39046 . 0.202751 0.24960 N 0.034231 T 0.54078 0.1836 L 0.57536 1.79 0.32740 N 0.507765 D;D 0.89917 1.0;1.0 D;D 0.73380 0.98;0.98 T 0.57665 -0.7772 9 0.87932 D 0 -35.2339 8.5441 0.33410 0.0:0.0:0.0:1.0 . 55;55 Q6UWE3;Q6UWE3-2 CF126_HUMAN;. C 55 . ENSP00000353639:F55C F + 2 0 C6orf126 35853293 0.991000 0.36638 0.966000 0.40874 0.784000 0.44337 0.961000 0.29267 1.782000 0.52362 0.459000 0.35465 TTC CLPSL2-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280618.2 15.936085 0 0 49 0 0 1 0 NM_207409 6 17.852035 21 0.222222 SLC25A28 81894 broad.mit.edu hg19 10 101370891 101370891 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:101370891G>A ENST00000370495.4 - 4 838 c.810C>T c.(808-810)tgC>tgT p.C270C SLC25A28_ENST00000496035.1_5'UTR NM_031212.3 NP_112489.3 Q96A46 MFRN2_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 28 270 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) CAGCTCCTGCGCAAGCTCCAG 0.537 0 75.0 77.0 76.0 10 101370891 1965 4152 6117 SO:0001819 synonymous_variant AF327402 CCDS41559.1 10q24.2 2013-05-22 2012-03-29 ENSG00000155287 ENSG00000155287 """Solute carriers""" 23472 protein-coding gene gene with protein product """mitoferrin 2""" 609767 """solute carrier family 25, member 28""" 11297739 Standard NM_031212 Approved MRS3/4, MRS4L uc001kpx.2 Q96A46 OTTHUMG00000018886 ENST00000370495.4:c.810C>T 10.37:g.101370891G>A Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3 ENST00000370495.4 37 CCDS41559.1 SLC25A28-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049801.1 24.600335 0 1 56 0 0 1 0 NM_031212 11 28.402699 40 0.215686 CCDC180 100499483 broad.mit.edu hg19 9 100071854 100071854 + Silent SNP C C T rs147529206 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:100071854C>T ENST00000375202.2 + 17 1712 c.360C>T c.(358-360)aaC>aaT p.N120N RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.N259N|CCDC180_ENST00000411667.2_Silent_p.N120N|CCDC180_ENST00000395220.1_Silent_p.N259N|CCDC180_ENST00000529487.1_Silent_p.N120N|CCDC180_ENST00000460482.2_3'UTR coiled-coil domain containing 180 GCCTCCCCAACGACTGGATCA 0.537 0 95.0 73.0 81.0 9 100071854 2203 4300 6503 SO:0001819 synonymous_variant AK123391 CCDS35077.1, CCDS35077.2 9q22.33 2013-03-08 2013-03-08 2013-03-08 ENSG00000197816 29303 protein-coding gene gene with protein product """Behcet's Disease Associated Gene 1""" """KIAA1529"", ""chromosome 9 open reading frame 174""" KIAA1529, C9orf174 10819331 Standard NM_020893 Approved DKFZp434I2420, BDAG1 uc004axg.2 Q9P1Z9 OTTHUMG00000167001 ENST00000529487.1:c.360C>T 9.37:g.100071854C>T Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0 ENST00000529487.1 37 CCDS35077.2 CCDC180-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383515.2 23.262803 0 -14 37 0 0 1 0 NM_020893 9 24.638228 23 0.281250 ABCA3 21 broad.mit.edu hg19 16 2347526 2347526 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:2347526G>A ENST00000301732.5 - 17 2767 c.2067C>T c.(2065-2067)gaC>gaT p.D689D ABCA3_ENST00000382381.3_Silent_p.D631D NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 689 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGGTGGGCTCGTCCAGTATCA 0.637 0 97.0 77.0 84.0 16 2347526 2198 4300 6498 SO:0001819 synonymous_variant U78735 CCDS10466.1 16p13.3 2012-03-14 ENSG00000167972 ENSG00000167972 """ATP binding cassette transporters / subfamily A""" 33 protein-coding gene gene with protein product 601615 ABC3 8706931 Standard NM_001089 Approved ABC-C, EST111653, LBM180 uc002cpy.1 Q99758 OTTHUMG00000128845 ENST00000382381.3:c.1893C>T 16.37:g.2347526G>A B2RU09|Q54A95|Q6P5P9|Q92473 ENST00000382381.3 37 ABCA3-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000435440.1 19.626932 0 -34 41 0 0 1 0 NM_001089 8 22.149790 28 0.222222 LRFN3 79414 broad.mit.edu hg19 19 36430628 36430628 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:36430628G>A ENST00000588831.1 + 3 1355 c.301G>A c.(301-303)Ggc>Agc p.G101S LRFN3_ENST00000246529.3_Missense_Mutation_p.G101S Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 101 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CGTGGCTGCCGGCGCCTTCGC 0.697 0 13.0 14.0 14.0 19 36430628 2110 4112 6222 SO:0001583 missense BC003578 CCDS12483.1 19q13.13 2013-02-11 ENSG00000126243 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 28370 protein-coding gene gene with protein product """fibronectin type III, immunoglobulin and leucine rich repeat domains 1""" 612809 12975309, 16495444, 16828986 Standard NM_024509 Approved MGC2656, SALM4, FIGLER1 uc002oco.3 Q9BTN0 ENST00000588831.1:c.301G>A 19.37:g.36430628G>A ENSP00000466989:p.Gly101Ser Q6UY10 ENST00000588831.1 37 CCDS12483.1 . . . . . . . . . . G 3.104 -0.184233 0.06340 . . ENSG00000126243 ENST00000246529 T 0.58940 0.3 4.5 4.5 0.54988 . 0.000000 0.35495 N 0.003172 T 0.45135 0.1327 L 0.49571 1.57 0.18873 N 0.999982 B 0.34264 0.446 B 0.24848 0.056 T 0.34650 -0.9820 10 0.23302 T 0.38 . 11.0601 0.47942 0.0:0.1885:0.8115:0.0 . 101 Q9BTN0 LRFN3_HUMAN S 101 ENSP00000246529:G101S ENSP00000246529:G101S G + 1 0 LRFN3 41122468 0.004000 0.15560 0.668000 0.29813 0.079000 0.17450 0.515000 0.22801 2.231000 0.72958 0.557000 0.71058 GGC LRFN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457403.2 52.207092 0 21 52 0 0 1 0 NM_024509 16 52.797645 8 0.666667 ADCY9 115 broad.mit.edu hg19 16 4164055 4164055 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:4164055G>A ENST00000294016.3 - 2 1927 c.1389C>T c.(1387-1389)atC>atT p.I463I NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 463 Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGCCCATCTCGATGCAGCAGT 0.597 0 87.0 93.0 91.0 16 4164055 2197 4300 6497 SO:0001819 synonymous_variant AF036927 CCDS32382.1 16p13.3 2013-02-04 ENSG00000162104 """Adenylate cyclases""" 240 protein-coding gene gene with protein product 603302 9628827 Standard NM_001116 Approved AC9 uc002cvx.3 O60503 ENST00000294016.3:c.1389C>T 16.37:g.4164055G>A A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2 ENST00000294016.3 37 CCDS32382.1 ADCY9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438076.1 5.309029 0 1 82 0 0 1 0 6 14.388341 52 0.103448 TCEB3CL 728929 broad.mit.edu hg19 18 44549182 44549182 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:44549182C>T ENST00000451265.1 - 1 1352 c.1117G>A c.(1117-1119)Gat>Aat p.D373N KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 TACGGCTGATCGGGCGTCCAC 0.582 0 260.0 221.0 234.0 18 44549182 1740 3470 5210 SO:0001583 missense 18q21.1 2007-07-10 ENSG00000275553 31007 protein-coding gene gene with protein product Standard NM_001100817 Approved HsT828 Q3SY89 ENST00000451265.1:c.1117G>A 18.37:g.44549182C>T ENSP00000409932:p.Asp373Asn Q3MI93 ENST00000451265.1 37 CCDS42433.1 . . . . . . . . . . C 10.97 1.502292 0.26949 . . ENSG00000234298 ENST00000451265 T 0.33654 1.4 1.5 -2.22 0.06952 . 1.096110 0.07174 N 0.852816 T 0.24431 0.0592 L 0.37697 1.125 0.09310 N 1 P 0.38078 0.617 B 0.29663 0.105 T 0.15983 -1.0418 10 0.48119 T 0.1 -5.2221 10.3053 0.43676 0.0:0.4154:0.5846:0.0 . 373 Q3SY89 EA3L1_HUMAN N 373 ENSP00000409932:D373N ENSP00000409932:D373N D - 1 0 TCEB3CL 42803180 1.000000 0.71417 0.000000 0.03702 0.000000 0.00434 1.782000 0.38654 -0.691000 0.05135 -1.169000 0.01745 GAT TCEB3CL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451071.1 6.861004 0 10 406 0 0 1 0 XM_001132059 19 42.915044 193 0.089623 LRP2BP 55805 broad.mit.edu hg19 4 186295495 186295495 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:186295495G>A ENST00000362004.3 - 4 1268 c.457C>T c.(457-459)Cga>Tga p.R153* RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000328559.7_Nonsense_Mutation_p.R151* Q9P2M1 LR2BP_HUMAN LRP2 binding protein 151 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) TCATTTGATCGTTTAACACCT 0.388 0 180.0 170.0 173.0 4 186295495 2203 4300 6503 SO:0001587 stop_gained AB037746 CCDS3840.1 4q35.1 2011-05-03 ENSG00000109771 ENSG00000109771 25434 protein-coding gene gene with protein product 10718198, 12508107 Standard NM_018409 Approved DKFZp761O0113 uc003ixj.2 Q9P2M1 OTTHUMG00000160460 ENST00000328559.7:c.451C>T 4.37:g.186295495G>A ENSP00000332681:p.Arg151* A6NJR7|A7E219|B3KX83|Q9NSN6 ENST00000328559.7 37 CCDS3840.1 2 9.157509157509158E-4 2 0.0040650406504065045 0 0.0 0 0.0 0 0.0 G 50 16.899404 0.99874 4.54E-4 0.0 ENSG00000109771 ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916;ENST00000511404 . . . 5.56 4.66 0.58398 . 0.348304 0.28109 N 0.016572 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.25106 T 0.35 -5.8142 13.9676 0.64218 0.0:0.0:0.6787:0.3213 . . . . X 153;151;125;151;151 . ENSP00000332681:R151X R - 1 2 LRP2BP 186532489 0.081000 0.21417 0.205000 0.23548 0.678000 0.39670 2.278000 0.43426 1.304000 0.44892 0.563000 0.77884 CGA LRP2BP-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000360679.2 77.565604 0 -25 80 0 0 1 0 NM_018409 25 77.998302 36 0.409836 C3orf56 285311 broad.mit.edu hg19 3 126915881 126915881 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:126915881C>T ENST00000398112.1 + 2 593 c.353C>T c.(352-354)cCg>cTg p.P118L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) ATAGGAAGTCCGTATCTGGCT 0.597 0 127.0 135.0 133.0 3 126915881 1897 4122 6019 SO:0001583 missense AK097460 CCDS63757.1 3q21.3 2012-08-08 ENSG00000214324 ENSG00000214324 32481 protein-coding gene gene with protein product 14702039 Standard NM_001007534 Approved FLJ40141 uc003eji.1 Q8N813 OTTHUMG00000159593 ENST00000398112.1:c.353C>T 3.37:g.126915881C>T ENSP00000381182:p.Pro118Leu B2RNW5 ENST00000398112.1 37 . . . . . . . . . . C 1.279 -0.610791 0.03690 0.0 1.21E-4 ENSG00000214324 ENST00000398112 . . . 2.04 -0.411 0.12370 . . . . . T 0.11367 0.0277 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.31110 -0.9955 7 0.02654 T 1 . 2.7604 0.05305 0.4743:0.2745:0.0:0.2512 . 118 Q8N813 CC056_HUMAN L 118 . ENSP00000381182:P118L P + 2 0 C3orf56 128398571 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.072000 0.11486 -0.108000 0.12066 -1.522000 0.00932 CCG C3orf56-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000356354.1 207.511649 0 -48 243 0 0 1 0 61 211.935273 21 0.743902 PPEF1 5475 broad.mit.edu hg19 X 18775810 18775810 + Silent SNP G G A rs143899775 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:18775810G>A ENST00000361511.4 + 8 956 c.462G>A c.(460-462)ccG>ccA p.P154P PPEF1_ENST00000359763.6_Silent_p.P101P|PPEF1_ENST00000543630.1_Silent_p.P154P|PPEF1_ENST00000349874.5_Silent_p.P154P|PPEF1_ENST00000544635.1_Silent_p.P89P NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 154 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) AGCAAATGCCGAATTTCACTC 0.413 0 214.0 200.0 205.0 X 18775810 2203 4300 6503 SO:0001819 synonymous_variant BC036026 CCDS14188.1, CCDS43920.1 Xp22 2013-01-10 ENSG00000086717 ENSG00000086717 """Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing""" 9243 protein-coding gene gene with protein product """protein phosphatase 7, catalytic subunit, alpha isozyme""" 300109 PPEF 9215685, 9326663 Standard NM_152224 Approved PPP7CA uc004cyq.3 O14829 OTTHUMG00000021219 ENST00000361511.4:c.462G>A X.37:g.18775810G>A A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0 ENST00000361511.4 37 CCDS14188.1 PPEF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055953.3 279.553652 0 1 224 0 0 1 0 NM_006240 89 280.223204 114 0.438424 ERAP2 64167 broad.mit.edu hg19 5 96219534 96219534 + Missense_Mutation SNP G G A rs73150323 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:96219534G>A ENST00000437043.3 + 3 1325 c.614G>A c.(613-615)cGc>cAc p.R205H ERAP2_ENST00000510309.1_Missense_Mutation_p.R205H|ERAP2_ENST00000379904.4_Missense_Mutation_p.R205H|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 205 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) ACCCAGGCACGCATGGCTTTC 0.438 0 89.0 83.0 86.0 5 96219534 2203 4300 6503 SO:0001583 missense AF191545 CCDS4086.1 5q15 2007-11-21 ENSG00000164308 ENSG00000164308 29499 protein-coding gene gene with protein product """leukocyte-derived arginine aminopeptidase""" 609497 12799365, 15908954 Standard NM_022350 Approved L-RAP, LRAP uc003kmt.3 Q6P179 OTTHUMG00000128718 ENST00000437043.3:c.614G>A 5.37:g.96219534G>A ENSP00000400376:p.Arg205His Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2 ENST00000437043.3 37 CCDS4086.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 G 24.3 4.521248 0.85600 9.08E-4 0.0 ENSG00000164308 ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309 T;T;T;T;T 0.11063 2.87;2.87;2.87;2.81;2.87 5.13 3.26 0.37387 Peptidase M1, membrane alanine aminopeptidase, N-terminal (2); 0.178796 0.36854 N 0.002371 T 0.49813 0.1579 H 0.99368 4.535 0.39718 D 0.971428 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 T 0.65030 -0.6267 10 0.87932 D 0 . 9.8843 0.41253 0.1812:0.0:0.8188:0.0 . 205;205 Q6P179-3;Q6P179 .;ERAP2_HUMAN H 205 ENSP00000400376:R205H;ENSP00000421175:R205H;ENSP00000421849:R205H;ENSP00000369235:R205H;ENSP00000425758:R205H ENSP00000369235:R205H R + 2 0 ERAP2 96245290 0.888000 0.30383 0.011000 0.14972 0.962000 0.63368 4.905000 0.63286 0.593000 0.29745 0.557000 0.71058 CGC ERAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250623.2 47.157135 0 -7 61 0 0 1 0 NM_022350 17 48.412201 34 0.333333 SBSPON 157869 broad.mit.edu hg19 8 73993379 73993379 + Missense_Mutation SNP C C T rs34728970 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:73993379C>T ENST00000297354.6 - 2 488 c.284G>A c.(283-285)cGt>cAt p.R95H SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 95 TSP type-1. immune response extracellular region polysaccharide binding|scavenger receptor activity CCTCCGCACACGGGTTGTAGG 0.652 0 65.0 72.0 70.0 8 73993379 2021 4174 6195 SO:0001583 missense CCDS43747.2 8q21.11 2013-08-07 2012-05-15 2012-05-15 ENSG00000164764 ENSG00000164764 30362 protein-coding gene gene with protein product """RPE spondin"", ""rpe-spondin""" """chromosome 8 open reading frame 84""" C8orf84 12107410 Standard NM_153225 Approved RPESP uc003xzf.3 Q8IVN8 OTTHUMG00000157144 ENST00000297354.6:c.284G>A 8.37:g.73993379C>T ENSP00000297354:p.Arg95His A8KAA5|Q96J64 ENST00000297354.6 37 CCDS43747.2 . . . . . . . . . . C 28.1 4.888198 0.91814 . . ENSG00000164764 ENST00000297354 T 0.21191 2.02 5.29 4.4 0.53042 . 0.118037 0.56097 D 0.000031 T 0.44117 0.1278 M 0.80982 2.52 0.80722 D 1 D 0.67145 0.996 P 0.58077 0.832 T 0.52026 -0.8630 10 0.66056 D 0.02 -5.0986 15.3079 0.74008 0.1412:0.8588:0.0:0.0 . 95 Q8IVN8 RPESP_HUMAN H 95 ENSP00000297354:R95H ENSP00000297354:R95H R - 2 0 C8orf84 74155933 1.000000 0.71417 0.971000 0.41717 0.926000 0.56050 5.388000 0.66249 1.204000 0.43247 0.591000 0.81541 CGT SBSPON-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347584.2 43.478442 0 -2 112 0 0 1 0 NM_153225 16 45.632269 39 0.290909 PLEK2 26499 broad.mit.edu hg19 14 67862208 67862208 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:67862208G>A ENST00000216446.4 - 3 440 c.300C>T c.(298-300)acC>acT p.T100T NM_016445.1 NP_057529.1 Q9NYT0 PLEK2_HUMAN pleckstrin 2 100 PH 1. actin cytoskeleton organization|intracellular signal transduction cytoplasm|cytoskeleton|lamellipodium membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 15 all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953) GAATAGCCCCGGTGATCTCAA 0.597 1 90.0 89.0 89.0 14 67862208 2203 4300 6503 SO:0001819 synonymous_variant AF228603 CCDS9782.1 14q23.3 2014-08-12 ENSG00000100558 ENSG00000100558 """Pleckstrin homology (PH) domain containing""" 19238 protein-coding gene gene with protein product 608007 11911883, 17658464 Standard NM_016445 Approved uc001xjh.1 Q9NYT0 OTTHUMG00000171247 ENST00000216446.4:c.300C>T 14.37:g.67862208G>A Q96JT0 ENST00000216446.4 37 CCDS9782.1 PLEK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412547.2 -3.564476 0 -26 87 0 0 1 0 5 11.283531 71 0.065789 KIRREL 55243 broad.mit.edu hg19 1 158047863 158047863 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:158047863C>T ENST00000368173.3 + 3 689 c.285C>T c.(283-285)gaC>gaT p.D95D KIRREL_ENST00000392272.2_Silent_p.D95D|KIRREL_ENST00000359209.6_Silent_p.D95D|KIRREL_ENST00000360089.4_Silent_p.D34D|KIRREL_ENST00000416935.2_Intron NM_018240.5 NP_060710.3 Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 95 Ig-like C2-type 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) TCTCTGACGACGCCTCTTACG 0.612 0 126.0 114.0 118.0 1 158047863 2203 4300 6503 SO:0001819 synonymous_variant AK001707 CCDS1172.2, CCDS72952.1 1q21-q25 2013-01-29 ENSG00000183853 ENSG00000183853 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 15734 protein-coding gene gene with protein product """nephrin-like protein 1""" 607428 12424224 Standard NM_001286349 Approved NEPH1 uc001frn.4 Q96J84 OTTHUMG00000022438 ENST00000360089.4:c.102C>T 1.37:g.158047863C>T Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5 ENST00000360089.4 37 KIRREL-002 PUTATIVE non_canonical_TEC|basic protein_coding protein_coding OTTHUMT00000058343.2 144.649573 0 -1 110 0 0 1 0 NM_018240 46 144.651868 47 0.494624 EMC1 23065 broad.mit.edu hg19 1 19557911 19557911 + Silent SNP C C T rs150315726 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:19557911C>T ENST00000477853.1 - 16 1830 c.1788G>A c.(1786-1788)tcG>tcA p.S596S RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.S574S|EMC1_ENST00000375199.3_Silent_p.S595S NM_001271427.1|NM_001271428.1|NM_015047.2 NP_001258356.1|NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 AACTCATTCCCGACTCCTAAA 0.502 0 40.0 41.0 40.0 1 19557911 2203 4300 6503 SO:0001819 synonymous_variant CCDS190.1, CCDS59190.1, CCDS59191.1 1p36.13 2012-05-23 2012-05-23 2012-05-23 ENSG00000127463 ENSG00000127463 28957 protein-coding gene gene with protein product """KIAA0090""" KIAA0090 22119785 Standard NM_015047 Approved uc001bbo.4 Q8N766 OTTHUMG00000002497 ENST00000477853.1:c.1788G>A 1.37:g.19557911C>T A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8 ENST00000477853.1 37 CCDS190.1 . . . . . . . . . . C 8.021 0.759725 0.15846 4.54E-4 0.0 ENSG00000127463 ENST00000375197 . . . 4.87 -3.78 0.04333 . . . . . T 0.40145 0.1105 . . . 0.80722 D 1 . . . . . . T 0.38757 -0.9646 4 . . . . 3.5369 0.07796 0.1244:0.1479:0.1236:0.6041 . . . . R 330 . . G - 1 0 KIAA0090 19430498 0.007000 0.16637 0.994000 0.49952 0.801000 0.45260 -1.550000 0.02180 -0.239000 0.09710 0.462000 0.41574 GGG EMC1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000007076.2 24.901521 0 -9 35 0 0 1 0 NM_015047 8 25.052987 5 0.615385 ATF7IP 55729 broad.mit.edu hg19 12 14650705 14650705 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:14650705G>A ENST00000544627.1 + 15 3855 c.3535G>A c.(3535-3537)Gtt>Att p.V1179I ATF7IP_ENST00000261168.4_Missense_Mutation_p.V1171I|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V1171I|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V1170I Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1171 Fibronectin type-III.|Interaction with MBD1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GTTAGCACGCGTTCAGAGTCA 0.532 0 183.0 150.0 161.0 12 14650705 2203 4300 6503 SO:0001583 missense AJ242978 CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1 12p13.1 2005-11-18 ENSG00000171681 20092 protein-coding gene gene with protein product 613644 10976766, 10777215 Standard XM_005253424 Approved FLJ10688, p621 uc001rbw.3 Q6VMQ6 ENST00000540793.1:c.3511G>A 12.37:g.14650705G>A ENSP00000444589:p.Val1171Ile F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8 ENST00000540793.1 37 CCDS8663.1 . . . . . . . . . . G 25.1 4.600276 0.87055 . . ENSG00000171681 ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793 T;T;T;T 0.29917 1.55;1.55;1.55;1.55 6.08 6.08 0.98989 Fibronectin, type III (2);Immunoglobulin-like fold (1); 0.000000 0.56097 D 0.000027 T 0.50820 0.1638 L 0.41573 1.285 0.80722 D 1 D;D 0.76494 0.999;0.999 D;D 0.76071 0.987;0.987 T 0.44267 -0.9339 10 0.87932 D 0 -19.1858 20.6634 0.99662 0.0:0.0:1.0:0.0 . 1170;1171 G3V1U0;Q6VMQ6 .;MCAF1_HUMAN I 1171;1170;1179;1171 ENSP00000261168:V1171I;ENSP00000445955:V1170I;ENSP00000440440:V1179I;ENSP00000444589:V1171I ENSP00000261168:V1171I V + 1 0 ATF7IP 14541972 1.000000 0.71417 0.995000 0.50966 0.994000 0.84299 7.857000 0.86963 2.894000 0.99253 0.655000 0.94253 GTT ATF7IP-024 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000401400.1 62.297505 0 -13 39 0 0 1 0 NM_018179 20 62.342892 23 0.465116 DLGAP3 58512 broad.mit.edu hg19 1 35365688 35365688 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:35365688C>T ENST00000373347.1 - 4 1562 c.1294G>A c.(1294-1296)Gtg>Atg p.V432M DLGAP3_ENST00000235180.4_Missense_Mutation_p.V432M O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 432 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GCCTGGTCCACGCTGGAGGAG 0.647 0 59.0 56.0 57.0 1 35365688 2203 4300 6503 SO:0001583 missense AF131778 CCDS30670.1 1p35.3-p34.1 2008-02-05 ENSG00000116544 ENSG00000116544 30368 protein-coding gene gene with protein product 611413 8619474, 9110174 Standard NM_001080418 Approved SAPAP3, DAP3 uc001byc.3 O95886 OTTHUMG00000004049 ENST00000373347.1:c.1294G>A 1.37:g.35365688C>T ENSP00000362444:p.Val432Met Q5TDD5|Q9H3X7 ENST00000373347.1 37 CCDS30670.1 . . . . . . . . . . C 12.05 1.821795 0.32237 0.0 1.16E-4 ENSG00000116544 ENST00000373347;ENST00000235180;ENST00000542913 D;D 0.89270 -2.49;-2.49 4.57 4.57 0.56435 . 1.186950 0.06037 N 0.654190 D 0.83603 0.5290 N 0.24115 0.695 0.37404 D 0.912954 B 0.30851 0.297 B 0.19391 0.025 T 0.68704 -0.5338 10 0.29301 T 0.29 -10.5228 17.5202 0.87784 0.0:1.0:0.0:0.0 . 432 O95886 DLGP3_HUMAN M 432;432;115 ENSP00000362444:V432M;ENSP00000235180:V432M ENSP00000235180:V432M V - 1 0 DLGAP3 35138275 0.998000 0.40836 0.987000 0.45799 0.986000 0.74619 2.699000 0.47077 2.361000 0.80049 0.462000 0.41574 GTG DLGAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000011554.1 26.066116 0 1 54 0 0 1 0 NM_021234 9 26.730275 18 0.333333 TLN2 83660 broad.mit.edu hg19 15 63029131 63029131 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:63029131G>A ENST00000561311.1 + 28 3643 c.3413G>A c.(3412-3414)cGt>cAt p.R1138H TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.R1138H Q9Y4G6 TLN2_HUMAN talin 2 1138 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CAGGCCGCCCGTGGAGTGGCT 0.582 0 32.0 36.0 34.0 15 63029131 2203 4300 6503 SO:0001583 missense AB002318 CCDS32261.1 15q15-q21 2008-07-03 ENSG00000171914 ENSG00000171914 15447 protein-coding gene gene with protein product 607349 9205841, 11527381 Standard NM_015059 Approved KIAA0320, ILWEQ uc002alb.4 Q9Y4G6 OTTHUMG00000133679 ENST00000561311.1:c.3413G>A 15.37:g.63029131G>A ENSP00000453508:p.Arg1138His A6NLB8 ENST00000561311.1 37 CCDS32261.1 . . . . . . . . . . G 21.4 4.148716 0.78001 . . ENSG00000171914 ENST00000306829 T 0.15139 2.45 5.42 5.42 0.78866 . 0.000000 0.85682 D 0.000000 T 0.39886 0.1095 M 0.66378 2.025 0.58432 D 0.999999 D 0.71674 0.998 P 0.62885 0.908 T 0.05321 -1.0892 10 0.40728 T 0.16 -14.792 19.2437 0.93893 0.0:0.0:1.0:0.0 . 1138 Q9Y4G6 TLN2_HUMAN H 1138 ENSP00000303476:R1138H ENSP00000303476:R1138H R + 2 0 TLN2 60816423 1.000000 0.71417 0.995000 0.50966 0.963000 0.63663 8.029000 0.88807 2.545000 0.85829 0.591000 0.81541 CGT TLN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257878.2 66.205498 0 -3 54 0 0 1 0 21 66.433595 15 0.583333 TTN 7273 broad.mit.edu hg19 2 179423251 179423251 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:179423251C>T ENST00000589042.1 - 327 87159 c.86935G>A c.(86935-86937)Gtt>Att p.V28979I TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000591111.1_Missense_Mutation_p.V27338I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27338 Fibronectin type-III 111. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTGCTTCAACGACATAGTGT 0.428 0 128.0 123.0 124.0 2 179423251 1896 4134 6030 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.86935G>A 2.37:g.179423251C>T ENSP00000467141:p.Val28979Ile A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 ENST00000589042.1 37 CCDS59435.1 . . . . . . . . . . C 10.88 1.476783 0.26511 5.27E-4 1.21E-4 ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.60672 0.17;0.17;0.17;0.17 5.76 2.97 0.34412 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.35422 0.0931 N 0.11560 0.145 0.28859 N 0.895597 B;B;B;B 0.10296 0.003;0.003;0.003;0.003 B;B;B;B 0.09377 0.004;0.004;0.004;0.004 T 0.28332 -1.0047 9 0.87932 D 0 . 5.8362 0.18609 0.0:0.5185:0.1253:0.3562 . 19914;20039;20106;27338 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN I 26411;19914;20106;20039;19911 ENSP00000343764:V26411I;ENSP00000434586:V19914I;ENSP00000340554:V20106I;ENSP00000352154:V20039I ENSP00000340554:V20106I V - 1 0 TTN 179131497 0.146000 0.22672 0.395000 0.26283 0.920000 0.55202 0.712000 0.25779 0.432000 0.26286 0.655000 0.94253 GTT TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 4.309415 0 -15 32 0 0 1 0 NM_133378 3 7.127171 19 0.136364 DCTN1 1639 broad.mit.edu hg19 2 74593736 74593736 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:74593736C>T ENST00000361874.3 - 22 2795 c.2478G>A c.(2476-2478)acG>acA p.T826T DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409567.3_Silent_p.T806T|DCTN1_ENST00000409868.1_Silent_p.T809T|DCTN1_ENST00000409438.1_Silent_p.T692T|DCTN1_ENST00000409240.1_Silent_p.T789T|DCTN1_ENST00000394003.3_Silent_p.T819T|DCTN1_ENST00000407639.2_Silent_p.T692T NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 826 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 AGTCTAGGAGCGTGTCAGATA 0.572 0 131.0 130.0 130.0 2 74593736 2203 4300 6503 SO:0001819 synonymous_variant CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1 2p13 2014-09-17 2010-06-24 ENSG00000204843 ENSG00000204843 2711 protein-coding gene gene with protein product """p150 glued homolog (Drosophila)""" 601143 """dynactin 1 (p150, Glued (Drosophila) homolog)""" 1828535 Standard NM_001190836 Approved uc002skx.3 Q14203 OTTHUMG00000129963 ENST00000361874.3:c.2478G>A 2.37:g.74593736C>T A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2 ENST00000361874.3 37 CCDS1939.1 DCTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252227.3 156.372665 0 -28 187 0 0 1 0 NM_004082 52 157.282989 75 0.409449 OR10H1 26539 broad.mit.edu hg19 19 15918449 15918449 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:15918449G>A ENST00000334920.2 - 1 487 c.399C>T c.(397-399)aaC>aaT p.N133N NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 TCATGAGCACGTTGTAGCGCA 0.637 1 73.0 59.0 64.0 19 15918449 2203 4300 6503 SO:0001819 synonymous_variant AC004510 CCDS12335.1 19p13.1 2012-08-09 ENSG00000186723 """GPCR / Class A : Olfactory receptors""" 8172 protein-coding gene gene with protein product Standard NM_013940 Approved uc002nbq.2 Q9Y4A9 ENST00000334920.2:c.399C>T 19.37:g.15918449G>A Q6IFQ2|Q96R59 ENST00000334920.2 37 CCDS12335.1 OR10H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460364.1 10.558399 0 -19 53 0 0 1 0 5 13.280850 23 0.178571 COX16 51241 broad.mit.edu hg19 14 70809398 70809398 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:70809398G>A ENST00000389912.6 - 2 261 c.118C>T c.(118-120)Cga>Tga p.R40* COX16_ENST00000557612.1_Intron|SYNJ2BP-COX16_ENST00000555276.1_RNA NM_016468.6 NP_057552.1 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) large_intestine(1)|lung(2) 3 GCATCATATCGGATTTGAGAA 0.328 0 88.0 93.0 92.0 14 70809398 2203 4300 6503 SO:0001587 stop_gained AF151037 CCDS9802.1 14q24.2 2013-05-10 2008-08-14 2008-06-23 ENSG00000133983 ENSG00000133983 20213 protein-coding gene gene with protein product """chromosome 14 open reading frame 112""" C14orf112 11042152, 15596615 Standard NM_016468 Approved HSPC203 Q9P0S2 OTTHUMG00000171238 ENST00000389912.6:c.118C>T 14.37:g.70809398G>A ENSP00000374562:p.Arg40* A6NDT5|A8K3X8 ENST00000389912.6 37 CCDS9802.1 . . . . . . . . . . G 36 5.966321 0.97156 . . ENSG00000133983 ENST00000389912 . . . 5.03 5.03 0.67393 . 0.000000 0.48286 U 0.000183 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 4.7716 14.5908 0.68362 0.0:0.0:1.0:0.0 . . . . X 40 . ENSP00000374562:R40X R - 1 2 COX16 69879151 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 4.583000 0.60964 2.726000 0.93360 0.655000 0.94253 CGA COX16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412470.2 44.947511 0 -1 65 0 0 1 0 NM_016468 14 45.010582 17 0.451613 SPTBN4 57731 broad.mit.edu hg19 19 41008365 41008365 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:41008365G>A ENST00000352632.3 + 10 1240 c.1154G>A c.(1153-1155)cGt>cAt p.R385H SPTBN4_ENST00000344104.3_Missense_Mutation_p.R385H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R385H Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 385 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCTGCAACCGTCGCCTCTTT 0.602 0 73.0 76.0 75.0 19 41008365 2203 4300 6503 SO:0001583 missense AF082075 CCDS12559.1, CCDS42569.1 19q13.13 2013-01-10 ENSG00000160460 """Pleckstrin homology (PH) domain containing""" 14896 protein-coding gene gene with protein product 606214 11086001 Standard NM_020971 Approved SPTBN3, KIAA1642 uc002onz.3 Q9H254 ENST00000352632.3:c.1154G>A 19.37:g.41008365G>A ENSP00000263373:p.Arg385His E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0 ENST00000352632.3 37 CCDS12559.1 . . . . . . . . . . G 19.47 3.834173 0.71373 . . ENSG00000160460 ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104 T;T;T 0.50277 0.75;0.75;0.75 3.54 3.54 0.40534 . 0.106112 0.37809 U 0.001926 T 0.63260 0.2496 L 0.60904 1.88 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.72982 0.962;0.979 T 0.66881 -0.5811 10 0.56958 D 0.05 . 15.0565 0.71917 0.0:0.0:1.0:0.0 . 385;385 Q9H254;Q71S06 SPTN4_HUMAN;. H 385 ENSP00000263373:R385H;ENSP00000340345:R385H;ENSP00000340741:R385H ENSP00000340345:R385H R + 2 0 SPTBN4 45700205 0.564000 0.26602 0.996000 0.52242 0.859000 0.49053 1.119000 0.31258 2.283000 0.76528 0.563000 0.77884 CGT SPTBN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462559.2 13.163805 0 -17 94 0 0 1 0 8 20.279461 49 0.140351 PCDH19 57526 broad.mit.edu hg19 X 99662742 99662742 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:99662742G>A ENST00000373034.4 - 1 2529 c.854C>T c.(853-855)aCg>aTg p.T285M PCDH19_ENST00000420881.2_Missense_Mutation_p.T285M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T285M NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 285 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GAGCTCGCGCGTGCGGTCGTT 0.612 0 106.0 112.0 110.0 X 99662742 2170 4247 6417 SO:0001583 missense AB037734 CCDS43976.1, CCDS48141.1, CCDS55462.1 Xq22.1 2014-06-28 ENSG00000165194 ENSG00000165194 """Cadherins / Protocadherins : Non-clustered""" 14270 protein-coding gene gene with protein product 300460 """epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)""" EFMR 11549318, 18469813, 19752159 Standard NM_020766 Approved KIAA1313, EIEE9 uc010nmz.3 Q8TAB3 OTTHUMG00000022000 ENST00000373034.4:c.854C>T X.37:g.99662742G>A ENSP00000362125:p.Thr285Met B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3 ENST00000373034.4 37 CCDS55462.1 . . . . . . . . . . G 17.12 3.307851 0.60305 . . ENSG00000165194 ENST00000420881;ENST00000373034;ENST00000255531 T;T;T 0.54071 0.59;0.64;0.59 5.95 5.95 0.96441 Cadherin (4);Cadherin-like (1); 0.095982 0.64402 D 0.000001 T 0.70219 0.3199 M 0.63208 1.945 0.58432 D 0.999994 D;D;D 0.69078 0.997;0.965;0.972 D;P;P 0.63793 0.918;0.637;0.752 T 0.71556 -0.4557 10 0.66056 D 0.02 . 19.254 0.93938 0.0:0.0:1.0:0.0 . 285;285;285 Q8TAB3;Q8TAB3-2;E9PAM6 PCD19_HUMAN;.;. M 285 ENSP00000400327:T285M;ENSP00000362125:T285M;ENSP00000255531:T285M ENSP00000255531:T285M T - 2 0 PCDH19 99549398 1.000000 0.71417 0.538000 0.28064 0.811000 0.45836 6.733000 0.74796 2.498000 0.84270 0.513000 0.50165 ACG PCDH19-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000057479.2 48.659946 0 -41 91 0 0 1 0 NM_020766 20 53.382889 61 0.246914 PHKA2 5256 broad.mit.edu hg19 X 18944633 18944633 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:18944633G>A ENST00000379942.4 - 14 2062 c.1397C>T c.(1396-1398)gCg>gTg p.A466V NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 466 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) ATGAATGTCCGCGATACTCTG 0.458 0 175.0 138.0 150.0 X 18944633 2203 4300 6503 SO:0001583 missense CCDS14190.1 Xp22.2-p22.1 2009-07-10 ENSG00000044446 ENSG00000044446 8926 protein-coding gene gene with protein product 300798 PHK, PYK 2387090 Standard NM_000292 Approved uc004cyv.4 P46019 OTTHUMG00000021222 ENST00000379942.4:c.1397C>T X.37:g.18944633G>A ENSP00000369274:p.Ala466Val A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1 ENST00000379942.4 37 CCDS14190.1 1 6.027727546714888E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 16.32 3.091165 0.55968 . . ENSG00000044446 ENST00000379942 D 0.91180 -2.8 5.38 5.38 0.77491 Glycoside hydrolase 15-related (1); 0.207947 0.51477 D 0.000087 D 0.89298 0.6675 M 0.80982 2.52 0.54753 D 0.999983 P 0.37233 0.588 B 0.30572 0.117 D 0.89015 0.3431 10 0.41790 T 0.15 -14.0755 13.7211 0.62728 0.0:0.1504:0.8496:0.0 . 466 P46019 KPB2_HUMAN V 466 ENSP00000369274:A466V ENSP00000369274:A466V A - 2 0 PHKA2 18854554 1.000000 0.71417 0.887000 0.34795 0.469000 0.32828 7.271000 0.78506 2.383000 0.81215 0.600000 0.82982 GCG PHKA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055960.1 12.117081 0 -20 154 0 0 1 0 NM_000292 12 29.268562 100 0.107143 KIAA1324L 222223 broad.mit.edu hg19 7 86526871 86526871 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:86526871G>A ENST00000450689.2 - 19 2821 c.2636C>T c.(2635-2637)aCg>aTg p.T879M KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T712M|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T808M|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T639M NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 879 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GTCATGCTCCGTACACAGAGG 0.463 1 100.0 90.0 93.0 7 86526871 2203 4300 6503 SO:0001583 missense AK055902 CCDS34677.1, CCDS47632.1, CCDS34677.2 7q21.12 2008-09-18 ENSG00000164659 ENSG00000164659 21945 protein-coding gene gene with protein product """EIG121-like""" 614048 Standard NM_001142749 Approved FLJ31340, EIG121L uc011kha.2 A8MWY0 OTTHUMG00000153995 ENST00000416314.1:c.2135C>T 7.37:g.86526871G>A ENSP00000402390:p.Thr712Met A4D1C9|B4DJV3|Q17RI6|Q96DP2 ENST00000416314.1 37 CCDS34677.2 . . . . . . . . . . G 21.7 4.182074 0.78677 . . ENSG00000164659 ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314 T;T;T;T 0.19394 2.42;2.16;2.15;2.16 5.37 5.37 0.77165 . 0.104529 0.64402 D 0.000004 T 0.37210 0.0995 L 0.36672 1.1 0.58432 D 0.999996 D;D;D 0.76494 0.999;0.999;0.999 D;P;P 0.66497 0.944;0.855;0.855 T 0.08932 -1.0698 10 0.66056 D 0.02 . 18.1012 0.89505 0.0:0.0:1.0:0.0 . 879;639;712 A8MWY0;A8MWY0-2;B4DJV3 K132L_HUMAN;.;. M 879;639;808;712 ENSP00000413445:T879M;ENSP00000297222:T639M;ENSP00000397377:T808M;ENSP00000402390:T712M ENSP00000297222:T639M T - 2 0 KIAA1324L 86364807 1.000000 0.71417 0.972000 0.41901 0.987000 0.75469 5.667000 0.68067 2.524000 0.85096 0.650000 0.86243 ACG KIAA1324L-005 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000333840.1 27.301989 0 13 53 0 0 1 0 NM_152748 11 30.160310 35 0.239130 BEND3 57673 broad.mit.edu hg19 6 107390354 107390354 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:107390354G>A ENST00000429433.2 - 5 2690 c.2041C>T c.(2041-2043)Cgg>Tgg p.R681W BEND3_ENST00000369042.1_Missense_Mutation_p.R681W NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 681 central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 AACTCCTCCCGGAACCTCTCG 0.637 0 27.0 32.0 30.0 6 107390354 2197 4286 6483 SO:0001583 missense AB046773 CCDS34507.1 6q21 2012-11-22 2008-10-03 2008-10-03 ENSG00000178409 ENSG00000178409 """BEN domain containing""" 23040 protein-coding gene gene with protein product """KIAA1553""" KIAA1553 Standard NM_001080450 Approved uc003prs.2 Q5T5X7 OTTHUMG00000015308 ENST00000369042.1:c.2041C>T 6.37:g.107390354G>A ENSP00000358038:p.Arg681Trp A2RRH2|Q9HCL9 ENST00000369042.1 37 CCDS34507.1 . . . . . . . . . . G 14.65 2.597851 0.46318 . . ENSG00000178409 ENST00000369042;ENST00000429433 . . . 4.62 3.72 0.42706 . 0.065887 0.64402 D 0.000020 T 0.36110 0.0955 N 0.19112 0.55 0.41525 D 0.988425 D 0.69078 0.997 P 0.53490 0.727 T 0.42849 -0.9427 9 0.87932 D 0 -3.1108 11.9824 0.53127 0.0:0.0:0.5577:0.4423 . 681 Q5T5X7 BEND3_HUMAN W 681 . ENSP00000358038:R681W R - 1 2 BEND3 107497047 1.000000 0.71417 0.995000 0.50966 0.938000 0.57974 2.954000 0.49113 1.238000 0.43771 0.455000 0.32223 CGG BEND3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041686.1 12.227919 0 -22 42 0 0 1 0 NM_020913 6 16.019763 30 0.166667 RUNX1 861 broad.mit.edu hg19 21 36171666 36171666 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr21:36171666G>A ENST00000344691.4 - 5 2395 c.818C>T c.(817-819)aCg>aTg p.T273M RUNX1_ENST00000437180.1_Missense_Mutation_p.T300M|RUNX1_ENST00000399240.1_Missense_Mutation_p.T209M|RUNX1_ENST00000325074.5_Missense_Mutation_p.T288M|RUNX1_ENST00000300305.3_Missense_Mutation_p.T300M NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 273 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 TGAAATGGGCGTTGCTGGGTG 0.522 1 186.0 158.0 168.0 21 36171666 2203 4300 6503 SO:0001583 missense X79549 CCDS13639.1, CCDS42922.1, CCDS46646.1 21q22.3 2014-09-17 2008-07-29 ENSG00000159216 ENSG00000159216 10471 protein-coding gene gene with protein product """aml1 oncogene""" 151385 """acute myeloid leukemia 1""" AML1, CBFA2 1427868, 7835892 Standard NM_001001890 Approved PEBP2A2, AMLCR1 uc010gmv.3 Q01196 OTTHUMG00000086299 ENST00000300305.3:c.899C>T 21.37:g.36171666G>A ENSP00000300305:p.Thr300Met A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479 ENST00000300305.3 37 CCDS13639.1 . . . . . . . . . . G 16.08 3.022717 0.54683 . . ENSG00000159216 ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245 D;D;D;D;D 0.88431 -2.38;-2.38;-2.38;-2.38;-2.38 5.78 5.78 0.91487 . 0.201478 0.52532 D 0.000068 D 0.92724 0.7687 M 0.64567 1.98 0.80722 D 1 D;D;D;D;D 0.89917 1.0;0.999;0.999;0.994;1.0 P;P;P;P;P 0.57846 0.828;0.809;0.795;0.799;0.818 D 0.92793 0.6250 10 0.66056 D 0.02 -14.8679 19.6065 0.95583 0.0:0.0:1.0:0.0 . 276;168;300;288;273 C9JK12;Q01196-11;Q01196-8;Q01196-10;Q01196 .;.;.;.;RUNX1_HUMAN M 273;300;300;288;209;34;276 ENSP00000340690:T273M;ENSP00000300305:T300M;ENSP00000409227:T300M;ENSP00000319459:T288M;ENSP00000382184:T209M ENSP00000300305:T300M T - 2 0 RUNX1 35093536 1.000000 0.71417 0.905000 0.35620 0.981000 0.71138 5.201000 0.65163 2.731000 0.93534 0.650000 0.86243 ACG RUNX1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000194231.1 32.779473 0 11 101 0 0 1 0 15 39.469573 62 0.194805 VAV1 7409 broad.mit.edu hg19 19 6836478 6836478 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:6836478G>A ENST00000304076.2 + 20 1907 c.1813G>A c.(1813-1815)Ggg>Agg p.G605R VAV1_ENST00000596764.1_Missense_Mutation_p.G573R|VAV1_ENST00000599806.1_Missense_Mutation_p.G550R|VAV1_ENST00000602142.1_Missense_Mutation_p.G605R|VAV1_ENST00000539284.1_Missense_Mutation_p.G508R NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 605 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GGAATACTACGGGCTTCCTCC 0.557 0 72.0 60.0 64.0 19 6836478 2203 4300 6503 SO:0001583 missense CCDS12174.1, CCDS59341.1, CCDS59342.1 19p13.2 2013-02-14 2007-07-25 ENSG00000141968 """Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing""" 12657 protein-coding gene gene with protein product 164875 """vav 1 oncogene""" VAV 9438848 Standard NM_005428 Approved uc010xjh.2 P15498 ENST00000602142.1:c.1813G>A 19.37:g.6836478G>A ENSP00000472929:p.Gly605Arg B4DVK9|M0QXX6|Q15860 ENST00000602142.1 37 CCDS12174.1 . . . . . . . . . . G 17.39 3.376527 0.61735 . . ENSG00000141968 ENST00000304076;ENST00000539284 T;T 0.75589 1.44;-0.95 4.29 4.29 0.51040 Src homology-3 domain (2); 0.183893 0.46442 D 0.000299 D 0.82472 0.5044 M 0.67700 2.07 0.49687 D 0.999813 D;D;D;D 0.76494 0.997;0.983;0.999;0.997 P;P;P;P 0.61397 0.826;0.552;0.888;0.888 D 0.85005 0.0902 10 0.72032 D 0.01 . 14.2896 0.66268 0.0:0.0:1.0:0.0 . 508;605;550;605 F5H5P4;B2R8B5;Q96D37;P15498 .;.;.;VAV_HUMAN R 605;508 ENSP00000302269:G605R;ENSP00000443242:G508R ENSP00000302269:G605R G + 1 0 VAV1 6787478 1.000000 0.71417 0.160000 0.22671 0.790000 0.44656 6.684000 0.74538 1.963000 0.57068 0.478000 0.44815 GGG VAV1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458475.1 5.512118 0 10 47 0 0 1 0 3 7.860565 17 0.150000 KCNE3 10008 broad.mit.edu hg19 11 74168452 74168452 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:74168452G>A ENST00000310128.4 - 3 576 c.157C>T c.(157-159)Cgt>Tgt p.R53C KCNE3_ENST00000525550.1_Missense_Mutation_p.R53C|RP11-702H23.4_ENST00000533008.1_RNA NM_005472.4 NP_005463.1 Q9Y6H6 KCNE3_HUMAN potassium voltage-gated channel, Isk-related family, member 3 53 integral to membrane voltage-gated potassium channel activity cervix(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(11;2.86e-06) TTGTCATCACGGCCAGGTAGG 0.557 0 72.0 63.0 66.0 11 74168452 2200 4293 6493 SO:0001583 missense AF076531 CCDS8232.1 11q13.4 2014-09-17 ENSG00000175538 """Potassium channels""" 6243 protein-coding gene gene with protein product 604433 10219239 Standard NM_005472 Approved MiRP2, HOKPP uc001ovc.3 Q9Y6H6 ENST00000310128.4:c.157C>T 11.37:g.74168452G>A ENSP00000310557:p.Arg53Cys ENST00000310128.4 37 CCDS8232.1 . . . . . . . . . . G 17.79 3.475627 0.63737 0.0 1.16E-4 ENSG00000175538 ENST00000310128;ENST00000525550;ENST00000532569 D;D;D 0.92249 -3.0;-3.0;-3.0 5.33 4.42 0.53409 . 0.080554 0.51477 D 0.000093 D 0.88097 0.6345 L 0.54323 1.7 0.45690 D 0.9986 B 0.21753 0.06 B 0.15484 0.013 D 0.85115 0.0965 10 0.87932 D 0 -15.8816 6.9987 0.24797 0.0859:0.0:0.7444:0.1696 . 53 Q9Y6H6 KCNE3_HUMAN C 53 ENSP00000310557:R53C;ENSP00000433633:R53C;ENSP00000431739:R53C ENSP00000310557:R53C R - 1 0 KCNE3 73846100 1.000000 0.71417 0.928000 0.36995 0.691000 0.40173 2.888000 0.48594 1.485000 0.48380 0.561000 0.74099 CGT KCNE3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385531.1 41.257627 0 5 47 0 0 1 0 NM_005472 13 41.257627 13 0.500000 TMTC3 160418 broad.mit.edu hg19 12 88566445 88566445 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:88566445C>T ENST00000266712.6 + 8 1342 c.1122C>T c.(1120-1122)gcC>gcT p.A374A NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 374 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 TTGTTGTTGCCGAGCGAGTAT 0.353 0 123.0 120.0 121.0 12 88566445 2203 4299 6502 SO:0001819 synonymous_variant CCDS9032.1 12q21.32 2014-09-04 ENSG00000139324 ENSG00000139324 """Tetratricopeptide (TTC) repeat domain containing""" 26899 protein-coding gene gene with protein product Standard NM_181783 Approved FLJ90492, SMILE uc001tau.3 Q6ZXV5 OTTHUMG00000169887 ENST00000266712.6:c.1122C>T 12.37:g.88566445C>T Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50 ENST00000266712.6 37 CCDS9032.1 TMTC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406421.1 48.214545 0 -12 127 0 0 1 0 NM_181783 18 52.660036 56 0.243243 MUM1 84939 broad.mit.edu hg19 19 1360196 1360196 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:1360196C>T ENST00000311401.5 + 5 458 c.72C>T c.(70-72)cgC>cgT p.R24R MUM1_ENST00000415183.3_Silent_p.R93R|MUM1_ENST00000591806.1_Silent_p.R93R|MUM1_ENST00000344663.3_Silent_p.R93R Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 92 chromatin organization|DNA repair nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCGCTTCGCGTGGCTCTGG 0.587 0 75.0 73.0 74.0 19 1360196 2203 4300 6503 SO:0001819 synonymous_variant AK075241 CCDS12062.1 19p13.3 2008-02-05 ENSG00000160953 29641 protein-coding gene gene with protein product 11042152, 7644523 Standard NM_032853 Approved MUM-1 uc002lrz.2 Q2TAK8 ENST00000415183.3:c.279C>T 19.37:g.1360196C>T A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67 ENST00000415183.3 37 MUM1-016 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000449510.1 12.897864 0 7 64 0 0 1 0 NM_032853 7 17.323760 35 0.166667 ASB10 136371 broad.mit.edu hg19 7 150878399 150878399 + Missense_Mutation SNP C C T rs104886476 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:150878399C>T ENST00000422024.1 - 3 991 c.866G>A c.(865-867)cGc>cAc p.R289H ASB10_ENST00000377867.3_Missense_Mutation_p.R229H|ASB10_ENST00000275838.1_Missense_Mutation_p.R244H|ASB10_ENST00000420175.2_Missense_Mutation_p.R244H|ASB10_ENST00000434669.1_Missense_Mutation_p.R289H NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 244 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCGGCATTGCGGGCATCAGG 0.657 0 35.0 35.0 35.0 7 150878399 2203 4300 6503 SO:0001583 missense AK055536 CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2 7q35 2014-02-04 2011-01-25 ENSG00000146926 ENSG00000146926 """Ankyrin repeat domain containing""" 17185 protein-coding gene gene with protein product 615054 """ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)""" GLC1F 22156576 Standard NM_080871 Approved uc003wjm.1 Q8WXI3 OTTHUMG00000157013 ENST00000420175.2:c.731G>A 7.37:g.150878399C>T ENSP00000391137:p.Arg244His A0AVH0|Q6ZUL6 ENST00000420175.2 37 CCDS47750.2 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 C 15.25 2.779284 0.49891 . . ENSG00000146926 ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175 T;T;T;T;T 0.68181 -0.31;-0.31;-0.31;-0.31;-0.31 5.24 3.4 0.38934 Ankyrin repeat-containing domain (3); 0.191712 0.46145 D 0.000311 T 0.72179 0.3428 L 0.58583 1.82 0.28234 N 0.925985 D;D;D 0.71674 0.989;0.995;0.998 P;P;P 0.61201 0.817;0.885;0.862 T 0.64162 -0.6472 10 0.46703 T 0.11 -7.3683 8.1899 0.31361 0.0:0.696:0.0:0.304 . 229;244;289 Q8WXI3-3;Q8WXI3;D5MNW9 .;ASB10_HUMAN;. H 244;229;289;289;244 ENSP00000275838:R244H;ENSP00000367098:R229H;ENSP00000401369:R289H;ENSP00000398247:R289H;ENSP00000391137:R244H ENSP00000275838:R244H R - 2 0 ASB10 150509332 0.001000 0.12720 0.489000 0.27452 0.464000 0.32679 0.288000 0.18939 1.339000 0.45563 0.655000 0.94253 CGC ASB10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347096.3 7.083566 0 3 32 0 0 1 0 NM_080871 4 10.291033 23 0.148148 SPAG5 10615 broad.mit.edu hg19 17 26912882 26912882 + Splice_Site SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:26912882C>T ENST00000321765.5 - 7 2072 c.1740G>A c.(1738-1740)gcG>gcA p.A580A NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 580 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) GTCACCTTACCGCATCCTTGC 0.498 0 218.0 191.0 200.0 17 26912882 2203 4300 6503 SO:0001630 splice_region_variant AF063308 CCDS32594.1 17q11.2 2008-07-18 ENSG00000076382 ENSG00000076382 13452 protein-coding gene gene with protein product """mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126""" 615562 11549262 Standard NM_006461 Approved DEEPEST, MAP126, hMAP126 uc002hbq.3 Q96R06 OTTHUMG00000166586 ENST00000321765.5:c.1740+1G>A 17.37:g.26912882C>T O95213|Q9BWE8|Q9NT17|Q9UFE6 ENST00000321765.5 37 CCDS32594.1 SPAG5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390564.2 51.090374 0 -11 150 0 0 1 0 NM_006461 22 60.501473 89 0.198198 ITGA5 3678 broad.mit.edu hg19 12 54799459 54799459 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:54799459G>A ENST00000293379.4 - 11 1266 c.1005C>T c.(1003-1005)gtC>gtT p.V335V RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 335 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CATCCCCATTGACGTCTGTGG 0.547 0 87.0 74.0 78.0 12 54799459 2203 4300 6503 SO:0001819 synonymous_variant CCDS8880.1 12q11-q13 2010-03-23 ENSG00000161638 """CD molecules"", ""Integrins""" 6141 protein-coding gene gene with protein product 135620 FNRA 2454952 Standard NM_002205 Approved CD49e uc001sga.3 P08648 OTTHUMG00000169841 ENST00000293379.4:c.1005C>T 12.37:g.54799459G>A Q96HA5 ENST00000293379.4 37 CCDS8880.1 ITGA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406174.1 119.953345 0 4 80 0 0 1 0 38 121.183376 20 0.655172 TNXB 7148 broad.mit.edu hg19 6 32017060 32017060 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:32017060G>A ENST00000375244.3 - 28 9945 c.9744C>T c.(9742-9744)acC>acT p.T3248T TNXB_ENST00000375247.2_Silent_p.T3246T P22105 TENX_HUMAN tenascin XB 3293 Fibronectin type-III 24. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGATGCCCACGGTGGACACTG 0.637 0 29.0 31.0 30.0 6 32017060 1295 2542 3837 SO:0001819 synonymous_variant X71923 CCDS4736.1 6p21.3 2013-02-11 ENSG00000168477 ENSG00000168477 """Fibrinogen C domain containing"", ""Fibronectin type III domain containing""" 11976 protein-coding gene gene with protein product 600985 TNXB1, TNXB2 8530023 Standard NM_019105 Approved TNXBS, XBS, XB uc021yvf.2 P22105 OTTHUMG00000031088 ENST00000375244.3:c.9744C>T 6.37:g.32017060G>A P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7 ENST00000375244.3 37 TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000268927.2 9.791913 0 -15 25 0 0 1 0 NM_019105 4 11.068474 14 0.222222 CDH7 1005 broad.mit.edu hg19 18 63511118 63511118 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:63511118G>A ENST00000536984.2 + 7 1746 c.1052G>A c.(1051-1053)cGc>cAc p.R351H CDH7_ENST00000323011.3_Missense_Mutation_p.R351H|CDH7_ENST00000397968.2_Missense_Mutation_p.R351H Q9ULB5 CADH7_HUMAN cadherin 7, type 2 351 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GCCGACCCTCGCTTTCTGAGC 0.443 0 139.0 123.0 128.0 18 63511118 2203 4300 6503 SO:0001583 missense AB035301 CCDS11993.1 18q22.1 2010-01-26 ENSG00000081138 ENSG00000081138 """Cadherins / Major cadherins""" 1766 protein-coding gene gene with protein product 605806 9615235 Standard NM_033646 Approved uc002ljz.3 Q9ULB5 OTTHUMG00000132800 ENST00000397968.2:c.1052G>A 18.37:g.63511118G>A ENSP00000381058:p.Arg351His Q9H157 ENST00000397968.2 37 CCDS11993.1 . . . . . . . . . . G 9.989 1.230364 0.22542 . . ENSG00000081138 ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968 T;T;T 0.38401 1.14;1.14;1.14 5.04 4.17 0.49024 Cadherin (4);Cadherin-like (1); 0.299368 0.37623 N 0.002018 T 0.55337 0.1914 M 0.78223 2.4 0.30939 N 0.726055 P;D 0.71674 0.495;0.998 B;P 0.59056 0.119;0.851 T 0.64058 -0.6496 10 0.52906 T 0.07 . 13.7615 0.62968 0.0742:0.0:0.9258:0.0 . 351;351 F5H5X9;Q9ULB5 .;CADH7_HUMAN H 351 ENSP00000319166:R351H;ENSP00000443030:R351H;ENSP00000381058:R351H ENSP00000319166:R351H R + 2 0 CDH7 61662098 0.998000 0.40836 0.126000 0.21872 0.089000 0.18198 3.288000 0.51739 1.483000 0.48342 0.655000 0.94253 CGC CDH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256217.2 59.521757 0 4 79 0 0 1 0 NM_033646 22 62.692457 55 0.285714 PGAM4 441531 broad.mit.edu hg19 X 77224669 77224669 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:77224669G>A ENST00000458128.1 - 1 466 c.467C>T c.(466-468)cCg>cTg p.P156L ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 156 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 AGTATCCTTCGGACTCTCATA 0.517 0 80.0 76.0 78.0 X 77224669 2203 4295 6498 SO:0001583 missense AF465731 CCDS35338.1 Xq21.1 2011-02-09 2006-02-09 ENSG00000226784 ENSG00000226784 21731 protein-coding gene gene with protein product 300567 """phosphoglycerate mutase family 4""" 11961099, 9370262 Standard NM_001029891 Approved dJ1000K24.1, PGAM3, PGAM-B, PGAM1 uc004ecy.1 Q8N0Y7 OTTHUMG00000057865 ENST00000458128.1:c.467C>T X.37:g.77224669G>A ENSP00000412189:p.Pro156Leu Q5JPN2|Q8NI24|Q8NI25|Q8NI26 ENST00000458128.1 37 CCDS35338.1 . . . . . . . . . . G 0.004 -2.298298 0.00243 . . ENSG00000226784 ENST00000458128 T 0.77098 -1.07 0.119 -0.238 0.13055 Histidine phosphatase superfamily, clade-1 (2); 0.086607 0.47852 N 0.000206 T 0.24736 0.0600 N 0.00017 -2.83 0.23232 N 0.998077 B 0.02656 0.0 B 0.01281 0.0 T 0.47032 -0.9148 9 . . . -23.5549 4.3246 0.11034 0.7113:0.0:0.2887:0.0 . 156 Q8N0Y7 PGAM4_HUMAN L 156 ENSP00000412189:P156L . P - 2 0 PGAM4 77111325 1.000000 0.71417 0.114000 0.21550 0.114000 0.19823 4.188000 0.58351 -1.907000 0.01087 -1.858000 0.00562 CCG PGAM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128371.2 59.877943 0 -14 165 0 0 1 0 NM_001029891 23 65.820323 73 0.239583 DNM1P46 0 broad.mit.edu hg19 15 100332288 100332288 + RNA SNP C C T rs113961788 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:100332288C>T ENST00000341853.1 - 0 1903 NR_003260.1 GGAGACCCACCGGGCCATGCA 0.652 0 74.0 75.0 75.0 15 100332288 876 1991 2867 AJ576275 15q26.3 2013-04-25 ENSG00000182397 ENSG00000182397 35199 pseudogene pseudogene """chromosome 15 open reading frame 51""" DNM1DN14@, C15orf51 Standard NR_003260 Approved DNM1DN14.2, FLJ45937, DKFZp434I1020 uc021sxl.1 Q6ZS02 OTTHUMG00000149852 15.37:g.100332288C>T Q3ZCN3 ENST00000341853.1 37 DNM1P46-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000313543.1 53.201817 0 -5 46 0 0 1 0 NR_003260 16 53.208874 15 0.516129 ZSCAN1 284312 broad.mit.edu hg19 19 58549469 58549469 + Missense_Mutation SNP G G A rs148253808 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:58549469G>A ENST00000282326.1 + 3 512 c.265G>A c.(265-267)Gcg>Acg p.A89T ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 89 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GTTCCTGGGCGCGCTGCCCAG 0.692 1 17.0 17.0 17.0 19 58549469 2197 4294 6491 SO:0001583 missense AK091098 CCDS12969.1 19q13.43 2013-06-13 2004-04-21 ENSG00000152467 ENSG00000152467 """-"", ""Zinc fingers, C2H2-type""" 23712 protein-coding gene gene with protein product """zinc finger with SCAN domain 1""" 12477932 Standard NM_182572 Approved FLJ33779, ZNF915 uc002qrc.1 Q8NBB4 OTTHUMG00000183381 ENST00000282326.1:c.265G>A 19.37:g.58549469G>A ENSP00000282326:p.Ala89Thr Q3B798|Q6WLH8|Q86WS8 ENST00000282326.1 37 CCDS12969.1 . . . . . . . . . . G 17.39 3.378188 0.61735 2.28E-4 0.0 ENSG00000152467 ENST00000391700;ENST00000282326 T;T 0.04360 3.64;3.64 2.08 -1.9 0.07665 Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3); . . . . T 0.05502 0.0145 L 0.38733 1.17 0.09310 N 1 P;P 0.52170 0.95;0.951 P;B 0.51999 0.687;0.404 T 0.32375 -0.9909 9 0.27082 T 0.32 . 1.9367 0.03338 0.3721:0.0:0.362:0.2659 . 89;89 Q8NBB4;Q8NBB4-2 ZSCA1_HUMAN;. T 89 ENSP00000375581:A89T;ENSP00000282326:A89T ENSP00000282326:A89T A + 1 0 ZSCAN1 63241281 0.000000 0.05858 0.034000 0.17996 0.964000 0.63967 0.070000 0.14573 -0.194000 0.10399 0.393000 0.25936 GCG ZSCAN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466427.1 24.897877 0 -6 23 0 0 1 0 NM_182572 8 24.946256 10 0.444444 CYB561 1534 broad.mit.edu hg19 17 61514900 61514900 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:61514900G>A ENST00000584031.1 - 2 308 c.9C>T c.(7-9)ggC>ggT p.G3G CYB561_ENST00000582034.1_Intron|CYB561_ENST00000360793.3_Silent_p.G3G|CYB561_ENST00000448884.2_Silent_p.G3G|CYB561_ENST00000582997.1_Silent_p.G10G|CYB561_ENST00000542042.1_Silent_p.G70G|CYB561_ENST00000392976.1_Silent_p.G3G|CYB561_ENST00000582297.1_Silent_p.G3G|CYB561_ENST00000581573.1_Silent_p.G3G|CYB561_ENST00000392975.2_Silent_p.G3G P49447 CY561_HUMAN cytochrome b561 3 electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding lung(2)|ovary(1)|prostate(1) 4 READ - Rectum adenocarcinoma(1115;0.0689) CCGCGGCCCCGCCCTCCATGC 0.687 0 28.0 29.0 29.0 17 61514900 2202 4298 6500 SO:0001819 synonymous_variant CCDS11636.1 17q23.3 2013-03-14 2013-03-14 ENSG00000008283 ENSG00000008283 """Cytochrome b genes""" 2571 protein-coding gene gene with protein product """ferric-chelate reductase 2"", ""cytochrome b561 family, member A1""" 600019 7959749, 23249217 Standard XM_005257091 Approved FRRS2, CYB561A1 uc002jas.3 P49447 ENST00000392976.1:c.9C>T 17.37:g.61514900G>A B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9 ENST00000392976.1 37 CCDS11636.1 CYB561-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444843.1 26.718150 0 4 18 0 0 1 0 NM_001915 9 26.753753 11 0.450000 IYD 389434 broad.mit.edu hg19 6 150719260 150719260 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:150719260C>T ENST00000344419.3 + 5 897 c.757C>T c.(757-759)Cgc>Tgc p.R253C IYD_ENST00000229447.5_Missense_Mutation_p.P290L NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 253 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) GCTCCTGGGCCGCCCCGCACA 0.557 0 76.0 74.0 75.0 6 150719260 2203 4300 6503 SO:0001583 missense AK129950 CCDS5227.1, CCDS55066.1, CCDS55067.1 6q25.1 2006-08-24 2006-08-24 2006-08-24 ENSG00000009765 ENSG00000009765 21071 protein-coding gene gene with protein product 612025 """chromosome 6 open reading frame 71""" C6orf71 16316988, 15289438 Standard NM_001164694 Approved dJ422F24.1, DEHAL1 uc003qnx.2 Q6PHW0 OTTHUMG00000016347 ENST00000344419.3:c.757C>T 6.37:g.150719260C>T ENSP00000343763:p.Arg253Cys C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8 ENST00000344419.3 37 CCDS5227.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 21.5|21.5 4.164931|4.164931 0.78339|0.78339 .|. .|. ENSG00000009765|ENSG00000009765 ENST00000229447|ENST00000344419 D|T 0.89343|0.76186 -2.5|-1.0 6.06|6.06 6.06|6.06 0.98353|0.98353 .|Nitroreductase-like (3); 0.055170|. 0.64402|. D|. 0.000001|. D|D 0.88991|0.88991 0.6588|0.6588 M|M 0.91196|0.91196 3.185|3.185 0.80722|0.80722 D|D 1|1 P|D 0.36483|0.89917 0.555|1.0 B|D 0.24394|0.91635 0.053|0.999 D|D 0.89371|0.89371 0.3675|0.3675 10|9 0.87932|0.62326 D|D 0|0.03 -30.6384|-30.6384 20.6244|20.6244 0.99512|0.99512 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 290|253 C9JFW2|Q6PHW0 .|IYD1_HUMAN L|C 290|253 ENSP00000229447:P290L|ENSP00000343763:R253C ENSP00000229447:P290L|ENSP00000343763:R253C P|R +|+ 2|1 0|0 IYD|IYD 150760953|150760953 1.000000|1.000000 0.71417|0.71417 0.778000|0.778000 0.31720|0.31720 0.515000|0.515000 0.34225|0.34225 4.631000|4.631000 0.61304|0.61304 2.879000|2.879000 0.98667|0.98667 0.650000|0.650000 0.86243|0.86243 CCG|CGC IYD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043754.3 2.297431 0 10 115 0 0 1 0 NM_203395 6 14.473740 64 0.085714 CHIT1 1118 broad.mit.edu hg19 1 203194835 203194835 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:203194835G>A ENST00000367229.1 - 3 253 c.219C>T c.(217-219)gaC>gaT p.D73D CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.D73D|CHIT1_ENST00000535569.1_Silent_p.D83D NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 73 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 AGAGAGTCTCGTCATTCCACT 0.577 0 136.0 127.0 130.0 1 203194835 2203 4300 6503 SO:0001819 synonymous_variant U29615 CCDS1436.1, CCDS58057.1 1q32.1 2013-06-06 ENSG00000133063 ENSG00000133063 1936 protein-coding gene gene with protein product 600031 9748235, 9492324 Standard NM_003465 Approved CHIT, CHI3 uc001gzn.2 Q13231 OTTHUMG00000042126 ENST00000367229.1:c.219C>T 1.37:g.203194835G>A B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8 ENST00000367229.1 37 CCDS1436.1 CHIT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000100275.2 15.602403 0 3 70 0 0 1 0 NM_003465 7 19.157159 31 0.184211 NGRN 51335 broad.mit.edu hg19 15 90814997 90814997 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:90814997G>A ENST00000379095.3 + 3 861 c.853G>A c.(853-855)Ggg>Agg p.G285R RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR NM_001033088.1 NP_001028260.2 Q9NPE2 NGRN_HUMAN neugrin, neurite outgrowth associated 285 neuron differentiation extracellular region|nucleus kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) TGACAGCAACGGGAACTTCCT 0.498 0 48.0 47.0 47.0 15 90814997 2199 4298 6497 SO:0001583 missense AB029315 CCDS32329.1 15q26.1 2008-02-05 ENSG00000182768 ENSG00000182768 18077 protein-coding gene gene with protein product 11118320 Standard NR_028052 Approved DSC92 uc002bpf.1 Q9NPE2 OTTHUMG00000149807 ENST00000379095.3:c.853G>A 15.37:g.90814997G>A ENSP00000368389:p.Gly285Arg B2R6M8|Q4V9L7|Q9HBL4 ENST00000379095.3 37 CCDS32329.1 . . . . . . . . . . G 15.52 2.858793 0.51376 . . ENSG00000182768 ENST00000379095 T 0.61980 0.06 5.13 5.13 0.70059 . 0.000000 0.64402 U 0.000007 T 0.60470 0.2271 L 0.58428 1.81 0.80722 D 1 P 0.43024 0.798 B 0.39068 0.289 T 0.68108 -0.5496 10 0.87932 D 0 . 16.4285 0.83832 0.0:0.0:1.0:0.0 . 285 Q9NPE2 NGRN_HUMAN R 285 ENSP00000368389:G285R ENSP00000368389:G285R G + 1 0 NGRN 88616001 1.000000 0.71417 1.000000 0.80357 0.303000 0.27691 6.893000 0.75649 2.540000 0.85666 0.460000 0.39030 GGG NGRN-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313418.1 0.962719 0 3 80 0 0 1 0 4 9.693841 45 0.081633 IGSF9B 22997 broad.mit.edu hg19 11 133807352 133807352 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:133807352G>A ENST00000321016.8 - 5 828 c.598C>T c.(598-600)Cgg>Tgg p.R200W IGSF9B_ENST00000533871.2_Missense_Mutation_p.R200W Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 200 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGTCCTCCCGACTGACCGAT 0.607 0 68.0 77.0 74.0 11 133807352 2159 4240 6399 SO:0001583 missense AK097578 CCDS61010.1 11q25 2013-02-11 2005-10-12 2005-11-20 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 32326 protein-coding gene gene with protein product 613773 Standard NM_001277285 Approved KIAA1030 uc031qfh.1 Q9UPX0 ENST00000533871.2:c.598C>T 11.37:g.133807352G>A ENSP00000436552:p.Arg200Trp G5EA26 ENST00000533871.2 37 . . . . . . . . . . G 24.6 4.543952 0.86022 . . ENSG00000080854 ENST00000321016;ENST00000533871;ENST00000527648;ENST00000533160 T;T;T;D 0.96300 -0.73;-1.17;-0.73;-3.97 5.54 4.61 0.57282 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . D 0.97692 0.9243 M 0.72624 2.21 0.47374 D 0.9994 D 0.89917 1.0 D 0.81914 0.995 D 0.98333 1.0534 9 0.87932 D 0 . 15.4874 0.75578 0.0:0.0:0.8532:0.1468 . 200 Q9UPX0 TUTLB_HUMAN W 200;42;200;190 ENSP00000317980:R200W;ENSP00000436552:R42W;ENSP00000436576:R200W;ENSP00000434026:R190W ENSP00000317980:R200W R - 1 2 IGSF9B 133312562 1.000000 0.71417 0.998000 0.56505 0.997000 0.91878 5.899000 0.69846 1.290000 0.44636 0.561000 0.74099 CGG IGSF9B-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000471431.1 62.662515 0 7 74 0 0 1 0 XM_290502 21 62.752623 17 0.552632 L3MBTL2 83746 broad.mit.edu hg19 22 41621887 41621887 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:41621887C>T ENST00000216237.5 + 12 1604 c.1446C>T c.(1444-1446)caC>caT p.H482H NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 482 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCTCTTCCCACGCCATCTTCC 0.572 0 115.0 81.0 93.0 22 41621887 2203 4300 6503 SO:0001819 synonymous_variant AJ305226 CCDS14011.1 22q13.31-q13.33 2008-06-11 ENSG00000100395 ENSG00000100395 18594 protein-coding gene gene with protein product 611865 11682070 Standard NM_031488 Approved H-l(3)mbt-l, DKFZP761I141, dJ756G23.3 uc003azo.3 Q969R5 OTTHUMG00000150942 ENST00000216237.5:c.1446C>T 22.37:g.41621887C>T Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4 ENST00000216237.5 37 CCDS14011.1 L3MBTL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320613.1 36.654436 0 5 54 0 0 1 0 NM_031488 13 37.269803 23 0.361111 TMTC1 83857 broad.mit.edu hg19 12 29671410 29671410 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:29671410G>A ENST00000256062.5 - 13 2168 c.1695C>T c.(1693-1695)taC>taT p.Y565Y TMTC1_ENST00000552618.1_Silent_p.Y697Y|TMTC1_ENST00000539277.1_Silent_p.Y673Y|TMTC1_ENST00000551659.1_Silent_p.Y735Y|TMTC1_ENST00000319685.8_5'UTR NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 673 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TTTACCGCTTGTACCATTCTT 0.463 0 184.0 166.0 172.0 12 29671410 2203 4300 6503 SO:0001819 synonymous_variant CCDS8718.1, CCDS53772.1 12p11.22 2014-06-09 2006-01-06 ENSG00000133687 """Tetratricopeptide (TTC) repeat domain containing""" 24099 protein-coding gene gene with protein product 615855 24764305 Standard NM_001193451 Approved ARG99, OLF, FLJ31400, FLJ41625 uc021qwi.1 Q8IUR5 OTTHUMG00000169324 ENST00000551659.1:c.2205C>T 12.37:g.29671410G>A D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2 ENST00000551659.1 37 TMTC1-010 NOVEL not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000403505.1 157.318746 0 -34 121 0 0 1 0 NM_031920 51 157.320905 52 0.495146 PRKDC 5591 ucsc.edu hg19 8 48849060 48849060 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 G G Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe CATCTTTTGCGTTTATAACCT 0.403 0 114.0 114.0 114.0 8 48849060 1994 4166 6160 SO:0001819 synonymous_variant CCDS75734.1, CCDS75735.1 8q11 2014-09-17 ENSG00000253729 9413 protein-coding gene gene with protein product 600899 HYRC, HYRC1 7638222 Standard NM_001081640 Approved DNPK1, p350, DNAPK, XRCC7, DNA-PKcs uc003xqi.3 P78527 ENST00000314191.2:c.1131C>T 8.37:g.48849060G>A P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3 ENST00000314191.2 37 PRKDC-201 KNOWN basic|appris_principal protein_coding protein_coding 4 53 NM_001081640 14 24 CNTN1 1272 broad.mit.edu hg19 12 41421732 41421732 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:41421732C>T ENST00000551295.2 + 22 2901 c.2784C>T c.(2782-2784)gtC>gtT p.V928V CNTN1_ENST00000347616.1_Silent_p.V928V|CNTN1_ENST00000348761.2_Silent_p.V917V NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 928 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GGGATCATGTCGTTGCACTAT 0.388 0 153.0 133.0 140.0 12 41421732 2203 4300 6503 SO:0001819 synonymous_variant Z21488 CCDS8737.1, CCDS8738.1, CCDS58225.1 12q11-q12 2014-01-30 ENSG00000018236 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands""" 2171 protein-coding gene gene with protein product """glycoprotein gP135""" 600016 7959734, 8586965 Standard NM_001843 Approved F3, GP135 uc031qgz.1 Q12860 ENST00000551295.2:c.2784C>T 12.37:g.41421732C>T A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466 ENST00000551295.2 37 CCDS8737.1 CNTN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403692.2 16.003220 0 7 66 0 0 1 0 NM_001843 7 19.346772 30 0.189189 PDGFRA 5156 broad.mit.edu hg19 4 55146591 55146591 + Silent SNP C C T rs149659832 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:55146591C>T ENST00000257290.5 + 16 2596 c.2265C>T c.(2263-2265)tcC>tcT p.S755S FIP1L1_ENST00000507166.1_Silent_p.S515S NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 755 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) CTAAATATTCCGACATCCAGA 0.398 0 85.0 82.0 83.0 4 55146591 2203 4300 6503 SO:0001819 synonymous_variant D50001 CCDS3495.1 4q12 2014-09-17 ENSG00000134853 ENSG00000134853 """CD molecules"", ""Immunoglobulin superfamily / I-set domain containing""" 8803 protein-coding gene gene with protein product 173490 Standard NM_006206 Approved CD140a, PDGFR2 uc003han.4 P16234 OTTHUMG00000128699 ENST00000257290.5:c.2265C>T 4.37:g.55146591C>T B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28 ENST00000257290.5 37 CCDS3495.1 PDGFRA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250598.2 72.018350 0 -2 63 0 0 1 0 NM_006206 23 72.219599 30 0.433962 RP11-565P22.6 9722 broad.mit.edu hg19 1 162336952 162336952 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:162336952G>A ENST00000493151.1 + 2 2698 c.331G>A c.(331-333)Gcg>Acg p.A111T NOS1AP_ENST00000530878.1_Missense_Mutation_p.A401T|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.A92T|NOS1AP_ENST00000361897.5_Missense_Mutation_p.A406T NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 406 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GCCGCTGGGCGCGGGCTTGGC 0.662 0 64.0 74.0 70.0 1 162336952 2203 4300 6503 SO:0001583 missense ENST00000431696.1:c.274G>A 1.37:g.162336952G>A ENSP00000405676:p.Ala92Thr ENST00000431696.1 37 . . . . . . . . . . G 13.71 2.319171 0.41096 . . ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000254706 ENST00000530878;ENST00000361897;ENST00000464284;ENST00000493151;ENST00000431696 T;T 0.77098 -1.07;-1.07 4.96 1.56 0.23342 . 0.285831 0.38959 N 0.001520 T 0.31263 0.0791 N 0.14661 0.345 . . . B;B;B 0.23249 0.007;0.082;0.05 B;B;B 0.14023 0.002;0.01;0.01 T 0.02852 -1.1102 9 0.19590 T 0.45 . 2.9688 0.05916 0.1037:0.2697:0.4768:0.1498 . 111;401;406 Q3T551;B7ZLF5;O75052 .;.;CAPON_HUMAN T 401;406;62;111;92 ENSP00000431586:A401T;ENSP00000355133:A406T ENSP00000355133:A406T A + 1 0 NOS1AP;RP11-565P22.6 160603576 0.425000 0.25498 0.999000 0.59377 0.997000 0.91878 1.432000 0.34936 0.553000 0.29044 0.655000 0.94253 GCG RP11-565P22.6-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding protein_coding OTTHUMT00000382765.1 86.714231 0 -10 102 0 0 1 0 30 87.374892 45 0.400000 YAP1 10413 broad.mit.edu hg19 11 102094425 102094425 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:102094425G>A ENST00000282441.5 + 7 1493 c.1105G>A c.(1105-1107)Ggg>Agg p.G369R YAP1_ENST00000524575.1_Missense_Mutation_p.G191R|YAP1_ENST00000537274.1_Missense_Mutation_p.G357R|YAP1_ENST00000345877.2_Missense_Mutation_p.G319R|YAP1_ENST00000526343.1_Missense_Mutation_p.G315R|YAP1_ENST00000531439.1_Missense_Mutation_p.G353R NM_001130145.2|NM_001282101.1 NP_001123617.1|NP_001269030.1 P46937 YAP1_HUMAN Yes-associated protein 1 369 Transactivation domain. cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 all_cancers(8;0.000575)|all_epithelial(12;0.00564) Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0189) GTCTTCTCCCGGGATGTCTCA 0.438 0 110.0 99.0 103.0 11 102094425 2203 4299 6502 SO:0001583 missense CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1 11q13 2010-03-19 2010-03-19 ENSG00000137693 ENSG00000137693 16262 protein-coding gene gene with protein product 606608 """Yes-associated protein 1, 65kDa""" 7782338 Standard NM_001130145 Approved YAP65 uc001pgt.3 P46937 OTTHUMG00000167322 ENST00000524575.1:c.571G>A 11.37:g.102094425G>A ENSP00000435602:p.Gly191Arg B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9 ENST00000524575.1 37 CCDS53700.1 . . . . . . . . . . G 24.9 4.577182 0.86645 . . ENSG00000137693 ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575 T;T;T 0.43688 0.94;0.98;0.94 5.49 5.49 0.81192 . 0.134476 0.48767 D 0.000162 T 0.56124 0.1964 L 0.29908 0.895 0.80722 D 1 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 0.997;1.0;0.999;0.956;0.999;1.0 T 0.58691 -0.7592 10 0.87932 D 0 . 19.7375 0.96212 0.0:0.0:1.0:0.0 . 191;286;315;353;369;319 B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3 .;.;.;.;YAP1_HUMAN;. R 315;369;357;319;286;353;191 ENSP00000434134:G315R;ENSP00000331023:G319R;ENSP00000435602:G191R ENSP00000282441:G369R G + 1 0 YAP1 101599635 1.000000 0.71417 0.969000 0.41365 0.977000 0.68977 7.506000 0.81665 2.753000 0.94483 0.555000 0.69702 GGG YAP1-004 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000394153.1 107.776643 0 -3 77 0 0 1 0 NM_006106 33 107.780013 32 0.507692 MERTK 10461 broad.mit.edu hg19 2 112705055 112705055 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:112705055C>T ENST00000295408.4 + 4 925 c.668C>T c.(667-669)cCg>cTg p.P223L MERTK_ENST00000421804.2_Missense_Mutation_p.P223L|MERTK_ENST00000409780.1_Missense_Mutation_p.P47L Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 223 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GCTGTGGGCCCGCCTGAGCCC 0.517 0 73.0 74.0 74.0 2 112705055 2203 4300 6503 SO:0001583 missense U08023 CCDS2094.1 2q14.1 2014-06-26 2014-06-26 ENSG00000153208 ENSG00000153208 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 7027 protein-coding gene gene with protein product 604705 """c-mer proto-oncogene tyrosine kinase""" 8086340, 10343112 Standard XM_005263565 Approved mer, RP38 uc002thk.1 Q12866 OTTHUMG00000131278 ENST00000295408.4:c.668C>T 2.37:g.112705055C>T ENSP00000295408:p.Pro223Leu Q9HBB4 ENST00000295408.4 37 CCDS2094.1 . . . . . . . . . . C 25.0 4.590406 0.86851 . . ENSG00000153208 ENST00000295408;ENST00000421804;ENST00000409780 T;T;T 0.12361 2.69;2.69;2.69 5.24 5.24 0.73138 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.33290 U 0.005068 T 0.35158 0.0922 L 0.55834 1.745 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 T 0.03344 -1.1046 10 0.87932 D 0 -21.076 18.7692 0.91883 0.0:1.0:0.0:0.0 . 223 Q12866 MERTK_HUMAN L 223;223;47 ENSP00000295408:P223L;ENSP00000389152:P223L;ENSP00000387277:P47L ENSP00000295408:P223L P + 2 0 MERTK 112421526 0.999000 0.42202 0.956000 0.39512 0.909000 0.53808 5.740000 0.68629 2.608000 0.88229 0.655000 0.94253 CCG MERTK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254046.2 77.766914 0 -13 56 0 0 1 0 25 77.866011 30 0.454545 UNC5C 8633 broad.mit.edu hg19 4 96163728 96163728 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:96163728C>T ENST00000453304.1 - 7 1308 c.960G>A c.(958-960)acG>acA p.T320T UNC5C_ENST00000506749.1_Silent_p.T320T NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 320 TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGCTCCATGGCGTCCACCTGC 0.567 0 26.0 21.0 23.0 4 96163728 2203 4300 6503 SO:0001819 synonymous_variant AF055634 CCDS3643.1 4q21-q23 2013-01-11 2001-11-28 ENSG00000182168 ENSG00000182168 """Immunoglobulin superfamily / I-set domain containing""" 12569 protein-coding gene gene with protein product 603610 """unc5 (C.elegans homolog) c""" 9126742, 9782087 Standard NM_003728 Approved uc003hto.3 O95185 OTTHUMG00000130989 ENST00000506749.1:c.960G>A 4.37:g.96163728C>T Q8IUT0 ENST00000506749.1 37 UNC5C-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000363048.2 21.421512 0 7 26 0 0 1 0 NM_003728 7 21.616008 11 0.388889 XIST 0 broad.mit.edu hg19 X 73071059 73071059 + RNA SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:73071059G>A ENST00000429829.1 - 0 1529 NR_001564.2 TTAACAATGCGGCAAGCCCGC 0.517 0 117.0 112.0 114.0 X 73071059 876 1991 2867 M97168 Xq13.2 2013-12-18 2013-02-07 ENSG00000229807 ENSG00000229807 """Long non-coding RNAs"", ""-""" 12810 non-coding RNA RNA, long non-coding """long intergenic non-protein coding RNA 1""" 314670 """X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)""" DXS399E 1985261, 2034279 Standard NR_001564 Approved NCRNA00001, DXS1089, swd66, LINC00001 uc004ebm.2 OTTHUMG00000021839 X.37:g.73071059G>A ENST00000429829.1 37 XIST-001 KNOWN basic lincRNA lincRNA OTTHUMT00000057239.1 86.953968 0 -18 122 0 0 1 0 NR_001564 32 87.439529 45 0.415584 FRAS1 80144 broad.mit.edu hg19 4 79334177 79334177 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:79334177G>A ENST00000264895.6 + 32 4803 c.4363G>A c.(4363-4365)Gcg>Acg p.A1455T FRAS1_ENST00000325942.6_Missense_Mutation_p.A1455T NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1454 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GTTCAACATCGCGATCTTACC 0.512 0 124.0 126.0 125.0 4 79334177 1980 4163 6143 SO:0001583 missense AB040933 CCDS54772.1 4q21.21 2014-06-25 2014-06-25 ENSG00000138759 ENSG00000138759 19185 protein-coding gene gene with protein product 607830 """Fraser syndrome 1""" 12766769, 3118036 Standard NM_025074 Approved FLJ22031, FLJ14927, KIAA1500 uc003hlb.2 Q86XX4 OTTHUMG00000160856 ENST00000325942.6:c.4363G>A 4.37:g.79334177G>A ENSP00000326330:p.Ala1455Thr A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228 ENST00000325942.6 37 CCDS54772.1 . . . . . . . . . . G 16.13 3.034512 0.54896 . . ENSG00000138759 ENST00000325942;ENST00000264895 T;T 0.51325 0.71;0.71 6.17 6.17 0.99709 . 0.114253 0.64402 D 0.000014 T 0.57784 0.2077 N 0.25485 0.75 0.80722 D 1 D;D 0.89917 0.997;1.0 P;D 0.66716 0.743;0.946 T 0.50013 -0.8877 10 0.33141 T 0.24 . 20.8794 0.99867 0.0:0.0:1.0:0.0 . 1455;1455 E9PHH6;A2RRR8 .;. T 1455 ENSP00000326330:A1455T;ENSP00000264895:A1455T ENSP00000264895:A1455T A + 1 0 FRAS1 79553201 1.000000 0.71417 0.972000 0.41901 0.092000 0.18411 6.566000 0.73978 2.941000 0.99782 0.655000 0.94253 GCG FRAS1-001 NOVEL basic|CCDS protein_coding protein_coding OTTHUMT00000362706.2 16.535603 0 2 16 0 0 1 0 6 16.669666 9 0.400000 KCNC1 3746 broad.mit.edu hg19 11 17793391 17793391 + Silent SNP C C T rs147271572 by1000genomes TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:17793391C>T ENST00000379472.3 + 2 780 c.750C>T c.(748-750)ggC>ggT p.G250G KCNC1_ENST00000265969.6_Silent_p.G250G NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 250 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 ACATCGAGGGCGTCTGTGTGG 0.537 0 324.0 267.0 286.0 11 17793391 2200 4293 6493 SO:0001819 synonymous_variant M96747 CCDS7827.1, CCDS44547.1 11p15 2012-07-05 ENSG00000129159 ENSG00000129159 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels""" 6233 protein-coding gene gene with protein product 176258 8449507, 16382104 Standard NM_004976 Approved Kv3.1 uc009yhc.1 P48547 OTTHUMG00000166359 ENST00000265969.6:c.750C>T 11.37:g.17793391C>T K4DI87 ENST00000265969.6 37 CCDS44547.1 KCNC1-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389388.1 83.717002 0 9 144 0 0 1 0 NM_004976 32 85.463620 59 0.351648 THSD4 79875 broad.mit.edu hg19 15 71952898 71952898 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:71952898C>T ENST00000355327.3 + 8 1316 c.1182C>T c.(1180-1182)tcC>tcT p.S394S THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.S394S|THSD4_ENST00000357769.4_Silent_p.S34S Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 394 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACTTAGGCTCCGACAAAGTCG 0.507 0 178.0 179.0 179.0 15 71952898 1975 4171 6146 SO:0001819 synonymous_variant AK023772 CCDS10238.2, CCDS66817.1 15q23 2009-11-09 ENSG00000187720 ENSG00000187720 25835 protein-coding gene gene with protein product 614476 19734141 Standard NM_001286429 Approved FVSY9334, PRO34005, FLJ13710, ADAMTSL6 uc002atb.1 Q6ZMP0 OTTHUMG00000133389 ENST00000355327.3:c.1182C>T 15.37:g.71952898C>T B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4 ENST00000355327.3 37 CCDS10238.2 THSD4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000257253.2 41.956780 0 -27 201 0 0 1 0 NM_024817 22 59.253657 125 0.149660 DHRS3 9249 broad.mit.edu hg19 1 12677172 12677172 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:12677172C>T ENST00000376223.2 - 1 565 c.182G>A c.(181-183)cGc>cAc p.R61H NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 61 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) TCTGGCGCCGCGCTCCGCGAA 0.746 1 19.0 23.0 22.0 1 12677172 2195 4277 6472 SO:0001583 missense AF061741 CCDS146.1 1p36.1 2011-09-20 ENSG00000162496 ENSG00000162496 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3""" 17693 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 16C, member 1""" 612830 9705317, 12226107, 19027726 Standard XM_005263533 Approved retSDR1, Rsdr1, SDR1, RDH17, SDR16C1 uc001auc.3 O75911 OTTHUMG00000001885 ENST00000376223.2:c.182G>A 1.37:g.12677172C>T ENSP00000365397:p.Arg61His B2R7F3|Q5VUY3|Q6UY38|Q9BUC8 ENST00000376223.2 37 CCDS146.1 . . . . . . . . . . C 13.34 2.208849 0.39003 . . ENSG00000162496 ENST00000376223 D 0.88509 -2.39 5.04 5.04 0.67666 NAD(P)-binding domain (1); 0.057178 0.64402 D 0.000001 T 0.81389 0.4812 L 0.35593 1.075 0.49299 D 0.999772 B;B;B 0.28667 0.002;0.219;0.004 B;B;B 0.26310 0.001;0.068;0.002 T 0.76677 -0.2871 10 0.21014 T 0.42 . 10.937 0.47251 0.0:0.9142:0.0:0.0858 . 61;61;61 B2R7F3;O75911-2;O75911 .;.;DHRS3_HUMAN H 61 ENSP00000365397:R61H ENSP00000365397:R61H R - 2 0 DHRS3 12599759 1.000000 0.71417 1.000000 0.80357 0.989000 0.77384 3.571000 0.53841 2.318000 0.78349 0.462000 0.41574 CGC DHRS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000005318.1 15.840722 0 -1 31 0 0 1 0 NM_004753 6 16.706419 15 0.285714 SCN4A 6329 broad.mit.edu hg19 17 62018497 62018497 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:62018497G>A ENST00000435607.1 - 24 5221 c.5145C>T c.(5143-5145)taC>taT p.Y1715Y SCN4A_ENST00000578147.1_Silent_p.Y1715Y NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1715 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 TGATGGGCTCGTAGGACACCT 0.607 0 138.0 137.0 137.0 17 62018497 2094 4218 6312 SO:0001819 synonymous_variant U24693 17q23.3 2012-02-26 2007-01-23 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10591 protein-coding gene gene with protein product 603967 HYKPP 1654742, 1659948, 16382098 Standard XM_005257566 Approved Nav1.4, HYPP, SkM1 uc002jds.1 P35499 ENST00000578147.1:c.5145C>T 17.37:g.62018497G>A Q15478|Q16447|Q7Z6B1 ENST00000578147.1 37 SCN4A-001 KNOWN non_canonical_U12|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000444562.1 72.895300 0 17 101 0 0 1 0 NM_000334 24 72.962129 28 0.461538 PLCB4 5332 broad.mit.edu hg19 20 9389753 9389753 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:9389753G>A ENST00000378501.2 + 20 1903 c.1888G>A c.(1888-1890)Gat>Aat p.D630N PLCB4_ENST00000378493.1_Missense_Mutation_p.D630N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642N NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 630 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AGGCCGAGTCGATTCCAGTAA 0.448 0 67.0 57.0 60.0 20 9389753 2203 4300 6503 SO:0001583 missense CCDS13104.1, CCDS13105.1, CCDS54447.1 20p12 2008-03-18 ENSG00000101333 ENSG00000101333 9059 protein-coding gene gene with protein product 600810 8530101 Standard NM_000933 Approved uc021wam.1 Q15147 OTTHUMG00000031853 ENST00000378501.2:c.1888G>A 20.37:g.9389753G>A ENSP00000367762:p.Asp630Asn B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2 ENST00000378501.2 37 CCDS13104.1 . . . . . . . . . . G 36 5.638738 0.96693 . . ENSG00000101333 ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679 T;T;T;T;T;T 0.56941 0.43;0.43;0.43;0.43;0.43;0.43 6.04 6.04 0.98038 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3); 0.000000 0.85682 D 0.000000 T 0.72463 0.3463 M 0.63428 1.95 0.80722 D 1 P;B;D;P 0.76494 0.869;0.224;0.999;0.909 P;B;D;B 0.76071 0.514;0.084;0.987;0.379 T 0.71391 -0.4607 10 0.62326 D 0.03 . 20.5792 0.99380 0.0:0.0:1.0:0.0 . 642;477;630;630 E2QRH8;Q15147-2;Q15147;Q15147-4 .;.;PLCB4_HUMAN;. N 630;642;630;630;630;478 ENSP00000334105:D630N;ENSP00000367734:D642N;ENSP00000278655:D630N;ENSP00000367754:D630N;ENSP00000367762:D630N;ENSP00000390616:D478N ENSP00000278655:D630N D + 1 0 PLCB4 9337753 1.000000 0.71417 0.997000 0.53966 0.995000 0.86356 9.869000 0.99810 2.873000 0.98535 0.561000 0.74099 GAT PLCB4-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000077958.2 25.414297 0 -41 61 0 0 1 0 12 31.649886 54 0.181818 GTF2E2 2961 broad.mit.edu hg19 8 30511073 30511073 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:30511073G>A ENST00000355904.4 - 2 325 c.43C>T c.(43-45)Cga>Tga p.R15* NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 15 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) GAAAGAGCTCGTTTTTTGAAC 0.378 0 94.0 91.0 92.0 8 30511073 2203 4300 6503 SO:0001587 stop_gained BC030572 CCDS6078.1 8p12 2010-03-23 2002-08-29 ENSG00000197265 ENSG00000197265 """General transcription factors""" 4651 protein-coding gene gene with protein product 189964 """general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)""" 1956404 Standard NM_002095 Approved TFIIE-B, FE, TF2E2 uc003xig.3 P29084 OTTHUMG00000163934 ENST00000355904.4:c.43C>T 8.37:g.30511073G>A ENSP00000348168:p.Arg15* D3DSV2|Q9H2B9 ENST00000355904.4 37 CCDS6078.1 . . . . . . . . . . G 37 5.991135 0.97179 . . ENSG00000197265 ENST00000355904;ENST00000518599;ENST00000518445 . . . 5.7 3.85 0.44370 . 0.064443 0.64402 D 0.000008 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -10.9014 10.7869 0.46411 0.0:0.1424:0.7097:0.1479 . . . . X 15 . ENSP00000348168:R15X R - 1 2 GTF2E2 30630615 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 3.603000 0.54074 0.708000 0.31955 0.644000 0.83932 CGA GTF2E2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376459.2 48.593988 0 -4 60 0 0 1 0 NM_002095 16 48.800574 22 0.421053 CDC27 996 broad.mit.edu hg19 17 45258967 45258967 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:45258967G>A ENST00000066544.3 - 2 157 c.64C>T c.(64-66)Cga>Tga p.R22* CDC27_ENST00000527547.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.P10L NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 22 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 ACCGCATCTCGGTAAGCATAG 0.363 0 35.0 35.0 35.0 17 45258967 2203 4300 6503 SO:0001587 stop_gained U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 """Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing""" 1728 protein-coding gene gene with protein product """anaphase promoting complex subunit 3""" 116946 """cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)""" D0S1430E, D17S978E 8234252 Standard XM_005257892 Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.64C>T 17.37:g.45258967G>A ENSP00000434614:p.Arg22* G3V1C4|Q16349|Q96F35 ENST00000531206.1 37 CCDS45720.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 37|37 6.468514|6.468514 0.97590|0.97590 .|. .|. ENSG00000004897|ENSG00000004897 ENST00000446365|ENST00000066544;ENST00000531206;ENST00000533415;ENST00000527547;ENST00000526866 T|. 0.75704|. -0.96|. 4.93|4.93 3.95|3.95 0.45737|0.45737 .|. .|0.075603 .|0.52532 .|D .|0.000061 T|. 0.25382|. 0.0617|. .|. .|. .|. 0.35175|0.35175 D|D 0.771941|0.771941 B|. 0.31519|. 0.327|. B|. 0.19946|. 0.027|. T|. 0.27157|. -1.0082|. 8|. 0.87932|0.02654 D|T 0|1 -12.8139|-12.8139 10.1835|10.1835 0.42984|0.42984 0.0:0.0:0.6088:0.3912|0.0:0.0:0.6088:0.3912 .|. 10|. B4DL80|. .|. L|X 10|22 ENSP00000392802:P10L|. ENSP00000392802:P10L|ENSP00000066544:R22X P|R -|- 2|1 0|2 CDC27|CDC27 42613966|42613966 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.994000|0.994000 0.84299|0.84299 4.795000|4.795000 0.62489|0.62489 1.275000|1.275000 0.44379|0.44379 0.462000|0.462000 0.41574|0.41574 CCG|CGA CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389745.1 11.959733 0 -14 23 0 0 1 0 5 14.258374 21 0.192308 KIAA1958 158405 broad.mit.edu hg19 9 115421680 115421680 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:115421680C>T ENST00000337530.6 + 4 1778 c.1482C>T c.(1480-1482)gtC>gtT p.V494V KIAA1958_ENST00000536272.1_Silent_p.V522V NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 494 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 ATGCAGGTGTCGGCTTTTCCA 0.582 0 49.0 46.0 47.0 9 115421680 2203 4300 6503 SO:0001819 synonymous_variant AB075838 CCDS35108.1, CCDS69642.1 9q33.1 2009-09-22 ENSG00000165185 ENSG00000165185 23427 protein-coding gene gene with protein product Standard NM_001287038 Approved FLJ39294 uc004bgf.1 Q8N8K9 OTTHUMG00000020508 ENST00000337530.6:c.1482C>T 9.37:g.115421680C>T B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02 ENST00000337530.6 37 CCDS35108.1 KIAA1958-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000053690.1 28.638649 0 4 48 0 0 1 0 NM_133465 10 29.927158 24 0.294118 PLA2G7 7941 broad.mit.edu hg19 6 46678287 46678287 + Missense_Mutation SNP G G C TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:46678287G>C ENST00000274793.7 - 8 968 c.772C>G c.(772-774)Ctg>Gtg p.L258V PLA2G7_ENST00000538237.1_Missense_Mutation_p.L213V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L258V|PLA2G7_ENST00000541026.1_Missense_Mutation_p.L131V NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 258 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) CTTACCTTCAGTTGTTCCATA 0.313 0 94.0 93.0 93.0 6 46678287 2203 4300 6503 SO:0001583 missense U20157 CCDS4917.1 6p21.2-p12 2008-09-19 ENSG00000146070 ENSG00000146070 9040 protein-coding gene gene with protein product 601690 7700381, 8624782 Standard NM_005084 Approved PAFAH, LDL-PLA2 uc021zae.1 Q13093 OTTHUMG00000014789 ENST00000274793.7:c.772C>G 6.37:g.46678287G>C ENSP00000274793:p.Leu258Val A5HTT5|Q15692|Q5VTT1|Q8IVA2 ENST00000274793.7 37 CCDS4917.1 . . . . . . . . . . G 13.99 2.402737 0.42613 . . ENSG00000146070 ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026 T;T;T;T 0.60920 0.15;0.15;0.15;0.15 5.87 4.06 0.47325 . 0.142315 0.48286 D 0.000182 T 0.62380 0.2423 M 0.88105 2.93 0.28191 N 0.927767 D;P;D;D 0.64830 0.988;0.858;0.994;0.994 D;P;P;D 0.65140 0.932;0.678;0.899;0.925 T 0.59632 -0.7418 10 0.39692 T 0.17 . 6.009 0.19565 0.1347:0.0:0.5854:0.2799 . 131;213;258;258 B4DLM5;F5GYY6;A8K2W6;Q13093 .;.;.;PAFA_HUMAN V 258;258;213;131 ENSP00000274793:L258V;ENSP00000445666:L258V;ENSP00000441416:L213V;ENSP00000444164:L131V ENSP00000274793:L258V L - 1 2 PLA2G7 46786246 0.439000 0.25610 0.979000 0.43373 0.636000 0.38137 0.671000 0.25172 0.786000 0.33708 0.655000 0.94253 CTG PLA2G7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040802.1 3.169029 0 -7 55 0 0 1 0 4 9.310131 35 0.102564 THBS2 7058 broad.mit.edu hg19 6 169648976 169648976 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:169648976C>T ENST00000366787.3 - 4 394 c.145G>A c.(145-147)Gac>Aac p.D49N NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 49 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) ACGCCGGGGTCGGGCCCGCGG 0.577 0 97.0 79.0 85.0 6 169648976 2203 4300 6503 SO:0001583 missense CCDS34574.1 6q27 2008-07-28 ENSG00000186340 ENSG00000186340 11786 protein-coding gene gene with protein product 188061 18455130 Standard NM_003247 Approved TSP2 uc003qwt.3 P35442 OTTHUMG00000045408 ENST00000366787.3:c.145G>A 6.37:g.169648976C>T ENSP00000355751:p.Asp49Asn A6H8N1|A7E232|Q5RI52 ENST00000366787.3 37 CCDS34574.1 . . . . . . . . . . C 12.58 1.981105 0.34942 . . ENSG00000186340 ENST00000366787;ENST00000435791 T;T 0.02280 4.36;4.36 4.42 4.42 0.53409 Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1); 0.000000 0.42821 U 0.000644 T 0.01558 0.0050 M 0.66939 2.045 0.27434 N 0.95393 B 0.10296 0.003 B 0.06405 0.002 T 0.27331 -1.0077 10 0.87932 D 0 -43.6698 11.9595 0.53001 0.0:0.9152:0.0:0.0848 . 49 P35442 TSP2_HUMAN N 49 ENSP00000355751:D49N;ENSP00000398928:D49N ENSP00000355751:D49N D - 1 0 THBS2 169390901 0.549000 0.26481 0.332000 0.25469 0.472000 0.32918 1.063000 0.30567 2.180000 0.69256 0.462000 0.41574 GAC THBS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000105439.1 12.437873 0 10 43 0 0 1 0 NM_003247 6 14.546889 22 0.214286 CTD-2192J16.22 0 broad.mit.edu hg19 19 12758281 12758281 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:12758281G>A ENST00000597692.1 - 2 354 c.355C>T c.(355-357)Cgc>Tgc p.R119C MAN2B1_ENST00000221363.4_Silent_p.S931S|MAN2B1_ENST00000456935.2_Silent_p.S932S TAACGGGGGCGCTCAGGTTAC 0.592 0 113.0 109.0 110.0 19 12758281 2203 4300 6503 SO:0001583 missense ENST00000597692.1:c.355C>T 19.37:g.12758281G>A ENSP00000470240:p.Arg119Cys ENST00000597692.1 37 CTD-2192J16.22-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay protein_coding OTTHUMT00000462694.1 24.431556 0 5 127 0 0 1 0 13 32.645417 65 0.166667 TRPM2 7226 broad.mit.edu hg19 21 45784126 45784126 + Silent SNP C C T rs143653746 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr21:45784126C>T ENST00000397928.1 + 3 829 c.384C>T c.(382-384)ggC>ggT p.G128G TRPM2_ENST00000300482.5_Silent_p.G128G|TRPM2_ENST00000300481.9_Silent_p.G128G|TRPM2_ENST00000397932.2_Silent_p.G128G NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 128 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ATGCCTTTGGCGACATCGTCT 0.562 0 181.0 139.0 153.0 21 45784126 2203 4300 6503 SO:0001819 synonymous_variant AB001535 CCDS13710.1 21q22.3 2011-12-14 2002-01-18 ENSG00000142185 ENSG00000142185 """Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing""" 12339 protein-coding gene gene with protein product 603749 TRPC7 9806837, 11385575, 16382100 Standard NR_038257 Approved KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1 uc002zew.1 O94759 OTTHUMG00000040840 ENST00000397932.2:c.384C>T 21.37:g.45784126C>T D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93 ENST00000397932.2 37 TRPM2-007 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000339787.1 32.916276 0 -16 69 0 0 1 0 NM_003307 11 33.605903 21 0.343750 CSF3 1440 broad.mit.edu hg19 17 38173107 38173107 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:38173107C>T ENST00000331769.2 + 4 714 c.498C>T c.(496-498)ttC>ttT p.F166F CSF3_ENST00000225474.2_Silent_p.F173F|CSF3_ENST00000394149.3_Silent_p.F170F|CSF3_ENST00000577675.1_Silent_p.F130F|CSF3_ENST00000394148.3_Silent_p.F137F P09919 CSF3_HUMAN colony stimulating factor 3 (granulocyte) 173 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) TGCCGGCCTTCGCCTCTGCTT 0.647 0 52.0 50.0 50.0 17 38173107 2203 4300 6503 SO:0001819 synonymous_variant CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2 17q11.2-q12 2014-01-30 ENSG00000108342 ENSG00000108342 """Endogenous ligands""" 2438 protein-coding gene gene with protein product """granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim""" 138970 """chromosome 17 open reading frame 33""" GCSF, G-CSF, C17orf33 3499671, 3501046 Standard NM_000759 Approved MGC45931 uc002htp.3 P09919 OTTHUMG00000133247 ENST00000225474.2:c.519C>T 17.37:g.38173107C>T A8MXR7 ENST00000225474.2 37 CCDS11357.1 CSF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256988.2 4.542340 0 -7 48 0 0 1 0 NM_172220 5 11.520914 41 0.108696 CHST15 51363 broad.mit.edu hg19 10 125805354 125805354 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:125805354G>A ENST00000346248.5 - 2 1017 c.375C>T c.(373-375)agC>agT p.S125S CHST15_ENST00000421115.1_Silent_p.S125S|CHST15_ENST00000435907.1_Silent_p.S125S NM_015892.4 NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 125 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TTGGGTTTTCGCTGTCCATCA 0.438 0 147.0 160.0 156.0 10 125805354 2203 4300 6503 SO:0001819 synonymous_variant AB011170 CCDS7638.1 10q26 2009-07-09 ENSG00000182022 ENSG00000182022 """Sulfotransferases, membrane-bound""" 18137 protein-coding gene gene with protein product """B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase""" 608277 9628581, 9754571, 11572857 Standard NM_014863 Approved GALNAC4S-6ST, BRAG, KIAA0598 uc001lhm.4 Q7LFX5 OTTHUMG00000019208 ENST00000346248.5:c.375C>T 10.37:g.125805354G>A O60338|O60474|Q86VM4 ENST00000346248.5 37 CCDS7638.1 CHST15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050856.1 -6.931403 0 -19 176 0 0 1 0 NM_015892 6 12.767514 92 0.061224 TCF19 6941 broad.mit.edu hg19 6 31130268 31130268 + Missense_Mutation SNP G G A rs142309377 by1000genomes TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:31130268G>A ENST00000376257.3 + 4 1566 c.812G>A c.(811-813)cGt>cAt p.R271H TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.R271H NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 271 Pro-rich. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 CGACGTGGCCGTCCTCGGAAG 0.607 0 84.0 92.0 89.0 6 31130268 1287 2550 3837 SO:0001583 missense U25826 CCDS43446.1 6p21.3 2013-01-28 2009-02-05 ENSG00000137310 ENSG00000137310 """Zinc fingers, PHD-type""" 11629 protein-coding gene gene with protein product 600912 1868030, 8595903 Standard NM_001077511 Approved SC1 uc003nss.3 Q9Y242 OTTHUMG00000031274 ENST00000376257.3:c.812G>A 6.37:g.31130268G>A ENSP00000365433:p.Arg271His A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7 ENST00000376257.3 37 CCDS43446.1 5 0.0022893772893772895 0 0.0 0 0.0 5 0.008741258741258742 0 0.0 G 11.65 1.700994 0.30142 . . ENSG00000137310 ENST00000376257;ENST00000376255 T;T 0.34667 1.35;1.35 3.21 2.22 0.28083 Zinc finger, FYVE/PHD-type (1); 0.116892 0.64402 N 0.000017 T 0.12092 0.0294 L 0.31926 0.97 0.80722 D 1 B 0.16802 0.019 B 0.10450 0.005 T 0.06552 -1.0820 10 0.72032 D 0.01 -30.1324 7.3256 0.26553 0.156:0.0:0.844:0.0 . 271 Q9Y242 TCF19_HUMAN H 271 ENSP00000365433:R271H;ENSP00000365431:R271H ENSP00000365431:R271H R + 2 0 TCF19 31238247 0.721000 0.28007 0.894000 0.35097 0.580000 0.36256 1.730000 0.38125 0.564000 0.29238 0.549000 0.68633 CGT TCF19-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076595.2 5.744766 0 -12 70 0 0 1 0 NM_007109 5 12.222553 39 0.113636 AKAP13 11214 broad.mit.edu hg19 15 86124462 86124462 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:86124462G>A ENST00000394518.2 + 7 3258 c.3163G>A c.(3163-3165)Gat>Aat p.D1055N AKAP13_ENST00000361243.2_Missense_Mutation_p.D1055N NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1055 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TGATGGGTCCGATGCTCTTAA 0.542 0 76.0 72.0 73.0 15 86124462 2202 4299 6501 SO:0001583 missense 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.3163G>A 15.37:g.86124462G>A ENSP00000354718:p.Asp1055Asn Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6 ENST00000361243.2 37 CCDS32320.1 . . . . . . . . . . G 12.87 2.066043 0.36470 . . ENSG00000170776 ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540 T;T 0.12774 2.65;2.65 4.57 0.077 0.14406 . . . . . T 0.06826 0.0174 N 0.08118 0 0.09310 N 0.999996 B;B 0.15141 0.012;0.006 B;B 0.04013 0.0;0.001 T 0.34527 -0.9825 9 0.66056 D 0.02 . 7.8278 0.29326 0.0952:0.4783:0.4265:0.0 . 1055;1055 Q12802;Q12802-2 AKP13_HUMAN;. N 1055;1055;1054;1054 ENSP00000354718:D1055N;ENSP00000378026:D1055N ENSP00000354718:D1055N D + 1 0 AKAP13 83925466 0.004000 0.15560 0.019000 0.16419 0.097000 0.18754 1.251000 0.32862 0.146000 0.19002 0.655000 0.94253 GAT AKAP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000417319.1 47.254501 0 -18 63 0 0 1 0 NM_007200 17 49.182392 39 0.303571 OTUD4 54726 broad.mit.edu hg19 4 146058662 146058662 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:146058662G>A ENST00000454497.2 - 21 3207 c.3070C>T c.(3070-3072)Cga>Tga p.R1024* OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Nonsense_Mutation_p.R1089* NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 1088 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CTGACATTTCGATGGTACTGA 0.502 0 119.0 117.0 118.0 4 146058662 2202 4286 6488 SO:0001587 stop_gained CCDS3764.1, CCDS47139.1 4q31.21 2014-02-24 2014-02-24 ENSG00000164164 ENSG00000164164 """OTU domain containing""" 24949 protein-coding gene gene with protein product 611744 """OTU domain containing 4""" 1475186, 12727813, 19996094 Standard NM_001102653 Approved HSHIN1, KIAA1046, DUBA6 uc003ika.4 Q01804 OTTHUMG00000161480 ENST00000447906.2:c.3265C>T 4.37:g.146058662G>A ENSP00000395487:p.Arg1089* B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6 ENST00000447906.2 37 . . . . . . . . . . G 37 6.072272 0.97256 . . ENSG00000164164 ENST00000454497;ENST00000447906 . . . 6.17 6.17 0.99709 . 0.000000 0.64402 D 0.000010 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -11.4152 17.0623 0.86550 0.0:0.0:0.8725:0.1275 . . . . X 1024;1089 . ENSP00000395487:R1089X R - 1 2 OTUD4 146278112 1.000000 0.71417 0.946000 0.38457 0.338000 0.28826 4.963000 0.63694 2.941000 0.99782 0.655000 0.94253 CGA OTUD4-004 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000365117.2 45.306948 0 -33 96 0 0 1 0 NM_017493 21 55.761060 92 0.185841 TOX3 27324 broad.mit.edu hg19 16 52498045 52498045 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:52498045G>A ENST00000219746.9 - 3 493 c.209C>T c.(208-210)aCg>aTg p.T70M TOX3_ENST00000407228.3_Missense_Mutation_p.T65M NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 70 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 TGGAGGAGGCGTGATTGGTGG 0.488 0 135.0 150.0 145.0 16 52498045 2082 4207 6289 SO:0001583 missense U80736 CCDS54008.1, CCDS54009.1 16q12.1 2008-02-05 2007-03-20 2007-03-20 ENSG00000103460 """Trinucleotide (CAG) repeat containing""" 11972 protein-coding gene gene with protein product 611416 """trinucleotide repeat containing 9""" TNRC9 9225980 Standard NM_001080430 Approved CAGF9 uc002egw.2 O15405 ENST00000219746.9:c.209C>T 16.37:g.52498045G>A ENSP00000219746:p.Thr70Met B4DRD0|B5MCW4 ENST00000219746.9 37 CCDS54009.1 . . . . . . . . . . G 17.88 3.496926 0.64186 . . ENSG00000103460 ENST00000219746;ENST00000407228 T;T 0.44482 0.92;0.92 5.9 5.9 0.94986 . 0.051178 0.85682 D 0.000000 T 0.68439 0.3001 M 0.78049 2.395 0.58432 D 0.999999 D;D 0.89917 1.0;1.0 D;D 0.79108 0.992;0.987 T 0.70015 -0.4988 10 0.87932 D 0 . 20.2822 0.98520 0.0:0.0:1.0:0.0 . 65;70 B4DRD0;O15405 .;TOX3_HUMAN M 70;65 ENSP00000219746:T70M;ENSP00000385705:T65M ENSP00000219746:T70M T - 2 0 TOX3 51055546 1.000000 0.71417 0.989000 0.46669 0.728000 0.41692 7.863000 0.87023 2.806000 0.96561 0.655000 0.94253 ACG TOX3-003 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000422534.1 51.098002 0 -8 77 0 0 1 0 XM_049037 19 53.915398 48 0.283582 CCER1 196477 broad.mit.edu hg19 12 91348368 91348368 + Missense_Mutation SNP G G A rs146867450 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:91348368G>A ENST00000358859.2 - 1 585 c.152C>T c.(151-153)cCg>cTg p.P51L CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 ATATCGGTGCGGTCTATTGTA 0.652 0 35.0 35.0 35.0 12 91348368 2203 4300 6503 SO:0001583 missense BC024183 CCDS9036.1 12q21.33 2012-05-30 2012-05-30 2012-05-30 ENSG00000197651 ENSG00000197651 28373 protein-coding gene gene with protein product """chromosome 12 open reading frame 12""" C12orf12 17967063 Standard NM_152638 Approved MGC26598 uc001tbj.3 Q8TC90 OTTHUMG00000170070 ENST00000358859.2:c.152C>T 12.37:g.91348368G>A ENSP00000351727:p.Pro51Leu Q8TC47 ENST00000358859.2 37 CCDS9036.1 . . . . . . . . . . G 4.690 0.128353 0.08981 2.27E-4 0.0 ENSG00000197651 ENST00000358859 T 0.37411 1.2 4.87 3.98 0.46160 . 0.283059 0.19197 N 0.120278 T 0.17874 0.0429 N 0.08118 0 0.09310 N 1 B 0.29571 0.249 B 0.19148 0.024 T 0.11842 -1.0571 10 0.38643 T 0.18 -5.9456 11.1284 0.48333 0.0:0.8097:0.1903:0.0 . 51 Q8TC90 CL012_HUMAN L 51 ENSP00000351727:P51L ENSP00000351727:P51L P - 2 0 C12orf12 89872499 0.018000 0.18449 0.005000 0.12908 0.002000 0.02628 1.951000 0.40333 1.281000 0.44480 -0.539000 0.04255 CCG CCER1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407142.2 2.301166 0 2 27 0 0 1 0 NM_152638 3 7.352277 28 0.096774 CELSR1 9620 broad.mit.edu hg19 22 46859996 46859996 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:46859996G>A ENST00000262738.3 - 2 3790 c.3791C>T c.(3790-3792)gCg>gTg p.A1264V CELSR1_ENST00000395964.1_Missense_Mutation_p.A1264V NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1264 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGCAGCAGCGCCGAGAAGGT 0.632 0 75.0 76.0 76.0 22 46859996 2203 4300 6503 SO:0001583 missense AF231024 CCDS14076.1 22q13.31 2014-08-08 2013-02-18 ENSG00000075275 ENSG00000075275 """Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans""" 1850 protein-coding gene gene with protein product """flamingo homolog 2 (Drosophila)""" 604523 """cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog""" 9339365 Standard XM_006724383 Approved ME2, HFMI2, FMI2, CDHF9 uc003bhw.1 Q9NYQ6 OTTHUMG00000150423 ENST00000262738.3:c.3791C>T 22.37:g.46859996G>A ENSP00000262738:p.Ala1264Val O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526 ENST00000262738.3 37 CCDS14076.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 17.92|17.92 3.506505|3.506505 0.64410|0.64410 .|. .|. ENSG00000075275|ENSG00000075275 ENST00000262738;ENST00000395964|ENST00000454637 T;T|. 0.68765|. -0.35;-0.09|. 4.85|4.85 4.85|4.85 0.62838|0.62838 .|. 0.000000|. 0.64402|. U|. 0.000002|. T|T 0.57080|0.57080 0.2029|0.2029 L|L 0.31207|0.31207 0.915|0.915 0.46336|0.46336 D|D 0.998996|0.998996 P|. 0.50156|. 0.932|. P|. 0.45377|. 0.478|. T|T 0.53704|0.53704 -0.8401|-0.8401 10|5 0.12766|. T|. 0.61|. .|. 17.5878|17.5878 0.87987|0.87987 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 1264|. Q9NYQ6|. CELR1_HUMAN|. V|C 1264|639 ENSP00000262738:A1264V;ENSP00000379293:A1264V|. ENSP00000262738:A1264V|. A|R -|- 2|1 0|0 CELSR1|CELSR1 45238660|45238660 1.000000|1.000000 0.71417|0.71417 0.992000|0.992000 0.48379|0.48379 0.989000|0.989000 0.77384|0.77384 5.062000|5.062000 0.64326|0.64326 2.239000|2.239000 0.73571|0.73571 0.655000|0.655000 0.94253|0.94253 GCG|CGC CELSR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000318037.1 0.629630 0 10 89 0 0 1 0 NM_014246 5 10.432978 52 0.087719 CHRM1 1128 broad.mit.edu hg19 11 62678236 62678236 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:62678236C>T ENST00000306960.3 - 2 878 c.337G>A c.(337-339)Gtc>Atc p.V113I AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 113 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 AGATTCATGACGGAGGCATTG 0.612 0 63.0 58.0 59.0 11 62678236 2201 4298 6499 SO:0001583 missense Y00508 CCDS8040.1 11q12-q13 2012-08-08 ENSG00000168539 """Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic""" 1950 protein-coding gene gene with protein product """acetylcholine receptor, muscarinic 1""" 118510 Standard NM_000738 Approved uc001nwi.3 P11229 ENST00000306960.3:c.337G>A 11.37:g.62678236C>T ENSP00000306490:p.Val113Ile Q96RH1 ENST00000306960.3 37 CCDS8040.1 . . . . . . . . . . C 20.6 4.016115 0.75161 . . ENSG00000168539 ENST00000306960;ENST00000543973;ENST00000536524 T;T;T 0.19806 2.12;2.12;2.12 4.57 4.57 0.56435 GPCR, rhodopsin-like superfamily (1); 0.000000 0.52532 D 0.000068 T 0.21427 0.0516 N 0.05383 -0.06 0.47778 D 0.999516 D 0.55800 0.973 P 0.58721 0.844 T 0.11348 -1.0591 10 0.30078 T 0.28 -34.1641 14.8803 0.70528 0.0:1.0:0.0:0.0 . 113 P11229 ACM1_HUMAN I 113 ENSP00000306490:V113I;ENSP00000441188:V113I;ENSP00000444482:V113I ENSP00000306490:V113I V - 1 0 CHRM1 62434812 1.000000 0.71417 0.980000 0.43619 0.944000 0.59088 7.632000 0.83247 2.376000 0.81061 0.563000 0.77884 GTC CHRM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396178.1 5.213620 0 -13 26 0 0 1 0 NM_000738 3 7.110580 15 0.166667 SERPINA3 12 broad.mit.edu hg19 14 95080899 95080899 + Nonsense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:95080899C>T ENST00000467132.1 + 2 1269 c.121C>T c.(121-123)Cga>Tga p.R41* RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.R41*|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.R41* P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 41 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GAACCAAGACCGAGGGACACA 0.582 0 117.0 116.0 116.0 14 95080899 2203 4300 6503 SO:0001587 stop_gained K01500 CCDS32150.1 14q32.1 2014-06-03 2005-08-18 ENSG00000196136 ENSG00000196136 """Serine (or cysteine) peptidase inhibitors""" 16 protein-coding gene gene with protein product 107280 """alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3""" AACT 3260956, 24172014 Standard NM_001085 Approved ACT, alpha-1-antichymotrypsin uc001ydp.3 P01011 OTTHUMG00000029851 ENST00000467132.1:c.121C>T 14.37:g.95080899C>T ENSP00000450540:p.Arg41* B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9 ENST00000467132.1 37 CCDS32150.1 . . . . . . . . . . C 14.92 2.680838 0.47886 2.27E-4 0.0 ENSG00000196136 ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354 . . . 4.42 -3.03 0.05429 . 3.988340 0.01188 N 0.007251 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 1.2621 0.02004 0.3193:0.2834:0.2676:0.1297 . . . . X 66;41;41;41;41;41 . ENSP00000369712:R41X R + 1 2 SERPINA3 94150652 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.024000 0.12435 -0.120000 0.11809 -0.397000 0.06425 CGA SERPINA3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268080.3 55.842433 0 6 87 0 0 1 0 NM_001085 18 56.235551 27 0.400000 MAP7D2 256714 broad.mit.edu hg19 X 20081643 20081643 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:20081643G>A ENST00000379651.3 - 3 279 c.261C>T c.(259-261)taC>taT p.Y87Y MAP7D2_ENST00000452324.3_Silent_p.Y43Y|MAP7D2_ENST00000379643.5_Silent_p.Y87Y|MAP7D2_ENST00000443379.3_Silent_p.Y87Y NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 87 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 TTTGCTTTTCGTACTGCAGCC 0.527 0 141.0 113.0 123.0 X 20081643 2203 4300 6503 SO:0001819 synonymous_variant BC089400 CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1 Xp22.12 2008-02-05 ENSG00000184368 ENSG00000184368 25899 protein-coding gene gene with protein product 12477932 Standard NM_152780 Approved FLJ14503 uc010nfo.2 Q96T17 OTTHUMG00000021228 ENST00000379643.5:c.261C>T X.37:g.20081643G>A B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792 ENST00000379643.5 37 CCDS55386.1 1 6.027727546714888E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 10.18 1.278199 0.23307 0.0 2.97E-4 ENSG00000184368 ENST00000544957 . . . 5.87 -0.59 0.11679 . . . . . T 0.58148 0.2102 . . . 0.80722 D 1 . . . . . . T 0.53019 -0.8497 4 . . . -13.6087 11.2743 0.49157 0.5151:0.0:0.4849:0.0 . . . . M 36 . . T - 2 0 MAP7D2 19991564 0.638000 0.27225 0.996000 0.52242 0.989000 0.77384 -0.198000 0.09505 -0.262000 0.09392 0.594000 0.82650 ACG MAP7D2-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056003.2 143.569263 0 -16 129 0 0 1 0 NM_152780 45 143.650684 51 0.468750 ZNF423 23090 broad.mit.edu hg19 16 49672258 49672258 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:49672258C>T ENST00000561648.1 - 4 858 c.805G>A c.(805-807)Gag>Aag p.E269K ZNF423_ENST00000562871.1_Missense_Mutation_p.E209K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E209K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E152K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E152K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E209K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E269K NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 269 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) AAGGTGTCCTCGCAGTAGTCG 0.597 0 54.0 44.0 47.0 16 49672258 2198 4300 6498 SO:0001583 missense AB018303 CCDS32445.1, CCDS61930.1 16q12 2014-01-28 ENSG00000102935 """Zinc fingers, C2H2-type""" 16762 protein-coding gene gene with protein product """OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein""" 604557 9872452, 10660046 Standard NM_001271620 Approved KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19 uc031qwd.1 Q2M1K9 ENST00000561648.1:c.805G>A 16.37:g.49672258C>T ENSP00000455426:p.Glu269Lys O94860|Q76N04|Q9NZ13 ENST00000561648.1 37 CCDS32445.1 . . . . . . . . . . C 21.0 4.087678 0.76642 . . ENSG00000102935 ENST00000262383;ENST00000535559 T;T 0.76578 -1.03;-1.03 5.0 5.0 0.66597 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3); 0.000000 0.85682 D 0.000000 D 0.85191 0.5640 L 0.50333 1.59 0.54753 D 0.999984 D 0.89917 1.0 D 0.91635 0.999 D 0.84312 0.0511 9 . . . . 18.3069 0.90185 0.0:1.0:0.0:0.0 . 269 Q2M1K9 ZN423_HUMAN K 269;152 ENSP00000262383:E269K;ENSP00000442321:E152K . E - 1 0 ZNF423 48229759 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 7.818000 0.86416 2.331000 0.79229 0.561000 0.74099 GAG ZNF423-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000423258.1 16.142004 0 -24 24 0 0 1 0 NM_015069 6 16.856909 14 0.300000 TRIO 7204 broad.mit.edu hg19 5 14508349 14508349 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:14508349C>T ENST00000344204.4 + 57 9136 c.9112C>T c.(9112-9114)Cgt>Tgt p.R3038C TRIO_ENST00000537187.1_Missense_Mutation_p.R2862C|TRIO_ENST00000344135.5_Missense_Mutation_p.R537C NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 3038 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCCCGCCAAGCGTCCCTCGGC 0.602 0 50.0 55.0 53.0 5 14508349 2203 4300 6503 SO:0001583 missense AF091395 CCDS3883.1 5p14-p15.1 2013-01-11 2012-07-12 ENSG00000038382 ENSG00000038382 """Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing""" 12303 protein-coding gene gene with protein product 601893 """triple functional domain (PTPRF interacting)""" 8643598 Standard NM_007118 Approved ARHGEF23 uc003jff.3 O75962 OTTHUMG00000131057 ENST00000344204.4:c.9112C>T 5.37:g.14508349C>T ENSP00000339299:p.Arg3038Cys D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8 ENST00000344204.4 37 CCDS3883.1 . . . . . . . . . . C 18.49 3.634843 0.67130 . . ENSG00000038382 ENST00000344204;ENST00000537187;ENST00000344135 T;T;T 0.80738 -1.41;-1.41;-1.41 5.72 4.84 0.62591 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.94486 0.8225 H 0.99545 4.62 0.43782 D 0.99631 D 0.89917 1.0 D 0.97110 1.0 D 0.96936 0.9684 10 0.87932 D 0 . 15.8619 0.79032 0.1368:0.8632:0.0:0.0 . 3038 O75962 TRIO_HUMAN C 3038;2862;537 ENSP00000339299:R3038C;ENSP00000446348:R2862C;ENSP00000339291:R537C ENSP00000339291:R537C R + 1 0 TRIO 14561349 1.000000 0.71417 0.631000 0.29282 0.996000 0.88848 3.163000 0.50763 1.366000 0.46076 0.650000 0.86243 CGT TRIO-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253711.2 7.349508 0 -19 62 0 0 1 0 NM_007118 5 12.361605 33 0.131579 AES 166 hgsc.bcm.edu hg19 19 3061247 3061247 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 C C . . . . Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe GGGGTAGGTGCGAGGAGCCCT 0.667 0 125.0 123.0 123.0 19 3061247 2203 4300 6503 SO:0001819 synonymous_variant AK094591 CCDS12101.1, CCDS12102.1 19p13.3 2008-02-05 307 protein-coding gene gene with protein product 600188 8365415 Standard NM_001130 Approved GRG5, TLE5 uc002lwx.1 Q08117 ENST00000327141.4:c.36G>A 19.37:g.3061247C>T B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9 ENST00000327141.4 37 CCDS12102.1 AES-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452154.1 20 133 NM_198969 12 69 TRIM63 84676 broad.mit.edu hg19 1 26386770 26386770 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:26386770C>T ENST00000374272.3 - 4 722 c.584G>A c.(583-585)cGt>cAt p.R195H NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 195 Interaction with TTN. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GGTCACTCGACGGGAATCCTC 0.572 0 113.0 106.0 108.0 1 26386770 2203 4300 6503 SO:0001583 missense AF353673 CCDS273.1 1p34-p33 2014-09-17 2012-02-23 2004-11-17 ENSG00000158022 ENSG00000158022 """RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing""" 16007 protein-coding gene gene with protein product """muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein""" 606131 """ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63""" RNF28 11243782, 11283016 Standard NM_032588 Approved MURF-1, IRF, SMRZ uc001bli.2 Q969Q1 OTTHUMG00000007510 ENST00000374272.3:c.584G>A 1.37:g.26386770C>T ENSP00000363390:p.Arg195His B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4 ENST00000374272.3 37 CCDS273.1 . . . . . . . . . . C 22.0 4.228760 0.79576 . . ENSG00000158022 ENST00000374272 T 0.42900 0.96 5.21 5.21 0.72293 . 0.128263 0.85682 D 0.000000 T 0.29620 0.0739 N 0.08118 0 0.35647 D 0.811443 P 0.50156 0.932 B 0.42522 0.39 T 0.48375 -0.9041 10 0.72032 D 0.01 . 18.7199 0.91689 0.0:1.0:0.0:0.0 . 195 Q969Q1 TRI63_HUMAN H 195 ENSP00000363390:R195H ENSP00000363390:R195H R - 2 0 TRIM63 26259357 1.000000 0.71417 1.000000 0.80357 0.822000 0.46500 7.717000 0.84732 2.574000 0.86865 0.462000 0.41574 CGT TRIM63-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000019750.1 67.942848 0 15 79 0 0 1 0 NM_032588 22 68.152172 29 0.431373 FRMPD1 22844 broad.mit.edu hg19 9 37746714 37746714 + Missense_Mutation SNP C C T rs138292555 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:37746714C>T ENST00000539465.1 + 16 5278 c.4685C>T c.(4684-4686)aCg>aTg p.T1562M FRMPD1_ENST00000377765.3_Missense_Mutation_p.T1562M|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1562 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) ACGGCCCTCACGGCCGCCGTG 0.592 0 93.0 98.0 97.0 9 37746714 2203 4298 6501 SO:0001583 missense AB023184 CCDS6612.1 9p13.1 2008-02-05 ENSG00000070601 ENSG00000070601 29159 protein-coding gene gene with protein product 10231032 Standard NM_014907 Approved KIAA0967, FRMD2 uc004aag.1 Q5SYB0 OTTHUMG00000019927 ENST00000539465.1:c.4685C>T 9.37:g.37746714C>T ENSP00000444411:p.Thr1562Met B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3 ENST00000539465.1 37 CCDS6612.1 . . . . . . . . . . C 26.2 4.719469 0.89205 0.0 8.14E-4 ENSG00000070601 ENST00000377765;ENST00000539465 T;T 0.12039 2.72;2.72 5.71 5.71 0.89125 . 0.000000 0.85682 D 0.000000 T 0.35941 0.0949 L 0.59436 1.845 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.01894 -1.1252 10 0.87932 D 0 -5.1585 17.3577 0.87341 0.0:1.0:0.0:0.0 . 1562 Q5SYB0 FRPD1_HUMAN M 1562 ENSP00000366995:T1562M;ENSP00000444411:T1562M ENSP00000366995:T1562M T + 2 0 FRMPD1 37736714 0.995000 0.38212 0.965000 0.40720 0.905000 0.53344 3.297000 0.51810 2.704000 0.92352 0.655000 0.94253 ACG FRMPD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402969.1 -5.859878 0 -1 142 0 0 1 0 NM_014907 7 15.118404 100 0.065421 TMEM132A 54972 broad.mit.edu hg19 11 60702219 60702219 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:60702219G>A ENST00000005286.4 + 9 1975 c.1822G>A c.(1822-1824)Ggt>Agt p.G608S TMEM132A_ENST00000453848.2_Missense_Mutation_p.G607S NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 607 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCGGGAGCCCGGTGTCACCTC 0.657 0 19.0 22.0 21.0 11 60702219 2182 4264 6446 SO:0001583 missense AK000546 CCDS7997.1, CCDS44618.1 11q12.2 2006-03-02 2006-03-02 2006-03-02 ENSG00000006118 ENSG00000006118 31092 protein-coding gene gene with protein product """heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1""" HSPA5BP1 12514190, 10997877 Standard NM_017870 Approved GBP, FLJ20539 uc001nqi.3 Q24JP5 OTTHUMG00000167803 ENST00000005286.4:c.1822G>A 11.37:g.60702219G>A ENSP00000005286:p.Gly608Ser Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0 ENST00000005286.4 37 CCDS7997.1 . . . . . . . . . . G 18.71 3.683263 0.68157 . . ENSG00000006118 ENST00000444690;ENST00000453848;ENST00000005286 T;T 0.35973 1.28;1.28 4.01 4.01 0.46588 . 0.450845 0.21249 N 0.077675 T 0.61173 0.2326 M 0.74467 2.265 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.66885 -0.5810 10 0.87932 D 0 . 17.0352 0.86473 0.0:0.0:1.0:0.0 . 607;608 Q24JP5;Q24JP5-2 T132A_HUMAN;. S 358;607;608 ENSP00000405823:G607S;ENSP00000005286:G608S ENSP00000005286:G608S G + 1 0 TMEM132A 60458795 1.000000 0.71417 0.833000 0.33012 0.118000 0.20060 7.474000 0.81024 2.535000 0.85469 0.305000 0.20034 GGT TMEM132A-002 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396353.1 6.012762 0 -10 20 0 0 1 0 NM_017870 3 8.132980 16 0.157895 NOP10 55505 broad.mit.edu hg19 15 34634230 34634230 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:34634230C>T ENST00000328848.4 - 2 237 c.134G>A c.(133-135)cGa>cAa p.R45Q NOP10_ENST00000557912.1_Missense_Mutation_p.E26K NM_018648.3 NP_061118.1 Q9NPE3 NOP10_HUMAN NOP10 ribonucleoprotein 45 pseudouridine synthesis|rRNA processing Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding lung(1)|ovary(1) 2 GATGGTGATTCGGTGTCGAGA 0.527 0 175.0 133.0 147.0 15 34634230 2201 4298 6499 SO:0001583 missense AB043103 CCDS10037.1 15q14-q15 2014-09-17 2012-12-10 2008-10-13 ENSG00000182117 ENSG00000182117 14378 protein-coding gene gene with protein product """homolog of yeast Nop10p""" 606471 """nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)"", ""NOP10 ribonucleoprotein homolog (yeast)""" NOLA3 11074001, 9843512 Standard NM_018648 Approved NOP10P, MGC70651 uc001zie.1 Q9NPE3 OTTHUMG00000129440 ENST00000557912.1:c.76G>A 15.37:g.34634230C>T ENSP00000453475:p.Glu26Lys ENST00000557912.1 37 . . . . . . . . . . C 18.38 3.611071 0.66558 . . ENSG00000182117 ENST00000328848 D 0.97378 -4.36 5.66 4.73 0.59995 . 0.000000 0.85682 D 0.000000 D 0.96676 0.8915 . . . 0.23210 N 0.998114 D 0.55385 0.971 P 0.48795 0.59 D 0.92409 0.5936 9 0.87932 D 0 . 15.4066 0.74884 0.0:0.86:0.14:0.0 . 45 Q9NPE3 NOP10_HUMAN Q 45 ENSP00000332198:R45Q ENSP00000332198:R45Q R - 2 0 NOP10 32421522 1.000000 0.71417 0.996000 0.52242 0.986000 0.74619 6.606000 0.74159 1.351000 0.45789 0.655000 0.94253 CGA NOP10-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000418023.1 38.799488 0 -6 42 0 0 1 0 NM_018648 12 38.808141 13 0.480000 XPO7 23039 broad.mit.edu hg19 8 21839354 21839354 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:21839354G>A ENST00000434536.1 + 10 1199 c.1097G>A c.(1096-1098)cGa>cAa p.R366Q XPO7_ENST00000252512.9_Missense_Mutation_p.R357Q|XPO7_ENST00000433566.4_Missense_Mutation_p.R358Q Q9UIA9 XPO7_HUMAN exportin 7 357 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) GAGGTCATCCGATTGATAGCC 0.423 0 168.0 157.0 160.0 8 21839354 1871 4096 5967 SO:0001583 missense AF064729 CCDS47818.1 8p21 2011-04-13 2003-03-11 2003-03-14 ENSG00000130227 ENSG00000130227 """Exportins""" 14108 protein-coding gene gene with protein product 606140 """RAN binding protein 16""" RANBP16 11024021, 9872452 Standard NM_015024 Approved KIAA0745 uc003xaa.4 Q9UIA9 OTTHUMG00000163789 ENST00000252512.9:c.1070G>A 8.37:g.21839354G>A ENSP00000252512:p.Arg357Gln O94846|Q6PJK9|Q8NEK7 ENST00000252512.9 37 CCDS47818.1 . . . . . . . . . . G 13.51 2.258638 0.39896 . . ENSG00000130227 ENST00000434536;ENST00000252512;ENST00000433566 T;T;T 0.39787 1.06;1.06;1.06 5.69 5.69 0.88448 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.19327 0.0464 N 0.02357 -0.585 0.80722 D 1 B;B;B 0.19935 0.04;0.02;0.02 B;B;B 0.09377 0.004;0.003;0.003 T 0.23297 -1.0192 10 0.02654 T 1 -6.8499 19.3926 0.94590 0.0:0.0:1.0:0.0 . 358;366;357 E7ESC6;E9PEN8;Q9UIA9 .;.;XPO7_HUMAN Q 366;357;358 ENSP00000404853:R366Q;ENSP00000252512:R357Q;ENSP00000410249:R358Q ENSP00000252512:R357Q R + 2 0 XPO7 21895300 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.869000 0.99810 2.671000 0.90904 0.655000 0.94253 CGA XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375494.1 155.285897 0 3 139 0 0 1 0 NM_015024 48 155.288263 49 0.494845 MYO7A 4647 broad.mit.edu hg19 11 76912671 76912671 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:76912671G>A ENST00000409709.3 + 36 5303 c.5031G>A c.(5029-5031)ccG>ccA p.P1677P MYO7A_ENST00000409619.2_Silent_p.P1628P|MYO7A_ENST00000458637.2_Silent_p.P1639P NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1677 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCATGCCACCGCGGGAGATTG 0.587 0 52.0 56.0 54.0 11 76912671 2098 4209 6307 SO:0001819 synonymous_variant U39226 CCDS53683.1, CCDS53684.1, CCDS53685.1 11q13.5 2013-01-08 2005-09-12 ENSG00000137474 ENSG00000137474 """A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII""" 7606 protein-coding gene gene with protein product 276903 """myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))""" USH1B, DFNB2, DFNA11 8884266 Standard NM_000260 Approved NSRD2 uc001oyb.2 Q13402 OTTHUMG00000152822 ENST00000458637.2:c.4917G>A 11.37:g.76912671G>A B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822 ENST00000458637.2 37 CCDS53684.1 MYO7A-002 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328134.2 1.198693 0 -15 35 0 0 1 0 NM_000260 3 7.026409 31 0.088235 BUB1 699 broad.mit.edu hg19 2 111413371 111413371 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:111413371C>T ENST00000535254.1 - 15 1828 c.1761G>A c.(1759-1761)gcG>gcA p.A587A BUB1_ENST00000409311.1_Silent_p.A607A|BUB1_ENST00000302759.6_Silent_p.A607A NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 607 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATGGTGTAGACGCAAGTTGTG 0.458 0 235.0 214.0 222.0 2 111413371 2203 4300 6503 SO:0001819 synonymous_variant AF046078 CCDS33273.1, CCDS62984.1, CCDS62985.1 2q13 2013-01-17 2013-01-17 ENSG00000169679 ENSG00000169679 1148 protein-coding gene gene with protein product 602452 """budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)""" BUB1L Standard NM_004336 Approved hBUB1, BUB1A uc002tgc.3 O43683 OTTHUMG00000153638 ENST00000302759.6:c.1821G>A 2.37:g.111413371C>T E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4 ENST00000302759.6 37 CCDS33273.1 BUB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000331925.1 4.763951 0 27 145 0 0 1 0 NM_004336 10 23.066506 99 0.091743 CAMTA1 23261 broad.mit.edu hg19 1 7731000 7731000 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:7731000G>A ENST00000303635.7 + 10 2889 c.2682G>A c.(2680-2682)ccG>ccA p.P894P CAMTA1_ENST00000439411.2_Silent_p.P894P NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 894 IPT/TIG. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCACAGGCCCGTGGCAAGAAG 0.597 0 136.0 118.0 124.0 1 7731000 2203 4300 6503 SO:0001819 synonymous_variant AB020640 CCDS30576.1, CCDS55574.1, CCDS55575.1 1p36.31-p36.23 2008-07-18 ENSG00000171735 ENSG00000171735 18806 protein-coding gene gene with protein product 611501 11925432 Standard NM_001195563 Approved KIAA0833 uc001aoi.3 Q9Y6Y1 OTTHUMG00000001212 ENST00000303635.7:c.2682G>A 1.37:g.7731000G>A A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92 ENST00000303635.7 37 CCDS30576.1 CAMTA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000003588.3 121.351265 0 -37 94 0 0 1 0 NM_015215 38 121.399501 34 0.527778 SKOR1 390598 broad.mit.edu hg19 15 68118635 68118635 + Nonsense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:68118635C>T ENST00000380035.2 + 2 527 c.469C>T c.(469-471)Cga>Tga p.R157* SKOR1_ENST00000341418.5_Nonsense_Mutation_p.R343*|SKOR1_ENST00000554240.1_Nonsense_Mutation_p.R118*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.R148*|SKOR1_ENST00000554054.1_Nonsense_Mutation_p.R129* P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 157 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 GATCACTAAGCGAGAGGCCGA 0.657 0 64.0 61.0 62.0 15 68118635 2200 4298 6498 SO:0001587 stop_gained CCDS58374.1 15q23 2011-08-04 2010-06-23 2010-06-23 ENSG00000188779 ENSG00000188779 """SKI transcriptional corepressors""" 21326 protein-coding gene gene with protein product """transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1""" 611273 """Lbxcor1 homolog (mouse)""" LBXCOR1 15528197 Standard NM_001258024 Approved CORL1, FUSSEL15 uc031qsn.1 P84550 ENST00000341418.5:c.1027C>T 15.37:g.68118635C>T ENSP00000343200:p.Arg343* A6NIP4|A6NJY0|Q2VWA5 ENST00000341418.5 37 CCDS58374.1 . . . . . . . . . . C 36 5.885578 0.97068 . . ENSG00000188779 ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002 . . . 4.94 4.94 0.65067 . 0.067585 0.64402 D 0.000008 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -18.4141 16.753 0.85492 0.0:1.0:0.0:0.0 . . . . X 343;118;129;157;148 . ENSP00000343200:R343X R + 1 2 SKOR1 65905689 1.000000 0.71417 1.000000 0.80357 0.621000 0.37620 3.856000 0.55964 2.292000 0.77174 0.561000 0.74099 CGA SKOR1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000410829.1 -2.311038 0 3 64 0 0 1 0 NM_001031807 3 6.447592 42 0.066667 ELMOD2 255520 broad.mit.edu hg19 4 141461345 141461345 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:141461345G>A ENST00000323570.3 + 6 555 c.423G>A c.(421-423)acG>acA p.T141T NM_153702.3 NP_714913.1 Q8IZ81 ELMD2_HUMAN ELMO/CED-12 domain containing 2 141 ELMO. phagocytosis|regulation of defense response to virus|response to virus cytoskeleton GTPase activator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) TAATGCCCACGAAGAAGTTAA 0.368 0 92.0 89.0 90.0 4 141461345 2203 4300 6503 SO:0001819 synonymous_variant BX648349 CCDS3752.1 4q31.1 2006-10-24 2006-01-20 ENSG00000179387 ENSG00000179387 28111 protein-coding gene gene with protein product 610196 """ELMO domain containing 2""" 16773575 Standard NM_153702 Approved MGC10084 uc003iik.3 Q8IZ81 OTTHUMG00000133417 ENST00000323570.3:c.423G>A 4.37:g.141461345G>A B2R712|D3DNZ0 ENST00000323570.3 37 CCDS3752.1 ELMOD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257277.2 2.972564 0 3 54 0 0 1 0 NM_153702 4 9.364230 36 0.100000 OR1F1 4992 broad.mit.edu hg19 16 3254391 3254391 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:3254391G>A ENST00000304646.2 + 1 145 c.145G>A c.(145-147)Gta>Ata p.V49I AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 CATCCTGTCCGTAAGCATAGA 0.557 0 189.0 158.0 169.0 16 3254391 2197 4300 6497 SO:0001583 missense Y14442 CCDS10496.1 16p13.3 2012-08-09 ENSG00000168124 ENSG00000168124 """GPCR / Class A : Olfactory receptors""" 8194 protein-coding gene gene with protein product 603232 OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P 9288094, 9500546 Standard NM_012360 Approved Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145 uc010uwu.2 O43749 OTTHUMG00000133153 ENST00000304646.2:c.145G>A 16.37:g.3254391G>A ENSP00000305424:p.Val49Ile O15246|Q6IFL5 ENST00000304646.2 37 CCDS10496.1 . . . . . . . . . . G 0.008 -1.901211 0.00517 0.0 1.16E-4 ENSG00000168124 ENST00000304646 T 0.01422 4.91 4.97 2.58 0.30949 GPCR, rhodopsin-like superfamily (1); 0.225949 0.30911 N 0.008635 T 0.00468 0.0015 N 0.00471 -1.455 0.24237 N 0.995376 B 0.06786 0.001 B 0.06405 0.002 T 0.47560 -0.9108 10 0.02654 T 1 . 7.3561 0.26719 0.7883:0.0:0.2117:0.0 . 49 O43749 OR1F1_HUMAN I 49 ENSP00000305424:V49I ENSP00000305424:V49I V + 1 0 OR1F1 3194392 0.003000 0.15002 0.639000 0.29394 0.007000 0.05969 0.205000 0.17356 0.252000 0.21531 0.393000 0.25936 GTA OR1F1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206985.1 -5.374947 0 1 76 0 0 1 0 3 6.356911 53 0.053571 RADIL 55698 broad.mit.edu hg19 7 4917629 4917629 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:4917629C>T ENST00000399583.3 - 2 329 c.142G>A c.(142-144)Gcc>Acc p.A48T RADIL_ENST00000536091.1_Missense_Mutation_p.A48T NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 48 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TCATCGCTGGCGCCCAGGCTG 0.627 0 18.0 23.0 21.0 7 4917629 2018 4178 6196 SO:0001583 missense AB058752 CCDS43544.1 7p22.1 2010-08-27 ENSG00000157927 ENSG00000157927 22226 protein-coding gene gene with protein product 611491 16051602, 17704304 Standard NM_018059 Approved FLJ10324, KIAA1849, RASIP2 uc003snj.1 Q96JH8 OTTHUMG00000151753 ENST00000399583.3:c.142G>A 7.37:g.4917629C>T ENSP00000382492:p.Ala48Thr A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4 ENST00000399583.3 37 CCDS43544.1 . . . . . . . . . . C 10.16 1.273693 0.23221 4.96E-4 0.0 ENSG00000157927 ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174 T;T 0.23552 3.31;1.9 5.73 -0.827 0.10802 . 0.354452 0.29321 N 0.012497 T 0.16171 0.0389 L 0.51422 1.61 0.09310 N 1 B 0.16396 0.017 B 0.08055 0.003 T 0.12993 -1.0526 10 0.36615 T 0.2 -11.0028 1.6686 0.02807 0.2315:0.45:0.1151:0.2033 . 48 Q96JH8 RADIL_HUMAN T 48;22;48;48 ENSP00000382492:A48T;ENSP00000442533:A48T ENSP00000320946:A22T A - 1 0 RADIL 4884155 0.000000 0.05858 0.000000 0.03702 0.080000 0.17528 -0.214000 0.09292 -0.180000 0.10637 -0.291000 0.09656 GCC RADIL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323769.2 15.474621 0 4 13 0 0 1 0 NM_018059 5 15.474621 5 0.500000 KRT72 140807 broad.mit.edu hg19 12 52984649 52984649 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:52984649G>A ENST00000293745.2 - 6 1145 c.1060C>T c.(1060-1062)Cgc>Tgc p.R354C KRT72_ENST00000398066.3_Missense_Mutation_p.R166C|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000537672.2_Missense_Mutation_p.R354C NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 354 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) ATCTCTGAGCGGATCCTCTGG 0.488 0 98.0 93.0 95.0 12 52984649 2203 4300 6503 SO:0001583 missense AY033495 CCDS8833.1, CCDS53795.1 12q13.13 2013-06-25 ENSG00000170486 ENSG00000170486 """-"", ""Intermediate filaments type II, keratins (basic)""" 28932 protein-coding gene gene with protein product 608246 12648212, 11703281, 16831889 Standard NM_080747 Approved K6IRS2, KRT6IRS2, KRT6, K6irs uc001saq.2 Q14CN4 OTTHUMG00000169744 ENST00000537672.2:c.1060C>T 12.37:g.52984649G>A ENSP00000441160:p.Arg354Cys B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0 ENST00000537672.2 37 CCDS8833.1 . . . . . . . . . . G 14.89 2.670594 0.47781 . . ENSG00000170486 ENST00000537672;ENST00000293745;ENST00000398066 T;T;T 0.78003 -1.14;-1.14;-1.14 5.14 4.24 0.50183 Filament (1); 0.435804 0.19457 N 0.113790 D 0.83013 0.5162 H 0.95402 3.665 0.37568 D 0.919335 B 0.33345 0.409 B 0.33196 0.159 D 0.86466 0.1782 10 0.72032 D 0.01 . 10.0993 0.42495 0.0:0.1314:0.6027:0.266 . 354 Q14CN4 K2C72_HUMAN C 354;354;166 ENSP00000441160:R354C;ENSP00000293745:R354C;ENSP00000446151:R166C ENSP00000293745:R354C R - 1 0 KRT72 51270916 0.012000 0.17670 1.000000 0.80357 0.870000 0.49936 1.773000 0.38563 1.480000 0.48289 -0.176000 0.13171 CGC KRT72-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405693.1 4.810880 0 -12 69 0 0 1 0 NM_080747 6 14.142933 53 0.101695 DMBX1 127343 broad.mit.edu hg19 1 46976849 46976849 + Silent SNP G G A rs147071342 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:46976849G>A ENST00000371956.4 + 3 606 c.591G>A c.(589-591)ccG>ccA p.P197P DMBX1_ENST00000360032.3_Silent_p.P192P NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 197 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) AGGATCAGCCGGACCGTGAGG 0.677 0 21.0 26.0 24.0 1 46976849 2202 4295 6497 SO:0001819 synonymous_variant AB037699 CCDS536.1 1p34.1 2011-06-20 2004-03-29 2004-03-30 ENSG00000197587 ENSG00000197587 """Homeoboxes / PRD class""" 19026 protein-coding gene gene with protein product 607410 """orthodenticle homolog 3 (Drosophila)""" OTX3 Standard NM_147192 Approved PAXB uc001cpx.3 Q8NFW5 OTTHUMG00000007982 ENST00000360032.3:c.576G>A 1.37:g.46976849G>A ENST00000360032.3 37 CCDS536.1 DMBX1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000021895.1 11.796896 0 -6 22 0 0 1 0 4 12.091656 8 0.333333 CBX2 84733 broad.mit.edu hg19 17 77757864 77757864 + Missense_Mutation SNP G G A rs61738483 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:77757864G>A ENST00000310942.4 + 5 726 c.622G>A c.(622-624)Gtt>Att p.V208I NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 208 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CAGCGCCCCCGTTGCAGGCCT 0.692 0 16.0 22.0 20.0 17 77757864 2174 4276 6450 SO:0001583 missense BC004252, BG354579 CCDS11764.1, CCDS32757.1 17q25.3 2010-07-06 2010-06-24 ENSG00000173894 ENSG00000173894 1552 protein-coding gene gene with protein product """Pc class homolog (Drosophila)""" 602770 """chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6""" CDCA6 7782071, 2477932 Standard NM_005189 Approved MGC10561 uc002jxc.3 Q14781 ENST00000310942.4:c.622G>A 17.37:g.77757864G>A ENSP00000308750:p.Val208Ile Q0VDA5|Q9BTB1 ENST00000310942.4 37 CCDS32757.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 8.353 0.831312 0.16820 . . ENSG00000173894 ENST00000310942 . . . 5.47 5.47 0.80525 . 1.394450 0.04612 N 0.400508 T 0.28830 0.0715 N 0.12182 0.205 0.80722 D 1 D 0.54772 0.968 B 0.31869 0.137 T 0.25984 -1.0116 9 0.22706 T 0.39 0.8498 13.2719 0.60165 0.0771:0.0:0.9229:0.0 . 208 Q14781 CBX2_HUMAN I 208 . ENSP00000308750:V208I V + 1 0 CBX2 75372459 0.999000 0.42202 0.978000 0.43139 0.268000 0.26511 3.532000 0.53553 2.577000 0.86979 0.655000 0.94253 GTT CBX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437040.1 16.397945 0 2 35 0 0 1 0 NM_032647 7 17.828745 20 0.259259 RET 5979 broad.mit.edu hg19 10 43597982 43597982 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:43597982G>A ENST00000355710.3 + 3 762 c.530G>A c.(529-531)cGg>cAg p.R177Q RET_ENST00000340058.5_Missense_Mutation_p.R177Q NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 177 Cadherin. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) TTCCGCATTCGGGAGAACCGA 0.617 0 91.0 74.0 80.0 10 43597982 2203 4300 6503 SO:0001583 missense BC004257 CCDS7200.1, CCDS53525.1 10q11.2 2014-09-17 2007-02-16 ENSG00000165731 ENSG00000165731 """Cadherins / Cadherin-related""" 9967 protein-coding gene gene with protein product """cadherin-related family member 16""" 164761 """multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1""" HSCR1, MEN2A, MTC1, MEN2B 2687772, 1611909 Standard NM_020975 Approved PTC, CDHF12, RET51, CDHR16 uc001jal.3 P07949 OTTHUMG00000018024 ENST00000355710.3:c.530G>A 10.37:g.43597982G>A ENSP00000347942:p.Arg177Gln A8K6Z2|Q15250|Q9BTB0|Q9H4A2 ENST00000355710.3 37 CCDS7200.1 . . . . . . . . . . G 18.48 3.633549 0.67015 . . ENSG00000165731 ENST00000355710;ENST00000340058;ENST00000535749 T;T 0.52295 0.67;0.67 5.09 2.09 0.27110 Cadherin (3);Cadherin-like (1); 0.255981 0.37669 N 0.001990 T 0.46889 0.1416 L 0.47716 1.5 0.21473 N 0.999677 D;D 0.63880 0.993;0.991 P;P 0.59288 0.855;0.774 T 0.24261 -1.0165 10 0.27082 T 0.32 . 3.1191 0.06385 0.2841:0.0:0.5116:0.2043 . 177;177 P07949;P07949-2 RET_HUMAN;. Q 177 ENSP00000347942:R177Q;ENSP00000344798:R177Q ENSP00000344798:R177Q R + 2 0 RET 42917988 0.971000 0.33674 0.200000 0.23457 0.955000 0.61496 2.823000 0.48081 1.076000 0.40961 0.655000 0.94253 CGG RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 6.077642 0 4 41 0 0 1 0 NM_020975 4 10.473592 28 0.125000 SYT11 23208 broad.mit.edu hg19 1 155838012 155838012 + Silent SNP C C T rs73002934 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:155838012C>T ENST00000368324.4 + 2 544 c.291C>T c.(289-291)gaC>gaT p.D97D SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 97 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TGTTGGTGGACGCAGCAGAGG 0.517 0 114.0 107.0 109.0 1 155838012 2203 4300 6503 SO:0001819 synonymous_variant D38522 CCDS1122.1 1q22 2013-01-21 ENSG00000132718 ENSG00000132718 """Synaptotagmins""" 19239 protein-coding gene gene with protein product 608741 11543631 Standard NM_152280 Approved KIAA0080, MGC10881, MGC17226, DKFZp781D015 uc001fmg.3 Q9BT88 OTTHUMG00000014105 ENST00000368324.4:c.291C>T 1.37:g.155838012C>T Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2 ENST00000368324.4 37 CCDS1122.1 SYT11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039597.1 83.619337 0 -14 75 0 0 1 0 NM_152280 27 83.749749 33 0.450000 SLC16A2 6567 broad.mit.edu hg19 X 73751218 73751218 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:73751218G>A ENST00000276033.5 + 6 1838 c.1672G>A c.(1672-1674)Ggt>Agt p.G558S SLC16A2_ENST00000587091.1_Missense_Mutation_p.G484S P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 484 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 CTACTTTGCCGGTGTGCCCCC 0.502 0 117.0 94.0 101.0 X 73751218 2203 4300 6503 SO:0001583 missense CCDS14426.1, CCDS14426.2 Xq13.2 2013-05-22 2012-03-20 ENSG00000147100 ENSG00000147100 """Solute carriers""" 10923 protein-coding gene gene with protein product 300095 """solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)""" DXS128, AHDS, MRX22 7981683, 12871948, 15889350 Standard NM_006517 Approved XPCT, MCT8, MCT7 uc031tjy.1 P36021 OTTHUMG00000021857 ENST00000587091.1:c.1450G>A X.37:g.73751218G>A ENSP00000465734:p.Gly484Ser Q7Z797 ENST00000587091.1 37 CCDS14426.2 . . . . . . . . . . G 27.4 4.826924 0.90955 . . ENSG00000147100 ENST00000276033 T 0.54279 0.58 5.3 5.3 0.74995 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.000000 0.85682 D 0.000000 T 0.74512 0.3726 M 0.80183 2.485 0.80722 D 1 D 0.76494 0.999 D 0.70716 0.97 T 0.79017 -0.1975 10 0.87932 D 0 . 18.0979 0.89497 0.0:0.0:1.0:0.0 . 484 P36021 MOT8_HUMAN S 558 ENSP00000276033:G558S ENSP00000276033:G558S G + 1 0 SLC16A2 73667943 1.000000 0.71417 0.995000 0.50966 0.985000 0.73830 9.476000 0.97823 2.210000 0.71456 0.529000 0.55759 GGT SLC16A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057266.3 88.026401 0 -16 60 0 0 1 0 27 88.030522 26 0.509434 TCIRG1 10312 broad.mit.edu hg19 11 67812527 67812527 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:67812527G>A ENST00000265686.3 + 10 1231 c.1123G>A c.(1123-1125)Gtg>Atg p.V375M TCIRG1_ENST00000532635.1_Missense_Mutation_p.V159M NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 375 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 CCAGGGCATCGTGGATGCCTA 0.682 0 90.0 78.0 82.0 11 67812527 2200 4294 6494 SO:0001583 missense AF025374 CCDS8177.1, CCDS53670.1 11q13.2 2014-09-17 2006-01-20 ENSG00000110719 ENSG00000110719 """ATPases / V-type""" 11647 protein-coding gene gene with protein product """T-cell immune response cDNA 7""" 604592 """T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3""" 8579597, 9806637 Standard NM_006019 Approved TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3 uc001one.3 Q13488 OTTHUMG00000167358 ENST00000265686.3:c.1123G>A 11.37:g.67812527G>A ENSP00000265686:p.Val375Met O75877|Q8WVC5 ENST00000265686.3 37 CCDS8177.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 28.5 4.922226 0.92319 . . ENSG00000110719 ENST00000265686;ENST00000532635 D;D 0.88509 -2.39;-2.39 4.07 4.07 0.47477 . 0.000000 0.85682 D 0.000000 D 0.95149 0.8428 M 0.89601 3.045 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.96149 0.9106 10 0.87932 D 0 -36.4798 15.0171 0.71594 0.0:0.0:1.0:0.0 . 375 Q13488 VPP3_HUMAN M 375;159 ENSP00000265686:V375M;ENSP00000434407:V159M ENSP00000265686:V375M V + 1 0 TCIRG1 67569103 1.000000 0.71417 1.000000 0.80357 0.830000 0.47004 9.420000 0.97426 2.119000 0.64992 0.462000 0.41574 GTG TCIRG1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394305.1 16.272156 0 -3 64 0 0 1 0 NM_006019 8 20.888515 38 0.173913 MAP2 4133 broad.mit.edu hg19 2 210559486 210559486 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:210559486C>T ENST00000360351.4 + 7 3098 c.2592C>T c.(2590-2592)ctC>ctT p.L864L MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.L860L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 864 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) ACAGTCAGCTCGAAGACCTGG 0.473 0 83.0 74.0 77.0 2 210559486 2203 4300 6503 SO:0001819 synonymous_variant CCDS2384.1, CCDS2385.1, CCDS33369.1 2q34-q35 2008-05-27 ENSG00000078018 ENSG00000078018 """A-kinase anchor proteins""" 6839 protein-coding gene gene with protein product 157130 3103857, 7479905 Standard XM_005246554 Approved MAP2A, MAP2B, MAP2C uc002vde.1 P11137 OTTHUMG00000132962 ENST00000360351.4:c.2592C>T 2.37:g.210559486C>T Q17S04|Q8IUX2|Q99975|Q99976 ENST00000360351.4 37 CCDS2384.1 MAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256521.2 -1.141521 0 14 53 0 0 1 0 NM_001039538 4 8.131172 47 0.078431 SYPL2 284612 broad.mit.edu hg19 1 110022032 110022032 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:110022032C>T ENST00000369872.3 + 6 897 c.681C>T c.(679-681)gcC>gcT p.A227A SYPL2_ENST00000401021.3_Silent_p.A163A NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 227 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) TCCTGTGGGCCGGGAACTGTT 0.582 1 141.0 145.0 144.0 1 110022032 1911 4147 6058 SO:0001819 synonymous_variant AK131459 CCDS41365.1 1p13.3 2008-02-05 ENSG00000143028 ENSG00000143028 27638 protein-coding gene gene with protein product """mitsugumin-29""" 12975309 Standard NM_001040709 Approved Mg29 uc001dxp.3 Q5VXT5 OTTHUMG00000010969 ENST00000369872.3:c.681C>T 1.37:g.110022032C>T A8K0E8|A8KAL7|I0IT67|Q6ZMX1 ENST00000369872.3 37 CCDS41365.1 SYPL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000030191.1 -11.474393 0 -9 117 0 0 1 0 NM_001006603 4 8.227092 85 0.044944 TLE3 7090 broad.mit.edu hg19 15 70347577 70347577 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:70347577G>A ENST00000558939.1 - 15 2775 c.1398C>T c.(1396-1398)gaC>gaT p.D466D TLE3_ENST00000558201.1_Silent_p.D472D|TLE3_ENST00000559929.1_Silent_p.D476D|TLE3_ENST00000559048.1_Silent_p.D466D|TLE3_ENST00000539550.1_Silent_p.D393D|TLE3_ENST00000451782.2_Silent_p.D463D|TLE3_ENST00000559191.1_Silent_p.D47D|TLE3_ENST00000560589.1_Silent_p.D410D|TLE3_ENST00000557997.1_Silent_p.D458D|TLE3_ENST00000317509.8_Silent_p.D454D|TLE3_ENST00000560939.1_Silent_p.D468D|TLE3_ENST00000442299.2_Silent_p.D458D|TLE3_ENST00000440567.3_Silent_p.D456D|TLE3_ENST00000558379.1_Silent_p.D461D|TLE3_ENST00000557907.1_Silent_p.D458D NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 466 organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTGCCAGGGCGTCGTGGGGGA 0.647 1 54.0 62.0 59.0 15 70347577 2199 4298 6497 SO:0001819 synonymous_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 """WD repeat domain containing""" 11839 protein-coding gene gene with protein product 600190 """transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)""" 8365415 Standard XM_005254623 Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.1398C>T 15.37:g.70347577G>A B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 ENST00000558939.1 37 CCDS45293.1 TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000416913.1 68.097949 0 -7 78 0 0 1 0 NM_005078 23 68.139413 26 0.469388 UBE2J2 118424 broad.mit.edu hg19 1 1190771 1190771 + Missense_Mutation SNP C C T rs146586696 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:1190771C>T ENST00000347370.2 - 7 909 c.436G>A c.(436-438)Gtc>Atc p.V146I UBE2J2_ENST00000339385.6_Missense_Mutation_p.V163I|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V146I|UBE2J2_ENST00000349431.6_Missense_Mutation_p.V198I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V146I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V198I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V214I NM_194458.1 NP_919440.1 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 198 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) CCGTTCTGGACGAGGTGCGTC 0.607 0 106.0 116.0 112.0 1 1190771 2203 4300 6503 SO:0001583 missense AF296658 CCDS14.1, CCDS15.1, CCDS16.1 1p36.33 2011-05-19 2011-05-19 ENSG00000160087 ENSG00000160087 """Ubiquitin-conjugating enzymes E2""" 19268 protein-coding gene gene with protein product """ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)""" 11278356 Standard NM_058167 Approved Ubc6p, NCUBE2 uc001ado.3 Q8N2K1 OTTHUMG00000001911 ENST00000400930.4:c.640G>A 1.37:g.1190771C>T ENSP00000383719:p.Val214Ile A8MYC7|Q504T9|Q96N26|Q96T84 ENST00000400930.4 37 CCDS15.1 . . . . . . . . . . C 11.17 1.560431 0.27827 2.27E-4 0.0 ENSG00000160087 ENST00000347370;ENST00000349431;ENST00000339385;ENST00000348298;ENST00000400929;ENST00000360466;ENST00000400930 T;T;T;T;T;T;T 0.71934 0.98;-0.02;0.98;0.98;0.98;-0.02;-0.61 5.96 5.05 0.67936 . 0.141042 0.64402 D 0.000005 T 0.45518 0.1346 N 0.08118 0 0.26837 N 0.968469 B;B;B;P 0.40282 0.059;0.009;0.036;0.711 B;B;B;B 0.26094 0.009;0.002;0.003;0.066 T 0.40136 -0.9579 10 0.35671 T 0.21 -4.811 14.2428 0.65969 0.0:0.9288:0.0:0.0712 . 146;214;198;231 A6NGS0;A8MYC7;Q8N2K1;B1AME9 .;.;UB2J2_HUMAN;. I 146;198;163;146;146;198;214 ENSP00000344857:V146I;ENSP00000305826:V198I;ENSP00000340197:V163I;ENSP00000342541:V146I;ENSP00000383718:V146I;ENSP00000353653:V198I;ENSP00000383719:V214I ENSP00000340197:V163I V - 1 0 UBE2J2 1180634 1.000000 0.71417 0.795000 0.32087 0.002000 0.02628 5.720000 0.68470 1.539000 0.49286 -0.136000 0.14681 GTC UBE2J2-015 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365644.1 22.352952 0 -30 89 0 0 1 0 NM_058167 12 30.161603 61 0.164384 MRVI1 10335 broad.mit.edu hg19 11 10648057 10648057 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:10648057C>T ENST00000547195.1 - 8 1051 c.551G>A c.(550-552)cGt>cAt p.R184H MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.R266H|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R275H|MRVI1_ENST00000527509.2_Missense_Mutation_p.R184H|MRVI1_ENST00000552103.1_Missense_Mutation_p.R184H|MRVI1_ENST00000531107.1_Missense_Mutation_p.R267H|MRVI1_ENST00000436272.1_Missense_Mutation_p.R248H NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 248 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TGGAGGAGGACGAGGAGCCAG 0.522 0 67.0 73.0 71.0 11 10648057 1963 4154 6117 SO:0001583 missense AF081249 CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1 11p15.4 2014-09-11 ENSG00000072952 ENSG00000072952 7237 protein-coding gene gene with protein product """inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate""" 604673 10321731 Standard NM_001098579 Approved JAW1L, IRAG uc010rcb.1 Q9Y6F6 OTTHUMG00000165773 ENST00000423302.2:c.824G>A 11.37:g.10648057C>T ENSP00000412130:p.Arg275His B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1 ENST00000423302.2 37 CCDS55746.1 . . . . . . . . . . C 11.93 1.786825 0.31593 . . ENSG00000072952 ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000531107;ENST00000527509 T;T;T;T;T;T;T 0.19105 2.73;2.82;2.17;2.17;2.55;2.73;2.17 5.56 4.66 0.58398 . 0.126644 0.53938 N 0.000041 T 0.22513 0.0543 M 0.65498 2.005 0.80722 D 1 B;B;B 0.22003 0.009;0.037;0.063 B;B;B 0.17433 0.008;0.008;0.018 T 0.03706 -1.1011 10 0.21014 T 0.42 -5.4137 11.7525 0.51857 0.0:0.8584:0.0:0.1416 . 248;267;266 Q9Y6F6;E9PQY6;Q9Y6F6-4 MRVI1_HUMAN;.;. H 266;249;248;184;184;275;267;184 ENSP00000414598:R266H;ENSP00000412229:R248H;ENSP00000448278:R184H;ENSP00000446764:R184H;ENSP00000412130:R275H;ENSP00000432436:R267H;ENSP00000432067:R184H ENSP00000307885:R249H R - 2 0 MRVI1 10604633 0.976000 0.34144 0.851000 0.33527 0.281000 0.26958 2.018000 0.40991 1.375000 0.46248 -0.222000 0.12452 CGT MRVI1-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000386137.2 25.501693 0 0 19 0 0 1 0 NM_001098579 8 25.563984 6 0.571429 CHST12 55501 broad.mit.edu hg19 7 2472887 2472887 + Missense_Mutation SNP G G A rs138563894 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:2472887G>A ENST00000258711.6 + 2 748 c.613G>A c.(613-615)Gag>Aag p.E205K NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 205 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CATCCCGCGCGAGCACGTGCA 0.647 0 46.0 38.0 40.0 7 2472887 2203 4296 6499 SO:0001583 missense AF239822 CCDS5333.1 7p22 2007-03-14 ENSG00000136213 ENSG00000136213 """Sulfotransferases, membrane-bound""" 17423 protein-coding gene gene with protein product 610129 10781601 Standard NM_018641 Approved C4S-2, C4ST2 uc021zyu.1 Q9NRB3 OTTHUMG00000023849 ENST00000258711.6:c.613G>A 7.37:g.2472887G>A ENSP00000258711:p.Glu205Lys A4D1Z9|Q502W3|Q9NXY7 ENST00000258711.6 37 CCDS5333.1 . . . . . . . . . . G 14.30 2.492927 0.44352 0.0 1.16E-4 ENSG00000136213 ENST00000258711;ENST00000432336 T;T 0.73152 1.87;-0.72 5.23 5.23 0.72850 . 0.260251 0.38436 N 0.001697 T 0.62208 0.2409 L 0.39245 1.2 0.53005 D 0.999964 D 0.55605 0.972 B 0.40410 0.328 T 0.61103 -0.7130 10 0.17832 T 0.49 3.0E-4 18.7861 0.91955 0.0:0.0:1.0:0.0 . 205 Q9NRB3 CHSTC_HUMAN K 205 ENSP00000258711:E205K;ENSP00000411207:E205K ENSP00000258711:E205K E + 1 0 CHST12 2439413 1.000000 0.71417 0.560000 0.28344 0.576000 0.36127 6.371000 0.73119 2.451000 0.82905 0.561000 0.74099 GAG CHST12-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060170.3 41.677496 0 -4 29 0 0 1 0 NM_018641 13 41.762685 10 0.565217 CNTROB 116840 broad.mit.edu hg19 17 7852791 7852791 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:7852791C>T ENST00000380262.3 + 19 3666 c.2741C>T c.(2740-2742)cCg>cTg p.P914L CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.P893L|CNTROB_ENST00000563694.1_Missense_Mutation_p.P892L NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 892 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) CACCCTGCCCCGAGTAGCATG 0.547 0 41.0 48.0 46.0 17 7852791 2202 4300 6502 SO:0001583 missense AF331638 CCDS32557.1, CCDS11126.1 17p13.1 2006-03-15 ENSG00000170037 29616 protein-coding gene gene with protein product """centrobin""" 611425 11984006, 16275750 Standard NM_001037144 Approved LIP8, PP1221 uc002gjp.3 Q8N137 ENST00000563694.1:c.2675C>T 17.37:g.7852791C>T ENSP00000456335:p.Pro892Leu A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060 ENST00000563694.1 37 CCDS11126.1 . . . . . . . . . . C 11.40 1.627324 0.28978 . . ENSG00000170037 ENST00000380262 T 0.55760 0.5 5.91 4.94 0.65067 . 0.119584 0.38548 N 0.001659 T 0.41003 0.1140 L 0.29908 0.895 0.39839 D 0.97308 B;B;B 0.17667 0.006;0.023;0.023 B;B;B 0.12156 0.007;0.007;0.007 T 0.38373 -0.9664 10 0.87932 D 0 -7.9452 10.9623 0.47393 0.0:0.9143:0.0:0.0857 . 893;892;914 Q8N137-3;Q8N137;Q8N137-2 .;CNTRB_HUMAN;. L 914 ENSP00000369614:P914L ENSP00000369614:P914L P + 2 0 CNTROB 7793516 0.034000 0.19679 0.059000 0.19551 0.037000 0.13140 2.110000 0.41873 1.501000 0.48654 0.655000 0.94253 CCG CNTROB-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000421372.1 -3.247132 0 -12 70 0 0 1 0 NM_053051 3 6.537677 46 0.061224 RNF43 54894 broad.mit.edu hg19 17 56435311 56435311 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:56435311C>T ENST00000584437.1 - 8 3781 c.1826G>A c.(1825-1827)cGg>cAg p.R609Q RNF43_ENST00000577716.1_Missense_Mutation_p.R609Q|RNF43_ENST00000407977.2_Missense_Mutation_p.R609Q|RNF43_ENST00000500597.2_Missense_Mutation_p.R568Q|RNF43_ENST00000583753.1_Missense_Mutation_p.R568Q|RNF43_ENST00000581868.1_Missense_Mutation_p.R482Q|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.R482Q Q68DV7 RNF43_HUMAN ring finger protein 43 609 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTTAGAGAGCCGCCCCGAAGG 0.637 0 53.0 64.0 60.0 17 56435311 2198 4296 6494 SO:0001583 missense CCDS11607.1 17q23.2 2013-01-09 """RING-type (C3HC4) zinc fingers""" 18505 protein-coding gene gene with protein product 612482 Standard NM_017763 Approved FLJ20315, DKFZp781H0392, URCC uc002iwh.4 Q68DV7 ENST00000584437.1:c.1826G>A 17.37:g.56435311C>T ENSP00000463069:p.Arg609Gln A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0 ENST00000584437.1 37 CCDS11607.1 . . . . . . . . . . C 0.006 -2.023999 0.00414 . . ENSG00000108375 ENST00000407977;ENST00000500597 T;T 0.17528 2.27;2.27 5.08 0.0187 0.14117 . 1.727610 0.02729 N 0.114877 T 0.06690 0.0171 N 0.02539 -0.55 0.09310 N 1 B;B;B 0.06786 0.0;0.001;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.28776 -1.0033 10 0.13853 T 0.58 -13.9153 5.1916 0.15212 0.0:0.1852:0.1545:0.6603 . 568;609;609 Q68DV7-2;Q68DV7-4;Q68DV7 .;.;RNF43_HUMAN Q 609;568 ENSP00000385328:R609Q;ENSP00000441969:R568Q ENSP00000385328:R609Q R - 2 0 RNF43 53790310 0.412000 0.25392 0.005000 0.12908 0.136000 0.21042 0.976000 0.29462 0.001000 0.14605 -1.026000 0.02426 CGG RNF43-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444713.1 57.617699 0 -44 79 0 0 1 0 NM_017763 19 57.921122 27 0.413043 CENPF 1063 broad.mit.edu hg19 1 214816120 214816120 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:214816120G>A ENST00000366955.3 + 12 4607 c.4439G>A c.(4438-4440)tGt>tAt p.C1480Y NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1576 2 X 96 AA approximate tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TCATCCTCTTGTGTGCCTGAC 0.463 0 68.0 66.0 67.0 1 214816120 2203 4300 6503 SO:0001583 missense U30872 CCDS31023.1 1q41 2013-11-05 2013-01-17 ENSG00000117724 ENSG00000117724 1857 protein-coding gene gene with protein product """mitosin""" 600236 """centromere protein F, 350/400kDa (mitosin)""" 7904902, 7851898 Standard NM_016343 Approved hcp-1 uc001hkm.3 P49454 OTTHUMG00000036955 ENST00000366955.3:c.4439G>A 1.37:g.214816120G>A ENSP00000355922:p.Cys1480Tyr Q13171|Q13246|Q5VVM7 ENST00000366955.3 37 CCDS31023.1 . . . . . . . . . . G 4.592 0.109987 0.08780 . . ENSG00000117724 ENST00000366955 T 0.36340 1.26 4.53 3.53 0.40419 . 0.236921 0.22155 N 0.063863 T 0.27866 0.0686 L 0.27053 0.805 0.09310 N 1 D 0.56521 0.976 P 0.47528 0.549 T 0.06734 -1.0810 10 0.38643 T 0.18 . 7.9878 0.30222 0.0898:0.2759:0.6343:0.0 . 1480 P49454 CENPF_HUMAN Y 1480 ENSP00000355922:C1480Y ENSP00000355922:C1480Y C + 2 0 CENPF 212882743 0.466000 0.25823 0.006000 0.13384 0.110000 0.19582 2.389000 0.44407 2.223000 0.72356 0.655000 0.94253 TGT CENPF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089749.1 49.263712 0 18 64 0 0 1 0 NM_016343 17 49.263712 17 0.500000 C1orf116 79098 broad.mit.edu hg19 1 207200928 207200928 + Missense_Mutation SNP G G T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:207200928G>T ENST00000359470.5 - 2 265 c.16C>A c.(16-18)Ctg>Atg p.L6M C1orf116_ENST00000461135.2_Intron NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 6 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) GCTGGCCACAGCTCCCTCTCG 0.612 0 65.0 60.0 62.0 1 207200928 2203 4300 6503 SO:0001583 missense CCDS1475.1, CCDS44306.1 1q32.1 2012-06-26 ENSG00000182795 ENSG00000182795 28667 protein-coding gene gene with protein product """specifically androgen-regulated gene""" 611680 15525603, 9389513 Standard NM_023938 Approved SARG, FLJ36507, MGC2742, MGC4309 uc001hfd.2 Q9BW04 OTTHUMG00000036580 ENST00000359470.5:c.16C>A 1.37:g.207200928G>T ENSP00000352447:p.Leu6Met C9JV41|Q658X3 ENST00000359470.5 37 CCDS1475.1 . . . . . . . . . . G 20.6 4.025097 0.75390 . . ENSG00000182795 ENST00000359470 T 0.11604 2.76 5.48 4.56 0.56223 . 0.272697 0.35151 N 0.003414 T 0.29684 0.0741 M 0.63843 1.955 0.80722 D 1 D 0.89917 1.0 D 0.78314 0.991 T 0.02167 -1.1202 10 0.87932 D 0 -5.7755 13.6392 0.62239 0.0755:0.0:0.9245:0.0 . 6 Q9BW04 SARG_HUMAN M 6 ENSP00000352447:L6M ENSP00000352447:L6M L - 1 2 C1orf116 205267551 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 1.797000 0.38804 1.272000 0.44329 0.655000 0.94253 CTG C1orf116-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088973.1 -2.111334 1 -5 46 0 1 1 1 NM_024115 3 6.378109 41 0.068182 CDH3 1001 broad.mit.edu hg19 16 68732183 68732183 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:68732183G>A ENST00000264012.4 + 16 2914 c.2370G>A c.(2368-2370)gcG>gcA p.A790A CDH3_ENST00000581171.1_Silent_p.A735A|CDH3_ENST00000429102.2_3'UTR NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 790 Ser-rich. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CCGACGCCGCGTCCCTGAGCT 0.612 2 102.0 101.0 102.0 16 68732183 2198 4300 6498 SO:0001819 synonymous_variant X63629 CCDS10868.1 16q22.1 2013-01-08 2001-12-04 ENSG00000062038 ENSG00000062038 """Cadherins / Major cadherins""" 1762 protein-coding gene gene with protein product 114021 """cadherin 3, P-cadherin (placental)""" 1427864 Standard NM_001793 Approved CDHP, PCAD uc002ewf.2 P22223 OTTHUMG00000137560 ENST00000264012.4:c.2370G>A 16.37:g.68732183G>A B2R6F4|Q05DI6 ENST00000264012.4 37 CCDS10868.1 CDH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268896.2 -3.046212 0 -19 132 0 0 1 0 NM_001793 7 13.638389 84 0.076923 PSD4 23550 broad.mit.edu hg19 2 113940791 113940791 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:113940791C>T ENST00000441564.3 + 2 927 c.758C>T c.(757-759)gCg>gTg p.A253V PSD4_ENST00000245796.6_Missense_Mutation_p.A253V Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTCTTCCTGGCGAGTCCTTGC 0.602 0 95.0 94.0 95.0 2 113940791 2203 4300 6503 SO:0001583 missense U63127 CCDS33276.1 2q13 2013-01-10 ENSG00000125637 ENSG00000125637 """Pleckstrin homology (PH) domain containing""" 19096 protein-coding gene gene with protein product 614442 12082148 Standard XM_005263634 Approved TIC, EFA6B uc002tjc.3 Q8NDX1 OTTHUMG00000153339 ENST00000441564.3:c.758C>T 2.37:g.113940791C>T ENSP00000413997:p.Ala253Val A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4 ENST00000441564.3 37 . . . . . . . . . . C 14.81 2.647658 0.47258 . . ENSG00000125637 ENST00000245796;ENST00000441564 T;T 0.10288 2.91;2.89 5.83 3.32 0.38043 . 0.513843 0.20444 N 0.092229 T 0.04634 0.0126 N 0.08118 0 0.80722 D 1 B;B 0.12630 0.006;0.003 B;B 0.04013 0.001;0.0 T 0.40813 -0.9543 9 . . . . 6.2159 0.20656 0.7554:0.1613:0.0832:0.0 . 253;253 Q8NDX1-2;Q8NDX1 .;PSD4_HUMAN V 253 ENSP00000245796:A253V;ENSP00000413997:A253V . A + 2 0 PSD4 113657262 0.994000 0.37717 0.950000 0.38849 0.725000 0.41563 1.595000 0.36708 0.462000 0.27095 -1.139000 0.01908 GCG PSD4-003 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000330791.3 56.247712 0 9 69 0 0 1 0 NM_012455 18 56.270585 20 0.473684 CHMP7 91782 broad.mit.edu hg19 8 23106868 23106868 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:23106868G>A ENST00000397677.1 + 3 1093 c.445G>A c.(445-447)Gtc>Atc p.V149I CHMP7_ENST00000313219.7_Missense_Mutation_p.V149I NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 149 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGCTGAGGAGGTCCTTGTCGC 0.557 0 66.0 58.0 61.0 8 23106868 2203 4300 6503 SO:0001583 missense BC019110 CCDS6040.1 8p21.2 2011-09-21 2011-09-21 ENSG00000147457 ENSG00000147457 """Charged multivesicular body proteins""" 28439 protein-coding gene gene with protein product 611130 """CHMP family, member 7""" 16856878 Standard NM_152272 Approved MGC29816 uc003xdc.2 Q8WUX9 OTTHUMG00000131785 ENST00000397677.1:c.445G>A 8.37:g.23106868G>A ENSP00000380794:p.Val149Ile B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50 ENST00000397677.1 37 CCDS6040.1 . . . . . . . . . . G 12.38 1.920655 0.33908 . . ENSG00000147457 ENST00000397677;ENST00000313219 T;T 0.57107 0.42;0.42 5.33 5.33 0.75918 . 0.335174 0.32416 N 0.006140 T 0.35885 0.0947 N 0.22421 0.69 0.31742 N 0.635666 P 0.39216 0.664 B 0.35353 0.201 T 0.47799 -0.9089 10 0.35671 T 0.21 -13.4 11.1296 0.48339 0.0845:0.0:0.9155:0.0 . 149 Q8WUX9 CHMP7_HUMAN I 149 ENSP00000380794:V149I;ENSP00000324491:V149I ENSP00000324491:V149I V + 1 0 CHMP7 23162813 1.000000 0.71417 0.993000 0.49108 0.861000 0.49209 5.057000 0.64294 2.495000 0.84180 0.591000 0.81541 GTC CHMP7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254717.1 48.174410 0 27 47 0 0 1 0 NM_152272 16 48.599199 9 0.640000 MEST 4232 broad.mit.edu hg19 7 130138026 130138026 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:130138026C>T ENST00000223215.4 + 5 607 c.386C>T c.(385-387)gCg>gTg p.A129V MEST_ENST00000462132.1_3'UTR|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.A120V|MEST_ENST00000437945.1_Missense_Mutation_p.A129V|MEST_ENST00000378576.4_Missense_Mutation_p.A120V|MEST_ENST00000416162.2_Missense_Mutation_p.A120V|MEST_ENST00000341441.5_Missense_Mutation_p.A120V NM_001253900.1|NM_002402.3 NP_001240829.1|NP_002393.2 Q5EB52 MEST_HUMAN mesoderm specific transcript 129 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) ATCGTGGAAGCGCTTTTGCGG 0.502 0 83.0 82.0 82.0 7 130138026 2203 4300 6503 SO:0001583 missense CCDS5822.1, CCDS5823.1, CCDS59081.1 7q32 2014-08-22 2012-12-07 ENSG00000106484 ENSG00000106484 7028 protein-coding gene gene with protein product """Paternally-expressed gene 1""" 601029 """mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)""" 8884280 Standard NM_002402 Approved PEG1 uc003vqg.3 Q5EB52 OTTHUMG00000156661 ENST00000223215.4:c.386C>T 7.37:g.130138026C>T ENSP00000223215:p.Ala129Val B2R6S1|O14973|O15007|Q6AI49|Q92571 ENST00000223215.4 37 CCDS5822.1 . . . . . . . . . . C 12.21 1.870403 0.33069 . . ENSG00000106484 ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000437637;ENST00000458161 T;T;T;T;T;T;T;T;T;T 0.71698 -0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59 5.33 3.41 0.39046 . 0.421745 0.26407 N 0.024542 T 0.63402 0.2508 L 0.55017 1.72 0.39887 D 0.973712 B;B;B;B 0.25351 0.124;0.113;0.016;0.008 B;B;B;B 0.24269 0.052;0.019;0.008;0.004 T 0.65076 -0.6256 10 0.52906 T 0.07 -5.5175 9.7535 0.40490 0.0:0.7105:0.2066:0.0829 . 115;129;129;120 B4DQW6;C9JW74;Q5EB52;Q5EB52-3 .;.;MEST_HUMAN;. V 120;120;120;120;120;120;120;129;129;120;120 ENSP00000342749:A120V;ENSP00000409505:A120V;ENSP00000408933:A120V;ENSP00000367839:A120V;ENSP00000409768:A120V;ENSP00000376884:A120V;ENSP00000407222:A120V;ENSP00000223215:A129V;ENSP00000401657:A129V;ENSP00000393709:A120V ENSP00000223215:A129V A + 2 0 MEST 129925262 0.959000 0.32827 0.295000 0.24960 0.286000 0.27126 2.122000 0.41987 1.390000 0.46547 0.561000 0.74099 GCG MEST-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345183.2 19.013391 0 18 94 0 0 1 0 NM_002402 10 25.113488 49 0.169492 LRRC30 339291 broad.mit.edu hg19 18 7231425 7231425 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:7231425G>A ENST00000383467.2 + 1 303 c.289G>A c.(289-291)Gtg>Atg p.V97M NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 97 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GACCCGGATCGTGGTCCTGAA 0.582 0 46.0 50.0 49.0 18 7231425 1943 4136 6079 SO:0001583 missense CCDS42409.1 18p11.23 2005-01-06 ENSG00000206422 30219 protein-coding gene gene with protein product Standard NM_001105581 Approved uc010wzk.2 A6NM36 ENST00000383467.2:c.289G>A 18.37:g.7231425G>A ENSP00000372959:p.Val97Met ENST00000383467.2 37 CCDS42409.1 . . . . . . . . . . G 17.15 3.316624 0.60524 . . ENSG00000206422 ENST00000383467 T 0.09817 2.94 5.65 4.78 0.61160 . 0.107337 0.64402 N 0.000006 T 0.10294 0.0252 L 0.39467 1.215 0.41749 D 0.989658 P 0.48162 0.906 B 0.38954 0.286 T 0.14755 -1.0461 10 0.33141 T 0.24 . 14.9243 0.70866 0.0688:0.0:0.9312:0.0 . 97 A6NM36 LRC30_HUMAN M 97 ENSP00000372959:V97M ENSP00000372959:V97M V + 1 0 LRRC30 7221425 1.000000 0.71417 0.923000 0.36655 0.997000 0.91878 7.263000 0.78421 1.530000 0.49136 0.650000 0.86243 GTG LRRC30-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442140.1 17.910025 0 -2 45 0 0 1 0 XM_292678 7 19.862383 23 0.233333 MYOF 26509 broad.mit.edu hg19 10 95119637 95119637 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:95119637G>A ENST00000371501.4 - 29 3195 c.3073C>T c.(3073-3075)Cga>Tga p.R1025* MYOF_ENST00000358334.5_Nonsense_Mutation_p.R1012*|MYOF_ENST00000359263.4_Nonsense_Mutation_p.R1025*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.R1025* Q9NZM1 MYOF_HUMAN myoferlin 1025 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTGCGTTTTCGGACCAGCCTT 0.512 0 203.0 192.0 196.0 10 95119637 1951 4138 6089 SO:0001587 stop_gained AB033033 CCDS41550.1, CCDS41551.1 10q24 2014-06-27 2008-11-26 2008-11-26 ENSG00000138119 ENSG00000138119 3656 protein-coding gene gene with protein product """fer-1-like family member 3""" 604603 """fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)""" FER1L3 10607832, 10995573, 17702744 Standard NM_013451 Approved KIAA1207 uc001kin.3 Q9NZM1 OTTHUMG00000018772 ENST00000359263.4:c.3073C>T 10.37:g.95119637G>A ENSP00000352208:p.Arg1025* B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4 ENST00000359263.4 37 CCDS41551.1 . . . . . . . . . . G 43 10.062300 0.99327 . . ENSG00000138119 ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502 . . . 5.36 4.45 0.53987 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -10.5338 15.6043 0.76649 0.0:0.0:0.8615:0.1385 . . . . X 1012;1025;1025;1025 . ENSP00000351094:R1012X R - 1 2 MYOF 95109627 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 1.607000 0.36836 1.478000 0.48253 0.561000 0.74099 CGA MYOF-005 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000049423.2 44.008663 0 -24 116 0 0 1 0 NM_013451 18 50.730648 68 0.209302 SUGP2 10147 broad.mit.edu hg19 19 19115139 19115139 + Missense_Mutation SNP C C T rs144507791 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:19115139C>T ENST00000601879.1 - 7 3064 c.2767G>A c.(2767-2769)Ggc>Agc p.G923S SUGP2_ENST00000600377.1_Missense_Mutation_p.G937S|SUGP2_ENST00000337018.6_Missense_Mutation_p.G923S|SUGP2_ENST00000456085.2_Missense_Mutation_p.G692S|SUGP2_ENST00000452918.2_Missense_Mutation_p.G923S Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 923 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CCGGGAAGGCCGTCGGCAGGG 0.677 0 33.0 33.0 33.0 19 19115139 2203 4300 6503 SO:0001583 missense AB002363 CCDS12392.1 19p13 2013-01-28 2010-08-10 2010-08-10 ENSG00000064607 ENSG00000064607 """G patch domain containing""" 18641 protein-coding gene gene with protein product 607993 """splicing factor, arginine/serine-rich 14""" SFRS14 12594045 Standard NM_014884 Approved KIAA0365 uc002nkx.2 Q8IX01 ENST00000601879.1:c.2767G>A 19.37:g.19115139C>T ENSP00000472286:p.Gly923Ser C9JI71|O15071|O60369|Q5JPH7|Q8WUF7 ENST00000601879.1 37 CCDS12392.1 . . . . . . . . . . C 11.23 1.576429 0.28092 2.27E-4 0.0 ENSG00000064607 ENST00000337018;ENST00000452918;ENST00000456085 T;T;T 0.11063 3.0;3.0;2.81 5.12 2.9 0.33743 . 0.643972 0.14370 N 0.323824 T 0.04861 0.0131 N 0.17082 0.46 0.09310 N 1 B;B;B 0.28470 0.213;0.213;0.052 B;B;B 0.16289 0.015;0.015;0.005 T 0.42015 -0.9476 10 0.07644 T 0.81 -10.7151 6.6204 0.22800 0.1775:0.7294:0.0:0.093 . 692;923;923 E7ETX7;A8K5G0;Q8IX01 .;.;SUGP2_HUMAN S 923;923;692 ENSP00000337926:G923S;ENSP00000389380:G923S;ENSP00000409603:G692S ENSP00000337926:G923S G - 1 0 SUGP2 18976139 0.900000 0.30661 0.689000 0.30133 0.018000 0.09664 0.484000 0.22308 0.483000 0.27608 0.462000 0.41574 GGC SUGP2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000464627.1 10.295619 0 -6 28 0 0 1 0 NM_001017392 4 10.723956 9 0.307692 EGF 1950 broad.mit.edu hg19 4 110882146 110882146 + Splice_Site SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:110882146G>A ENST00000265171.5 + 7 1634 c.e7+1 EGF_ENST00000503392.1_Splice_Site|EGF_ENST00000509793.1_Splice_Site NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) CGATGTCATCGTAAGTTATAG 0.403 0 192.0 169.0 177.0 4 110882146 2203 4300 6503 SO:0001630 splice_region_variant X04571 CCDS3689.1, CCDS54794.1, CCDS54795.1 4q25 2012-10-02 2010-05-11 ENSG00000138798 ENSG00000138798 3229 protein-coding gene gene with protein product 131530 """epidermal growth factor (beta-urogastrone)""" Standard NM_001963 Approved uc003hzy.4 P01133 OTTHUMG00000132044 ENST00000509793.1:c.1063+1G>A 4.37:g.110882146G>A B4DRK7|E7EVD2|E9PBF0|Q52LZ6 ENST00000509793.1 37 CCDS54795.1 . . . . . . . . . . G 13.60 2.284818 0.40394 . . ENSG00000138798 ENST00000509793;ENST00000265171;ENST00000503392 . . . 4.82 4.82 0.62117 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 17.9396 0.89023 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . EGF 111101595 1.000000 0.71417 0.945000 0.38365 0.293000 0.27360 8.711000 0.91396 2.225000 0.72522 0.561000 0.74099 . EGF-002 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000363798.2 5.637207 0 6 93 0 0 1 0 8 18.683629 73 0.098765 SPSB1 80176 broad.mit.edu hg19 1 9416004 9416004 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:9416004G>A ENST00000328089.6 + 2 395 c.54G>A c.(52-54)acG>acA p.T18T SPSB1_ENST00000377399.2_Silent_p.T18T|SPSB1_ENST00000357898.3_Silent_p.T18T NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 18 intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) GGGACCCCACGTACAGGCCCC 0.582 0 91.0 93.0 93.0 1 9416004 2203 4300 6503 SO:0001819 synonymous_variant CCDS102.1 1p36.22 2008-02-05 ENSG00000171621 ENSG00000171621 30628 protein-coding gene gene with protein product 611657 15713673, 12076535 Standard NM_025106 Approved SSB-1 uc010oae.2 Q96BD6 OTTHUMG00000001279 ENST00000328089.6:c.54G>A 1.37:g.9416004G>A A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5 ENST00000328089.6 37 CCDS102.1 SPSB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000003727.2 -3.918084 0 -7 59 0 0 1 0 NM_025106 3 6.752620 49 0.057692 MIR518F 0 broad.mit.edu hg19 19 54206018 54206018 + RNA SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:54206018G>A ENST00000385127.1 + 0 28 NR_030196.1 AGAGGGAAGCGCTTTCTGTTG 0.433 0 75.0 70.0 71.0 19 54206018 1568 3582 5150 19q13.42 2011-09-12 2008-12-18 ENSG00000207706 ENSG00000207706 """ncRNAs / Micro RNAs""" 32104 non-coding RNA RNA, micro MIRN518F Standard NR_030194 Approved hsa-mir-518f uc021uzx.1 19.37:g.54206018G>A ENST00000384973.1 37 MIR518F-201 KNOWN basic miRNA miRNA 0.861729 0 3 81 0 0 1 0 NR_030194 4 9.331493 44 0.083333 MEN1 0 broad.mit.edu hg19 11 64575121 64575121 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:64575121C>T ENST00000337652.1 - 4 1204 c.701G>A c.(700-702)cGc>cAc p.R234H MEN1_ENST00000377326.3_Missense_Mutation_p.R229H|MEN1_ENST00000394374.2_Missense_Mutation_p.R234H|MEN1_ENST00000312049.6_Missense_Mutation_p.R229H|MEN1_ENST00000377316.2_Missense_Mutation_p.R229H|MEN1_ENST00000443283.1_Missense_Mutation_p.R234H|MEN1_ENST00000394376.1_Missense_Mutation_p.R234H|MEN1_ENST00000377321.1_Missense_Mutation_p.R194H|MEN1_ENST00000315422.4_Missense_Mutation_p.R229H|MEN1_ENST00000377313.1_Missense_Mutation_p.R234H NM_130803.2 NP_570715 O00255 MEN1_HUMAN multiple endocrine neoplasia I 234 Interaction with FANCD2. DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GCGGTCACAGCGCATGTATGA 0.562 0 125.0 109.0 114.0 11 64575121 2201 4297 6498 SO:0001583 missense U93236 CCDS8083.1, CCDS31600.1 11q13 2014-09-17 ENSG00000133895 ENSG00000133895 7010 protein-coding gene gene with protein product """menin""" 613733 Standard NM_130799 Approved uc001obn.3 O00255 OTTHUMG00000045366 ENST00000377316.2:c.686G>A 11.37:g.64575121C>T ENSP00000366533:p.Arg229His A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2 ENST00000377316.2 37 . . . . . . . . . . C 15.48 2.847087 0.51164 . . ENSG00000133895 ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626 D;D;D;D;D;D;D;D;D;D;D;D;D 0.99394 -5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82 4.8 4.8 0.61643 . 0.064279 0.64402 D 0.000019 D 0.97433 0.9160 N 0.14661 0.345 0.41211 D 0.986448 B;D;P 0.64830 0.388;0.994;0.633 B;P;B 0.48488 0.041;0.579;0.095 D 0.97644 1.0150 10 0.39692 T 0.17 -24.3381 15.7433 0.77920 0.0:1.0:0.0:0.0 . 229;194;234 O00255-2;O00255-3;O00255 .;.;MEN1_HUMAN H 229;194;229;229;229;234;234;234;234;234;229;229;229 ENSP00000366533:R229H;ENSP00000366538:R194H;ENSP00000366543:R229H;ENSP00000308975:R229H;ENSP00000323747:R229H;ENSP00000337088:R234H;ENSP00000377901:R234H;ENSP00000377899:R234H;ENSP00000396940:R234H;ENSP00000366530:R234H;ENSP00000413944:R229H;ENSP00000394933:R229H;ENSP00000411218:R229H ENSP00000308975:R229H R - 2 0 MEN1 64331697 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.678000 0.61641 2.386000 0.81285 0.462000 0.41574 CGC MEN1-008 NOVEL not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000143886.6 39.335551 0 10 89 0 0 1 0 14 40.496006 29 0.325581 LTBP4 8425 broad.mit.edu hg19 19 41129854 41129854 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:41129854C>T ENST00000308370.7 + 30 3897 c.3897C>T c.(3895-3897)tgC>tgT p.C1299C LTBP4_ENST00000396819.3_Silent_p.C1232C|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.C667C|LTBP4_ENST00000204005.9_Silent_p.C1262C|LTBP4_ENST00000243562.9_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1300 EGF-like 14; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATGACGAGTGCGCCGATGAGG 0.582 0 34.0 41.0 39.0 19 41129854 2036 4183 6219 SO:0001819 synonymous_variant Y13622 CCDS74368.1, CCDS74369.1, CCDS74370.1 19q13.1-q13.2 2011-10-20 ENSG00000090006 """Latent transforming growth factor, beta binding proteins""" 6717 protein-coding gene gene with protein product 604710 9660815, 9271198 Standard NM_003573 Approved LTBP-4, LTBP-4L, FLJ46318, FLJ90018 uc002ooh.1 Q8N2S1 ENST00000308370.7:c.3897C>T 19.37:g.41129854C>T O00508|O75412|O75413 ENST00000308370.7 37 LTBP4-203 KNOWN basic|appris_candidate_longest protein_coding protein_coding 15.139766 0 1 47 0 0 1 0 NM_003573 6 16.164437 16 0.272727 CYP17A1 1586 broad.mit.edu hg19 10 104592367 104592367 + Missense_Mutation SNP C C T rs61754278 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:104592367C>T ENST00000369887.3 - 6 1211 c.1040G>A c.(1039-1041)cGt>cAt p.R347H NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 347 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GAGACGGTTACGGTCACTGAT 0.572 0 154.0 127.0 136.0 10 104592367 2203 4300 6503 SO:0001583 missense M19489 CCDS7541.1 10q24.3 2010-05-04 2003-02-14 2003-02-28 ENSG00000148795 ENSG00000148795 """Cytochrome P450s""" 2593 protein-coding gene gene with protein product """Steroid 17-alpha-monooxygenase""" 609300 """cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia""" CYP17 1347802 Standard NM_000102 Approved P450C17, CPT7, S17AH uc001kwg.3 P05093 OTTHUMG00000018969 ENST00000369887.3:c.1040G>A 10.37:g.104592367C>T ENSP00000358903:p.Arg347His Q5TZV7 ENST00000369887.3 37 CCDS7541.1 . . . . . . . . . . C 17.75 3.466936 0.63625 . . ENSG00000148795 ENST00000369887 T 0.70164 -0.46 5.37 4.46 0.54185 . 0.107006 0.64402 D 0.000007 T 0.81631 0.4863 M 0.81802 2.56 0.58432 D 0.999995 D 0.89917 1.0 D 0.77004 0.989 D 0.84511 0.0622 10 0.87932 D 0 . 13.9121 0.63873 0.0:0.9253:0.0:0.0747 rs61754278 347 P05093 CP17A_HUMAN H 347 ENSP00000358903:R347H ENSP00000358903:R347H R - 2 0 CYP17A1 104582357 1.000000 0.71417 0.952000 0.39060 0.049000 0.14656 7.368000 0.79567 1.393000 0.46605 0.561000 0.74099 CGT CYP17A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050101.1 49.991615 0 -17 91 0 0 1 0 NM_000102 19 53.789695 54 0.260274 MYL10 93408 broad.mit.edu hg19 7 101259574 101259574 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:101259574C>T ENST00000223167.4 - 6 636 c.459G>A c.(457-459)acG>acA p.T153T NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 153 mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 CCTCTGGGTCCGTGCCTATAA 0.592 0 101.0 80.0 87.0 7 101259574 2203 4300 6503 SO:0001819 synonymous_variant BC002778 CCDS34713.1 7q22.1 2013-01-10 ENSG00000106436 ENSG00000106436 """Myosins / Light chain"", ""EF-hand domain containing""" 29825 protein-coding gene gene with protein product 1628631 Standard NM_138403 Approved MGC3479, MYLC2PL, PLRLC uc003uyr.3 Q9BUA6 OTTHUMG00000157137 ENST00000223167.4:c.459G>A 7.37:g.101259574C>T ENST00000223167.4 37 CCDS34713.1 MYL10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347575.1 9.891388 0 18 37 0 0 1 0 NM_138403 4 10.980863 13 0.235294 VWF 7450 broad.mit.edu hg19 12 6128639 6128639 + Silent SNP G G A rs143009893 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:6128639G>A ENST00000261405.5 - 28 4199 c.3945C>T c.(3943-3945)cgC>cgT p.R1315R NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 1315 VWFA 1; binding site for platelet glycoprotein Ib. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 CCACGGCCACGCGGACCCACT 0.632 0 58.0 58.0 58.0 12 6128639 2203 4300 6503 SO:0001819 synonymous_variant CCDS8539.1 12p13.3 2014-09-17 ENSG00000110799 ENSG00000110799 """Endogenous ligands""" 12726 protein-coding gene gene with protein product 613160 F8VWF 2251280 Standard NM_000552 Approved uc001qnn.1 P04275 OTTHUMG00000168265 ENST00000261405.5:c.3945C>T 12.37:g.6128639G>A Q8TCE8|Q99806 ENST00000261405.5 37 CCDS8539.1 VWF-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399020.1 85.325797 0 -14 70 0 0 1 0 NM_000552 27 85.488720 21 0.562500 KMT2C 58508 broad.mit.edu hg19 7 151879152 151879152 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:151879152C>T ENST00000355193.2 - 36 6011 c.5793G>A c.(5791-5793)tcG>tcA p.S1931S KMT2C_ENST00000262189.6_Silent_p.S1931S lysine (K)-specific methyltransferase 2C GCCTAGATACCGATGATAAAG 0.448 0 96.0 99.0 98.0 7 151879152 2203 4300 6503 SO:0001819 synonymous_variant AF264750 CCDS5931.1 7q36 2013-05-09 2013-05-09 2013-05-09 ENSG00000055609 ENSG00000055609 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 13726 protein-coding gene gene with protein product 606833 """myeloid/lymphoid or mixed-lineage leukemia 3""" MLL3 10819331 Standard XM_005250026 Approved KIAA1506, HALR Q8NEZ4 OTTHUMG00000150553 ENST00000262189.6:c.5793G>A 7.37:g.151879152C>T Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7 ENST00000262189.6 37 CCDS5931.1 KMT2C-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000318887.3 14.928640 0 -13 77 0 0 1 0 9 24.093327 60 0.130435 ADIPOR1 51094 broad.mit.edu hg19 1 202920081 202920081 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:202920081G>A ENST00000340990.5 - 2 416 c.118C>T c.(118-120)Cgg>Tgg p.R40W ADIPOR1_ENST00000367254.3_Missense_Mutation_p.R40W|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R40W NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 40 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) GCGATTACCCGTTTGCCCTTC 0.512 0 184.0 169.0 174.0 1 202920081 2203 4300 6503 SO:0001583 missense CCDS1430.1 1q32.1 2012-08-22 ENSG00000159346 ENSG00000159346 """GPCR / Unclassified : Adiponectin receptors""" 24040 protein-coding gene gene with protein product 607945 12802337 Standard XM_006711360 Approved PAQR1, ACDCR1 uc001gyq.5 Q96A54 OTTHUMG00000041391 ENST00000340990.5:c.118C>T 1.37:g.202920081G>A ENSP00000341785:p.Arg40Trp B3KMB0|Q53HS7|Q53YY6|Q9Y360 ENST00000340990.5 37 CCDS1430.1 . . . . . . . . . . G 17.63 3.436512 0.62955 . . ENSG00000159346 ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229 D;D;D;D;D 0.96885 -4.16;-4.16;-4.16;-4.16;-4.16 5.96 5.96 0.96718 . 0.307883 0.35235 N 0.003343 D 0.90638 0.7064 N 0.22421 0.69 0.52501 D 0.999959 P 0.48589 0.912 B 0.26969 0.075 D 0.92131 0.5712 10 0.66056 D 0.02 . 17.1315 0.86727 0.0:0.0:1.0:0.0 . 40 Q96A54 ADR1_HUMAN W 40 ENSP00000341785:R40W;ENSP00000395469:R40W;ENSP00000402178:R40W;ENSP00000356223:R40W;ENSP00000392946:R40W ENSP00000341785:R40W R - 1 2 ADIPOR1 201186704 1.000000 0.71417 0.918000 0.36340 0.729000 0.41735 6.601000 0.74136 2.824000 0.97209 0.655000 0.94253 CGG ADIPOR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000099160.2 79.743232 0 -22 94 0 0 1 0 NM_015999 26 80.309671 39 0.400000 HUWE1 10075 broad.mit.edu hg19 X 53602625 53602625 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:53602625G>A ENST00000342160.3 - 44 6465 c.6008C>T c.(6007-6009)aCg>aTg p.T2003M HUWE1_ENST00000262854.6_Missense_Mutation_p.T2003M Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2003 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACCTGACTGCGTATCAAAGTC 0.458 0 111.0 87.0 95.0 X 53602625 2203 4300 6503 SO:0001583 missense AB071605 CCDS35301.1 Xp11.22 2014-06-09 2012-02-23 ENSG00000086758 ENSG00000086758 30892 protein-coding gene gene with protein product 300697 """HECT, UBA and WWE domain containing 1""" 9205841, 10998601 Standard NM_031407 Approved Ib772, KIAA0312, UREB1 uc004dsp.4 Q7Z6Z7 OTTHUMG00000021617 ENST00000342160.3:c.6008C>T X.37:g.53602625G>A ENSP00000340648:p.Thr2003Met O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9 ENST00000342160.3 37 CCDS35301.1 . . . . . . . . . . G 10.79 1.449154 0.26074 . . ENSG00000086758 ENST00000342160;ENST00000262854 T;T 0.37411 1.2;1.2 5.43 4.55 0.56014 . 0.844996 0.10359 N 0.684181 T 0.22627 0.0546 N 0.08118 0 0.09310 N 1 D;D 0.56521 0.958;0.976 B;B 0.41571 0.197;0.36 T 0.06935 -1.0799 10 0.45353 T 0.12 . 12.7868 0.57510 0.0:0.3067:0.6933:0.0 . 2003;2003 Q7Z6Z7;Q7Z6Z7-2 HUWE1_HUMAN;. M 2003 ENSP00000340648:T2003M;ENSP00000262854:T2003M ENSP00000262854:T2003M T - 2 0 HUWE1 53619350 0.951000 0.32395 0.464000 0.27143 0.881000 0.50899 5.027000 0.64109 1.049000 0.40321 0.600000 0.82982 ACG HUWE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056766.1 5.943443 0 -2 57 0 0 1 0 XM_497119 5 12.422090 39 0.113636 CACNA1D 776 broad.mit.edu hg19 3 53769529 53769529 + Splice_Site SNP C C T rs145327253 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:53769529C>T ENST00000288139.4 + 21 2928 c.2810C>T c.(2809-2811)aCg>aTg p.T937M CACNA1D_ENST00000422281.2_Splice_Site_p.T917M|CACNA1D_ENST00000350061.5_Splice_Site_p.T917M NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TTCCGGAACACGGTAAGTCCC 0.622 0 54.0 49.0 51.0 3 53769529 2203 4300 6503 SO:0001630 splice_region_variant AB209171 CCDS2872.1, CCDS46848.1, CCDS46849.1 3p14.3 2012-03-07 ENSG00000157388 ENSG00000157388 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1391 protein-coding gene gene with protein product 114206 CCHL1A2, CACNL1A2 1664412 Standard NM_000720 Approved Cav1.3, CACH3, CACN4 uc003dgu.5 Q01668 OTTHUMG00000158278 ENST00000422281.2:c.2751+1C>T 3.37:g.53769529C>T B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3 ENST00000422281.2 37 CCDS46849.1 . . . . . . . . . . C 10.05 1.245047 0.22796 2.27E-4 0.0 ENSG00000157388 ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478 D;D;D;D 0.97505 -4.41;-4.41;-4.41;-4.41 5.22 4.33 0.51752 . 0.213333 0.39475 N 0.001349 D 0.93413 0.7899 N 0.24115 0.695 0.80722 D 1 P;P;P;D 0.54047 0.939;0.82;0.68;0.964 B;B;B;P 0.47075 0.335;0.172;0.172;0.536 D 0.91665 0.5345 10 0.46703 T 0.11 . 7.7477 0.28879 0.2688:0.6458:0.0:0.0853 . 917;610;917;937 B0FYA3;Q59GD8;Q01668;Q01668-2 .;.;CAC1D_HUMAN;. M 917;937;917;610 ENSP00000288133:T917M;ENSP00000288139:T937M;ENSP00000409174:T917M;ENSP00000418014:T610M ENSP00000288139:T937M T + 2 0 CACNA1D 53744569 0.979000 0.34478 0.968000 0.41197 0.332000 0.28634 2.257000 0.43240 2.604000 0.88044 0.555000 0.69702 ACG CACNA1D-002 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000350556.1 27.158392 0 -12 38 0 0 1 0 NM_000720 8 28.451255 1 0.888889 ROBO1 6091 broad.mit.edu hg19 3 78700895 78700895 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:78700895C>T ENST00000436010.2 - 17 3679 c.2682G>A c.(2680-2682)gcG>gcA p.A894A ROBO1_ENST00000464233.1_Silent_p.A933A|ROBO1_ENST00000495273.1_Silent_p.A897A|ROBO1_ENST00000467549.1_Silent_p.A897A Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 933 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCTGATACCCGCGTAGGTAC 0.373 0 61.0 57.0 58.0 3 78700895 1880 4114 5994 SO:0001819 synonymous_variant AF040990 CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1 3p12.3 2013-02-11 2001-11-28 ENSG00000169855 ENSG00000169855 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 10249 protein-coding gene gene with protein product 602430 """roundabout (axon guidance receptor, Drosophila) homolog 1""" 9458045, 9608531 Standard NM_002941 Approved DUTT1, FLJ21882, SAX3 uc003dqe.2 Q9Y6N7 OTTHUMG00000158843 ENST00000464233.1:c.2799G>A 3.37:g.78700895C>T B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7 ENST00000464233.1 37 CCDS54611.1 ROBO1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352610.1 35.294551 0 -5 17 0 0 1 0 NM_002941 9 35.292597 0 1.000000 EPPK1 83481 broad.mit.edu hg19 8 144945210 144945210 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:144945210C>T ENST00000525985.1 - 2 2283 c.2212G>A c.(2212-2214)Gtg>Atg p.V738M P58107 EPIPL_HUMAN epiplakin 1 738 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCACGGGCACGCGGTGGCTG 0.657 0 74.0 78.0 77.0 8 144945210 2038 4153 6191 SO:0001583 missense AB051895 CCDS75800.1 8q24.3 2014-09-17 ENSG00000261150 15577 protein-coding gene gene with protein product """epidermal autoantigen 450K""" 607553 11278896, 15671067 Standard NM_031308 Approved EPIPL1 uc003zaa.1 P58107 ENST00000525985.1:c.2212G>A 8.37:g.144945210C>T ENSP00000436337:p.Val738Met Q76E58|Q9NSU9 ENST00000525985.1 37 . . . . . . . . . . C 18.36 3.606780 0.66558 . . ENSG00000227184 ENST00000525985 T 0.72725 -0.68 5.06 -0.187 0.13268 . . . . . T 0.77512 0.4141 M 0.63208 1.945 0.19300 N 0.999978 D 0.69078 0.997 P 0.61003 0.882 T 0.68375 -0.5425 9 0.59425 D 0.04 . 11.4787 0.50312 0.0:0.4244:0.5017:0.0739 . 738 E9PPU0 . M 738 ENSP00000436337:V738M ENSP00000436337:V738M V - 1 0 EPPK1 145017198 0.000000 0.05858 0.707000 0.30419 0.869000 0.49853 -2.418000 0.01034 0.021000 0.15133 -0.165000 0.13383 GTG EPPK1-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000382675.1 3.482423 0 -20 91 0 0 1 0 NM_031308 7 14.921057 64 0.098592 TCHH 7062 broad.mit.edu hg19 1 152081633 152081633 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:152081633G>A ENST00000368804.1 - 2 4059 c.4060C>T c.(4060-4062)Cgc>Tgc p.R1354C NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1354 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTGGCGGCGCAGCGGCTGT 0.572 0 138.0 144.0 142.0 1 152081633 1890 4107 5997 SO:0001583 missense L09190 CCDS41396.1 1q21-q23 2013-01-10 2006-01-27 ENSG00000159450 ENSG00000159450 """EF-hand domain containing""" 11791 protein-coding gene gene with protein product 190370 THH 1431214 Standard NM_007113 Approved uc001ezp.3 Q07283 OTTHUMG00000013066 ENST00000368804.1:c.4060C>T 1.37:g.152081633G>A ENSP00000357794:p.Arg1354Cys Q5VUI3 ENST00000368804.1 37 CCDS41396.1 . . . . . . . . . . G 6.776 0.512198 0.12944 . . ENSG00000159450 ENST00000368804 T 0.07327 3.2 3.89 0.815 0.18763 . . . . . T 0.01905 0.0060 L 0.46157 1.445 0.09310 N 1 P 0.34587 0.458 B 0.19391 0.025 T 0.42716 -0.9435 9 0.54805 T 0.06 -0.0532 5.1338 0.14924 0.2864:0.0:0.5642:0.1494 . 1354 Q07283 TRHY_HUMAN C 1354 ENSP00000357794:R1354C ENSP00000357794:R1354C R - 1 0 TCHH 150348257 0.005000 0.15991 0.001000 0.08648 0.067000 0.16453 0.756000 0.26419 -0.124000 0.11724 -1.135000 0.01939 CGC TCHH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000036671.2 9.409212 0 -61 210 0 0 1 0 NM_007113 18 40.494369 171 0.095238 MRGPRX2 117194 broad.mit.edu hg19 11 19077851 19077851 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:19077851C>T ENST00000329773.2 - 2 186 c.99G>A c.(97-99)ccG>ccA p.P33P NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 33 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 TCAGGAAGACCGGGATCAGGG 0.562 0 148.0 158.0 154.0 11 19077851 2199 4293 6492 SO:0001819 synonymous_variant CCDS7847.1 11p15.1 2013-10-10 ENSG00000183695 ENSG00000183695 """GPCR / Class A : Orphans""" 17983 protein-coding gene gene with protein product 607228 11551509 Standard NM_054030 Approved MRGX2 uc001mph.3 Q96LB1 OTTHUMG00000166098 ENST00000329773.2:c.99G>A 11.37:g.19077851C>T B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7 ENST00000329773.2 37 CCDS7847.1 MRGPRX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387819.1 50.486404 0 -33 120 0 0 1 0 NM_054030 22 60.723103 93 0.191304 TXN2 25828 broad.mit.edu hg19 22 36876736 36876736 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:36876736C>T ENST00000216185.2 - 2 615 c.149G>A c.(148-150)cGg>cAg p.R50Q TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R50Q Q99757 THIOM_HUMAN thioredoxin 2 50 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 GTATATTGTCCGGGCTGGGTT 0.552 0 157.0 133.0 142.0 22 36876736 2203 4300 6503 SO:0001583 missense U78678 CCDS13928.1 22q13.1 2008-06-11 ENSG00000100348 ENSG00000100348 17772 protein-coding gene gene with protein product 609063 9006939, 17220299 Standard NM_012473 Approved MT-TRX uc003apk.1 Q99757 OTTHUMG00000150596 ENST00000216185.2:c.149G>A 22.37:g.36876736C>T ENSP00000216185:p.Arg50Gln Q5JZA0|Q6FH60|Q9UH29 ENST00000216185.2 37 CCDS13928.1 . . . . . . . . . . c 16.64 3.179378 0.57800 . . ENSG00000100348 ENST00000216185;ENST00000403313 T;T 0.13657 2.57;2.57 5.59 1.16 0.20824 Thioredoxin-like fold (1); 0.194220 0.42294 N 0.000734 T 0.13670 0.0331 M 0.66939 2.045 0.33751 D 0.620594 D 0.58620 0.983 B 0.43052 0.406 T 0.23976 -1.0173 10 0.46703 T 0.11 -13.0814 5.2403 0.15467 0.0:0.5432:0.1382:0.3186 . 50 Q99757 THIOM_HUMAN Q 50 ENSP00000216185:R50Q;ENSP00000385393:R50Q ENSP00000216185:R50Q R - 2 0 TXN2 35206682 0.912000 0.30974 0.969000 0.41365 0.090000 0.18270 2.182000 0.42556 0.343000 0.23821 -0.355000 0.07637 CGG TXN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000319016.1 77.665512 0 -37 73 0 0 1 0 NM_012473 25 78.029008 35 0.416667 COL5A1 1289 broad.mit.edu hg19 9 137697060 137697060 + Splice_Site SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:137697060G>A ENST00000371817.3 + 41 3672 c.3258G>A c.(3256-3258)gcG>gcA p.A1086A NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1086 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAGGCCCTGCGGTGAGTCAAA 0.602 0 80.0 79.0 79.0 9 137697060 2203 4300 6503 SO:0001630 splice_region_variant D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 """Collagens""" 2209 protein-coding gene gene with protein product """alpha 1 type V collagen""" 120215 1572660 Standard NM_001278074 Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.3258+1G>A 9.37:g.137697060G>A Q15094|Q5SUX4 ENST00000371817.3 37 CCDS6982.1 COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054954.2 62.023428 0 -6 59 0 0 1 0 NM_000093 19 62.045121 21 0.475000 MAP3K19 80122 broad.mit.edu hg19 2 135738851 135738851 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:135738851G>A ENST00000375845.3 - 9 3490 c.3460C>T c.(3460-3462)Cgt>Tgt p.R1154C MAP3K19_ENST00000392918.3_Missense_Mutation_p.R288C|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R286C|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R336C|MAP3K19_ENST00000315513.3_Missense_Mutation_p.R15C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R1041C NM_001018044.2|NM_025052.3 NP_001018054.1|NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GGCCCAAAACGGTTTATAATA 0.418 0 120.0 118.0 119.0 2 135738851 2203 4300 6503 SO:0001583 missense AK026727 CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1 2q21.3 2012-10-16 2012-10-16 2012-10-16 ENSG00000176601 ENSG00000176601 """Mitogen-activated protein kinase cascade / Kinase kinase kinases""" 26249 protein-coding gene gene with protein product """Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)""" YSK4 12477932 Standard NM_001282883 Approved FLJ23074 uc002tue.1 Q56UN5 OTTHUMG00000074083 ENST00000375845.3:c.3460C>T 2.37:g.135738851G>A ENSP00000365005:p.Arg1154Cys B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2 ENST00000375845.3 37 CCDS2176.2 . . . . . . . . . . G 17.65 3.441430 0.63067 . . ENSG00000176601 ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513 T;T;T;T;T;T;T 0.67698 -0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28 5.75 5.75 0.90469 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.47093 D 0.000250 D 0.86272 0.5893 M 0.91354 3.2 0.46798 D 0.999206 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.91635 0.981;0.996;0.99;0.99;0.999 D 0.88535 0.3105 10 0.72032 D 0.01 . 18.9458 0.92621 0.0:0.0:1.0:0.0 . 286;1041;288;336;1154 B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5 .;.;.;.;YSK4_HUMAN C 1154;1041;336;288;286;544;15 ENSP00000365005:R1154C;ENSP00000351140:R1041C;ENSP00000365004:R336C;ENSP00000376650:R288C;ENSP00000376649:R286C;ENSP00000392827:R544C;ENSP00000321160:R15C ENSP00000321160:R15C R - 1 0 YSK4 135455321 1.000000 0.71417 1.000000 0.80357 0.761000 0.43186 4.931000 0.63469 2.714000 0.92807 0.563000 0.77884 CGT MAP3K19-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000158244.1 143.703909 0 -39 98 0 0 1 0 NM_025052 44 143.727027 41 0.517647 HSPG2 3339 broad.mit.edu hg19 1 22176662 22176662 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:22176662G>A ENST00000374695.3 - 57 7397 c.7318C>T c.(7318-7320)Cgg>Tgg p.R2440W HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2440 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) GACTCGATCCGGACCGTGGGG 0.637 0 45.0 50.0 48.0 1 22176662 2203 4300 6503 SO:0001583 missense M85289 CCDS30625.1 1p36.1-p35 2013-01-29 2007-02-16 2007-02-16 ENSG00000142798 ENSG00000142798 """Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 5273 protein-coding gene gene with protein product """perlecan proteoglycan""" 142461 """Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)""" SJS1 1685141, 11941538 Standard XM_005245863 Approved perlecan, PRCAN uc001bfj.3 P98160 OTTHUMG00000002674 ENST00000374695.3:c.7318C>T 1.37:g.22176662G>A ENSP00000363827:p.Arg2440Trp Q16287|Q5SZI3|Q9H3V5 ENST00000374695.3 37 CCDS30625.1 . . . . . . . . . . G 19.53 3.844619 0.71488 . . ENSG00000142798 ENST00000374695 T 0.15487 2.42 5.29 4.29 0.51040 Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.34725 N 0.003728 T 0.43942 0.1270 M 0.83603 2.65 0.47584 D 0.99946 D;D 0.89917 1.0;1.0 D;D 0.72982 0.978;0.979 T 0.47787 -0.9090 10 0.66056 D 0.02 . 14.2236 0.65843 0.0:0.0:0.8404:0.1596 . 380;2440 Q59EG0;P98160 .;PGBM_HUMAN W 2440 ENSP00000363827:R2440W ENSP00000363827:R2440W R - 1 2 HSPG2 22049249 0.919000 0.31177 1.000000 0.80357 0.875000 0.50365 1.513000 0.35823 2.478000 0.83669 0.561000 0.74099 CGG HSPG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007598.1 29.605460 0 -15 58 0 0 1 0 NM_005529 11 31.930212 32 0.255814 CDCP2 200008 broad.mit.edu hg19 1 54610386 54610386 + Silent SNP G G A rs150004831 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:54610386G>A ENST00000371330.1 - 2 1027 c.180C>T c.(178-180)atC>atT p.I60I RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 60 CUB 1. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CGGCCACCACGATCAGCCAGC 0.557 0 95.0 78.0 84.0 1 54610386 2203 4300 6503 SO:0001819 synonymous_variant CCDS588.2 1p32.3 2011-02-10 ENSG00000157211 ENSG00000157211 27297 protein-coding gene gene with protein product 612320 12477932 Standard NM_201546 Approved uc001cwv.2 Q5VXM1 OTTHUMG00000155307 ENST00000371330.1:c.180C>T 1.37:g.54610386G>A Q6ZWJ3 ENST00000371330.1 37 CCDS588.2 CDCP2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000022209.2 31.050285 0 -1 29 0 0 1 0 NM_201546 10 31.061722 9 0.526316 GIT1 28964 broad.mit.edu hg19 17 27902157 27902157 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:27902157G>A ENST00000225394.3 - 19 2261 c.2013C>T c.(2011-2013)ttC>ttT p.F671F GIT1_ENST00000579937.1_Silent_p.F671F|GIT1_ENST00000394869.3_Silent_p.F680F|GIT1_ENST00000581348.1_Silent_p.F657F|RP11-68I3.2_ENST00000581474.1_RNA NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 671 Interaction with PXN and TGFB1I1 (By similarity). regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) AGCAGGGCACGAAGCTGCGGG 0.607 0 69.0 70.0 70.0 17 27902157 2203 4300 6503 SO:0001819 synonymous_variant AF124490 CCDS11250.1, CCDS42290.1 17p11.2 2013-01-10 2008-09-05 ENSG00000108262 ENSG00000108262 """ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing""" 4272 protein-coding gene gene with protein product 608434 """G protein-coupled receptor kinase interactor 1""" 9826657, 10896954 Standard NM_014030 Approved uc002heg.2 Q9Y2X7 OTTHUMG00000132730 ENST00000394869.3:c.2040C>T 17.37:g.27902157G>A B4DGU9|B4DSV3|Q86SS0|Q9BRJ4 ENST00000394869.3 37 CCDS42290.1 GIT1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256075.1 45.886716 0 4 78 0 0 1 0 NM_014030 16 46.826616 30 0.347826 THSD1 55901 broad.mit.edu hg19 13 52952669 52952669 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr13:52952669G>A ENST00000349258.4 - 4 1821 c.1277C>T c.(1276-1278)tCg>tTg p.S426L THSD1_ENST00000258613.4_Missense_Mutation_p.S479L|THSD1_ENST00000544466.1_Missense_Mutation_p.S100L NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 479 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TCCCCCATCCGAGAAGCTCCC 0.652 0 45.0 51.0 49.0 13 52952669 2203 4300 6503 SO:0001583 missense AK096289 CCDS9432.1, CCDS9433.1 13q14.13 2010-04-20 2004-03-11 ENSG00000136114 ENSG00000136114 17754 protein-coding gene gene with protein product """thrombospondin, type I, domain 1""" Standard NM_018676 Approved TMTSP uc001vgo.3 Q9NS62 OTTHUMG00000016963 ENST00000258613.4:c.1436C>T 13.37:g.52952669G>A ENSP00000258613:p.Ser479Leu A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2 ENST00000258613.4 37 CCDS9432.1 . . . . . . . . . . g 16.22 3.061347 0.55432 . . ENSG00000136114 ENST00000349258;ENST00000544466;ENST00000258613 T;T;T 0.47528 1.51;0.84;1.72 6.06 5.22 0.72569 . 0.069945 0.64402 D 0.000015 T 0.44767 0.1309 M 0.71581 2.175 0.47621 D 0.999472 P;P 0.37525 0.588;0.598 B;B 0.29524 0.103;0.076 T 0.51942 -0.8641 10 0.87932 D 0 -9.7381 12.488 0.55885 0.1382:0.0:0.8618:0.0 . 426;479 Q9NS62-2;Q9NS62 .;THSD1_HUMAN L 426;100;479 ENSP00000340650:S426L;ENSP00000438512:S100L;ENSP00000258613:S479L ENSP00000258613:S479L S - 2 0 THSD1 51850670 1.000000 0.71417 0.909000 0.35828 0.012000 0.07955 5.899000 0.69846 1.577000 0.49804 0.650000 0.86243 TCG THSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045058.3 38.869962 0 -6 45 0 0 1 0 13 39.045813 18 0.419355 ZDHHC5 25921 broad.mit.edu hg19 11 57466582 57466582 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:57466582G>A ENST00000287169.3 + 11 3036 c.1674G>A c.(1672-1674)ccG>ccA p.P558P ZDHHC5_ENST00000527985.1_Silent_p.P505P NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 558 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 CCCCACTCCCGGGCCGTGAGG 0.592 0 63.0 69.0 67.0 11 57466582 2201 4296 6497 SO:0001819 synonymous_variant AB051535 CCDS7965.1 11q13.1 2008-05-02 ENSG00000156599 ENSG00000156599 """Zinc fingers, DHHC-type""" 18472 protein-coding gene gene with protein product 614586 11214970 Standard NM_015457 Approved KIAA1748, ZNF375 uc001nkx.1 Q9C0B5 OTTHUMG00000167198 ENST00000287169.3:c.1674G>A 11.37:g.57466582G>A Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7 ENST00000287169.3 37 CCDS7965.1 ZDHHC5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393694.1 103.973015 0 17 117 0 0 1 0 NM_015457 33 104.001205 36 0.478261 KLHL26 55295 broad.mit.edu hg19 19 18778890 18778890 + Missense_Mutation SNP G G A rs148044384 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:18778890G>A ENST00000300976.4 + 3 773 c.683G>A c.(682-684)cGc>cAc p.R228H KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 228 BACK. breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 GACCTGTTCCGCGCGGCCGTC 0.687 0 31.0 31.0 31.0 19 18778890 2203 4297 6500 SO:0001583 missense CCDS12384.1 19p13.11 2013-10-15 2013-02-22 ENSG00000167487 ENSG00000167487 """Kelch-like"", ""BTB/POZ domain containing""" 25623 protein-coding gene gene with protein product """kelch-like 26 (Drosophila)""" Standard XM_006722785 Approved uc002njz.1 Q53HC5 OTTHUMG00000183114 ENST00000300976.4:c.683G>A 19.37:g.18778890G>A ENSP00000300976:p.Arg228His Q8TAP0|Q9NUX3 ENST00000300976.4 37 CCDS12384.1 . . . . . . . . . . G 0.987 -0.695228 0.03303 2.27E-4 0.0 ENSG00000167487 ENST00000300976 T 0.68903 -0.36 5.04 0.0318 0.14172 BTB/Kelch-associated (2); 0.315983 0.35207 N 0.003378 T 0.31734 0.0806 N 0.02120 -0.675 0.32269 N 0.569086 B 0.06786 0.001 B 0.06405 0.002 T 0.26326 -1.0106 9 . . . . 8.1212 0.30971 0.448:0.0:0.552:0.0 . 228 Q53HC5 KLH26_HUMAN H 228 ENSP00000300976:R228H . R + 2 0 KLHL26 18639890 0.018000 0.18449 0.188000 0.23233 0.110000 0.19582 0.301000 0.19174 0.077000 0.16863 0.591000 0.81541 CGC KLHL26-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465145.1 49.771245 0 -11 45 0 0 1 0 NM_018316 17 49.777510 18 0.485714 GGA1 26088 broad.mit.edu hg19 22 38013030 38013030 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:38013030G>A ENST00000381756.5 + 3 366 c.230G>A c.(229-231)cGt>cAt p.R77H GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000406772.1_Intron|GGA1_ENST00000414350.3_Missense_Mutation_p.R77H|GGA1_ENST00000405147.3_Intron Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 69 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GCCACCATCCGTCCCCCGCCA 0.627 0 47.0 47.0 47.0 22 38013030 2200 4294 6494 SO:0001583 missense AF190862 CCDS13951.1, CCDS33643.1, CCDS54526.1 22q13.31 2010-02-12 2010-02-12 ENSG00000100083 ENSG00000100083 17842 protein-coding gene gene with protein product 606004 10747088, 10747089, 16407204 Standard NM_013365 Approved uc003atc.3 Q9UJY5 OTTHUMG00000030985 ENST00000381756.5:c.230G>A 22.37:g.38013030G>A ENSP00000371175:p.Arg77His A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1 ENST00000381756.5 37 . . . . . . . . . . A 11.15 1.553170 0.27739 0.001591 0.0 ENSG00000100083 ENST00000414350;ENST00000381756 T 0.18016 2.24 3.72 -3.1 0.05315 . 3.014390 0.01323 N 0.010992 T 0.09158 0.0226 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.21518 -1.0243 8 . . . 20.4463 4.4418 0.11577 0.2843:0.0:0.4628:0.253 . 77 Q8NCS6 . H 77 ENSP00000371175:R77H . R + 2 0 GGA1 36342976 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.498000 0.06420 -0.516000 0.06470 -0.939000 0.02691 CGT GGA1-002 NOVEL non_canonical_TEC|basic protein_coding protein_coding OTTHUMT00000104183.2 6.451906 0 -2 9 0 0 1 0 NM_013365 2 6.524597 1 0.666667 LRRC8A 56262 broad.mit.edu hg19 9 131670351 131670351 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:131670351C>T ENST00000259324.5 + 3 1431 c.908C>T c.(907-909)aCg>aTg p.T303M LRRC8A_ENST00000372599.3_Missense_Mutation_p.T303M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T303M NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 303 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GAGAGCCTGACGGGCTACCGC 0.547 0 240.0 182.0 202.0 9 131670351 2203 4300 6503 SO:0001583 missense AB037858 CCDS35155.1 9q34.2 2014-09-17 2005-06-29 2005-06-29 ENSG00000136802 ENSG00000136802 19027 protein-coding gene gene with protein product 608360 """leucine rich repeat containing 8""" LRRC8 Standard NM_001127244 Approved KIAA1437, FLJ10337 uc010myp.3 Q8IWT6 OTTHUMG00000020766 ENST00000259324.5:c.908C>T 9.37:g.131670351C>T ENSP00000259324:p.Thr303Met Q6UXM2|Q8NCI0|Q9P2B1 ENST00000259324.5 37 CCDS35155.1 . . . . . . . . . . C 15.86 2.956518 0.53293 . . ENSG00000136802 ENST00000372600;ENST00000372599;ENST00000259324 T;T;T 0.52983 0.64;0.64;0.64 5.09 5.09 0.68999 . 0.000000 0.85682 D 0.000000 T 0.70272 0.3205 M 0.78456 2.415 0.58432 D 0.999994 D 0.89917 1.0 D 0.91635 0.999 T 0.73597 -0.3932 10 0.56958 D 0.05 . 17.4817 0.87674 0.0:1.0:0.0:0.0 . 303 Q8IWT6 LRC8A_HUMAN M 303 ENSP00000361682:T303M;ENSP00000361680:T303M;ENSP00000259324:T303M ENSP00000259324:T303M T + 2 0 LRRC8A 130710172 1.000000 0.71417 0.993000 0.49108 0.960000 0.62799 7.818000 0.86416 2.365000 0.80145 0.462000 0.41574 ACG LRRC8A-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054516.2 115.041408 0 -1 85 0 0 1 0 NM_019594 38 115.206988 46 0.452381 SBF1 6305 broad.mit.edu hg19 22 50899059 50899059 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:50899059G>A ENST00000380817.3 - 24 3233 c.3050C>T c.(3049-3051)cCg>cTg p.P1017L SBF1_ENST00000390679.3_Missense_Mutation_p.P1017L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1018L NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GATGTCCGGCGGGTACCGCAG 0.602 0 91.0 99.0 96.0 22 50899059 2053 4186 6239 SO:0001583 missense U93181 CCDS14091.1, CCDS14091.2 22q13.33 2013-01-10 ENSG00000100241 ENSG00000100241 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing""" 10542 protein-coding gene gene with protein product """myotubularin related 5"", ""DENN/MADD domain containing 7A""" 603560 9537414, 9736772 Standard NM_002972 Approved MTMR5, DENND7A uc003blh.3 O95248 OTTHUMG00000150204 ENST00000380817.3:c.3050C>T 22.37:g.50899059G>A ENSP00000370196:p.Pro1017Leu A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8 ENST00000380817.3 37 CCDS14091.2 . . . . . . . . . . G 15.91 2.973524 0.53720 . . ENSG00000100241 ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679 D;D;D 0.89415 -2.51;-2.51;-2.51 4.47 4.47 0.54385 . 0.061206 0.64402 D 0.000003 D 0.94248 0.8153 M 0.79123 2.44 0.80722 D 1 D;D 0.89917 0.999;1.0 D;D 0.91635 0.935;0.999 D 0.95181 0.8299 10 0.87932 D 0 . 16.711 0.85385 0.0:0.0:1.0:0.0 . 1017;1017 O95248;O95248-4 MTMR5_HUMAN;. L 1017;1018;1027;1017 ENSP00000370196:P1017L;ENSP00000252027:P1018L;ENSP00000375097:P1017L ENSP00000336522:P1027L P - 2 0 SBF1 49245925 1.000000 0.71417 0.899000 0.35326 0.199000 0.23934 6.301000 0.72782 2.027000 0.59764 0.467000 0.42956 CCG SBF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316819.2 48.525240 0 -7 144 0 0 1 0 18 52.608843 54 0.250000 CXCR2P1 0 broad.mit.edu hg19 2 218925542 218925542 + RNA SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:218925542C>T ENST00000439871.1 - 0 838 NR_002712.1 TGTATTGTTGCCCATGTCCTC 0.517 0 M98335 2q35 2012-05-02 2010-04-14 2010-04-14 ENSG00000229754 ENSG00000229754 6028 pseudogene pseudogene """interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene""" IL8RBP, CXCR2P 1427896, 1303245 Standard NR_002712 Approved uc002vgx.3 OTTHUMG00000155244 2.37:g.218925542C>T ENST00000439871.1 37 CXCR2P1-002 KNOWN basic processed_transcript pseudogene OTTHUMT00000338985.1 18.210568 0 -2 47 0 0 1 0 NR_002712 7 19.979820 22 0.241379 MYCBPAP 84073 broad.mit.edu hg19 17 48597028 48597028 + Nonsense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:48597028C>T ENST00000323776.5 + 7 1087 c.925C>T c.(925-927)Cga>Tga p.R309* MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.R272* NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 272 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GTTCTGGAGTCGACTGGAATA 0.532 0 90.0 81.0 84.0 17 48597028 2203 4300 6503 SO:0001587 stop_gained BC028393 CCDS32680.2 17q21.33 2004-02-19 ENSG00000136449 ENSG00000136449 19677 protein-coding gene gene with protein product 609835 12151104 Standard NM_032133 Approved AMAP-1, DKFZp434N1415 uc010wmr.2 Q8TBZ2 OTTHUMG00000157184 ENST00000323776.5:c.925C>T 17.37:g.48597028C>T ENSP00000323184:p.Arg309* ENST00000323776.5 37 CCDS32680.2 . . . . . . . . . . C 36 5.838983 0.97009 . . ENSG00000136449 ENST00000323776;ENST00000436259 . . . 5.86 5.86 0.93980 . 0.756894 0.12151 N 0.494885 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.11794 T 0.64 0.0517 9.8612 0.41116 0.0:0.7871:0.1406:0.0723 . . . . X 309;272 . ENSP00000323184:R309X R + 1 2 MYCBPAP 45952027 0.082000 0.21442 0.886000 0.34754 0.931000 0.56810 2.335000 0.43929 2.775000 0.95449 0.563000 0.77884 CGA MYCBPAP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000347814.1 11.359220 0 7 65 0 0 1 0 NM_032133 5 13.867780 22 0.185185 SRSF4 6429 broad.mit.edu hg19 1 29475634 29475634 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:29475634C>T ENST00000373795.4 - 6 1007 c.773G>A c.(772-774)cGc>cAc p.R258H SRSF4_ENST00000546138.1_Silent_p.P156P|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 258 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 GCTATGGCTGCGGCTGCGGCT 0.597 0 133.0 148.0 143.0 1 29475634 2203 4300 6503 SO:0001583 missense BC002781 CCDS333.1 1p35.3 2013-02-12 2010-06-22 2010-06-22 ENSG00000116350 ENSG00000116350 """Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing""" 10786 protein-coding gene gene with protein product """SR splicing factor 4""" 601940 """splicing factor, arginine/serine-rich 4""" SFRS4 8321209, 20516191 Standard NM_005626 Approved SRP75 uc001bro.3 Q08170 OTTHUMG00000003663 ENST00000373795.4:c.773G>A 1.37:g.29475634C>T ENSP00000362900:p.Arg258His Q5VXP1|Q9BUA4|Q9UEB5 ENST00000373795.4 37 CCDS333.1 . . . . . . . . . . C 14.92 2.679701 0.47886 . . ENSG00000116350 ENST00000373795;ENST00000434636 T 0.16897 2.31 5.62 5.62 0.85841 . 0.230484 0.38548 N 0.001647 T 0.33469 0.0864 L 0.48642 1.525 0.80722 D 1 D 0.71674 0.998 P 0.59487 0.858 T 0.00787 -1.1566 10 0.52906 T 0.07 . 18.6474 0.91416 0.0:1.0:0.0:0.0 . 258 Q08170 SRSF4_HUMAN H 258 ENSP00000362900:R258H ENSP00000362900:R258H R - 2 0 SRSF4 29348221 1.000000 0.71417 1.000000 0.80357 0.873000 0.50193 2.380000 0.44327 2.653000 0.90120 0.655000 0.94253 CGC SRSF4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000010392.1 329.327359 0 -94 214 0 0 1 0 NM_005626 106 329.900290 131 0.447257 RBL1 5933 broad.mit.edu hg19 20 35635830 35635830 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:35635830G>A ENST00000373664.3 - 20 2921 c.2855C>T c.(2854-2856)gCg>gTg p.A952V RBL1_ENST00000344359.3_Missense_Mutation_p.A952V NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 952 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GTCCTGATTCGCCAAGTCGTA 0.323 0 136.0 131.0 133.0 20 35635830 2203 4300 6503 SO:0001583 missense L14812 CCDS13289.1, CCDS13290.1 20q11.23 2014-03-11 2014-03-11 ENSG00000080839 ENSG00000080839 9893 protein-coding gene gene with protein product 116957 1833063 Standard NM_183404 Approved p107, cp107, PRB1 uc002xgi.3 P28749 OTTHUMG00000032406 ENST00000373664.3:c.2855C>T 20.37:g.35635830G>A ENSP00000362768:p.Ala952Val A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1 ENST00000373664.3 37 CCDS13289.1 . . . . . . . . . . G 18.43 3.621766 0.66787 0.0 1.16E-4 ENSG00000080839 ENST00000373664;ENST00000344359 T;T 0.51071 0.72;0.72 5.29 5.29 0.74685 Cyclin-like (2); 0.303746 0.30302 N 0.009927 T 0.38825 0.1055 L 0.27053 0.805 0.22754 N 0.998774 B;B 0.25719 0.132;0.109 B;B 0.24269 0.049;0.052 T 0.20840 -1.0263 10 0.34782 T 0.22 -7.4906 19.1061 0.93296 0.0:0.0:1.0:0.0 . 952;952 P28749-2;P28749 .;RBL1_HUMAN V 952 ENSP00000362768:A952V;ENSP00000343646:A952V ENSP00000343646:A952V A - 2 0 RBL1 35069244 1.000000 0.71417 1.000000 0.80357 0.950000 0.60333 7.882000 0.87258 2.752000 0.94435 0.585000 0.79938 GCG RBL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079067.2 17.709772 0 -9 54 0 0 1 0 NM_002895 7 19.662332 23 0.233333 TAS1R2 80834 broad.mit.edu hg19 1 19181079 19181079 + Silent SNP G G A rs148401055 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:19181079G>A ENST00000375371.3 - 3 906 c.885C>T c.(883-885)ggC>ggT p.G295G RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 295 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCCACACGGCGCCAGTGAAGT 0.632 1 55.0 53.0 53.0 1 19181079 2203 4300 6503 SO:0001819 synonymous_variant CCDS187.1 1p36.13 2012-08-22 2003-03-07 ENSG00000179002 ENSG00000179002 """Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors""" 14905 protein-coding gene gene with protein product 606226 """G protein-coupled receptor 71""" GPR71 Standard NM_152232 Approved T1R2, TR2 uc001bba.1 Q8TE23 OTTHUMG00000002442 ENST00000375371.3:c.885C>T 1.37:g.19181079G>A Q5TZ19 ENST00000375371.3 37 CCDS187.1 TAS1R2-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000006953.1 19.721867 0 -17 28 0 0 1 0 7 19.736468 8 0.466667 RXRG 6258 broad.mit.edu hg19 1 165378811 165378811 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:165378811C>T ENST00000359842.5 - 7 1332 c.1030G>A c.(1030-1032)Ggc>Agc p.G344S NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 344 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) AAGATGGAGCCGACCCCAGCA 0.517 0 88.0 72.0 78.0 1 165378811 2203 4300 6503 SO:0001583 missense U38480 CCDS1248.1, CCDS72970.1 1q22-q23 2013-01-16 ENSG00000143171 ENSG00000143171 """Nuclear hormone receptors""" 10479 protein-coding gene gene with protein product """nuclear receptor subfamily 2 group B member 3""" 180247 8034312 Standard NR_033824 Approved NR2B3 uc001gda.3 P48443 OTTHUMG00000034626 ENST00000359842.5:c.1030G>A 1.37:g.165378811C>T ENSP00000352900:p.Gly344Ser A6NIP1|Q6IBU7 ENST00000359842.5 37 CCDS1248.1 . . . . . . . . . . C 31 5.065622 0.93898 . . ENSG00000143171 ENST00000359842 D 0.96265 -3.96 5.08 5.08 0.68730 Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); 0.000000 0.85682 D 0.000000 D 0.97676 0.9238 M 0.77712 2.385 0.80722 D 1.000000 D 0.89917 1.0 D 0.97110 1.0 D 0.96886 0.9649 9 0.37606 T 0.19 . 17.222 0.86960 0.0:1.0:0.0:0.0 . 344 P48443 RXRG_HUMAN S 344 ENSP00000352900:G344S ENSP00000352900:G344S G - 1 0 RXRG 163645435 1.000000 0.71417 0.963000 0.40424 0.998000 0.95712 7.400000 0.79949 2.620000 0.88729 0.655000 0.94253 GGC RXRG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083794.2 19.150633 0 -18 11 0 0 1 0 NM_006917 6 19.170391 5 0.545455 RRNAD1 51093 broad.mit.edu hg19 1 156703898 156703898 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:156703898C>T ENST00000368216.4 + 6 1364 c.734C>T c.(733-735)cCg>cTg p.P245L RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 245 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 CTGGAGAACCCGTGTCAGGGC 0.622 0 71.0 71.0 71.0 1 156703898 2203 4300 6503 SO:0001583 missense BC011382 CCDS1154.1, CCDS44246.1 1q23.1 2011-01-28 2011-01-28 2011-01-28 ENSG00000143303 ENSG00000143303 24273 protein-coding gene gene with protein product """chromosome 1 open reading frame 66""" C1orf66 10810093, 310876 Standard NM_015997 Approved CGI-41 uc001fpu.3 Q96FB5 OTTHUMG00000041302 ENST00000368216.4:c.734C>T 1.37:g.156703898C>T ENSP00000357199:p.Pro245Leu D3DVC7|Q4VX71|Q5SZ03|Q9Y358 ENST00000368216.4 37 CCDS1154.1 . . . . . . . . . . C 4.524 0.097211 0.08681 . . ENSG00000143303 ENST00000368216;ENST00000519086 T 0.45276 0.9 4.76 4.76 0.60689 . 1.221540 0.05517 N 0.561443 T 0.09862 0.0242 N 0.02973 -0.45 0.27299 N 0.957646 B 0.02656 0.0 B 0.06405 0.002 T 0.16217 -1.0410 10 0.23891 T 0.37 -2.1015 13.1218 0.59331 0.0:1.0:0.0:0.0 . 245 Q96FB5 RRNAD_HUMAN L 245;224 ENSP00000357199:P245L ENSP00000357199:P245L P + 2 0 RRNAD1 154970522 0.000000 0.05858 0.005000 0.12908 0.241000 0.25554 0.750000 0.26334 2.494000 0.84150 0.561000 0.74099 CCG RRNAD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098973.1 49.693684 0 -2 53 0 0 1 0 NM_015997 16 49.967837 23 0.410256 LRP8 7804 broad.mit.edu hg19 1 53742398 53742398 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:53742398G>A ENST00000306052.6 - 5 950 c.849C>T c.(847-849)cgC>cgT p.R283R LRP8_ENST00000354412.3_Intron|LRP8_ENST00000371454.2_Silent_p.R283R|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_Intron NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 283 LDL-receptor class A 6. cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 CTTTGCAGTCGCGGTCGCCGT 0.731 0 8.0 5.0 6.0 1 53742398 1817 3584 5401 SO:0001819 synonymous_variant D50678 CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1 1p32.3 2013-05-29 ENSG00000157193 ENSG00000157193 """Low density lipoprotein receptors""" 6700 protein-coding gene gene with protein product 602600 8626535, 9079678 Standard NM_004631 Approved APOER2, MCI1, LRP-8, HSZ75190 uc001cvi.2 Q14114 OTTHUMG00000008924 ENST00000306052.6:c.849C>T 1.37:g.53742398G>A B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78 ENST00000306052.6 37 CCDS578.1 LRP8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000024699.1 7.676970 0 4 9 0 0 1 0 NM_004631 2 7.453751 0 1.000000 SLC27A6 28965 broad.mit.edu hg19 5 128363005 128363005 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:128363005C>T ENST00000262462.4 + 7 2445 c.1435C>T c.(1435-1437)Cgt>Tgt p.R479C SLC27A6_ENST00000395266.1_Missense_Mutation_p.R479C|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R479C Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 479 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TTTTTGGGACCGTACTGGAGA 0.373 0 116.0 107.0 110.0 5 128363005 2203 4300 6503 SO:0001583 missense AF064254 CCDS4145.1 5q23.3 2013-05-22 ENSG00000113396 ENSG00000113396 """Acyl-CoA synthetase family"", ""Solute carriers""" 11000 protein-coding gene gene with protein product """fatty-acid-Coenzyme A ligase, very long-chain 2""" 604196 12556534, 10479480 Standard XM_005271967 Approved FATP6, VLCS-H1, FACVL2, ACSVL2 uc003kuy.3 Q9Y2P4 OTTHUMG00000128991 ENST00000262462.4:c.1435C>T 5.37:g.128363005C>T ENSP00000262462:p.Arg479Cys Q6IAM5|Q7Z6E6|Q86YF6 ENST00000262462.4 37 CCDS4145.1 . . . . . . . . . . C 16.35 3.097919 0.56075 . . ENSG00000113396 ENST00000262462;ENST00000395266;ENST00000506176 D;D;D 0.83075 -1.68;-1.68;-1.68 4.31 3.44 0.39384 AMP-dependent synthetase/ligase (1); 0.101662 0.64402 D 0.000006 D 0.93314 0.7869 H 0.98466 4.24 0.58432 D 0.999996 D 0.76494 0.999 D 0.74023 0.982 D 0.92912 0.6348 9 . . . 1.3458 7.588 0.28004 0.3234:0.5433:0.1334:0.0 . 479 Q9Y2P4 S27A6_HUMAN C 479 ENSP00000262462:R479C;ENSP00000378684:R479C;ENSP00000421024:R479C . R + 1 0 SLC27A6 128390904 1.000000 0.71417 1.000000 0.80357 0.945000 0.59286 3.096000 0.50243 1.393000 0.46605 0.460000 0.39030 CGT SLC27A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250980.1 5.344801 0 -23 69 0 0 1 0 NM_014031 5 11.576791 38 0.116279 ABCA3 21 broad.mit.edu hg19 16 2373673 2373673 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:2373673C>T ENST00000301732.5 - 7 1164 c.464G>A c.(463-465)cGg>cAg p.R155Q ABCA3_ENST00000382381.3_Missense_Mutation_p.R155Q|ABCA3_ENST00000567910.1_Missense_Mutation_p.R155Q NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 155 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GTAACTGAACCGTAGGTGATA 0.498 1 212.0 237.0 228.0 16 2373673 2198 4300 6498 SO:0001583 missense U78735 CCDS10466.1 16p13.3 2012-03-14 ENSG00000167972 ENSG00000167972 """ATP binding cassette transporters / subfamily A""" 33 protein-coding gene gene with protein product 601615 ABC3 8706931 Standard NM_001089 Approved ABC-C, EST111653, LBM180 uc002cpy.1 Q99758 OTTHUMG00000128845 ENST00000382381.3:c.464G>A 16.37:g.2373673C>T ENSP00000371818:p.Arg155Gln B2RU09|Q54A95|Q6P5P9|Q92473 ENST00000382381.3 37 . . . . . . . . . . C 36 5.693146 0.96793 . . ENSG00000167972 ENST00000301732;ENST00000382381 D 0.97352 -4.35 5.43 5.43 0.79202 . 0.000000 0.85682 D 0.000000 D 0.98972 0.9650 H 0.95294 3.65 0.58432 D 0.999999 D;D;D;D 0.89917 1.0;0.991;1.0;1.0 D;P;D;D 0.97110 1.0;0.782;0.997;1.0 D 0.99395 1.0926 10 0.87932 D 0 . 17.9832 0.89147 0.0:1.0:0.0:0.0 . 155;217;155;155 A7MBM9;Q4LE27;Q6P5P9;Q99758 .;.;.;ABCA3_HUMAN Q 155;217 ENSP00000301732:R155Q ENSP00000301732:R155Q R - 2 0 ABCA3 2313674 1.000000 0.71417 0.994000 0.49952 0.992000 0.81027 6.974000 0.76122 2.824000 0.97209 0.655000 0.94253 CGG ABCA3-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000435440.1 92.829140 0 -44 284 0 0 1 0 NM_001089 45 117.546412 208 0.177866 KIR2DL4 0 broad.mit.edu hg19 19 55316274 55316274 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:55316274G>A ENST00000396284.2 + 3 97 c.97G>A c.(97-99)Gcc>Acc p.A33T KIR2DL4_ENST00000357494.4_Missense_Mutation_p.A35T|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.A35T|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.A35T|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTTCTGCTCTGCCTGGCCCAG 0.567 0 34.0 33.0 33.0 19 55316274 2121 3783 5904 SO:0001583 missense X97229 CCDS42619.1, CCDS42620.1 19q13.4 2013-01-29 ENSG00000189013 """Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6332 protein-coding gene gene with protein product 604945 8946682 Standard NM_001080772 Approved 103AS, 15.212, CD158D Q99706 OTTHUMG00000065880 ENST00000359085.4:c.103G>A 19.37:g.55316274G>A ENSP00000351988:p.Ala35Thr A8W795|O14621|O14622|O14623|O14624|O43534|P78400|P78401|Q8N738|Q99559|Q99560|Q99561|Q99562|Q9UQJ7 ENST00000359085.4 37 CCDS42620.1 . . . . . . . . . . G 13.45 2.239658 0.39598 . . ENSG00000189013 ENST00000396284;ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396289 T;T;T;T;T 0.00864 5.6;5.6;5.6;5.6;5.6 1.42 0.342 0.15996 Immunoglobulin-like fold (1); 0.551703 0.13505 U 0.382927 T 0.04048 0.0113 M 0.83603 2.65 0.09310 N 1 D;D;D;D;D;D 0.89917 0.999;1.0;1.0;1.0;1.0;0.999 D;D;D;D;D;D 0.87578 0.989;0.993;0.992;0.998;0.996;0.993 T 0.32877 -0.9890 10 0.87932 D 0 . 3.5227 0.07748 0.2683:0.0:0.7317:0.0 . 35;33;35;35;35;35 Q99706;E7EST5;Q8N741;Q99706-4;Q99706-2;Q99706-3 KI2L4_HUMAN;.;.;.;.;. T 33;35;35;35;33 ENSP00000379580:A33T;ENSP00000351988:A35T;ENSP00000339634:A35T;ENSP00000350088:A35T;ENSP00000379584:A33T ENSP00000339634:A35T A + 1 0 KIR2DL4 60008086 0.000000 0.05858 0.001000 0.08648 0.103000 0.19146 0.244000 0.18124 0.156000 0.19299 0.205000 0.17691 GCC KIR2DL4-001 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000141136.1 12.330236 0 25 58 0 0 1 0 6 15.257325 26 0.187500 NCKAP5L 57701 broad.mit.edu hg19 12 50188796 50188796 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:50188796C>T ENST00000335999.6 - 8 3048 c.2847G>A c.(2845-2847)ccG>ccA p.P949P NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 945 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CCCTCCGGAGCGGGGAGCCCC 0.652 0 13.0 14.0 14.0 12 50188796 1915 4108 6023 SO:0001819 synonymous_variant AB046822 CCDS41781.2 12q13.12 2009-08-14 2009-08-14 2009-08-14 ENSG00000167566 ENSG00000167566 29321 protein-coding gene gene with protein product 615104 """KIAA1602""" KIAA1602 Standard NM_001037806 Approved uc009zlk.2 Q9HCH0 OTTHUMG00000156969 ENST00000335999.6:c.2847G>A 12.37:g.50188796C>T Q2TB26|Q71RH1|Q8N4W1|Q96HX2 ENST00000335999.6 37 CCDS41781.2 . . . . . . . . . . C 2.115 -0.402750 0.04865 . . ENSG00000167566 ENST00000433948 . . . 5.23 -6.45 0.01914 . . . . . T 0.38719 0.1051 . . . 0.80722 D 1 . . . . . . T 0.41875 -0.9484 4 . . . -18.0814 3.866 0.09016 0.0958:0.4002:0.0947:0.4093 . . . . T 664 . . A - 1 0 NCKAP5L 48475063 0.000000 0.05858 0.810000 0.32431 0.478000 0.33099 -2.900000 0.00704 -1.077000 0.03121 -0.448000 0.05591 GCT NCKAP5L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346884.2 4.310418 0 -11 14 0 0 1 0 XM_035497 3 6.892390 18 0.142857 GIT1 28964 broad.mit.edu hg19 17 27903361 27903361 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:27903361G>A ENST00000225394.3 - 14 1736 c.1488C>T c.(1486-1488)ggC>ggT p.G496G GIT1_ENST00000579937.1_Silent_p.G496G|GIT1_ENST00000394869.3_Silent_p.G505G|GIT1_ENST00000581348.1_Silent_p.G505G|RP11-68I3.2_ENST00000581474.1_RNA NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 496 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GTGTGCTCCCGCCTGGCGCCA 0.677 0 61.0 71.0 68.0 17 27903361 2203 4300 6503 SO:0001819 synonymous_variant AF124490 CCDS11250.1, CCDS42290.1 17p11.2 2013-01-10 2008-09-05 ENSG00000108262 ENSG00000108262 """ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing""" 4272 protein-coding gene gene with protein product 608434 """G protein-coupled receptor kinase interactor 1""" 9826657, 10896954 Standard NM_014030 Approved uc002heg.2 Q9Y2X7 OTTHUMG00000132730 ENST00000394869.3:c.1515C>T 17.37:g.27903361G>A B4DGU9|B4DSV3|Q86SS0|Q9BRJ4 ENST00000394869.3 37 CCDS42290.1 GIT1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256075.1 7.319179 0 -10 100 0 0 1 0 NM_014030 6 14.398425 44 0.120000 ZSCAN10 84891 broad.mit.edu hg19 16 3139813 3139813 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:3139813C>T ENST00000252463.2 - 5 1544 c.1457G>A c.(1456-1458)cGg>cAg p.R486Q ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R404Q|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R147Q NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 486 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GTGCACCCTCCGGTGGGCCAC 0.731 0 6.0 7.0 7.0 16 3139813 2101 4166 6267 SO:0001583 missense AA206569 CCDS10493.1, CCDS61813.1, CCDS61814.1 16p13.3 2013-01-08 2007-02-20 2007-02-20 ENSG00000130182 """-"", ""Zinc fingers, C2H2-type""" 12997 protein-coding gene gene with protein product """zinc finger protein 206""" ZNF206 9653642 Standard NM_032805 Approved uc002ctv.1 Q96SZ4 ENST00000252463.2:c.1457G>A 16.37:g.3139813C>T ENSP00000252463:p.Arg486Gln B3KQD3|H0YFS6|Q1WWM2 ENST00000252463.2 37 CCDS10493.1 . . . . . . . . . . C 1.414 -0.574578 0.03882 . . ENSG00000130182 ENST00000538082;ENST00000252463 T 0.07444 3.19 5.34 -0.863 0.10669 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.824186 0.10424 N 0.676268 T 0.02380 0.0073 N 0.04148 -0.265 0.58432 D 0.999999 B;B;B 0.26120 0.014;0.142;0.03 B;B;B 0.14578 0.009;0.011;0.004 T 0.48043 -0.9069 10 0.02654 T 1 -11.4591 3.7963 0.08740 0.1993:0.2839:0.0:0.5169 . 147;419;486 Q96SZ4-2;Q1WWM2;Q96SZ4 .;.;ZSC10_HUMAN Q 419;486 ENSP00000252463:R486Q ENSP00000252463:R486Q R - 2 0 ZSCAN10 3079814 0.000000 0.05858 0.914000 0.36105 0.946000 0.59487 -2.348000 0.01094 -0.024000 0.13941 -0.253000 0.11424 CGG ZSCAN10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437124.2 9.325414 0 -8 9 0 0 1 0 NM_032805 3 9.369058 2 0.600000 DSCAML1 57453 broad.mit.edu hg19 11 117651409 117651409 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:117651409C>T ENST00000321322.6 - 2 344 c.343G>A c.(343-345)Gcg>Acg p.A115T DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 55 Ig-like C2-type 1.|Ig-like C2-type 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGAAGGGCCGCGCTGGGGGAG 0.657 0 43.0 49.0 47.0 11 117651409 2201 4295 6496 SO:0001583 missense CCDS8384.1 11q22.2-q22.3 2013-02-11 ENSG00000177103 ENSG00000177103 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 14656 protein-coding gene gene with protein product 611782 11453658 Standard NM_020693 Approved KIAA1132 uc001prh.1 Q8TD84 OTTHUMG00000167071 ENST00000321322.6:c.343G>A 11.37:g.117651409C>T ENSP00000315465:p.Ala115Thr Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7 ENST00000321322.6 37 CCDS8384.1 . . . . . . . . . . C 36 5.604637 0.96626 . . ENSG00000177103 ENST00000321322 T 0.39787 1.06 5.1 5.1 0.69264 Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.46483 0.1395 L 0.27053 0.805 0.80722 D 1 D 0.64830 0.994 P 0.53954 0.738 T 0.48375 -0.9041 9 0.59425 D 0.04 . 18.9124 0.92491 0.0:1.0:0.0:0.0 . 55 Q8TD84 DSCL1_HUMAN T 115 ENSP00000315465:A115T ENSP00000315465:A115T A - 1 0 DSCAML1 117156619 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.776000 0.85560 2.536000 0.85505 0.563000 0.77884 GCG DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392907.2 81.453087 0 7 66 0 0 1 0 NM_020693 26 81.470653 24 0.520000 ZHX3 23051 broad.mit.edu hg19 20 39831218 39831218 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:39831218C>T ENST00000309060.3 - 4 2754 c.2339G>A c.(2338-2340)cGg>cAg p.R780Q ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000544979.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000559234.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000560361.1_Missense_Mutation_p.R780Q Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 780 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AAAGAGCTGCCGCAGCAAGTG 0.587 0 77.0 82.0 80.0 20 39831218 2203 4300 6503 SO:0001583 missense AB007855 CCDS13315.1 20q12 2012-03-09 2004-01-29 2004-01-30 ENSG00000174306 ENSG00000174306 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 15935 protein-coding gene gene with protein product 609598 """triple homeobox 1""" TIX1 9455477 Standard XM_005260343 Approved KIAA0395 uc002xjs.1 Q9H4I2 OTTHUMG00000032481 ENST00000309060.3:c.2339G>A 20.37:g.39831218C>T ENSP00000312222:p.Arg780Gln E1P5W5|F5H820|O43145|Q6NUJ7 ENST00000309060.3 37 CCDS13315.1 . . . . . . . . . . C 19.24 3.788874 0.70337 2.27E-4 0.0 ENSG00000174306 ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262 D;D;D 0.91686 -2.89;-2.89;-2.89 6.07 6.07 0.98685 Homeodomain-related (1);Homeobox (2);Homeodomain-like (1); 0.051068 0.64402 D 0.000001 D 0.92479 0.7612 M 0.70275 2.135 0.47153 D 0.999331 P;D;D 0.60575 0.919;0.963;0.988 B;P;P 0.51999 0.407;0.489;0.687 D 0.91027 0.4861 10 0.42905 T 0.14 -26.6728 7.9852 0.30207 0.0:0.8162:0.0:0.1838 . 780;780;780 A8K8Q0;Q9H4I2;F5H820 .;ZHX3_HUMAN;. Q 780;780;780;780;558 ENSP00000362360:R780Q;ENSP00000442290:R780Q;ENSP00000443783:R780Q ENSP00000312222:R780Q R - 2 0 ZHX3 39264632 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 4.085000 0.57657 2.884000 0.98904 0.655000 0.94253 CGG ZHX3-010 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079262.3 2.862408 0 -3 123 0 0 1 0 NM_015035 7 17.155861 75 0.085366 DCDC1 100506627 hgsc.bcm.edu hg19 11 30938461 30938461 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 C C . . . . Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe GCCCTTTTTCCGTTTTCTTTG 0.413 0 143.0 142.0 142.0 11 30938461 2202 4299 6501 SO:0001819 synonymous_variant AY247970 CCDS7872.1 11p14.1 2013-05-22 ENSG00000170959 ENSG00000170959 20625 protein-coding gene gene with protein product 608062 12820024 Standard NM_181807 Approved uc001msv.3 P59894 OTTHUMG00000150144 ENST00000597505.1:c.3408G>A 11.37:g.30938461C>T A6PVL6|B7WNX6|Q6ZU04 ENST00000597505.1 37 DCDC1-010 PUTATIVE basic protein_coding protein_coding OTTHUMT00000463167.1 9 51 NM_181807 8 24 SYTL3 94120 broad.mit.edu hg19 6 159181683 159181683 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:159181683C>T ENST00000297239.9 + 14 1514 c.1320C>T c.(1318-1320)taC>taT p.Y440Y SYTL3_ENST00000360448.3_Silent_p.Y372Y|SYTL3_ENST00000367081.3_Silent_p.Y166Y Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 440 intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) CGGAGAAATACGAAGACAGCG 0.547 0 114.0 106.0 109.0 6 159181683 2203 4300 6503 SO:0001819 synonymous_variant AK055750 CCDS34563.1, CCDS56458.1 6q25.3 2008-07-04 ENSG00000164674 ENSG00000164674 15587 protein-coding gene gene with protein product 11773082 Standard NM_001242384 Approved SLP3, exophilin-6 uc003qrp.3 Q4VX76 OTTHUMG00000015916 ENST00000297239.9:c.1320C>T 6.37:g.159181683C>T Q496J4|Q496J6|Q5U3B9 ENST00000297239.9 37 CCDS56458.1 SYTL3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042876.1 50.690701 0 -17 100 0 0 1 0 19 54.832200 56 0.253333 STON1 11037 broad.mit.edu hg19 2 48809431 48809431 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:48809431G>A ENST00000309835.3 + 1 1669 c.1659G>A c.(1657-1659)gcG>gcA p.A553A STON1-GTF2A1L_ENST00000309827.2_Silent_p.A553A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A553A|STON1_ENST00000404752.1_Silent_p.A553A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A553A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A553A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A553A|STON1_ENST00000406226.1_Silent_p.A553A stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCTCATTGGCGCAGAGGTCAT 0.478 2 148.0 146.0 146.0 2 48809431 2203 4300 6503 SO:0001819 synonymous_variant AF026169 CCDS1841.1 2p16.3 2008-02-05 ENSG00000243244 ENSG00000243244 17003 protein-coding gene gene with protein product """stoned B homolog 1 (Drosophila)""" 605357 14504226, 10364255 Standard NM_001198595 Approved SBLF, stoned-b1 Q9Y6Q2 OTTHUMG00000129169 ENST00000406226.1:c.1659G>A 2.37:g.48809431G>A A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3 ENST00000406226.1 37 CCDS1841.1 STON1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323848.2 91.037351 0 -23 90 0 0 1 0 NM_006873 30 91.121560 35 0.461538 FXR2 9513 broad.mit.edu hg19 17 7499190 7499190 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:7499190G>A ENST00000250113.7 - 8 1117 c.783C>T c.(781-783)acC>acT p.T261T NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 261 KH 1. cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACTCAATGGCGGTCACCCCAG 0.547 0 87.0 87.0 87.0 17 7499190 1980 4161 6141 SO:0001819 synonymous_variant U31501 CCDS45604.1 17p13.3 2014-09-17 ENSG00000129245 4024 protein-coding gene gene with protein product 605339 FMR1L2 7489725, 9259278 Standard NM_004860 Approved uc002gia.2 P51116 ENST00000250113.7:c.783C>T 17.37:g.7499190G>A B2R9M2|D3DTQ1|Q86V09|Q8WUM2 ENST00000250113.7 37 CCDS45604.1 FXR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000441084.1 19.145113 0 -30 57 0 0 1 0 9 24.174684 42 0.176471 KIR2DL1 3802 broad.mit.edu hg19 19 55284980 55284980 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:55284980G>A ENST00000336077.6 + 3 306 c.266G>A c.(265-267)cGc>cAc p.R89H KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 89 Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TCCATCAGTCGCATGACGCAA 0.537 1 254.0 223.0 233.0 19 55284980 2178 4210 6388 SO:0001583 missense L41267 CCDS12904.1 19q13.4 2013-01-29 ENSG00000125498 ENSG00000125498 """Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6329 protein-coding gene gene with protein product 604936 7749980, 7716543 Standard NM_014218 Approved cl-42, nkat1, 47.11, p58.1, CD158A uc002qhb.1 P43626 OTTHUMG00000065885 ENST00000336077.6:c.266G>A 19.37:g.55284980G>A ENSP00000336769:p.Arg89His O43470|Q32WE6|Q6IST4 ENST00000336077.6 37 CCDS12904.1 . . . . . . . . . . a 7.047 0.563636 0.13498 . . ENSG00000125498 ENST00000336077;ENST00000291633 T;T 0.23147 1.92;1.92 1.24 0.114 0.14639 . . . . . T 0.12263 0.0298 N 0.11756 0.17 0.09310 N 1 B;B 0.06786 0.0;0.001 B;B 0.06405 0.0;0.002 T 0.25187 -1.0139 9 0.66056 D 0.02 . 3.5284 0.07768 0.2873:0.4304:0.2823:0.0 . 89;89 Q6IST4;Q6H2H3 .;. H 89 ENSP00000336769:R89H;ENSP00000291633:R89H ENSP00000291633:R89H R + 2 0 KIR2DL1 59976792 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 0.081000 0.14823 -0.274000 0.09232 -2.943000 0.00086 CGC KIR2DL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000141148.2 72.348324 0 83 239 0 0 1 0 31 85.111598 123 0.201299 KIF4B 285643 broad.mit.edu hg19 5 154395374 154395374 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:154395374G>A ENST00000435029.4 + 1 2115 c.1955G>A c.(1954-1956)cGt>cAt p.R652H NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 652 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGTTAATGCGTCAAATGAAA 0.408 2 157.0 156.0 156.0 5 154395374 2203 4300 6503 SO:0001583 missense AF241316 CCDS47324.1 5q33.2 2010-06-22 ENSG00000226650 ENSG00000226650 """Kinesins""" 6322 protein-coding gene gene with protein product 609184 Standard NM_001099293 Approved uc010jih.1 Q2VIQ3 OTTHUMG00000164143 ENST00000435029.4:c.1955G>A 5.37:g.154395374G>A ENSP00000387875:p.Arg652His ENST00000435029.4 37 CCDS47324.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 g 12.12 1.842099 0.32513 . . ENSG00000226650 ENST00000435029 T 0.18174 2.23 2.54 0.587 0.17439 . . . . . T 0.12178 0.0296 L 0.47716 1.5 0.48236 D 0.999614 B 0.31256 0.316 B 0.24269 0.052 T 0.09164 -1.0687 9 0.59425 D 0.04 . 5.0708 0.14606 0.3293:0.0:0.6707:0.0 . 652 Q2VIQ3 KIF4B_HUMAN H 652 ENSP00000387875:R652H ENSP00000387875:R652H R + 2 0 KIF4B 154375567 1.000000 0.71417 0.985000 0.45067 0.996000 0.88848 4.427000 0.59888 -0.177000 0.10690 0.563000 0.77884 CGT KIF4B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377478.1 -2.954351 0 -25 117 0 0 1 0 7 15.595008 91 0.071429 LRRC8A 56262 broad.mit.edu hg19 9 131670589 131670589 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:131670589C>T ENST00000259324.5 + 3 1669 c.1146C>T c.(1144-1146)taC>taT p.Y382Y LRRC8A_ENST00000372599.3_Silent_p.Y382Y|LRRC8A_ENST00000372600.4_Silent_p.Y382Y NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 382 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TTGACCAATACGACCCGCTCT 0.562 0 132.0 112.0 119.0 9 131670589 2203 4300 6503 SO:0001819 synonymous_variant AB037858 CCDS35155.1 9q34.2 2014-09-17 2005-06-29 2005-06-29 ENSG00000136802 ENSG00000136802 19027 protein-coding gene gene with protein product 608360 """leucine rich repeat containing 8""" LRRC8 Standard NM_001127244 Approved KIAA1437, FLJ10337 uc010myp.3 Q8IWT6 OTTHUMG00000020766 ENST00000259324.5:c.1146C>T 9.37:g.131670589C>T Q6UXM2|Q8NCI0|Q9P2B1 ENST00000259324.5 37 CCDS35155.1 LRRC8A-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054516.2 56.982212 0 -21 72 0 0 1 0 NM_019594 20 58.457144 40 0.333333 MLST8 64223 broad.mit.edu hg19 16 2258519 2258519 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:2258519C>T ENST00000569417.1 + 8 1121 c.767C>T c.(766-768)aCg>aTg p.T256M MLST8_ENST00000565250.1_Missense_Mutation_p.T256M|MLST8_ENST00000382450.4_Missense_Mutation_p.T255M|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.T256M|MLST8_ENST00000397124.1_Missense_Mutation_p.T256M|MLST8_ENST00000301724.10_Missense_Mutation_p.T256M NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 256 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 TCCCTGATGACGGAGCTGAGC 0.647 0 70.0 85.0 80.0 16 2258519 2129 4239 6368 SO:0001583 missense CCDS10462.2, CCDS58409.1 16p13.3 2013-01-09 ENSG00000167965 ENSG00000167965 """WD repeat domain containing""" 24825 protein-coding gene gene with protein product """G protein beta subunit like""" 612190 12477932 Standard NM_022372 Approved Lst8, Pop3, GBL, GbetaL uc002cpc.3 Q9BVC4 OTTHUMG00000128827 ENST00000569417.1:c.767C>T 16.37:g.2258519C>T ENSP00000456405:p.Thr256Met B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6 ENST00000569417.1 37 CCDS10462.2 . . . . . . . . . . C 18.22 3.576300 0.65878 . . ENSG00000167965 ENST00000382450;ENST00000301724;ENST00000397124 T;T 0.40225 1.57;1.04 4.83 4.83 0.62350 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.30448 0.0765 L 0.31120 0.905 0.80722 D 1 P;P 0.43094 0.799;0.783 B;B 0.33890 0.172;0.115 T 0.20840 -1.0263 10 0.51188 T 0.08 -16.3781 16.4983 0.84251 0.0:1.0:0.0:0.0 . 190;256 Q9BVC4-3;Q9BVC4 .;LST8_HUMAN M 256 ENSP00000301724:T256M;ENSP00000380313:T256M ENSP00000301724:T256M T + 2 0 MLST8 2198520 1.000000 0.71417 0.967000 0.41034 0.899000 0.52679 7.766000 0.85320 2.235000 0.73313 0.313000 0.20887 ACG MLST8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000250763.2 -5.292687 0 -13 151 0 0 1 0 NM_022372 5 11.211553 77 0.060976 MATK 4145 broad.mit.edu hg19 19 3778526 3778526 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:3778526C>T ENST00000310132.6 - 13 1663 c.1265G>A c.(1264-1266)cGg>cAg p.R422Q MATK_ENST00000395045.2_Missense_Mutation_p.R423Q|MATK_ENST00000585778.1_Missense_Mutation_p.R421Q|MATK_ENST00000395040.2_Missense_Mutation_p.R381Q NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 422 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GTACGGAGCCCGTCCATATGA 0.647 0 55.0 59.0 58.0 19 3778526 2203 4299 6502 SO:0001583 missense L18974 CCDS12113.1, CCDS12114.1, CCDS42468.1 19p13.3 2013-02-14 """SH2 domain containing""" 6906 protein-coding gene gene with protein product """Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related""" 600038 8288563, 7530249 Standard NM_139355 Approved HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101 uc002lyt.3 P42679 ENST00000395045.2:c.1268G>A 19.37:g.3778526C>T ENSP00000378485:p.Arg423Gln B3KNZ9|Q9NST8 ENST00000395045.2 37 CCDS12113.1 . . . . . . . . . . C 21.9 4.221554 0.79464 . . ENSG00000007264 ENST00000395045;ENST00000310132;ENST00000395040 D;D;D 0.82255 -1.59;-1.59;-1.59 3.74 3.74 0.42951 Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.079304 0.51477 D 0.000084 T 0.81669 0.4871 N 0.05510 -0.035 0.48830 D 0.999713 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.79108 0.992;0.992;0.992 D 0.86103 0.1557 10 0.87932 D 0 -28.0087 14.7571 0.69572 0.0:1.0:0.0:0.0 . 422;423;422 F1T0G6;B3KNZ9;P42679 .;.;MATK_HUMAN Q 423;422;381 ENSP00000378485:R423Q;ENSP00000308734:R422Q;ENSP00000378481:R381Q ENSP00000308734:R422Q R - 2 0 MATK 3729526 1.000000 0.71417 0.906000 0.35671 0.542000 0.35054 4.592000 0.61027 1.944000 0.56390 0.543000 0.68304 CGG MATK-001 KNOWN upstream_uORF|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000453641.2 17.145791 0 1 24 0 0 1 0 NM_139355 6 17.365341 10 0.375000 ELOVL2 54898 broad.mit.edu hg19 6 10990061 10990061 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:10990061C>T ENST00000354666.3 - 7 723 c.640G>A c.(640-642)Gtg>Atg p.V214M NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 214 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) ATGGTGAGCACGAACTGCACC 0.542 0 90.0 77.0 82.0 6 10990061 2203 4300 6503 SO:0001583 missense AK000341 CCDS4518.1 6p24.1 2011-05-25 2011-05-25 ENSG00000197977 ENSG00000197977 14416 protein-coding gene gene with protein product 611814 """elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2""" 12371743, 16564093 Standard NM_017770 Approved Ssc2 uc003mzp.4 Q9NXB9 OTTHUMG00000014252 ENST00000354666.3:c.640G>A 6.37:g.10990061C>T ENSP00000346693:p.Val214Met Q6P9E1|Q86W94 ENST00000354666.3 37 CCDS4518.1 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 C 16.46 3.130076 0.56721 . . ENSG00000197977 ENST00000354666 T 0.26660 1.72 5.81 -0.939 0.10408 . 0.741921 0.12335 N 0.478022 T 0.32224 0.0822 M 0.76727 2.345 0.22719 N 0.998812 P 0.46706 0.883 P 0.51016 0.656 T 0.57106 -0.7868 10 0.66056 D 0.02 -0.011 24.2674 0.99989 0.0:0.261:0.739:0.0 . 214 Q9NXB9 ELOV2_HUMAN M 214 ENSP00000346693:V214M ENSP00000346693:V214M V - 1 0 ELOVL2 11098047 0.000000 0.05858 0.418000 0.26571 0.910000 0.53928 -0.857000 0.04286 -0.168000 0.10853 0.655000 0.94253 GTG ELOVL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039849.1 12.732002 0 2 53 0 0 1 0 6 15.449361 25 0.193548 ASMTL 8623 broad.mit.edu hg19 X 1546804 1546804 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:1546804G>A ENST00000534940.1 - 7 771 c.546C>T c.(544-546)gaC>gaT p.D182D ASMTL_ENST00000381333.4_Silent_p.D224D|ASMTL_ENST00000381317.3_Silent_p.D240D|ASMTL_ENST00000416733.2_Silent_p.D164D|ASMTL_ENST00000463763.1_5'UTR NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 240 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCCCCTCCACGTCACTGAGGT 0.697 0 47.0 60.0 56.0 X 1546804 2016 4131 6147 SO:0001819 synonymous_variant Y15521 CCDS43917.1, CCDS55362.1, CCDS55363.1 Xp22.3 and Yp11.3 2008-02-05 ENSG00000169093 ENSG00000169093 """Pseudoautosomal regions / PAR1""" 751 protein-coding gene gene with protein product 300162, 400011 9736779 Standard NM_004192 Approved uc004cpx.2 O95671 OTTHUMG00000021057 ENST00000381317.3:c.720C>T X.37:g.1546804G>A B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6 ENST00000381317.3 37 CCDS43917.1 ASMTL-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055595.1 -3.515046 0 -34 42 0 0 1 0 NM_004192 3 6.605552 47 0.060000 B4GALNT2 124872 broad.mit.edu hg19 17 47233948 47233948 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:47233948G>A ENST00000300404.2 + 5 720 c.661G>A c.(661-663)Gat>Aat p.D221N B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D161N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D135N NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 221 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TGAAGGACCCGATGCCCCCGT 0.562 0 174.0 156.0 162.0 17 47233948 2203 4300 6503 SO:0001583 missense AJ517770 CCDS11544.1, CCDS54139.1, CCDS54140.1 17q21.33 2013-02-22 2006-01-08 2006-01-08 ENSG00000167080 ENSG00000167080 """Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing""" 24136 protein-coding gene gene with protein product 111730 """UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase""" GALGT2 8782649, 12678917 Standard NM_153446 Approved Sda, Cad uc002ion.2 Q8NHY0 OTTHUMG00000161307 ENST00000393354.2:c.481G>A 17.37:g.47233948G>A ENSP00000377022:p.Asp161Asn B4DZE4|Q14CP1|Q86Y40 ENST00000393354.2 37 CCDS54139.1 . . . . . . . . . . G 4.019 0.001034 0.07819 . . ENSG00000167080 ENST00000504681;ENST00000393354;ENST00000300404 T;T;T 0.30182 1.54;1.54;1.54 3.68 0.539 0.17156 . 1.417150 0.04375 N 0.359868 T 0.24353 0.0590 L 0.43152 1.355 0.09310 N 1 B;B 0.21688 0.014;0.059 B;B 0.11329 0.003;0.006 T 0.18116 -1.0347 10 0.29301 T 0.29 -1.2571 3.9275 0.09270 0.2324:0.2195:0.5481:0.0 . 161;221 Q8NHY0-2;Q8NHY0 .;B4GN2_HUMAN N 135;161;221 ENSP00000425510:D135N;ENSP00000377022:D161N;ENSP00000300404:D221N ENSP00000300404:D221N D + 1 0 B4GALNT2 44588947 0.004000 0.15560 0.060000 0.19600 0.017000 0.09413 0.311000 0.19380 0.165000 0.19558 -0.251000 0.11542 GAT B4GALNT2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364478.1 114.930334 0 -21 101 0 0 1 0 NM_153446 35 115.014056 30 0.538462 PLA2G6 8398 broad.mit.edu hg19 22 38539156 38539156 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:38539156C>T ENST00000332509.3 - 4 748 c.565G>A c.(565-567)Gtc>Atc p.V189I PLA2G6_ENST00000335539.3_Missense_Mutation_p.V189I|PLA2G6_ENST00000436218.1_Intron|PLA2G6_ENST00000402064.1_Missense_Mutation_p.V189I NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 189 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) TAATGGAAGACGGTCTCTCCC 0.597 0 338.0 287.0 304.0 22 38539156 2203 4300 6503 SO:0001583 missense AF064594 CCDS13967.1, CCDS33645.1 22q13.1 2013-01-10 ENSG00000184381 ENSG00000184381 """Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing""" 9039 protein-coding gene gene with protein product """neurodegeneration with brain iron accumulation 2""" 603604 9417066, 16799181, 19029121 Standard NM_001199562 Approved iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2 uc003aux.1 O60733 OTTHUMG00000151246 ENST00000332509.3:c.565G>A 22.37:g.38539156C>T ENSP00000333142:p.Val189Ile A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671 ENST00000332509.3 37 CCDS13967.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 13.03|13.03 2.116404|2.116404 0.37339|0.37339 .|. .|. ENSG00000184381|ENSG00000184381 ENST00000427114|ENST00000332509;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000430886 .|T;T;T;T .|0.64438 .|-0.1;-0.1;-0.1;-0.1 6.03|6.03 6.03|6.03 0.97812|0.97812 .|Ankyrin repeat-containing domain (3); .|0.301152 .|0.38959 .|N .|0.001506 T|T 0.44307|0.44307 0.1287|0.1287 N|N 0.11560|0.11560 0.145|0.145 0.80722|0.80722 D|D 1|1 .|B;B .|0.30526 .|0.283;0.03 .|B;B .|0.21917 .|0.035;0.037 T|T 0.35475|0.35475 -0.9787|-0.9787 5|10 .|0.29301 .|T .|0.29 -14.6809|-14.6809 18.7374|18.7374 0.91761|0.91761 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|189;189 .|O60733-2;O60733 .|.;PA2G6_HUMAN H|I 56|189;189;189;117;189;117 .|ENSP00000333142:V189I;ENSP00000335149:V189I;ENSP00000386100:V189I;ENSP00000395464:V117I .|ENSP00000333142:V189I R|V -|- 2|1 0|0 PLA2G6|PLA2G6 36869102|36869102 1.000000|1.000000 0.71417|0.71417 0.929000|0.929000 0.37066|0.37066 0.772000|0.772000 0.43724|0.43724 4.365000|4.365000 0.59486|0.59486 2.861000|2.861000 0.98227|0.98227 0.655000|0.655000 0.94253|0.94253 CGT|GTC PLA2G6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321860.1 130.395707 0 -5 285 0 0 1 0 NM_001004426 50 140.356003 142 0.260417 TNS3 64759 broad.mit.edu hg19 7 47408251 47408251 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:47408251C>T ENST00000398879.1 - 17 2358 c.1992G>A c.(1990-1992)gcG>gcA p.A664A TNS3_ENST00000311160.9_Silent_p.A664A|TNS3_ENST00000355730.3_Silent_p.A424A Q68CZ2 TENS3_HUMAN tensin 3 664 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TGGGTTTGAACGCTTTGCTGG 0.647 0 112.0 129.0 123.0 7 47408251 2077 4207 6284 SO:0001819 synonymous_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 """SH2 domain containing""" 21616 protein-coding gene gene with protein product """tumor endothelial marker 6""" 606825 """tensin-like SH2 domain-containing 1""" TENS1 11559528 Standard NM_022748 Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.1992G>A 7.37:g.47408251C>T B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 ENST00000398879.1 37 CCDS5506.2 TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157253.1 55.166091 0 -34 180 0 0 1 0 NM_022748 26 69.622395 121 0.176871 RBM22 55696 broad.mit.edu hg19 5 150075212 150075212 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:150075212C>T ENST00000199814.4 - 7 723 c.602G>A c.(601-603)cGt>cAt p.R201H RBM22_ENST00000540000.1_Missense_Mutation_p.R152H|RBM22_ENST00000447771.2_Missense_Mutation_p.R152H NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 201 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGTAATAACGGTCTTTAAT 0.433 1 95.0 90.0 91.0 5 150075212 2203 4300 6503 SO:0001583 missense AL136933 CCDS34278.1 5q33.1 2013-02-12 ENSG00000086589 ENSG00000086589 """Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing""" 25503 protein-coding gene gene with protein product """functional spliceosome-associated protein 47""" 612430 20013661, 19133299 Standard NM_018047 Approved FLJ10290, ZC3H16, fSAP47, Cwc2 uc031slu.1 Q9NW64 OTTHUMG00000163589 ENST00000199814.4:c.602G>A 5.37:g.150075212C>T ENSP00000199814:p.Arg201His A6NDM5|B4DLI9|O95607 ENST00000199814.4 37 CCDS34278.1 . . . . . . . . . . C 17.72 3.460270 0.63401 . . ENSG00000086589 ENST00000199814;ENST00000540000;ENST00000447771 T;T;T 0.06528 3.29;3.29;3.29 5.61 4.75 0.60458 . 0.115109 0.64402 D 0.000010 T 0.31544 0.0800 M 0.90759 3.145 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.32693 -0.9897 10 0.72032 D 0.01 -1.7723 14.5396 0.67984 0.0:0.9294:0.0:0.0706 . 201 Q9NW64 RBM22_HUMAN H 201;152;152 ENSP00000199814:R201H;ENSP00000441594:R152H;ENSP00000412118:R152H ENSP00000199814:R201H R - 2 0 RBM22 150055405 1.000000 0.71417 0.990000 0.47175 0.013000 0.08279 7.729000 0.84864 1.374000 0.46228 -0.140000 0.14226 CGT RBM22-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374431.2 116.396595 0 -26 143 0 0 1 0 NM_018047 39 117.824137 65 0.375000 NGFR 4804 broad.mit.edu hg19 17 47590285 47590285 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:47590285G>A ENST00000172229.3 + 6 1323 c.1198G>A c.(1198-1200)Gcc>Acc p.A400T RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A306T NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 400 Death. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CACACTGGACGCCCTCCTGGC 0.682 1 20.0 21.0 21.0 17 47590285 2201 4297 6498 SO:0001583 missense M14764 CCDS11549.1 17q21-q22 2013-05-22 2010-04-28 ENSG00000064300 ENSG00000064300 """Tumor necrosis factor receptor superfamily"", ""CD molecules""" 7809 protein-coding gene gene with protein product """low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16""" 162010 """nerve growth factor receptor (TNFR superfamily, member 16)""" 3022937, 3006050 Standard NM_002507 Approved TNFRSF16, CD271, p75NTR uc002ioz.4 P08138 OTTHUMG00000161495 ENST00000172229.3:c.1198G>A 17.37:g.47590285G>A ENSP00000172229:p.Ala400Thr B2R961|B4E096 ENST00000172229.3 37 CCDS11549.1 . . . . . . . . . . G 14.76 2.630411 0.46944 . . ENSG00000064300 ENST00000172229;ENST00000504201 D;D 0.85339 -1.97;-1.97 4.55 3.56 0.40772 Death (3);DEATH-like (2); 0.684942 0.13412 N 0.389821 T 0.75206 0.3818 L 0.44542 1.39 0.35899 D 0.830258 P 0.43662 0.814 B 0.32022 0.139 T 0.73748 -0.3885 10 0.21540 T 0.41 -17.3422 11.0572 0.47925 0.097:0.0:0.903:0.0 . 400 P08138 TNR16_HUMAN T 400;306 ENSP00000172229:A400T;ENSP00000421731:A306T ENSP00000172229:A400T A + 1 0 NGFR 44945284 0.997000 0.39634 0.974000 0.42286 0.979000 0.70002 2.515000 0.45512 0.991000 0.38814 0.561000 0.74099 GCC NGFR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000365150.1 19.324203 0 -5 19 0 0 1 0 7 19.338473 8 0.466667 AGAP1 116987 broad.mit.edu hg19 2 236659132 236659132 + Splice_Site SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:236659132G>A ENST00000304032.8 + 6 1253 c.673G>A c.(673-675)Gtt>Att p.V225I AGAP1_ENST00000409538.1_Splice_Site_p.V490I|AGAP1_ENST00000428334.2_Splice_Site_p.V64I|AGAP1_ENST00000336665.5_Splice_Site_p.V225I|AGAP1_ENST00000409457.1_Splice_Site_p.V225I NM_001037131.2 NP_001032208.1 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CTTCCAGGACGGTAAATGCGC 0.542 0 187.0 158.0 168.0 2 236659132 2203 4300 6503 SO:0001630 splice_region_variant AF413078 CCDS2514.1, CCDS33408.1, CCDS58756.1 2q37 2013-01-10 2008-09-22 2008-09-22 ENSG00000157985 ENSG00000157985 """ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing""" 16922 protein-coding gene gene with protein product 608651 """centaurin, gamma 2""" CENTG2 Standard NM_001037131 Approved KIAA1099, GGAP1 uc002vvs.3 Q9UPQ3 OTTHUMG00000133293 ENST00000336665.5:c.673+1G>A 2.37:g.236659132G>A B2RTX7|Q541S5|Q6P9D7|Q9NV93 ENST00000336665.5 37 CCDS2514.1 . . . . . . . . . . G 24.2 4.507040 0.85282 . . ENSG00000157985 ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334 T;T;T;T;T 0.18810 2.19;2.19;2.19;2.19;2.19 5.16 5.16 0.70880 . 0.000000 0.64402 D 0.000001 T 0.39091 0.1065 L 0.51422 1.61 0.80722 D 1 D;D 0.60160 0.969;0.987 P;P 0.61658 0.595;0.892 T 0.02526 -1.1146 10 0.34782 T 0.22 . 19.0122 0.92877 0.0:0.0:1.0:0.0 . 225;225 Q9UPQ3-2;Q9UPQ3 .;AGAP1_HUMAN I 225;225;225;490;64 ENSP00000387174:V225I;ENSP00000307634:V225I;ENSP00000338378:V225I;ENSP00000386897:V490I;ENSP00000411824:V64I ENSP00000307634:V225I V + 1 0 AGAP1 236323871 1.000000 0.71417 1.000000 0.80357 0.885000 0.51271 9.548000 0.98103 2.581000 0.87130 0.561000 0.74099 GTT AGAP1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257077.1 35.584281 0 -25 87 0 0 1 0 NM_014914 15 41.657676 59 0.202703 TNNT3 7140 broad.mit.edu hg19 11 1950366 1950366 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:1950366C>T ENST00000278317.6 + 7 318 c.99C>T c.(97-99)gaC>gaT p.D33D TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000397301.1_Silent_p.D44D|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381548.3_Silent_p.D35D|TNNT3_ENST00000381558.1_Intron NM_006757.3 NP_006748.1 P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 44 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) CAGAGGAGGACGCGGAAGGTA 0.667 0 99.0 103.0 102.0 11 1950366 2202 4299 6501 SO:0001819 synonymous_variant M21984 CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1 11p15.5 2014-09-17 2005-09-12 ENSG00000130595 ENSG00000130595 11950 protein-coding gene gene with protein product """troponin-T3, skeletal, fast""" 600692 """troponin T3, skeletal, fast""" 8172653 Standard NM_001042782 Approved AMCD2B, DA2B, FSSV, DKFZp779M2348 uc001lup.4 P45378 OTTHUMG00000012475 ENST00000278317.6:c.99C>T 11.37:g.1950366C>T A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6 ENST00000278317.6 37 CCDS7727.1 TNNT3-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000034756.4 26.570240 0 -18 123 0 0 1 0 NM_006757 12 30.988171 45 0.210526 ZMAT5 55954 broad.mit.edu hg19 22 30134421 30134421 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:30134421C>T ENST00000397781.3 - 6 531 c.281G>A c.(280-282)cGa>cAa p.R94Q ZMAT5_ENST00000344318.3_Missense_Mutation_p.R94Q NM_019103.2 NP_061976.1 Q9UDW3 ZMAT5_HUMAN zinc finger, matrin-type 5 94 mRNA processing cytoplasm|U12-type spliceosomal complex nucleic acid binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574) CTCCCTGGCTCGCCTCTCCTC 0.612 0 48.0 44.0 45.0 22 30134421 2203 4300 6503 SO:0001583 missense CCDS13868.1 22q12.2 2013-09-20 2010-09-15 ENSG00000100319 ENSG00000100319 """Zinc fingers, matrin-type""" 28046 protein-coding gene gene with protein product """U11/U12 snRNP 20K""" 9847074 Standard NM_019103 Approved SNRNP20 uc003agn.3 Q9UDW3 OTTHUMG00000151292 ENST00000344318.3:c.281G>A 22.37:g.30134421C>T ENSP00000344241:p.Arg94Gln A8K9F6 ENST00000344318.3 37 CCDS13868.1 . . . . . . . . . . C 13.49 2.251849 0.39797 . . ENSG00000100319 ENST00000344318;ENST00000397781 . . . 5.14 2.94 0.34122 . 0.112278 0.64402 D 0.000015 T 0.39545 0.1082 M 0.65498 2.005 0.44227 D 0.997061 P 0.39737 0.685 B 0.24541 0.054 T 0.32188 -0.9916 9 0.27785 T 0.31 -35.6225 8.5325 0.33344 0.1618:0.7525:0.0:0.0856 . 94 Q9UDW3 ZMAT5_HUMAN Q 94 . ENSP00000344241:R94Q R - 2 0 ZMAT5 28464421 1.000000 0.71417 1.000000 0.80357 0.604000 0.37047 3.140000 0.50585 1.401000 0.46761 0.603000 0.83216 CGA ZMAT5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322114.1 11.163508 0 -7 44 0 0 1 0 NM_019103 5 12.665866 17 0.227273 ERC1 23085 broad.mit.edu hg19 12 1137128 1137128 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:1137128G>A ENST00000397203.2 + 2 465 c.59G>A c.(58-60)cGt>cAt p.R20H ERC1_ENST00000360905.4_Missense_Mutation_p.R20H|ERC1_ENST00000589028.1_Missense_Mutation_p.R20H|ERC1_ENST00000355446.5_Missense_Mutation_p.R20H|ERC1_ENST00000543086.3_Missense_Mutation_p.R20H|ERC1_ENST00000546231.2_Missense_Mutation_p.R20H Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 20 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AGCCCTGGGCGTTCACCCAGG 0.582 0 101.0 100.0 101.0 12 1137128 2203 4300 6503 SO:0001583 missense AB015617 CCDS8508.1, CCDS53732.1 12p13.3 2008-02-05 2006-08-14 2006-08-14 ENSG00000082805 ENSG00000082805 17072 protein-coding gene gene with protein product 607127 """RAB6 interacting protein 2""" RAB6IP2 10697956, 11929610 Standard NM_178040 Approved ELKS, KIAA1081, CAST2, MGC12974 uc001qjb.2 Q8IUD2 OTTHUMG00000130138 ENST00000397203.2:c.59G>A 12.37:g.1137128G>A ENSP00000380386:p.Arg20His A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1 ENST00000397203.2 37 CCDS8508.1 . . . . . . . . . . G 23.1 4.375417 0.82682 . . ENSG00000082805 ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394 D;D;D;D;D;D;D;D;D 0.88509 -2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39 5.61 5.61 0.85477 . 0.000000 0.85682 D 0.000000 D 0.91935 0.7446 L 0.34521 1.04 0.80722 D 1 D;D;D 0.76494 0.999;0.999;0.999 D;D;D 0.80764 0.994;0.994;0.984 D 0.92721 0.6191 10 0.87932 D 0 -9.6219 19.6214 0.95658 0.0:0.0:1.0:0.0 . 20;20;20 Q8IUD2-2;Q8IUD2-3;Q8IUD2 .;.;RB6I2_HUMAN H 20 ENSP00000340054:R20H;ENSP00000380386:R20H;ENSP00000438546:R20H;ENSP00000445336:R20H;ENSP00000442976:R20H;ENSP00000442739:R20H;ENSP00000347621:R20H;ENSP00000354158:R20H;ENSP00000410064:R20H ENSP00000299183:R20H R + 2 0 ERC1 1007389 1.000000 0.71417 0.998000 0.56505 0.945000 0.59286 9.782000 0.99034 2.644000 0.89710 0.655000 0.94253 CGT ERC1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398380.2 134.485266 0 -7 94 0 0 1 0 NM_015064 44 134.961218 59 0.427184 ZMAT1 84460 broad.mit.edu hg19 X 101159302 101159302 + Translation_Start_Site SNP G G A rs141888312 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:101159302G>A ENST00000458570.1 - 0 316 ZMAT1_ENST00000540921.1_Splice_Site_p.D41D|ZMAT1_ENST00000372782.3_Splice_Site_p.D41D NM_001282401.1 NP_001269330.1 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TCCAAATGGCGTCTGTGAATA 0.299 0 75.0 67.0 69.0 X 101159302 2202 4298 6500 Z69304 CCDS35348.1 Xq21 2012-10-05 2010-09-15 ENSG00000166432 ENSG00000166432 """Zinc fingers, matrin-type""" 29377 protein-coding gene gene with protein product Standard NM_001011657 Approved KIAA1789 uc011mrl.2 Q5H9K5 OTTHUMG00000022044 ENST00000458570.1:c.-1015C>T X.37:g.101159302G>A Q8NDS3|Q96JN6 ENST00000458570.1 37 ZMAT1-201 KNOWN basic protein_coding protein_coding 10.190169 0 3 43 0 0 1 0 4 11.467911 14 0.222222 GPR101 83550 broad.mit.edu hg19 X 136112961 136112961 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:136112961C>T ENST00000298110.1 - 1 872 c.873G>A c.(871-873)acG>acA p.T291T NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 291 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CACTGGTCCCCGTGCTTCCTT 0.612 0 209.0 142.0 165.0 X 136112961 2203 4300 6503 SO:0001819 synonymous_variant AF411115 CCDS14662.1 Xq26.3 2014-01-30 ENSG00000165370 ENSG00000165370 """GPCR / Class A : Orphans""" 14963 protein-coding gene gene with protein product 300393 11574155 Standard NM_054021 Approved uc011mwh.2 Q96P66 OTTHUMG00000022521 ENST00000298110.1:c.873G>A X.37:g.136112961C>T Q5JSM8|Q8NG93 ENST00000298110.1 37 CCDS14662.1 GPR101-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058519.1 99.355377 0 -15 104 0 0 1 0 33 100.117324 50 0.397590 JPH2 57158 broad.mit.edu hg19 20 42788529 42788529 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:42788529G>A ENST00000372980.3 - 2 1770 c.898C>T c.(898-900)Cgc>Tgc p.R300C NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 300 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AAGCCCGAGCGTTTGTCGTTC 0.687 0 58.0 51.0 53.0 20 42788529 2203 4300 6503 SO:0001583 missense AL034419 CCDS13325.1, CCDS13326.1 20q12-q13.11 2014-09-17 ENSG00000149596 ENSG00000149596 14202 protein-coding gene gene with protein product 605267 10891348, 10949023 Standard XM_006723832 Approved JP-2 uc002xli.1 Q9BR39 OTTHUMG00000033037 ENST00000372980.3:c.898C>T 20.37:g.42788529G>A ENSP00000362071:p.Arg300Cys E1P5X1|O95913|Q5JY74|Q9UJN4 ENST00000372980.3 37 CCDS13325.1 . . . . . . . . . . g 16.62 3.175181 0.57692 . . ENSG00000149596 ENST00000372980 T 0.59638 0.25 3.1 3.1 0.35709 . 0.000000 0.85682 D 0.000000 T 0.75700 0.3885 M 0.80847 2.515 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.80957 -0.1150 10 0.87932 D 0 . 14.3498 0.66694 0.0:0.0:1.0:0.0 . 300 Q9BR39 JPH2_HUMAN C 300 ENSP00000362071:R300C ENSP00000362071:R300C R - 1 0 JPH2 42221943 1.000000 0.71417 0.998000 0.56505 0.192000 0.23643 9.137000 0.94496 1.545000 0.49373 0.298000 0.19748 CGC JPH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080307.1 6.616093 0 -14 20 0 0 1 0 3 7.872025 12 0.200000 ANKRD50 57182 broad.mit.edu hg19 4 125592546 125592546 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:125592546G>A ENST00000504087.1 - 4 2923 c.1886C>T c.(1885-1887)gCa>gTa p.A629V ANKRD50_ENST00000515641.1_Missense_Mutation_p.A450V NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 629 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 ATAAAGTAGTGCAGAAACTAC 0.453 0 127.0 116.0 120.0 4 125592546 2203 4300 6503 SO:0001583 missense AB033049 CCDS34060.1, CCDS54802.1 4q28.1 2013-01-10 ENSG00000151458 ENSG00000151458 """Ankyrin repeat domain containing""" 29223 protein-coding gene gene with protein product Standard NM_020337 Approved KIAA1223 uc010inw.3 Q9ULJ7 OTTHUMG00000161398 ENST00000504087.1:c.1886C>T 4.37:g.125592546G>A ENSP00000425658:p.Ala629Val A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6 ENST00000504087.1 37 CCDS34060.1 . . . . . . . . . . G 11.02 1.514877 0.27123 . . ENSG00000151458 ENST00000504087;ENST00000515641 T;T 0.64618 -0.11;-0.06 5.21 5.21 0.72293 Ankyrin repeat-containing domain (4); 0.130432 0.50627 D 0.000115 T 0.52208 0.1720 N 0.10809 0.05 0.80722 D 1 P 0.45986 0.87 P 0.46718 0.525 T 0.54984 -0.8211 10 0.35671 T 0.21 . 18.9425 0.92610 0.0:0.0:1.0:0.0 . 629 Q9ULJ7 ANR50_HUMAN V 629;450 ENSP00000425658:A629V;ENSP00000425355:A450V ENSP00000425658:A629V A - 2 0 ANKRD50 125811996 1.000000 0.71417 0.813000 0.32504 0.342000 0.28953 7.095000 0.76952 2.714000 0.92807 0.585000 0.79938 GCA ANKRD50-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364775.1 84.024732 0 -9 93 0 0 1 0 NM_020337 30 85.028998 49 0.379747 MLC1 23209 broad.mit.edu hg19 22 50515862 50515862 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:50515862G>A ENST00000311597.5 - 6 1099 c.493C>T c.(493-495)Cgg>Tgg p.R165W MLC1_ENST00000431262.2_Missense_Mutation_p.R135W|MLC1_ENST00000535444.1_Missense_Mutation_p.R86W|MLC1_ENST00000450140.2_Missense_Mutation_p.R113W|MLC1_ENST00000538737.1_Missense_Mutation_p.R131W|MLC1_ENST00000395876.2_Missense_Mutation_p.R165W NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 165 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) TCGCTGGACCGTGCAGCGATG 0.632 0 77.0 59.0 65.0 22 50515862 2203 4300 6503 SO:0001583 missense D25217 CCDS14083.1 22q13.33 2007-03-20 ENSG00000100427 ENSG00000100427 17082 protein-coding gene gene with protein product 605908 7584026, 7584028 Standard XR_430476 Approved MLC, KIAA0027, LVM, VL uc003bjg.1 Q15049 OTTHUMG00000150236 ENST00000311597.5:c.493C>T 22.37:g.50515862G>A ENSP00000310375:p.Arg165Trp B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8 ENST00000311597.5 37 CCDS14083.1 . . . . . . . . . . G 15.68 2.906176 0.52333 . . ENSG00000100427 ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140;ENST00000442311 D;D;D;D;D;D;D 0.88046 -2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33 4.38 3.22 0.36961 . 0.000000 0.85682 D 0.000000 D 0.91209 0.7230 M 0.70275 2.135 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.85130 0.997;0.997;0.996;0.997 D 0.90994 0.4837 10 0.87932 D 0 -5.6194 8.6789 0.34196 0.0:0.0:0.6515:0.3485 . 131;135;113;165 F5H1B9;B7Z659;B7Z1X1;Q15049 .;.;.;MLC1_HUMAN W 165;165;131;135;86;113;135 ENSP00000379216:R165W;ENSP00000310375:R165W;ENSP00000445805:R131W;ENSP00000415877:R135W;ENSP00000438910:R86W;ENSP00000412448:R113W;ENSP00000401385:R135W ENSP00000310375:R165W R - 1 2 MLC1 48857989 0.998000 0.40836 0.895000 0.35142 0.247000 0.25773 2.843000 0.48238 2.124000 0.65301 0.655000 0.94253 CGG MLC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316979.2 54.173046 0 -5 55 0 0 1 0 NM_015166 17 54.225771 20 0.459459 HTT 3064 broad.mit.edu hg19 4 3123053 3123053 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:3123053C>T ENST00000355072.5 + 9 1312 c.1167C>T c.(1165-1167)ccC>ccT p.P389P NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 389 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CGCCTCCACCCGAGCTTCTGC 0.567 0 65.0 66.0 66.0 4 3123053 1946 4153 6099 SO:0001819 synonymous_variant L12392 CCDS43206.1 4p16.3 2014-09-17 2007-12-04 2007-12-04 ENSG00000197386 ENSG00000197386 """Endogenous ligands""" 4851 protein-coding gene gene with protein product 613004 """huntingtin (Huntington disease)""" HD 8458085 Standard NM_002111 Approved IT15 uc021xkv.1 P42858 OTTHUMG00000159916 ENST00000355072.5:c.1167C>T 4.37:g.3123053C>T Q9UQB7 ENST00000355072.5 37 CCDS43206.1 HTT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000358234.2 54.975701 0 21 57 0 0 1 0 NM_002111 17 54.975701 17 0.500000 SLC9A3 6550 broad.mit.edu hg19 5 476456 476456 + Missense_Mutation SNP G G A rs150973602 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:476456G>A ENST00000264938.3 - 13 1937 c.1928C>T c.(1927-1929)aCg>aTg p.T643M CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.T634M NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 643 Interaction with PDZD3 (By similarity). cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CTCGTCCTCCGTGGGCGTGAG 0.612 0 119.0 117.0 118.0 5 476456 2203 4300 6503 SO:0001583 missense CCDS3855.1, CCDS64116.1 5p15.3 2013-05-22 2012-03-22 ENSG00000066230 ENSG00000066230 """Solute carriers""" 11073 protein-coding gene gene with protein product 182307 """solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3""" NHE3 8096830 Standard NM_004174 Approved uc003jbe.2 P48764 OTTHUMG00000090315 ENST00000264938.3:c.1928C>T 5.37:g.476456G>A ENSP00000264938:p.Thr643Met B7ZKR2|E9PF67|Q3MIW3 ENST00000264938.3 37 CCDS3855.1 . . . . . . . . . . G 10.15 1.270121 0.23221 2.27E-4 0.0 ENSG00000066230 ENST00000264938;ENST00000514375 T;T 0.77358 -1.09;-1.09 4.85 -6.47 0.01902 . 1.774650 0.02765 N 0.119060 T 0.61198 0.2328 N 0.22421 0.69 0.09310 N 1 D;P 0.57571 0.98;0.923 B;B 0.40329 0.326;0.266 T 0.64812 -0.6319 10 0.66056 D 0.02 . 6.968 0.24632 0.0:0.3441:0.2995:0.3565 . 634;643 E9PF67;P48764 .;SL9A3_HUMAN M 643;634 ENSP00000264938:T643M;ENSP00000422983:T634M ENSP00000264938:T643M T - 2 0 SLC9A3 529456 0.000000 0.05858 0.000000 0.03702 0.080000 0.17528 -0.709000 0.05030 -1.541000 0.01727 -0.499000 0.04595 ACG SLC9A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206677.2 113.363144 0 -31 130 0 0 1 0 NM_004174 37 113.673254 48 0.435294 NCOA6 23054 broad.mit.edu hg19 20 33328468 33328468 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:33328468G>A ENST00000374796.2 - 12 8162 c.5592C>T c.(5590-5592)ctC>ctT p.L1864L NCOA6_ENST00000359003.2_Silent_p.L1864L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1864 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTGTTCCCATGAGCCCCGGAG 0.542 0 107.0 109.0 108.0 20 33328468 2203 4300 6503 SO:0001819 synonymous_variant AF128458 CCDS13241.1, CCDS74720.1 20q11 2008-08-01 ENSG00000198646 ENSG00000198646 15936 protein-coding gene gene with protein product """nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein""" 605299 8724849, 8263591 Standard NM_014071 Approved KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC uc002xaw.3 Q14686 OTTHUMG00000032311 ENST00000374796.2:c.5592C>T 20.37:g.33328468G>A A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86 ENST00000374796.2 37 CCDS13241.1 NCOA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078811.2 105.731545 0 -13 87 0 0 1 0 NM_014071 35 105.744744 33 0.514706 VPS72 6944 broad.mit.edu hg19 1 151149201 151149201 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:151149201G>A ENST00000354473.4 - 6 1083 c.1047C>T c.(1045-1047)gcC>gcT p.A349A Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 338 Poly-Pro.|Pro-rich. chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGGGCCCAGGGCTGAGGCAG 0.572 0 76.0 83.0 81.0 1 151149201 2203 4300 6503 SO:0001819 synonymous_variant D43642 CCDS989.1, CCDS59201.1 1q21 2008-02-05 2006-12-19 2005-09-08 ENSG00000163159 ENSG00000163159 11644 protein-coding gene gene with protein product 600607 """transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)""" TCFL1 7702631 Standard NM_001271087 Approved YL-1, YL1, Swc2 uc001exe.2 Q15906 OTTHUMG00000012345 ENST00000354473.4:c.1047C>T 1.37:g.151149201G>A A6NLK9|A6PW55|Q53GJ2|Q5U0R4 ENST00000354473.4 37 CCDS59201.1 VPS72-002 NOVEL mRNA_start_NF|basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000034394.3 -6.423066 0 14 112 0 0 1 0 NM_005997 3 6.461739 57 0.050000 MED9 55090 broad.mit.edu hg19 17 17394702 17394702 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:17394702G>A ENST00000268711.3 + 2 390 c.334G>A c.(334-336)Gaa>Aaa p.E112K NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 112 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCTGAGCCCCGAACAGCAGCA 0.582 1 81.0 78.0 79.0 17 17394702 2203 4300 6503 SO:0001583 missense BC000647 CCDS11184.1 17p11.2 2007-07-30 2007-07-30 ENSG00000141026 ENSG00000141026 25487 protein-coding gene gene with protein product 609878 """mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)""" 11997338 Standard NM_018019 Approved FLJ10193, MED25 uc002grh.1 Q9NWA0 OTTHUMG00000059293 ENST00000268711.3:c.334G>A 17.37:g.17394702G>A ENSP00000268711:p.Glu112Lys ENST00000268711.3 37 CCDS11184.1 . . . . . . . . . . G 29.8 5.033615 0.93575 . . ENSG00000141026 ENST00000268711 . . . 4.71 4.71 0.59529 . 0.189070 0.44902 D 0.000401 T 0.63733 0.2536 M 0.78637 2.42 0.80722 D 1 D 0.53151 0.958 P 0.44597 0.454 T 0.72877 -0.4159 9 0.72032 D 0.01 -33.7092 16.8296 0.85940 0.0:0.0:1.0:0.0 . 112 Q9NWA0 MED9_HUMAN K 112 . ENSP00000268711:E112K E + 1 0 MED9 17335427 1.000000 0.71417 0.997000 0.53966 0.984000 0.73092 5.734000 0.68580 2.448000 0.82819 0.655000 0.94253 GAA MED9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000131669.2 78.172852 0 -1 102 0 0 1 0 NM_018019 25 78.189528 27 0.480769 NUFIP2 57532 broad.mit.edu hg19 17 27613317 27613317 + Silent SNP G G A rs150088850 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:27613317G>A ENST00000225388.4 - 2 1753 c.1695C>T c.(1693-1695)taC>taT p.Y565Y NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 565 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) TCTCCAGCTCGTAAGCCTTGG 0.463 1 85.0 84.0 84.0 17 27613317 2203 4300 6503 SO:0001819 synonymous_variant AB037742 CCDS32600.1 17q11.1 2006-03-01 ENSG00000108256 17634 protein-coding gene gene with protein product 609356 12837692, 16407062 Standard NM_020772 Approved KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP uc002hdy.4 Q7Z417 ENST00000225388.4:c.1695C>T 17.37:g.27613317G>A A1L3A6|Q9P2M5 ENST00000225388.4 37 CCDS32600.1 NUFIP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000447015.2 39.062160 0 3 83 0 0 1 0 NM_020772 16 43.982203 55 0.225352 C6orf136 221545 broad.mit.edu hg19 6 30617438 30617438 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:30617438G>A ENST00000293604.6 + 2 912 c.719G>A c.(718-720)cGc>cAc p.R240H C6orf136_ENST00000493705.1_3'UTR|C6orf136_ENST00000376473.5_Missense_Mutation_p.R59H|C6orf136_ENST00000376471.4_Intron NM_001161376.1 NP_001154848.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 59 endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CTGCCCCCACGCCTTCCCACC 0.612 0 120.0 127.0 125.0 6 30617438 2080 4220 6300 SO:0001583 missense BC016167 CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1 6p21.32 2012-02-06 ENSG00000204564 ENSG00000204564 21301 protein-coding gene gene with protein product Standard NM_001109938 Approved Em:AB023049.8 uc003nqx.4 Q5SQH8 OTTHUMG00000031221 ENST00000376473.5:c.176G>A 6.37:g.30617438G>A ENSP00000365656:p.Arg59His A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84 ENST00000376473.5 37 CCDS43443.1 . . . . . . . . . . G 8.403 0.842316 0.16963 . . ENSG00000204564 ENST00000293604;ENST00000376473;ENST00000446773 . . . 5.51 -5.96 0.02234 . 2.161400 0.01898 N 0.038983 T 0.05227 0.0139 N 0.12182 0.205 0.09310 N 1 B;B 0.06786 0.001;0.0 B;B 0.04013 0.001;0.0 T 0.12915 -1.0529 9 0.36615 T 0.2 0.8566 1.4301 0.02332 0.4817:0.1262:0.1846:0.2075 . 240;59 F8VX15;Q5SQH8 .;CF136_HUMAN H 240;59;177 . ENSP00000293604:R240H R + 2 0 C6orf136 30725417 0.000000 0.05858 0.000000 0.03702 0.060000 0.15804 -0.939000 0.03933 -0.871000 0.04042 0.557000 0.71058 CGC C6orf136-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076457.4 -9.060148 0 -33 120 0 0 1 0 NM_145029 4 7.289579 73 0.051948 ZBTB7A 51341 broad.mit.edu hg19 19 4054867 4054867 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:4054867C>T ENST00000322357.4 - 2 642 c.364G>A c.(364-366)Gtg>Atg p.V122M ZBTB7A_ENST00000601588.1_Missense_Mutation_p.V122M NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 122 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TCGGCGCACACGTGGCTCACG 0.677 0 22.0 21.0 21.0 19 4054867 2189 4295 6484 SO:0001583 missense AF000561 CCDS12119.1 19p13.3 2013-01-08 2005-04-07 ENSG00000178951 """-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing""" 18078 protein-coding gene gene with protein product """zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor""" 605878 """zinc finger and BTB domain containing 7""" ZBTB7 9973611, 9927193 Standard NM_015898 Approved FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A uc002lzi.3 O95365 ENST00000322357.4:c.364G>A 19.37:g.4054867C>T ENSP00000323670:p.Val122Met D6W619|O00456|Q14D41|Q5XG86 ENST00000322357.4 37 CCDS12119.1 . . . . . . . . . . C 24.7 4.555856 0.86231 . . ENSG00000178951 ENST00000322357 T 0.67865 -0.29 5.07 5.07 0.68467 BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2); 0.000000 0.64402 D 0.000004 T 0.78470 0.4288 L 0.53561 1.675 0.54753 D 0.999986 D 0.89917 1.0 D 0.71656 0.974 T 0.80209 -0.1477 10 0.62326 D 0.03 . 17.417 0.87503 0.0:1.0:0.0:0.0 . 122 O95365 ZBT7A_HUMAN M 122 ENSP00000323670:V122M ENSP00000323670:V122M V - 1 0 ZBTB7A 4005867 1.000000 0.71417 0.999000 0.59377 0.994000 0.84299 7.594000 0.82698 2.353000 0.79882 0.462000 0.41574 GTG ZBTB7A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457621.2 12.198189 0 -10 12 0 0 1 0 NM_015898 4 12.285584 6 0.400000 PLCD4 84812 broad.mit.edu hg19 2 219483520 219483520 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:219483520C>T ENST00000450993.2 + 4 739 c.400C>T c.(400-402)Cgc>Tgc p.R134C PLCD4_ENST00000417849.1_Missense_Mutation_p.R134C|PLCD4_ENST00000432688.1_Missense_Mutation_p.R134C NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 134 EF-hand 1. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCATCAGGAGCGCCTGGACCA 0.577 0 19.0 20.0 20.0 2 219483520 2078 4203 6281 SO:0001583 missense AI366170 CCDS46516.1 2q35 2013-01-10 ENSG00000115556 ENSG00000115556 """EF-hand domain containing""" 9062 protein-coding gene gene with protein product 605939 10702683, 9056492 Standard NM_032726 Approved uc021vwx.1 Q9BRC7 OTTHUMG00000154743 ENST00000432688.1:c.400C>T 2.37:g.219483520C>T ENSP00000396185:p.Arg134Cys Q53FS8 ENST00000432688.1 37 . . . . . . . . . . C 14.75 2.628514 0.46944 . . ENSG00000115556 ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688 T;T;T 0.44482 0.92;0.92;0.92 4.89 -0.634 0.11516 . 0.932149 0.08653 U 0.913725 T 0.48241 0.1489 L 0.43923 1.385 0.35091 D 0.76433 D;D 0.89917 1.0;0.999 D;P 0.64595 0.927;0.724 T 0.57837 -0.7742 10 0.87932 D 0 . 4.2227 0.10565 0.4874:0.2579:0.0:0.2547 . 81;134 B4DN84;Q9BRC7 .;PLCD4_HUMAN C 134 ENSP00000388631:R134C;ENSP00000396942:R134C;ENSP00000396185:R134C ENSP00000251959:R134C R + 1 0 PLCD4 219191764 0.985000 0.35326 0.516000 0.27786 0.976000 0.68499 2.383000 0.44354 0.014000 0.14944 0.655000 0.94253 CGC PLCD4-007 NOVEL non_canonical_conserved|not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000336882.1 20.252831 0 -2 13 0 0 1 0 6 20.474184 3 0.666667 C20orf26 26074 broad.mit.edu hg19 20 20177279 20177279 + Silent SNP C C T rs78795550 by1000genomes TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:20177279C>T ENST00000245957.5 + 16 1732 c.1656C>T c.(1654-1656)cgC>cgT p.R552R C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 552 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ACCACCAGCGCGAAGAACACG 0.463 0 153.0 125.0 135.0 20 20177279 2203 4300 6503 SO:0001819 synonymous_variant ENST00000245957.5:c.1656C>T 20.37:g.20177279C>T A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7 ENST00000245957.5 37 CCDS33447.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 9.621 1.133941 0.21123 2.27E-4 0.0 ENSG00000089101 ENST00000431753 . . . 5.83 -10.0 0.00425 . . . . . T 0.32224 0.0822 . . . 0.80722 D 1 . . . . . . T 0.41378 -0.9512 4 . . . . 1.8644 0.03195 0.2904:0.0963:0.3508:0.2625 . . . . V 92 . . A + 2 0 C20orf26 20125279 0.000000 0.05858 0.178000 0.23040 0.981000 0.71138 -2.349000 0.01093 -1.563000 0.01680 -0.150000 0.13652 GCG C20orf26-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078228.3 37.923168 0 -7 75 0 0 1 0 14 39.222537 30 0.318182 MYO1F 4542 broad.mit.edu hg19 19 8601203 8601203 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:8601203G>A ENST00000338257.8 - 19 2243 c.1976C>T c.(1975-1977)gCg>gTg p.A659V NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 659 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CATGTTGACCGCCCGAAGCAG 0.637 0 67.0 68.0 68.0 19 8601203 2030 4210 6240 SO:0001583 missense X98411 CCDS42494.1 19p13.3-p13.2 2011-09-27 ENSG00000142347 ENSG00000142347 """Myosins / Myosin superfamily : Class I""" 7600 protein-coding gene gene with protein product 601480 9119401, 8884266 Standard NM_012335 Approved uc002mkg.3 O00160 OTTHUMG00000156005 ENST00000338257.8:c.1976C>T 19.37:g.8601203G>A ENSP00000344871:p.Ala659Val Q8WWN7 ENST00000338257.8 37 CCDS42494.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 G 22.8 4.333385 0.81801 . . ENSG00000142347 ENST00000305795;ENST00000338257 D 0.87966 -2.32 4.51 4.51 0.55191 Myosin head, motor domain (2); 0.067309 0.64402 D 0.000010 D 0.84615 0.5511 M 0.65975 2.015 0.41335 D 0.987269 P 0.40250 0.709 B 0.33454 0.164 D 0.86832 0.2011 10 0.51188 T 0.08 . 16.2491 0.82473 0.0:0.0:1.0:0.0 . 659 O00160 MYO1F_HUMAN V 704;659 ENSP00000344871:A659V ENSP00000304899:A704V A - 2 0 MYO1F 8507203 1.000000 0.71417 0.624000 0.29186 0.904000 0.53231 9.781000 0.99029 2.076000 0.62316 0.454000 0.30748 GCG MYO1F-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342716.2 8.522471 0 -2 53 0 0 1 0 6 12.997189 33 0.153846 RAD23B 5887 broad.mit.edu hg19 9 110084367 110084367 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:110084367C>T ENST00000358015.3 + 7 1136 c.785C>T c.(784-786)aCg>aTg p.T262M RAD23B_ENST00000416373.2_Missense_Mutation_p.T190M NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 262 Poly-Thr. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCAGCAACTACGACAGCAACA 0.488 0 63.0 67.0 65.0 9 110084367 2203 4300 6503 SO:0001583 missense CCDS6769.1, CCDS59138.1 9q31.2 2008-07-21 2001-11-28 ENSG00000119318 ENSG00000119318 9813 protein-coding gene gene with protein product """XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa""" 600062 """RAD23 (S. cerevisiae) homolog B""" 7851894, 8168482 Standard NM_002874 Approved HHR23B, P58, HR23B uc004bde.3 P54727 OTTHUMG00000020446 ENST00000358015.3:c.785C>T 9.37:g.110084367C>T ENSP00000350708:p.Thr262Met B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0 ENST00000358015.3 37 CCDS6769.1 . . . . . . . . . . C 19.14 3.770683 0.69992 0.0 1.16E-4 ENSG00000119318 ENST00000358015;ENST00000416373 T;T 0.18657 2.21;2.2 5.19 5.19 0.71726 . 0.210963 0.47852 D 0.000217 T 0.34250 0.0891 L 0.27053 0.805 0.50171 D 0.999857 D;P;D 0.89917 1.0;0.908;0.995 D;B;P 0.75020 0.985;0.394;0.661 T 0.04281 -1.0963 10 0.41790 T 0.15 -17.36 17.8341 0.88691 0.0:1.0:0.0:0.0 . 241;262;262 B7Z4W4;B4DEA3;P54727 .;.;RD23B_HUMAN M 262;190 ENSP00000350708:T262M;ENSP00000405623:T190M ENSP00000350708:T262M T + 2 0 RAD23B 109124188 0.882000 0.30256 0.747000 0.31113 0.714000 0.41099 3.929000 0.56514 2.579000 0.87056 0.555000 0.69702 ACG RAD23B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053548.1 7.882316 0 19 63 0 0 1 0 NM_002874 7 16.068228 51 0.120690 KAT2A 2648 broad.mit.edu hg19 17 40271407 40271407 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:40271407C>T ENST00000225916.5 - 6 982 c.929G>A c.(928-930)cGc>cAc p.R310H NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 310 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GGTTTCGTAGCGGGGGAGGCT 0.587 0 100.0 97.0 98.0 17 40271407 2203 4300 6503 SO:0001583 missense AF029777 CCDS11417.1 17q12-q21 2011-07-01 2008-07-04 2008-07-04 ENSG00000108773 ENSG00000108773 """Chromatin-modifying enzymes / K-acetyltransferases""" 4201 protein-coding gene gene with protein product 602301 """GCN5 general control of amino-acid synthesis 5-like 2 (yeast)""" GCN5L2 8552087 Standard NM_021078 Approved GCN5, PCAF-b uc002hyx.2 Q92830 OTTHUMG00000133504 ENST00000225916.5:c.929G>A 17.37:g.40271407C>T ENSP00000225916:p.Arg310His Q8N1A2|Q9UCW1 ENST00000225916.5 37 CCDS11417.1 . . . . . . . . . . C 13.22 2.173070 0.38413 . . ENSG00000108773 ENST00000225916 T 0.05199 3.48 4.69 3.71 0.42584 PCAF, N-terminal (1); 0.000000 0.85682 D 0.000000 T 0.05181 0.0138 N 0.20766 0.605 0.58432 D 0.999999 B 0.24675 0.109 B 0.27076 0.076 T 0.42430 -0.9452 10 0.17832 T 0.49 -18.4484 14.3531 0.66716 0.1492:0.8508:0.0:0.0 . 310 Q92830 KAT2A_HUMAN H 310 ENSP00000225916:R310H ENSP00000225916:R310H R - 2 0 KAT2A 37524933 1.000000 0.71417 0.824000 0.32777 0.855000 0.48748 7.651000 0.83577 1.198000 0.43158 0.555000 0.69702 CGC KAT2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257458.1 86.866145 0 -20 106 0 0 1 0 NM_021078 29 86.922493 33 0.467742 GJA1 2697 broad.mit.edu hg19 6 121768726 121768726 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:121768726G>A ENST00000282561.3 + 2 890 c.733G>A c.(733-735)Gac>Aac p.D245N NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 245 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) GGGAAAGAGCGACCCTTACCA 0.507 0 100.0 99.0 99.0 6 121768726 2203 4300 6503 SO:0001583 missense BC026329 CCDS5123.1 6q22.31 2013-05-10 2007-01-16 ENSG00000152661 ENSG00000152661 """Ion channels / Gap junction proteins (connexins)""" 4274 protein-coding gene gene with protein product """oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43""" 121014 """gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)""" ODDD, GJAL 10331943, 1646158 Standard NM_000165 Approved CX43, ODD, ODOD, SDTY3 uc003pyr.3 P17302 OTTHUMG00000015479 ENST00000282561.3:c.733G>A 6.37:g.121768726G>A ENSP00000282561:p.Asp245Asn B2R5U9|Q6FHU1|Q9Y5I8 ENST00000282561.3 37 CCDS5123.1 . . . . . . . . . . G 3.137 -0.177081 0.06380 0.0 1.16E-4 ENSG00000152661 ENST00000440608;ENST00000282561 D 0.97066 -4.23 5.71 4.84 0.62591 . 0.730394 0.11003 U 0.610297 D 0.89174 0.6640 N 0.12182 0.205 0.42019 D 0.990972 B 0.17268 0.021 B 0.08055 0.003 T 0.78645 -0.2123 10 0.28530 T 0.3 . 16.7504 0.85484 0.0:0.1293:0.8707:0.0 . 245 P17302 CXA1_HUMAN N 229;245 ENSP00000282561:D245N ENSP00000282561:D245N D + 1 0 GJA1 121810425 1.000000 0.71417 0.843000 0.33291 0.010000 0.07245 4.206000 0.58473 1.404000 0.46819 0.585000 0.79938 GAC GJA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042023.1 17.085984 0 8 65 0 0 1 0 NM_000165 8 20.027111 30 0.210526 ZNF629 23361 broad.mit.edu hg19 16 30793309 30793309 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:30793309G>A ENST00000262525.4 - 3 2547 c.2340C>T c.(2338-2340)cgC>cgT p.R780R NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 780 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) TGAGGGCCACGCGGTCGAGGA 0.647 0 80.0 95.0 90.0 16 30793309 1915 4115 6030 SO:0001819 synonymous_variant AB002324 CCDS45463.1 16p11.2 2013-01-08 ENSG00000102870 """Zinc fingers, C2H2-type""" 29008 protein-coding gene gene with protein product """zinc finger protein 65""" ZNF65 9205841 Standard NM_001080417 Approved KIAA0326 uc002dzs.1 Q9UEG4 ENST00000262525.4:c.2340C>T 16.37:g.30793309G>A Q15938 ENST00000262525.4 37 CCDS45463.1 ZNF629-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434291.1 52.397638 0 -28 132 0 0 1 0 NM_015309 22 59.424876 77 0.222222 PLEKHM3 389072 broad.mit.edu hg19 2 208795810 208795810 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:208795810C>T ENST00000457206.1 - 5 2153 c.1726G>A c.(1726-1728)Gtg>Atg p.V576M PLEKHM3_ENST00000427836.2_Missense_Mutation_p.V576M|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.V576M Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 576 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTTCGTACACGTACTCCAGA 0.602 0 71.0 76.0 74.0 2 208795810 2051 4204 6255 SO:0001583 missense AK057612 CCDS42808.1 2q33.3 2013-01-10 2008-04-03 2008-04-03 ENSG00000178385 ENSG00000178385 """Pleckstrin homology (PH) domain containing""" 34006 protein-coding gene gene with protein product """differentiation associated protein""" """pleckstrin homology domain containing, family M, member 1-like""" PLEKHM1L 19028694 Standard NM_001080475 Approved DAPR uc002vcl.2 Q6ZWE6 OTTHUMG00000154781 ENST00000427836.2:c.1726G>A 2.37:g.208795810C>T ENSP00000417003:p.Val576Met B9EKV2|Q8WW68 ENST00000427836.2 37 CCDS42808.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 23.1|23.1 4.377049|4.377049 0.82682|0.82682 .|. .|. ENSG00000178385|ENSG00000178385 ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206 .|D;D;D .|0.84516 .|-1.85;-1.86;-1.84 5.79|5.79 5.79|5.79 0.91817|0.91817 .|. .|0.000000 .|0.85682 .|D .|0.000000 D|D 0.87438|0.87438 0.6177|0.6177 N|N 0.17474|0.17474 0.49|0.49 0.80722|0.80722 D|D 1|1 .|D;D .|0.89917 .|0.999;1.0 .|D;D .|0.85130 .|0.966;0.997 D|D 0.87789|0.87789 0.2617|0.2617 5|10 .|0.45353 .|T .|0.12 .|. 20.0292|20.0292 0.97532|0.97532 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|576;576 .|C9J119;Q6ZWE6 .|.;PKHM3_HUMAN H|M 327|576 .|ENSP00000417003:V576M;ENSP00000373899:V576M;ENSP00000400150:V576M .|ENSP00000373899:V576M R|V -|- 2|1 0|0 PLEKHM3|PLEKHM3 208504055|208504055 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.886000|0.886000 0.51366|0.51366 4.887000|4.887000 0.63156|0.63156 2.740000|2.740000 0.93945|0.93945 0.460000|0.460000 0.39030|0.39030 CGT|GTG PLEKHM3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337036.1 38.730865 0 -21 78 0 0 1 0 NM_001080475 14 40.905231 36 0.280000 SF3B1 23451 broad.mit.edu hg19 2 198267484 198267484 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe 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 59.951155 0 4 58 0 0 1 0 18 59.951155 18 0.500000 TADA3 10474 broad.mit.edu hg19 3 9831435 9831435 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:9831435G>A ENST00000343450.2 - 3 967 c.420C>T c.(418-420)atC>atT p.I140I TADA3_ENST00000301964.2_Silent_p.I140I|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Silent_p.I140I NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 140 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 GTGGCACGTCGATAGGGTCAT 0.572 0 127.0 114.0 118.0 3 9831435 2203 4300 6503 SO:0001819 synonymous_variant AF069733 CCDS2583.1, CCDS2584.1 3p25.3 2010-08-13 2009-10-02 2009-10-02 ENSG00000171148 ENSG00000171148 19422 protein-coding gene gene with protein product 602945 """transcriptional adaptor 3 (NGG1 homolog, yeast)-like""" TADA3L 9674425, 11707411 Standard NM_006354 Approved FLJ20221, FLJ21329, ADA3, hADA3, NGG1 uc010hcn.2 O75528 OTTHUMG00000128440 ENST00000301964.2:c.420C>T 3.37:g.9831435G>A Q6FI83|Q9UFS2 ENST00000301964.2 37 CCDS2583.1 TADA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250236.1 12.760809 0 -42 123 0 0 1 0 8 19.416502 47 0.145455 AOX1 316 broad.mit.edu hg19 2 201478596 201478596 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:201478596G>A ENST00000374700.2 + 15 1759 c.1518G>A c.(1516-1518)tcG>tcA p.S506S AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 506 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 TTTTGGGCTCGGCGCCAGGTG 0.473 0 94.0 90.0 92.0 2 201478596 2203 4300 6503 SO:0001819 synonymous_variant AF017060 CCDS33360.1 2q33 2008-05-20 ENSG00000138356 ENSG00000138356 553 protein-coding gene gene with protein product 602841 7570184 Standard NM_001159 Approved AO, AOH1 uc002uvx.3 Q06278 OTTHUMG00000154536 ENST00000374700.2:c.1518G>A 2.37:g.201478596G>A O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6 ENST00000374700.2 37 CCDS33360.1 AOX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335844.1 -1.911030 0 6 57 0 0 1 0 NM_001159 3 6.846842 42 0.066667 KL 9365 broad.mit.edu hg19 13 33635718 33635718 + Silent SNP C C T rs147748913 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr13:33635718C>T ENST00000380099.3 + 4 2510 c.2502C>T c.(2500-2502)acC>acT p.T834T KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 834 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AAGAAATGACCGACATCACGT 0.473 0 90.0 89.0 90.0 13 33635718 2203 4300 6503 SO:0001819 synonymous_variant AB005142 CCDS9347.1 13q12 2008-02-05 ENSG00000133116 ENSG00000133116 6344 protein-coding gene gene with protein product 604824 9464267 Standard NM_004795 Approved uc001uus.3 Q9UEF7 OTTHUMG00000017408 ENST00000380099.3:c.2502C>T 13.37:g.33635718C>T Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0 ENST00000380099.3 37 CCDS9347.1 KL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045987.1 -2.413262 0 -9 72 0 0 1 0 3 7.159583 45 0.062500 ABHD8 79575 broad.mit.edu hg19 19 17412110 17412110 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:17412110C>T ENST00000247706.3 - 2 555 c.316G>A c.(316-318)Ggg>Agg p.G106R MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 106 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 CCATTCTGCCCGTGTAGGAGG 0.721 0 21.0 23.0 22.0 19 17412110 1985 3920 5905 SO:0001583 missense AK021805 CCDS12355.1 19p13.12 2010-12-09 ENSG00000127220 ENSG00000127220 """Abhydrolase domain containing""" 23759 protein-coding gene gene with protein product 12477932 Standard NM_024527 Approved FLJ11743, MGC14280, MGC2512 uc002ngb.4 Q96I13 ENST00000247706.3:c.316G>A 19.37:g.17412110C>T ENSP00000247706:p.Gly106Arg Q9HAE9 ENST00000247706.3 37 CCDS12355.1 . . . . . . . . . . C 12.08 1.829729 0.32329 . . ENSG00000127220 ENST00000247706;ENST00000544788 T 0.30981 1.51 5.24 4.2 0.49525 . 0.175578 0.50627 D 0.000119 T 0.16428 0.0395 N 0.14661 0.345 0.36626 D 0.876051 P 0.37708 0.606 B 0.32289 0.143 T 0.16364 -1.0405 10 0.45353 T 0.12 -14.7149 10.6748 0.45778 0.387:0.613:0.0:0.0 . 106 Q96I13 ABHD8_HUMAN R 106;52 ENSP00000247706:G106R ENSP00000247706:G106R G - 1 0 ABHD8 17273110 0.530000 0.26330 0.281000 0.24762 0.875000 0.50365 1.025000 0.30090 1.151000 0.42436 0.491000 0.48974 GGG ABHD8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462937.1 52.871376 0 10 81 0 0 1 0 NM_024527 17 52.962895 21 0.447368 GOLT1A 127845 broad.mit.edu hg19 1 204170925 204170925 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:204170925C>T ENST00000308302.3 - 3 317 c.132G>A c.(130-132)acG>acA p.T44T NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 44 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) GGGACAGGCCCGTCAGGAACA 0.602 1 93.0 99.0 97.0 1 204170925 2203 4300 6503 SO:0001819 synonymous_variant BC058832 CCDS1443.1 1q32.1 2010-06-24 2010-06-24 ENSG00000174567 ENSG00000174567 24766 protein-coding gene gene with protein product """golgi transport 1 homolog A (S. cerevisiae)""" 12477932 Standard NM_198447 Approved FLJ42654, CGI-141, YMR292W, GOT1, MGC62027 uc001has.1 Q6ZVE7 OTTHUMG00000036056 ENST00000308302.3:c.132G>A 1.37:g.204170925C>T ENST00000308302.3 37 CCDS1443.1 GOLT1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000087887.1 -1.407282 0 8 75 0 0 1 0 NM_198447 3 6.541410 39 0.071429 TNS3 64759 broad.mit.edu hg19 7 47408605 47408605 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:47408605G>A ENST00000398879.1 - 17 2004 c.1638C>T c.(1636-1638)gaC>gaT p.D546D TNS3_ENST00000311160.9_Silent_p.D546D|TNS3_ENST00000355730.3_Silent_p.D306D Q68CZ2 TENS3_HUMAN tensin 3 546 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CATAGGGGCCGTCCATGCCAA 0.617 0 42.0 46.0 44.0 7 47408605 2038 4191 6229 SO:0001819 synonymous_variant AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 """SH2 domain containing""" 21616 protein-coding gene gene with protein product """tumor endothelial marker 6""" 606825 """tensin-like SH2 domain-containing 1""" TENS1 11559528 Standard NM_022748 Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.1638C>T 7.37:g.47408605G>A B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 ENST00000398879.1 37 CCDS5506.2 TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157253.1 31.981881 0 -6 68 0 0 1 0 NM_022748 12 33.869427 31 0.279070 ZNF425 155054 broad.mit.edu hg19 7 148802334 148802334 + Missense_Mutation SNP C C T rs147910083 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:148802334C>T ENST00000378061.2 - 4 761 c.629G>A c.(628-630)cGg>cAg p.R210Q NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 210 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGAGTGGCTCCGTTTGTGCTT 0.522 0 67.0 70.0 69.0 7 148802334 2203 4300 6503 SO:0001583 missense AK056498 CCDS34773.1 7q36.1 2013-01-08 ENSG00000204947 ENSG00000204947 """Zinc fingers, C2H2-type"", ""-""" 20690 protein-coding gene gene with protein product Standard NM_001001661 Approved uc003wfj.3 Q6IV72 OTTHUMG00000158971 ENST00000378061.2:c.629G>A 7.37:g.148802334C>T ENSP00000367300:p.Arg210Gln B3KPM1|Q08AG3 ENST00000378061.2 37 CCDS34773.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 C 13.88 2.370085 0.42003 2.27E-4 0.0 ENSG00000204947 ENST00000378061 T 0.07444 3.19 2.89 0.995 0.19838 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.11793 0.0287 M 0.62266 1.93 0.24276 N 0.99523 D 0.58970 0.984 P 0.46419 0.516 T 0.16748 -1.0392 9 0.59425 D 0.04 . 6.6514 0.22965 0.0:0.7418:0.0:0.2582 . 210 Q6IV72 ZN425_HUMAN Q 210 ENSP00000367300:R210Q ENSP00000367300:R210Q R - 2 0 ZNF425 148433267 0.000000 0.05858 0.012000 0.15200 0.662000 0.39071 0.435000 0.21510 0.115000 0.18071 -0.136000 0.14681 CGG ZNF425-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352726.1 48.454381 0 5 80 0 0 1 0 XM_088140 17 50.527325 40 0.298246 MTMR14 64419 broad.mit.edu hg19 3 9743591 9743591 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:9743591C>T ENST00000296003.4 + 19 2009 c.1887C>T c.(1885-1887)atC>atT p.I629I MTMR14_ENST00000353332.5_Silent_p.I577I|MTMR14_ENST00000420925.1_Silent_p.I271I|MTMR14_ENST00000351233.5_Silent_p.I517I NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 629 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) CCGGTGCCATCGGGGGCCTGC 0.612 0 66.0 74.0 72.0 3 9743591 1981 4165 6146 SO:0001819 synonymous_variant BC001674 CCDS43043.1, CCDS43044.1, CCDS43045.1 3p26 2011-06-09 2006-12-18 2006-12-18 ENSG00000163719 ENSG00000163719 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins""" 26190 protein-coding gene gene with protein product """egg-derived tyrosine phosphatase homolog (Drosophila)""" 611089 """chromosome 3 open reading frame 29""" C3orf29 15186772 Standard NM_022485 Approved FLJ22405, FLJ90311, hJumpy, hEDTP uc003brz.3 Q8NCE2 OTTHUMG00000155111 ENST00000296003.4:c.1887C>T 3.37:g.9743591C>T Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0 ENST00000296003.4 37 CCDS43043.1 MTMR14-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000338435.1 73.337829 0 1 86 0 0 1 0 NM_022485 21 75.447593 1 0.954545 KIAA1211L 343990 broad.mit.edu hg19 2 99449341 99449341 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:99449341C>T ENST00000397899.2 - 4 690 c.359G>A c.(358-360)cGg>cAg p.R120Q KIAA1211L_ENST00000462314.1_Intron NM_207362.2 NP_997245.2 KIAA1211-like AGCTTTAATCCGATCACACAC 0.463 0 232.0 241.0 238.0 2 99449341 1907 4139 6046 SO:0001583 missense BC068277 CCDS42720.1 2q11.2 2012-08-03 2012-08-03 2012-08-03 ENSG00000196872 ENSG00000196872 33454 protein-coding gene gene with protein product """chromosome 2 open reading frame 55""" C2orf55 Standard NM_207362 Approved MGC42367 uc002szf.1 Q6NV74 OTTHUMG00000153171 ENST00000397899.2:c.359G>A 2.37:g.99449341C>T ENSP00000380996:p.Arg120Gln ENST00000397899.2 37 CCDS42720.1 . . . . . . . . . . C 28.2 4.901746 0.92035 . . ENSG00000196872 ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261 T 0.52754 0.65 4.96 4.96 0.65561 . 0.190957 0.27031 N 0.021265 T 0.67915 0.2944 M 0.65498 2.005 0.32497 N 0.539363 D 0.89917 1.0 D 0.91635 0.999 T 0.75379 -0.3338 10 0.87932 D 0 -13.8568 17.3797 0.87401 0.0:1.0:0.0:0.0 . 120 Q6NV74 CB055_HUMAN Q 120;148;134;134 ENSP00000380996:R120Q ENSP00000380996:R120Q R - 2 0 C2orf55 98815773 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.508000 0.67006 2.556000 0.86216 0.655000 0.94253 CGG KIAA1211L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000329933.1 -43.610548 0 -48 279 0 0 1 0 NM_207362 4 6.554116 191 0.020513 ZNF764 92595 broad.mit.edu hg19 16 30566853 30566853 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:30566853C>T ENST00000395091.2 - 3 1201 c.886G>A c.(886-888)Gcc>Acc p.A296T AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.A297T Q96H86 ZN764_HUMAN zinc finger protein 764 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 GAGGGGTAGGCGAAGGCGCGG 0.731 0 SO:0001583 missense BC008821 CCDS10683.1, CCDS54001.1 16p11.2 2013-01-08 ENSG00000169951 ENSG00000169951 """Zinc fingers, C2H2-type"", ""-""" 28200 protein-coding gene gene with protein product 12477932 Standard NM_033410 Approved MGC13138 uc002dyq.3 Q96H86 OTTHUMG00000132406 ENST00000252797.2:c.889G>A 16.37:g.30566853C>T ENSP00000252797:p.Ala297Thr A8MZF4|B3KSN2|H9KV99|Q9BWS1 ENST00000252797.2 37 CCDS10683.1 . . . . . . . . . . C 11.46 1.645688 0.29246 . . ENSG00000169951 ENST00000252797;ENST00000395091 T;T 0.17691 2.26;2.26 5.19 5.19 0.71726 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.38720 N 0.001581 T 0.17662 0.0424 N 0.11870 0.19 0.23813 N 0.996776 D;D 0.89917 1.0;0.962 D;P 0.91635 0.999;0.613 T 0.29882 -0.9997 10 0.12430 T 0.62 -19.7122 6.6707 0.23066 0.1786:0.7339:0.0:0.0875 . 296;297 B3KSN2;Q96H86 .;ZN764_HUMAN T 297;296 ENSP00000252797:A297T;ENSP00000378526:A296T ENSP00000252797:A297T A - 1 0 ZNF764 30474354 0.000000 0.05858 0.993000 0.49108 0.042000 0.13812 -1.697000 0.01910 2.709000 0.92574 0.561000 0.74099 GCC ZNF764-001 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255541.1 15.675857 0 -8 16 0 0 1 0 NM_033410 5 15.700072 4 0.555556 ARHGEF11 9826 broad.mit.edu hg19 1 156907251 156907251 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:156907251C>T ENST00000368194.3 - 39 5269 c.4230G>A c.(4228-4230)ccG>ccA p.P1410P ARHGEF11_ENST00000315174.8_Silent_p.P786P|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Silent_p.P1370P NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1370 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGCTTGAGTCCGGGGGTCCTG 0.592 0 70.0 66.0 67.0 1 156907251 2203 4300 6503 SO:0001819 synonymous_variant AB002378 CCDS1162.1, CCDS1163.1 1q21 2011-11-16 ENSG00000132694 ENSG00000132694 """Rho guanine nucleotide exchange factors""" 14580 protein-coding gene gene with protein product 605708 10526156, 9205841 Standard NM_014784 Approved KIAA0380, GTRAP48, PDZ-RHOGEF uc001fqn.3 O15085 OTTHUMG00000041292 ENST00000368194.3:c.4230G>A 1.37:g.156907251C>T D3DVD0|Q5VY40|Q6PFW2 ENST00000368194.3 37 CCDS1163.1 ARHGEF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000098930.1 2.803857 0 -2 73 0 0 1 0 NM_198236 3 7.343873 26 0.103448 TTN 7273 broad.mit.edu hg19 2 179634804 179634804 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:179634804G>A ENST00000589042.1 - 36 8848 c.8624C>T c.(8623-8625)gCa>gTa p.A2875V TTN_ENST00000360870.5_Missense_Mutation_p.A2875V|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2829V|TTN_ENST00000359218.5_Missense_Mutation_p.A2829V|TTN_ENST00000591111.1_Missense_Mutation_p.A2875V|TTN_ENST00000342992.6_Missense_Mutation_p.A2875V|TTN_ENST00000460472.2_Missense_Mutation_p.A2829V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2613 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAACAGTTTTGCTTTGCATTC 0.458 0 151.0 142.0 145.0 2 179634804 2203 4300 6503 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.8624C>T 2.37:g.179634804G>A ENSP00000467141:p.Ala2875Val A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 ENST00000589042.1 37 CCDS59435.1 . . . . . . . . . . G 15.74 2.922487 0.52653 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870 T;T;T;T;T 0.68479 -0.33;-0.33;-0.33;-0.33;-0.33 6.06 6.06 0.98353 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . D 0.87220 0.6123 M 0.92268 3.29 0.46954 D 0.999265 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;D;D;D;D 0.87578 0.998;0.998;0.998;0.998;0.998 D 0.88851 0.3319 9 0.87932 D 0 . 20.6208 0.99490 0.0:0.0:1.0:0.0 . 2829;2829;2829;2875;2875 D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6 .;.;.;TITIN_HUMAN;. V 2875;2829;2829;2829;2829;2875 ENSP00000343764:A2875V;ENSP00000434586:A2829V;ENSP00000340554:A2829V;ENSP00000352154:A2829V;ENSP00000354117:A2875V ENSP00000340554:A2829V A - 2 0 TTN 179343049 1.000000 0.71417 0.972000 0.41901 0.768000 0.43524 9.476000 0.97823 2.882000 0.98803 0.655000 0.94253 GCA TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 100.735809 0 -4 117 0 0 1 0 NM_133378 34 100.739161 35 0.492754 FOXM1 2305 broad.mit.edu hg19 12 2973852 2973852 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:2973852C>T ENST00000342628.2 - 7 1200 c.1087G>A c.(1087-1089)Gca>Aca p.A363T FOXM1_ENST00000359843.3_Missense_Mutation_p.A363T|FOXM1_ENST00000361953.3_Missense_Mutation_p.A348T NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 363 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TACTAACGTGCGCCCAGGGGG 0.552 0 142.0 125.0 131.0 12 2973852 2203 4300 6503 SO:0001583 missense Y12773 CCDS8515.1, CCDS8516.1, CCDS8517.1 12p13 2007-09-18 ENSG00000111206 ENSG00000111206 """Forkhead boxes""" 3818 protein-coding gene gene with protein product """M-phase phosphoprotein 2""" 602341 FKHL16 9032290, 9441747 Standard NM_202002 Approved HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3 uc001qlf.3 Q08050 OTTHUMG00000168118 ENST00000361953.3:c.1042G>A 12.37:g.2973852C>T ENSP00000354492:p.Ala348Thr O43258|O43259|O43260|Q4ZGG7|Q9BRL2 ENST00000361953.3 37 CCDS8517.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 13.63|13.63 2.294084|2.294084 0.40594|0.40594 .|. .|. ENSG00000111206|ENSG00000111206 ENST00000342628;ENST00000361953;ENST00000359843|ENST00000535350 D;D;D|. 0.93426|. -3.14;-3.22;-3.15|. 4.73|4.73 2.9|2.9 0.33743|0.33743 .|. 0.421116|. 0.27393|. N|. 0.019561|. T|T 0.24431|0.24431 0.0592|0.0592 N|N 0.12182|0.12182 0.205|0.205 0.30685|0.30685 N|N 0.751927|0.751927 B;B;B;B;B|. 0.31077|. 0.056;0.099;0.093;0.099;0.307|. B;B;B;B;B|. 0.27380|. 0.015;0.019;0.034;0.019;0.079|. T|T 0.25257|0.25257 -1.0137|-1.0137 10|5 0.42905|. T|. 0.14|. .|. 8.0561|8.0561 0.30606|0.30606 0.0:0.8117:0.0:0.1883|0.0:0.8117:0.0:0.1883 .|. 347;363;348;363;363|. A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3|. .;.;.;FOXM1_HUMAN;.|. T|H 363;348;363|88 ENSP00000342307:A363T;ENSP00000354492:A348T;ENSP00000352901:A363T|. ENSP00000342307:A363T|. A|R -|- 1|2 0|0 FOXM1|FOXM1 2844113|2844113 0.815000|0.815000 0.29118|0.29118 1.000000|1.000000 0.80357|0.80357 0.605000|0.605000 0.37080|0.37080 0.332000|0.332000 0.19751|0.19751 0.598000|0.598000 0.29829|0.29829 0.462000|0.462000 0.41574|0.41574 GCA|CGC FOXM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398271.1 -7.862464 0 -3 92 0 0 1 0 NM_021953 4 7.657626 70 0.054054 LLGL2 3993 broad.mit.edu hg19 17 73569290 73569290 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:73569290C>T ENST00000392550.3 + 20 2773 c.2656C>T c.(2656-2658)Cgc>Tgc p.R886C LLGL2_ENST00000577200.1_Missense_Mutation_p.R886C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R886C NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 886 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GCCCCAGGTGCGCTACAGCTG 0.652 0 60.0 53.0 55.0 17 73569290 2203 4300 6503 SO:0001583 missense X87342 CCDS11725.1, CCDS32733.1, CCDS45776.1 17q25.1 2013-01-10 2001-11-28 ENSG00000073350 """WD repeat domain containing""" 6629 protein-coding gene gene with protein product """lethal giant larvae (Drosophila) homolog 2""" Standard XR_243659 Approved HGL uc002joh.3 Q6P1M3 ENST00000392550.3:c.2656C>T 17.37:g.73569290C>T ENSP00000376333:p.Arg886Cys Q14521|Q9BR62 ENST00000392550.3 37 CCDS32733.1 . . . . . . . . . . C 15.13 2.741877 0.49151 0.0 1.16E-4 ENSG00000073350 ENST00000167462;ENST00000392550;ENST00000545227 T;T 0.05199 3.48;3.59 4.63 4.63 0.57726 . 0.172598 0.51477 D 0.000089 T 0.24122 0.0584 M 0.72894 2.215 0.80722 D 1 D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0 D;P;D;D;P 0.67900 0.954;0.828;0.917;0.921;0.836 T 0.01042 -1.1471 10 0.72032 D 0.01 1.0738 17.7269 0.88367 0.0:1.0:0.0:0.0 . 513;875;875;886;886 B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3 .;.;.;.;L2GL2_HUMAN C 886;886;875 ENSP00000167462:R886C;ENSP00000376333:R886C ENSP00000167462:R886C R + 1 0 LLGL2 71080885 1.000000 0.71417 1.000000 0.80357 0.961000 0.63080 7.604000 0.82830 2.408000 0.81797 0.400000 0.26472 CGC LLGL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000447633.1 27.336539 0 -11 79 0 0 1 0 NM_004524 13 32.779405 52 0.200000 RAC2 5880 broad.mit.edu hg19 22 37628860 37628860 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:37628860G>A ENST00000249071.6 - 3 327 c.206C>T c.(205-207)cCg>cTg p.P69L RAC2_ENST00000405484.1_Missense_Mutation_p.P62L|RAC2_ENST00000406508.1_Missense_Mutation_p.P25L NM_002872.3 NP_002863.1 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 69 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 ATAGGAGAGCGGCCGGAGACG 0.592 0 87.0 61.0 70.0 22 37628860 2203 4300 6503 SO:0001583 missense M64595 CCDS13945.1 22q13.1 2014-09-17 ENSG00000128340 ENSG00000128340 """Endogenous ligands""" 9802 protein-coding gene gene with protein product 602049 2674130 Standard NM_002872 Approved EN-7 uc003arc.3 P15153 OTTHUMG00000150540 ENST00000405484.1:c.185C>T 22.37:g.37628860G>A ENSP00000385590:p.Pro62Leu Q9UDJ4 ENST00000405484.1 37 . . . . . . . . . . G 25.3 4.624131 0.87560 . . ENSG00000128340 ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619 T;T;T;T 0.71103 -0.54;-0.54;-0.54;-0.54 4.69 4.69 0.59074 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.87884 0.6290 M 0.93106 3.38 0.80722 D 1 D 0.67145 0.996 D 0.79784 0.993 D 0.91254 0.5031 10 0.87932 D 0 . 17.9764 0.89129 0.0:0.0:1.0:0.0 . 69 P15153 RAC2_HUMAN L 69;25;62;69 ENSP00000249071:P69L;ENSP00000385270:P25L;ENSP00000385590:P62L;ENSP00000403778:P69L ENSP00000249071:P69L P - 2 0 RAC2 35958806 1.000000 0.71417 0.935000 0.37517 0.847000 0.48162 9.617000 0.98361 2.301000 0.77427 0.462000 0.41574 CCG RAC2-007 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000318818.1 42.078279 0 12 31 0 0 1 0 13 42.163705 10 0.565217 ALPL 249 broad.mit.edu hg19 1 21903969 21903969 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:21903969C>T ENST00000374840.3 + 12 1653 c.1403C>T c.(1402-1404)gCg>gTg p.A468V ALPL_ENST00000425315.2_Missense_Mutation_p.A468V|ALPL_ENST00000540617.1_Missense_Mutation_p.A413V|ALPL_ENST00000374830.1_Missense_Mutation_p.A114V|ALPL_ENST00000539907.1_Missense_Mutation_p.A391V|ALPL_ENST00000374829.1_Missense_Mutation_p.A114V|ALPL_ENST00000374832.1_Missense_Mutation_p.A468V NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 468 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) GGCCCCATGGCGCACCTGCTG 0.677 0 48.0 45.0 46.0 1 21903969 2203 4297 6500 SO:0001583 missense BC021289 CCDS217.1, CCDS53274.1, CCDS53275.1 1p36.12 2008-02-05 ENSG00000162551 ENSG00000162551 438 protein-coding gene gene with protein product 171760 HOPS 3532105, 3446011 Standard NM_001127501 Approved TNSALP uc001bet.3 P05186 OTTHUMG00000002949 ENST00000374840.3:c.1403C>T 1.37:g.21903969C>T ENSP00000363973:p.Ala468Val A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0 ENST00000374840.3 37 CCDS217.1 . . . . . . . . . . c 32 5.190715 0.94923 . . ENSG00000162551 ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829 D;D;D;D;D;D;D 0.96802 -4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13 4.91 4.91 0.64330 Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1); 0.000000 0.85682 D 0.000000 D 0.98868 0.9617 H 0.97852 4.09 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.997;0.992;0.999 D 0.99260 1.0890 10 0.87932 D 0 0.79 15.6427 0.77020 0.0:1.0:0.0:0.0 . 391;416;468 B7Z387;B7Z1D1;P05186 .;.;PPBT_HUMAN V 391;413;468;468;468;114;114 ENSP00000437674:A391V;ENSP00000442672:A413V;ENSP00000363973:A468V;ENSP00000363965:A468V;ENSP00000394765:A468V;ENSP00000363963:A114V;ENSP00000363962:A114V ENSP00000363962:A114V A + 2 0 ALPL 21776556 1.000000 0.71417 0.956000 0.39512 0.920000 0.55202 7.228000 0.78079 2.565000 0.86533 0.556000 0.70494 GCG ALPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000008202.1 0.766218 0 -16 59 0 0 1 0 NM_000478 4 7.946457 39 0.093023 PCSK7 9159 broad.mit.edu hg19 11 117089817 117089817 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:117089817C>T ENST00000320934.3 - 11 2017 c.1387G>A c.(1387-1389)Ggt>Agt p.G463S PCSK7_ENST00000540028.1_Missense_Mutation_p.G104S NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 463 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) AGGCCGAAACCGTGCTGGTGG 0.597 0 70.0 56.0 60.0 11 117089817 2201 4296 6497 SO:0001583 missense U40623 CCDS8382.1 11q23-q24 2008-02-01 ENSG00000160613 ENSG00000160613 8748 protein-coding gene gene with protein product 604872 8615762, 9820811 Standard XM_006718938 Approved PC7, PC8, LPC, SPC7 uc001pqr.3 Q16549 OTTHUMG00000165640 ENST00000320934.3:c.1387G>A 11.37:g.117089817C>T ENSP00000325917:p.Gly463Ser B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57 ENST00000320934.3 37 CCDS8382.1 . . . . . . . . . . C 33 5.221747 0.95139 . . ENSG00000160613 ENST00000320934;ENST00000540028;ENST00000543900 D;D 0.97752 -4.52;-4.52 5.2 5.2 0.72013 Peptidase S8/S53, subtilisin/kexin/sedolisin (3); 0.000000 0.85682 D 0.000000 D 0.99248 0.9738 H 0.97707 4.06 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.98847 1.0757 10 0.87932 D 0 -17.8281 17.3108 0.87210 0.0:1.0:0.0:0.0 . 463 Q16549 PCSK7_HUMAN S 463;104;463 ENSP00000325917:G463S;ENSP00000441944:G104S ENSP00000325917:G463S G - 1 0 PCSK7 116595027 1.000000 0.71417 0.473000 0.27253 0.667000 0.39255 7.208000 0.77907 2.442000 0.82660 0.591000 0.81541 GGT PCSK7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385529.2 8.086884 0 -4 22 0 0 1 0 NM_004716 4 10.394433 19 0.173913 IGDCC3 9543 broad.mit.edu hg19 15 65622132 65622132 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:65622132G>A ENST00000327987.4 - 12 2180 c.1929C>T c.(1927-1929)atC>atT p.I643I NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 643 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGTGGATGCCGATGACGATGC 0.637 0 126.0 72.0 90.0 15 65622132 2201 4299 6500 SO:0001819 synonymous_variant AF063936 CCDS10205.1 15q22.3-q23 2013-02-11 2009-01-08 2009-01-08 ENSG00000174498 ENSG00000174498 """Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 9700 protein-coding gene gene with protein product 604184 """putative neuronal cell adhesion molecule""" PUNC 9922388 Standard NM_004884 Approved HsT18880 uc002aos.2 Q8IVU1 OTTHUMG00000133137 ENST00000327987.4:c.1929C>T 15.37:g.65622132G>A O95215 ENST00000327987.4 37 CCDS10205.1 IGDCC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256826.1 28.472851 0 -19 33 0 0 1 0 NM_004884 9 28.566046 12 0.428571 LPCAT1 79888 broad.mit.edu hg19 5 1501684 1501684 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:1501684C>T ENST00000283415.3 - 2 302 c.170G>A c.(169-171)cGg>cAg p.R57Q NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 57 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) AACCAGGAGCCGGACCGGGAA 0.662 0 42.0 50.0 47.0 5 1501684 2202 4300 6502 SO:0001583 missense BC020166 CCDS3864.1 5p15.33 2013-01-10 2007-12-17 2007-12-17 ENSG00000153395 ENSG00000153395 """EF-hand domain containing""" 25718 protein-coding gene gene with protein product 610472 """acyltransferase like 2""" AYTL2 8619474, 16704971 Standard NM_024830 Approved FLJ12443 uc003jcm.3 Q8NF37 OTTHUMG00000131017 ENST00000283415.3:c.170G>A 5.37:g.1501684C>T ENSP00000283415:p.Arg57Gln Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6 ENST00000283415.3 37 CCDS3864.1 . . . . . . . . . . C 17.59 3.426510 0.62733 . . ENSG00000153395 ENST00000283415 D 0.81499 -1.5 4.35 4.35 0.52113 . 0.000000 0.85682 D 0.000000 D 0.90511 0.7027 M 0.86268 2.805 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.92555 0.6053 10 0.87932 D 0 -29.7716 16.8769 0.86054 0.0:1.0:0.0:0.0 . 57 Q8NF37 PCAT1_HUMAN Q 57 ENSP00000283415:R57Q ENSP00000283415:R57Q R - 2 0 LPCAT1 1554684 1.000000 0.71417 0.990000 0.47175 0.047000 0.14425 6.984000 0.76186 1.970000 0.57323 0.491000 0.48974 CGG LPCAT1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000304032.1 28.148746 0 9 78 0 0 1 0 NM_024830 10 29.144593 22 0.312500 DHPS 1725 broad.mit.edu hg19 19 12790677 12790677 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:12790677C>T ENST00000210060.7 - 3 567 c.432G>A c.(430-432)gcG>gcA p.A144A DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Silent_p.A144A|DHPS_ENST00000594424.1_Silent_p.A102A NM_001930.3 NP_001921.1 P49366 DHYS_HUMAN deoxyhypusine synthase 144 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 AGTATGTGGGCGCCAGGCACT 0.597 0 69.0 69.0 69.0 19 12790677 2203 4300 6503 SO:0001819 synonymous_variant U79262 CCDS12276.1, CCDS12277.1, CCDS59354.1 19p13.2 2011-11-24 ENSG00000095059 ENSG00000095059 2869 protein-coding gene gene with protein product """migration-inducing gene 13""" 600944 7673224 Standard NM_001930 Approved MIG13 uc002muh.2 P49366 ENST00000210060.7:c.432G>A 19.37:g.12790677C>T A8K688|M0R1I5|Q13184|Q13276|Q9UDG0 ENST00000210060.7 37 CCDS12276.1 DHPS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000462708.1 2.974288 0 -16 44 0 0 1 0 NM_001930 4 8.608022 33 0.108108 APBA2 321 broad.mit.edu hg19 15 29406154 29406154 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:29406154G>A ENST00000558402.1 + 15 2712 c.2113G>A c.(2113-2115)Ggg>Agg p.G705R APBA2_ENST00000558259.1_Missense_Mutation_p.G705R|APBA2_ENST00000558330.1_Missense_Mutation_p.G693R|APBA2_ENST00000561069.1_Missense_Mutation_p.G705R|APBA2_ENST00000411764.1_Missense_Mutation_p.G693R Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 705 PDZ 2. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CGAGATCAACGGGCAGAGCGT 0.607 0 129.0 96.0 107.0 15 29406154 2203 4300 6503 SO:0001583 missense AB014719 CCDS10022.1, CCDS45197.1 15q11-q12 2008-07-18 2008-07-18 ENSG00000034053 ENSG00000034053 579 protein-coding gene gene with protein product 602712 """X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)""" X11L, MINT2 8955346 Standard NM_005503 Approved D15S1518E, LIN-10, MGC:14091, HsT16821 uc001zck.3 Q99767 OTTHUMG00000129255 ENST00000558402.1:c.2113G>A 15.37:g.29406154G>A ENSP00000453293:p.Gly705Arg E9PGI4|O60571|Q5XKC0 ENST00000558402.1 37 CCDS10022.1 . . . . . . . . . . G 28.7 4.944749 0.92593 . . ENSG00000034053 ENST00000411764;ENST00000219865 T 0.42513 0.97 4.36 4.36 0.52297 PDZ/DHR/GLGF (4); 0.178298 0.36268 N 0.002691 T 0.72211 0.3432 M 0.92122 3.275 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.976 T 0.81263 -0.1012 10 0.87932 D 0 . 15.8783 0.79182 0.0:0.0:1.0:0.0 . 693;705 E9PGI4;Q99767 .;APBA2_HUMAN R 693;705 ENSP00000409312:G693R ENSP00000219865:G705R G + 1 0 APBA2 27193446 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 9.620000 0.98373 1.959000 0.56917 0.462000 0.41574 GGG APBA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251362.3 -0.873159 0 18 63 0 0 1 0 NM_005503 3 6.775436 38 0.073171 BBOX1 8424 broad.mit.edu hg19 11 27148866 27148866 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:27148866C>T ENST00000263182.3 + 9 1398 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R344C|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.R344C|BBOX1_ENST00000528583.1_Missense_Mutation_p.R344C NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 344 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 TGATAACTGGCGCTTACTTCA 0.403 0 117.0 104.0 109.0 11 27148866 2202 4299 6501 SO:0001583 missense AF082868 CCDS7862.1 11p 2008-02-01 ENSG00000129151 ENSG00000129151 964 protein-coding gene gene with protein product 603312 BBOX 9753662 Standard XM_005253159 Approved gamma-BBH, G-BBH, BBH uc001mre.1 O75936 OTTHUMG00000166121 ENST00000529202.1:c.1030C>T 11.37:g.27148866C>T ENSP00000435781:p.Arg344Cys B2R8L7|D3DQZ1|Q6IBJ2 ENST00000529202.1 37 CCDS7862.1 . . . . . . . . . . C 28.1 4.887968 0.91814 . . ENSG00000129151 ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090 D;D;D;D 0.85629 -2.01;-2.01;-2.01;-2.01 5.88 5.88 0.94601 . 0.000000 0.85682 D 0.000000 D 0.94282 0.8163 M 0.91510 3.215 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.94861 0.8022 10 0.87932 D 0 . 18.7825 0.91939 0.0:1.0:0.0:0.0 . 344 O75936 BODG_HUMAN C 344 ENSP00000435781:R344C;ENSP00000263182:R344C;ENSP00000434918:R344C;ENSP00000433772:R344C ENSP00000263182:R344C R + 1 0 BBOX1 27105442 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 6.835000 0.75344 2.780000 0.95670 0.655000 0.94253 CGC BBOX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387946.1 33.718054 0 10 82 0 0 1 0 NM_003986 14 37.441138 45 0.237288 ZFP1 162239 broad.mit.edu hg19 16 75203964 75203964 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:75203964C>T ENST00000393430.2 + 4 1080 c.956C>T c.(955-957)aCg>aTg p.T319M ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.T319M|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.T286M Q6P2D0 ZFP1_HUMAN ZFP1 zinc finger protein 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 12 AAGATTCACACGGGGGAGAAA 0.418 0 75.0 75.0 75.0 16 75203964 2198 4300 6498 SO:0001583 missense AK094761 CCDS10914.2 16q22.3 2013-01-08 2012-11-27 ENSG00000184517 ENSG00000184517 """Zinc fingers, C2H2-type"", ""-""" 23328 protein-coding gene gene with protein product """zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1""" 2574853 Standard NM_153688 Approved FLJ34243, ZNF475 uc002fdo.3 Q6P2D0 OTTHUMG00000137602 ENST00000393430.2:c.956C>T 16.37:g.75203964C>T ENSP00000377080:p.Thr319Met A8K5Q7|B4DKG9|Q8N188|Q8N9F9 ENST00000393430.2 37 CCDS10914.2 . . . . . . . . . . C 16.28 3.077911 0.55753 . . ENSG00000184517 ENST00000332307;ENST00000393430 T 0.26373 1.74 4.42 4.42 0.53409 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.49916 D 0.000134 T 0.53786 0.1818 M 0.82716 2.605 0.80722 D 1 D 0.89917 1.0 D 0.80764 0.994 T 0.59979 -0.7352 10 0.87932 D 0 -18.9255 15.3445 0.74324 0.0:1.0:0.0:0.0 . 319 Q6P2D0 ZFP1_HUMAN M 319 ENSP00000377080:T319M ENSP00000333192:T319M T + 2 0 ZFP1 73761465 0.930000 0.31532 0.970000 0.41538 0.666000 0.39218 2.042000 0.41222 2.744000 0.94065 0.655000 0.94253 ACG ZFP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269013.2 60.085598 0 -10 60 0 0 1 0 NM_153688 20 60.985206 35 0.363636 SCN2A 6326 broad.mit.edu hg19 2 166210904 166210904 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:166210904C>T ENST00000375437.2 + 17 3412 c.3122C>T c.(3121-3123)cCg>cTg p.P1041L SCN2A_ENST00000375427.2_Missense_Mutation_p.P1041L|SCN2A_ENST00000283256.6_Missense_Mutation_p.P1041L|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1041L NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1041 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 GAAATTAAACCGCTTGAAGAT 0.338 0 66.0 72.0 70.0 2 166210904 2202 4300 6502 SO:0001583 missense AB208888 CCDS33313.1, CCDS33314.1 2q24.3 2012-02-26 2007-01-23 2007-01-23 ENSG00000136531 ENSG00000136531 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10588 protein-coding gene gene with protein product 182390 """sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide""" SCN2A1, SCN2A2 1317301, 16382098 Standard XM_005246753 Approved Nav1.2, HBSCII, HBSCI uc002ude.3 Q99250 OTTHUMG00000044172 ENST00000375437.2:c.3122C>T 2.37:g.166210904C>T ENSP00000364586:p.Pro1041Leu A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0 ENST00000375437.2 37 CCDS33314.1 . . . . . . . . . . C 14.66 2.602897 0.46423 . . ENSG00000136531 ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427 D;D;D;D 0.83673 -1.75;-1.75;-1.75;-1.75 5.5 5.5 0.81552 Sodium ion transport-associated (1); 1.448160 0.04529 N 0.386002 D 0.83811 0.5335 M 0.63428 1.95 0.58432 D 0.999999 B;P 0.34826 0.008;0.471 B;B 0.32624 0.006;0.149 T 0.70995 -0.4720 10 0.56958 D 0.05 . 14.2513 0.66021 0.1491:0.8509:0.0:0.0 . 1041;1041 Q99250-2;Q99250 .;SCN2A_HUMAN L 1041 ENSP00000364586:P1041L;ENSP00000349973:P1041L;ENSP00000283256:P1041L;ENSP00000364576:P1041L ENSP00000283256:P1041L P + 2 0 SCN2A 165919150 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 4.659000 0.61504 2.563000 0.86464 0.591000 0.81541 CCG SCN2A-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000102659.2 14.398858 0 6 64 0 0 1 0 NM_021007 7 18.822936 35 0.166667 GPA33 10223 broad.mit.edu hg19 1 167024307 167024307 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:167024307C>T ENST00000367868.3 - 6 1076 c.733G>A c.(733-735)Gtg>Atg p.V245M GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 245 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GCTGCAACCACGCCCACCGCG 0.577 0 123.0 95.0 105.0 1 167024307 2203 4300 6503 SO:0001583 missense U79725 CCDS1258.1 1q24.1 2013-01-29 ENSG00000143167 ENSG00000143167 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 4445 protein-coding gene gene with protein product 602171 9012807, 9245713 Standard NM_005814 Approved A33 uc001gea.1 Q99795 OTTHUMG00000034435 ENST00000367868.3:c.733G>A 1.37:g.167024307C>T ENSP00000356842:p.Val245Met Q5VZP6 ENST00000367868.3 37 CCDS1258.1 . . . . . . . . . . C 8.157 0.788591 0.16258 . . ENSG00000143167 ENST00000367868 T 0.39056 1.1 4.76 1.63 0.23807 . 0.559233 0.17383 N 0.176258 T 0.18002 0.0432 M 0.81497 2.545 0.09310 N 1 P 0.38711 0.643 B 0.23150 0.044 T 0.08146 -1.0736 10 0.54805 T 0.06 . 6.5687 0.22527 0.0:0.5217:0.3778:0.1005 . 245 Q99795 GPA33_HUMAN M 245 ENSP00000356842:V245M ENSP00000356842:V245M V - 1 0 GPA33 165290931 0.000000 0.05858 0.005000 0.12908 0.342000 0.28953 0.144000 0.16135 0.425000 0.26087 -0.234000 0.12200 GTG GPA33-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083245.1 16.240921 0 6 52 0 0 1 0 NM_005814 6 17.264748 16 0.272727 LRP2 4036 broad.mit.edu hg19 2 170012798 170012798 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:170012798C>T ENST00000263816.3 - 65 12422 c.12137G>A c.(12136-12138)cGa>cAa p.R4046Q NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4046 EGF-like 15; calcium-binding (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) AGCTGCACATCGTTTTCCAGG 0.438 0 166.0 155.0 159.0 2 170012798 2203 4300 6503 SO:0001583 missense CCDS2232.1 2q31.1 2013-05-28 2010-01-26 ENSG00000081479 ENSG00000081479 """Low density lipoprotein receptors""" 6694 protein-coding gene gene with protein product """megalin""" 600073 7959795 Standard NM_004525 Approved gp330, DBS uc002ues.3 P98164 OTTHUMG00000132179 ENST00000263816.3:c.12137G>A 2.37:g.170012798C>T ENSP00000263816:p.Arg4046Gln O00711|Q16215 ENST00000263816.3 37 CCDS2232.1 . . . . . . . . . . C 8.986 0.976503 0.18736 . . ENSG00000081479 ENST00000263816 D 0.89196 -2.48 5.77 3.61 0.41365 Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); 0.168923 0.52532 N 0.000062 T 0.73313 0.3571 N 0.14661 0.345 0.80722 D 1 B 0.26041 0.14 B 0.20384 0.029 T 0.64228 -0.6457 10 0.13470 T 0.59 . 4.4745 0.11729 0.0:0.5775:0.0:0.4225 . 4046 P98164 LRP2_HUMAN Q 4046 ENSP00000263816:R4046Q ENSP00000263816:R4046Q R - 2 0 LRP2 169721044 0.989000 0.36119 0.832000 0.32986 0.321000 0.28281 2.561000 0.45905 1.571000 0.49722 0.655000 0.94253 CGA LRP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255231.2 6.050122 0 -5 98 0 0 1 0 NM_004525 7 15.065544 54 0.114754 RADIL 55698 broad.mit.edu hg19 7 4917502 4917502 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:4917502C>T ENST00000399583.3 - 2 456 c.269G>A c.(268-270)cGt>cAt p.R90H RADIL_ENST00000536091.1_Missense_Mutation_p.R90H NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 90 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CACCAGCTCACGGGCGCTGGA 0.677 0 22.0 27.0 26.0 7 4917502 2003 4126 6129 SO:0001583 missense AB058752 CCDS43544.1 7p22.1 2010-08-27 ENSG00000157927 ENSG00000157927 22226 protein-coding gene gene with protein product 611491 16051602, 17704304 Standard NM_018059 Approved FLJ10324, KIAA1849, RASIP2 uc003snj.1 Q96JH8 OTTHUMG00000151753 ENST00000399583.3:c.269G>A 7.37:g.4917502C>T ENSP00000382492:p.Arg90His A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4 ENST00000399583.3 37 CCDS43544.1 . . . . . . . . . . C 12.88 2.071178 0.36566 2.5E-4 0.0 ENSG00000157927 ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174 T;T;T 0.18960 2.18;2.18;2.18 5.83 -4.73 0.03259 Ras-association (3); 0.676927 0.14831 N 0.295865 T 0.12475 0.0303 L 0.35854 1.095 0.20196 N 0.999926 B 0.26775 0.159 B 0.15870 0.014 T 0.12967 -1.0527 10 0.45353 T 0.12 -12.2738 9.556 0.39339 0.0872:0.2855:0.0:0.6273 . 90 Q96JH8 RADIL_HUMAN H 90;64;90;90 ENSP00000382492:R90H;ENSP00000442533:R90H;ENSP00000398057:R90H ENSP00000320946:R64H R - 2 0 RADIL 4884028 0.042000 0.20092 0.777000 0.31699 0.586000 0.36452 -0.269000 0.08596 -0.651000 0.05415 -0.378000 0.06908 CGT RADIL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323769.2 34.591729 0 3 42 0 0 1 0 NM_018059 12 34.716906 16 0.428571 MYO3B 140469 broad.mit.edu hg19 2 171371513 171371513 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:171371513C>T ENST00000334231.6 + 29 3480 c.3480C>T c.(3478-3480)agC>agT p.S1160S MYO3B_ENST00000409044.3_Silent_p.S1124S|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.S1151S Q8WXR4 MYO3B_HUMAN myosin IIIB 1151 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 AAGACTGCAGCGAGCCTGGTG 0.507 0 79.0 80.0 80.0 2 171371513 1930 4135 6065 SO:0001819 synonymous_variant CCDS42773.1, CCDS46446.1 2q31.1-q31.2 2011-09-27 ENSG00000071909 ENSG00000071909 """Myosins / Myosin superfamily : Class III""" 15576 protein-coding gene gene with protein product 610040 Standard NM_001083615 Approved uc002ufy.3 Q8WXR4 OTTHUMG00000154002 ENST00000408978.4:c.3453C>T 2.37:g.171371513C>T B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94 ENST00000408978.4 37 CCDS42773.1 MYO3B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000333410.1 10.157354 0 2 29 0 0 1 0 5 13.097255 24 0.172414 HRASLS5 117245 broad.mit.edu hg19 11 63257788 63257788 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:63257788C>T ENST00000540857.1 - 2 298 c.166G>A c.(166-168)Gca>Aca p.A56T HRASLS5_ENST00000301790.4_Missense_Mutation_p.A66T|HRASLS5_ENST00000539221.1_Missense_Mutation_p.A66T NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 66 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 ACCAACGCTGCGAATCCCACG 0.537 1 167.0 184.0 178.0 11 63257788 2201 4298 6499 SO:0001583 missense AJ416558 CCDS8044.1, CCDS53646.1, CCDS53647.1 11q13.2 2006-08-16 ENSG00000168004 ENSG00000168004 24978 protein-coding gene gene with protein product 611474 Standard NM_001146729 Approved HRLP5 uc001nwy.2 Q96KN8 OTTHUMG00000167806 ENST00000539221.1:c.196G>A 11.37:g.63257788C>T ENSP00000443873:p.Ala66Thr B7X6T1|F5GZ87|F5H4Y9 ENST00000539221.1 37 CCDS53647.1 . . . . . . . . . . C 12.07 1.827867 0.32329 . . ENSG00000168004 ENST00000540857;ENST00000539221;ENST00000301790 T;T;T 0.28454 1.61;2.11;1.62 3.89 1.98 0.26296 . 3.704160 0.00868 N 0.001990 T 0.23727 0.0574 N 0.24115 0.695 0.09310 N 1 B;B;B 0.33904 0.431;0.431;0.305 B;B;B 0.26770 0.073;0.037;0.033 T 0.34254 -0.9836 10 0.56958 D 0.05 -9.0494 10.3308 0.43820 0.0:0.4139:0.5861:0.0 . 66;56;66 F5GZ87;F5H4Y9;Q96KN8 .;.;HRSL5_HUMAN T 56;66;66 ENSP00000444809:A56T;ENSP00000443873:A66T;ENSP00000301790:A66T ENSP00000301790:A66T A - 1 0 HRASLS5 63014364 0.002000 0.14202 0.004000 0.12327 0.023000 0.10783 0.629000 0.24538 0.598000 0.29829 -0.165000 0.13383 GCA HRASLS5-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000396374.1 89.726544 0 -48 216 0 0 1 0 NM_054108 39 103.065165 141 0.216667 ANKRD2 26287 broad.mit.edu hg19 10 99343422 99343422 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:99343422C>T ENST00000307518.5 + 9 1290 c.1023C>T c.(1021-1023)aaC>aaT p.N341N ANKRD2_ENST00000298808.5_Silent_p.N308N|ANKRD2_ENST00000370655.1_Silent_p.N314N|ANKRD2_ENST00000455090.1_Silent_p.N281N Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 (stretch responsive muscle) 341 muscle contraction|muscle organ development structural constituent of muscle breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) CTGAGCATAACGGGCTGGAGG 0.677 0 25.0 22.0 23.0 10 99343422 2196 4299 6495 SO:0001819 synonymous_variant AJ304805 CCDS7466.1, CCDS44468.1 10q23 2013-01-10 ENSG00000165887 ENSG00000165887 """Ankyrin repeat domain containing""" 495 protein-coding gene gene with protein product 610734 10873377, 15136035, 15677738 Standard NM_001129981 Approved ARPP uc001knw.3 Q9GZV1 OTTHUMG00000018860 ENST00000370655.1:c.942C>T 10.37:g.99343422C>T Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9 ENST00000370655.1 37 ANKRD2-001 KNOWN basic protein_coding protein_coding OTTHUMT00000049728.1 7.318175 0 -7 11 0 0 1 0 3 8.181745 10 0.230769 GNAQ 2776 broad.mit.edu hg19 9 80412493 80412493 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:80412493C>T ENST00000286548.4 - 4 770 c.548G>A c.(547-549)cGa>cAa p.R183Q GNAQ_ENST00000397476.3_5'UTR NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 183 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 GGTGGGGACTCGAACTCTAAG 0.468 9 154.0 118.0 130.0 9 80412493 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.548G>A 9.37:g.80412493C>T ENSP00000286548:p.Arg183Gln O15108|Q13462|Q6NT27|Q92471|Q9BZB9 ENST00000286548.4 37 CCDS6658.1 . . . . . . . . . . C 37 6.263420 0.97421 . . ENSG00000156052 ENST00000286548;ENST00000411677 D;D 0.91740 -2.9;-2.9 5.88 5.88 0.94601 G protein alpha subunit, helical insertion (1); 0.000000 0.85682 D 0.000000 D 0.97498 0.9181 H 0.96547 3.84 0.80722 D 1 D 0.76494 0.999 D 0.65573 0.936 D 0.98057 1.0391 10 0.87932 D 0 . 20.2279 0.98344 0.0:1.0:0.0:0.0 . 183 P50148 GNAQ_HUMAN Q 183;154 ENSP00000286548:R183Q;ENSP00000391501:R154Q ENSP00000286548:R183Q R - 2 0 GNAQ 79602313 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.048000 0.71046 2.778000 0.95560 0.655000 0.94253 CGA GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052761.1 -2.042747 0 9 66 0 0 1 0 NM_002072 4 8.554581 52 0.071429 ERCC6L 54821 broad.mit.edu hg19 X 71427099 71427099 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:71427099G>A ENST00000373657.1 - 3 1751 c.1149C>T c.(1147-1149)atC>atT p.I383I PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.I506I Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 506 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) CTGTCCCATCGATTCGCAATG 0.373 0 109.0 100.0 103.0 X 71427099 2203 4300 6503 SO:0001819 synonymous_variant AK000112 CCDS35329.1 Xq13.1 2014-03-07 2014-03-07 ENSG00000186871 ENSG00000186871 20794 protein-coding gene gene with protein product """PLK1-interacting checkpoint helicase""" 300687 """excision repair cross-complementing rodent repair deficiency, complementation group 6-like""" 17218258 Standard NM_017669 Approved FLJ20105, PICH, RAD26L uc004eaq.1 Q2NKX8 OTTHUMG00000021810 ENST00000373657.1:c.1149C>T X.37:g.71427099G>A Q8NCI1|Q96H93|Q9NXQ8 ENST00000373657.1 37 ERCC6L-001 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000057173.1 52.258273 0 -2 140 0 0 1 0 NM_017669 20 56.631957 59 0.253165 TECTA 7007 broad.mit.edu hg19 11 121000772 121000772 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:121000772C>T ENST00000392793.1 + 10 3064 c.2793C>T c.(2791-2793)aaC>aaT p.N931N TECTA_ENST00000264037.2_Silent_p.N931N O75443 TECTA_HUMAN tectorin alpha 931 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGGTGGTGAACGTCACTGCCT 0.587 0 72.0 69.0 70.0 11 121000772 2203 4299 6502 SO:0001819 synonymous_variant AF055136 CCDS8434.1 11q22-q24 2008-02-05 ENSG00000109927 ENSG00000109927 11720 protein-coding gene gene with protein product 602574 DFNA12, DFNA8, DFNB21 9503015, 9590290 Standard NM_005422 Approved uc010rzo.2 O75443 OTTHUMG00000149908 ENST00000392793.1:c.2793C>T 11.37:g.121000772C>T ENST00000392793.1 37 CCDS8434.1 TECTA-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313850.1 28.019489 0 7 89 0 0 1 0 NM_005422 11 30.165176 31 0.261905 CASC3 22794 broad.mit.edu hg19 17 38320407 38320407 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:38320407C>T ENST00000264645.7 + 7 1685 c.1459C>T c.(1459-1461)Cgg>Tgg p.R487W NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 487 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CCTGCAACCACGGGAACTTCG 0.493 0 32.0 30.0 31.0 17 38320407 2203 4300 6503 SO:0001583 missense X80199 CCDS11362.1 17q21.1 2012-09-20 ENSG00000108349 ENSG00000108349 17040 protein-coding gene gene with protein product 606504 7490069, 18332872 Standard NM_007359 Approved MLN51, BTZ uc002hue.3 O15234 OTTHUMG00000133323 ENST00000264645.7:c.1459C>T 17.37:g.38320407C>T ENSP00000264645:p.Arg487Trp A8K8R0 ENST00000264645.7 37 CCDS11362.1 . . . . . . . . . . C 10.33 1.320969 0.23994 . . ENSG00000108349 ENST00000264645;ENST00000418132;ENST00000394114 . . . 5.08 4.06 0.47325 . 0.094683 0.46758 D 0.000274 T 0.60689 0.2288 N 0.14661 0.345 0.44946 D 0.997969 D;D 0.89917 1.0;1.0 D;D 0.77557 0.99;0.99 T 0.67964 -0.5534 9 0.87932 D 0 -14.6551 15.8446 0.78876 0.1447:0.8553:0.0:0.0 . 487;487 B4DKR6;O15234 .;CASC3_HUMAN W 487 . ENSP00000264645:R487W R + 1 2 CASC3 35573933 0.998000 0.40836 0.983000 0.44433 0.930000 0.56654 3.419000 0.52728 2.648000 0.89879 0.563000 0.77884 CGG CASC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257127.3 12.398752 0 11 28 0 0 1 0 NM_007359 4 12.485969 6 0.400000 HTR2B 3357 broad.mit.edu hg19 2 231973446 231973446 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:231973446G>A ENST00000258400.3 - 4 1743 c.1231C>T c.(1231-1233)Cgc>Tgc p.R411C PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 411 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) TTACTGGAGCGTTTTCTGAGA 0.428 0 135.0 133.0 133.0 2 231973446 2203 4300 6503 SO:0001583 missense CCDS2483.1 2q36.3-q37.1 2012-08-08 2012-02-03 ENSG00000135914 ENSG00000135914 """5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only""" 5294 protein-coding gene gene with protein product 601122 """5-hydroxytryptamine (serotonin) receptor 2B""" 8143856 Standard NM_000867 Approved 5-HT(2B), 5-HT2B uc002vro.3 P41595 OTTHUMG00000133222 ENST00000258400.3:c.1231C>T 2.37:g.231973446G>A ENSP00000258400:p.Arg411Cys B2R9D5|Q53TI1|Q62221|Q6P523 ENST00000258400.3 37 CCDS2483.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 2.320 -0.355782 0.05138 . . ENSG00000135914 ENST00000258400 T 0.62498 0.02 5.9 0.692 0.18050 . 0.474985 0.25321 N 0.031519 T 0.20536 0.0494 N 0.00197 -1.87 0.34176 D 0.670379 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.10520 -1.0626 10 0.36615 T 0.2 . 6.7167 0.23308 0.6341:0.1135:0.2524:0.0 . 226;411 B3VRC5;P41595 .;5HT2B_HUMAN C 411 ENSP00000258400:R411C ENSP00000258400:R411C R - 1 0 HTR2B 231681690 0.305000 0.24481 0.083000 0.20561 0.019000 0.09904 1.592000 0.36676 -0.100000 0.12241 -0.781000 0.03364 CGC HTR2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256957.2 52.538002 0 -29 74 0 0 1 0 NM_000867 18 53.295677 31 0.367347 APOA4 337 broad.mit.edu hg19 11 116691776 116691776 + Missense_Mutation SNP G G A rs113263292 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:116691776G>A ENST00000357780.3 - 3 1112 c.998C>T c.(997-999)gCg>gTg p.A333V NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CACGTCCCCCGCATGGGGGCC 0.587 0 70.0 66.0 67.0 11 116691776 2201 4292 6493 SO:0001583 missense CCDS31681.1 11q23.3 2013-01-24 ENSG00000110244 ENSG00000110244 """Apolipoproteins""" 602 protein-coding gene gene with protein product 107690 Standard NM_000482 Approved uc001pps.1 P06727 OTTHUMG00000046110 ENST00000357780.3:c.998C>T 11.37:g.116691776G>A ENSP00000350425:p.Ala333Val A8MSL6|Q14CW8|Q6Q787 ENST00000357780.3 37 CCDS31681.1 . . . . . . . . . . G 19.79 3.893194 0.72524 . . ENSG00000110244 ENST00000357780 T 0.77620 -1.11 5.39 5.39 0.77823 Apolipoprotein/apolipophorin (1); 0.922519 0.09103 N 0.848216 D 0.86822 0.6025 M 0.87180 2.865 0.20196 N 0.999928 D 0.55385 0.971 P 0.49192 0.602 T 0.80358 -0.1416 10 0.62326 D 0.03 -17.4676 18.7213 0.91694 0.0:0.0:1.0:0.0 . 333 P06727 APOA4_HUMAN V 333 ENSP00000350425:A333V ENSP00000350425:A333V A - 2 0 APOA4 116196986 0.066000 0.20996 0.812000 0.32479 0.461000 0.32589 2.435000 0.44811 2.522000 0.85027 0.557000 0.71058 GCG APOA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106279.2 28.405043 0 -46 75 0 0 1 0 NM_000482 11 30.560016 31 0.261905 GLTSCR1 29998 broad.mit.edu hg19 19 48204593 48204593 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:48204593G>A ENST00000396720.3 + 15 3798 c.3604G>A c.(3604-3606)Gtg>Atg p.V1202M CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1202 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) AGACGAGTACGTGTCTTCCTC 0.662 0 17.0 21.0 20.0 19 48204593 2019 4142 6161 SO:0001583 missense AF182077 CCDS46134.1 19q13.3 2012-11-29 ENSG00000063169 ENSG00000063169 4332 protein-coding gene gene with protein product 605690 10708517 Standard NM_015711 Approved uc002phh.4 Q9NZM4 ENST00000396720.3:c.3604G>A 19.37:g.48204593G>A ENSP00000379946:p.Val1202Met A8MW01 ENST00000396720.3 37 CCDS46134.1 . . . . . . . . . . G 9.263 1.043815 0.19748 . . ENSG00000063169 ENST00000396720 T 0.35789 1.29 3.58 3.58 0.41010 . . . . . T 0.49695 0.1572 L 0.36672 1.1 0.32700 N 0.513025 D 0.89917 1.0 D 0.87578 0.998 T 0.61347 -0.7081 9 0.72032 D 0.01 . 14.1173 0.65161 0.0:0.0:1.0:0.0 . 1202 Q9NZM4 GSCR1_HUMAN M 1202 ENSP00000379946:V1202M ENSP00000379946:V1202M V + 1 0 GLTSCR1 52896405 1.000000 0.71417 0.988000 0.46212 0.059000 0.15707 3.698000 0.54771 1.834000 0.53371 0.462000 0.41574 GTG GLTSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465846.1 11.198627 0 3 24 0 0 1 0 NM_015711 4 11.198627 4 0.500000 TMEM45B 120224 broad.mit.edu hg19 11 129722455 129722455 + Silent SNP G G A rs145339290 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:129722455G>A ENST00000281441.3 + 2 166 c.78G>A c.(76-78)ccG>ccA p.P26P TMEM45B_ENST00000524567.1_Silent_p.P26P NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 26 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) TGAAGTACCCGCTGAAGTACT 0.498 0 143.0 128.0 133.0 11 129722455 2201 4297 6498 SO:0001819 synonymous_variant AK098106 CCDS8482.1 11q24.3 2008-02-05 ENSG00000151715 25194 protein-coding gene gene with protein product 12477932 Standard NM_138788 Approved BC016153, FLJ40787 uc001qfe.1 Q96B21 ENST00000524567.1:c.78G>A 11.37:g.129722455G>A A8K2L8 ENST00000524567.1 37 CCDS8482.1 TMEM45B-002 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000386062.1 121.544170 0 -4 114 0 0 1 0 NM_138788 41 122.736521 65 0.386792 ARHGEF17 9828 broad.mit.edu hg19 11 73021350 73021350 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:73021350G>A ENST00000263674.3 + 1 2017 c.1667G>A c.(1666-1668)cGc>cAc p.R556H NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 556 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CCCATGGCCCGCCGCCTGCCC 0.657 0 40.0 44.0 42.0 11 73021350 2200 4292 6492 SO:0001583 missense AF378754 CCDS8221.1 11q13.3 2011-11-16 ENSG00000110237 ENSG00000110237 """Rho guanine nucleotide exchange factors""" 21726 protein-coding gene gene with protein product """Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4""" 11559528, 12071859 Standard NM_014786 Approved TEM4, KIAA0337, p164-RhoGEF uc001otu.3 Q96PE2 OTTHUMG00000167971 ENST00000263674.3:c.1667G>A 11.37:g.73021350G>A ENSP00000263674:p.Arg556His B2RP20|Q86XU2|Q8N2S0|Q9Y4G3 ENST00000263674.3 37 CCDS8221.1 . . . . . . . . . . G 11.92 1.781588 0.31502 2.27E-4 0.0 ENSG00000110237 ENST00000263674 T 0.60920 0.15 4.62 3.71 0.42584 . 0.239416 0.34268 N 0.004104 T 0.41627 0.1167 L 0.27053 0.805 0.09310 N 1 B 0.14012 0.009 B 0.08055 0.003 T 0.39820 -0.9595 10 0.87932 D 0 -4.1359 8.1662 0.31228 0.1846:0.0:0.8154:0.0 . 556 Q96PE2 ARHGH_HUMAN H 556 ENSP00000263674:R556H ENSP00000263674:R556H R + 2 0 ARHGEF17 72698998 0.834000 0.29399 0.677000 0.29947 0.446000 0.32137 4.087000 0.57671 1.159000 0.42565 -0.258000 0.10820 CGC ARHGEF17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000397365.1 7.785671 0 0 50 0 0 1 0 NM_014786 4 10.094310 19 0.173913 FOXP2 93986 broad.mit.edu hg19 7 114304409 114304409 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:114304409G>A ENST00000408937.3 + 17 2370 c.1996G>A c.(1996-1998)Gtc>Atc p.V666I FOXP2_ENST00000350908.4_Missense_Mutation_p.V641I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V549I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V658I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V456I|FOXP2_ENST00000393498.2_Missense_Mutation_p.V620I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.V641I NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 641 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 ACTGCAGGCCGTCCACGAAGA 0.483 0 91.0 82.0 85.0 7 114304409 2203 4300 6503 SO:0001583 missense U80741 CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1 7q31 2008-07-18 ENSG00000128573 ENSG00000128573 """Forkhead boxes""" 13875 protein-coding gene gene with protein product """trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44""" 605317 TNRC10, SPCH1 11586359, 9225980 Standard NM_014491 Approved CAGH44 uc003vgz.3 O15409 OTTHUMG00000023131 ENST00000393494.2:c.1921G>A 7.37:g.114304409G>A ENSP00000377132:p.Val641Ile A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74 ENST00000393494.2 37 CCDS5760.1 . . . . . . . . . . G 7.019 0.558337 0.13436 . . ENSG00000128573 ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491 D;D;D;D;D;D 0.91180 -2.52;-2.53;-2.53;-2.52;-2.59;-2.8 5.57 5.57 0.84162 . 0.180845 0.48286 D 0.000188 T 0.77844 0.4191 N 0.01874 -0.695 0.80722 D 1 B;B;B;B;B 0.25235 0.001;0.002;0.121;0.001;0.004 B;B;B;B;B 0.22152 0.001;0.001;0.038;0.001;0.002 T 0.74990 -0.3475 10 0.11794 T 0.64 . 19.5416 0.95277 0.0:0.0:1.0:0.0 . 640;658;456;641;666 B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4 .;.;.;FOXP2_HUMAN;. I 641;666;658;641;618;549;456 ENSP00000377132:V641I;ENSP00000386200:V666I;ENSP00000385069:V658I;ENSP00000265436:V641I;ENSP00000377129:V549I;ENSP00000377130:V456I ENSP00000265436:V641I V + 1 0 FOXP2 114091645 1.000000 0.71417 0.960000 0.40013 0.950000 0.60333 3.026000 0.49689 2.614000 0.88457 0.655000 0.94253 GTC FOXP2-014 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317366.1 62.997483 0 -15 45 0 0 1 0 NM_014491 20 63.018194 22 0.476190 PI4K2A 55361 broad.mit.edu hg19 10 99416154 99416154 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:99416154G>A ENST00000370631.3 + 3 806 c.749G>A c.(748-750)cGc>cAc p.R250H PI4K2A_ENST00000555577.1_Missense_Mutation_p.R220H|PI4K2A_ENST00000370649.3_Missense_Mutation_p.R220H NM_018425.2 NP_060895.1 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 250 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) CGGTTTAACCGCATCGGGCTA 0.498 0 74.0 69.0 71.0 10 99416154 2203 4300 6503 SO:0001583 missense AF070611 CCDS7469.1 10q24 2011-02-09 ENSG00000155252 ENSG00000155252 30031 protein-coding gene gene with protein product 609763 11244087, 11279162 Standard NM_018425 Approved PI4KII, DKFZP761G1923, PIK42A uc001kog.1 Q9BTU6 OTTHUMG00000018863 ENST00000370631.3:c.749G>A 10.37:g.99416154G>A ENSP00000359665:p.Arg250His D3DR59|Q9NSG8 ENST00000370631.3 37 CCDS7469.1 . . . . . . . . . . G 19.05 3.751536 0.69533 . . ENSG00000155252;ENSG00000155252;ENSG00000249967 ENST00000555577;ENST00000370631;ENST00000370649 T;T;T 0.77229 -1.08;-1.08;-1.08 4.39 4.39 0.52855 Phosphatidylinositol 3-/4-kinase, catalytic (1); 0.000000 0.85682 D 0.000000 D 0.89646 0.6775 M 0.88031 2.925 0.80722 D 1 D;P 0.89917 1.0;0.909 D;P 0.79784 0.993;0.48 D 0.91320 0.5081 10 0.56958 D 0.05 -11.2823 17.5611 0.87908 0.0:0.0:1.0:0.0 . 220;250 E9PAM4;Q9BTU6 .;P4K2A_HUMAN H 220;250;220 ENSP00000452243:R220H;ENSP00000359665:R250H;ENSP00000359683:R220H ENSP00000359665:R250H R + 2 0 PI4K2A;RP11-548K23.11 99406144 1.000000 0.71417 0.999000 0.59377 0.948000 0.59901 9.601000 0.98297 2.437000 0.82529 0.650000 0.86243 CGC PI4K2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049735.1 22.857722 0 5 62 0 0 1 0 NM_018425 9 24.902944 27 0.250000 DSCAML1 57453 broad.mit.edu hg19 11 117301699 117301699 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:117301699C>T ENST00000321322.6 - 32 5606 c.5605G>A c.(5605-5607)Gag>Aag p.E1869K DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1599K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1809 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCCAGCTCCTCGTAGGTGGAA 0.562 0 140.0 129.0 133.0 11 117301699 2201 4296 6497 SO:0001583 missense CCDS8384.1 11q22.2-q22.3 2013-02-11 ENSG00000177103 ENSG00000177103 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 14656 protein-coding gene gene with protein product 611782 11453658 Standard NM_020693 Approved KIAA1132 uc001prh.1 Q8TD84 OTTHUMG00000167071 ENST00000321322.6:c.5605G>A 11.37:g.117301699C>T ENSP00000315465:p.Glu1869Lys Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7 ENST00000321322.6 37 CCDS8384.1 . . . . . . . . . . C 34 5.401603 0.96030 . . ENSG00000177103 ENST00000527706;ENST00000321322;ENST00000446508 T;T 0.70282 -0.42;-0.47 5.04 5.04 0.67666 . . . . . T 0.77212 0.4097 L 0.27053 0.805 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.80317 -0.1433 9 0.87932 D 0 . 18.5658 0.91116 0.0:1.0:0.0:0.0 . 1809 Q8TD84 DSCL1_HUMAN K 1599;1869;1576 ENSP00000434335:E1599K;ENSP00000315465:E1869K ENSP00000315465:E1869K E - 1 0 DSCAML1 116806909 1.000000 0.71417 0.990000 0.47175 0.954000 0.61252 7.651000 0.83577 2.628000 0.89032 0.591000 0.81541 GAG DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392907.2 122.856198 0 -29 104 0 0 1 0 NM_020693 38 123.347053 26 0.593750 KRI1 65095 broad.mit.edu hg19 19 10671902 10671902 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:10671902G>A ENST00000312962.6 - 7 565 c.546C>T c.(544-546)ggC>ggT p.G182G KRI1_ENST00000361821.5_Silent_p.G178G|KRI1_ENST00000537964.1_5'UTR NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 182 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCTCCCCAGCGCCGTCCTCGT 0.642 0 75.0 74.0 74.0 19 10671902 2203 4300 6503 SO:0001819 synonymous_variant CCDS12242.1 19p13.2 2008-02-05 ENSG00000129347 ENSG00000129347 25769 protein-coding gene gene with protein product 12878157 Standard NM_023008 Approved FLJ12949 uc002moy.1 Q8N9T8 OTTHUMG00000150343 ENST00000312962.6:c.546C>T 19.37:g.10671902G>A Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978 ENST00000312962.6 37 CCDS12242.1 . . . . . . . . . . G 2.682 -0.275109 0.05679 . . ENSG00000129347 ENST00000543682 . . . 4.23 -8.47 0.00939 . . . . . T 0.44953 0.1318 . . . 0.38895 D 0.957201 . . . . . . T 0.53322 -0.8455 4 . . . -2.9809 6.5943 0.22664 0.2534:0.0837:0.5271:0.1357 . . . . V 120 . . A - 2 0 KRI1 10532902 0.000000 0.05858 0.002000 0.10522 0.397000 0.30659 -2.795000 0.00764 -3.223000 0.00211 -0.369000 0.07265 GCG KRI1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317705.1 -0.405859 0 -24 64 0 0 1 0 NM_023008 3 7.005850 37 0.075000 NEB 4703 broad.mit.edu hg19 2 152348986 152348986 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:152348986C>T ENST00000427231.2 - 177 24990 c.24788G>A c.(24787-24789)cGg>cAg p.R8263Q NEB_ENST00000509223.2_Missense_Mutation_p.R176Q|NEB_ENST00000397336.2_Missense_Mutation_p.R238Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000172853.10_Missense_Mutation_p.R6407Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.R8263Q|NEB_ENST00000409198.1_Missense_Mutation_p.R6407Q|NEB_ENST00000397345.3_Missense_Mutation_p.R8263Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8263Q NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 6573 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TATTTGTTTCCGGAAACTATC 0.483 0 84.0 87.0 86.0 2 152348986 1878 4113 5991 SO:0001583 missense X83957 CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1 2q22 2014-09-17 ENSG00000183091 ENSG00000183091 7720 protein-coding gene gene with protein product """nemaline myopathy type 2""" 161650 NEM2 10051637, 9359044 Standard NM_001164507 Approved NEB177D uc010fnx.3 P20929 OTTHUMG00000153784 ENST00000604864.1:c.24788G>A 2.37:g.152348986C>T ENSP00000474498:p.Arg8263Gln F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 ENST00000604864.1 37 CCDS54408.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 35|35 5.423854|5.423854 0.96111|0.96111 .|. .|. ENSG00000183091|ENSG00000183091 ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223 .|T;T;T;T;T;T;T .|0.46063 .|0.88;0.88;0.88;0.88;0.88;0.88;0.88 5.63|5.63 5.63|5.63 0.86233|0.86233 .|. .|0.176577 .|0.50627 .|D .|0.000120 T|T 0.59418|0.59418 0.2192|0.2192 L|L 0.46157|0.46157 1.445|1.445 0.80722|0.80722 D|D 1|1 .|D;D;P;D;P;D .|0.76494 .|0.999;0.996;0.9;0.999;0.95;0.995 .|D;D;B;D;B;D .|0.80764 .|0.994;0.939;0.362;0.948;0.316;0.935 T|T 0.52931|0.52931 -0.8509|-0.8509 5|10 .|0.35671 .|T .|0.21 .|. 19.2633|19.2633 0.93977|0.93977 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|176;238;176;6407;2745;8263 .|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5 .|.;.;.;NEBU_HUMAN;.;. R|Q 397;504|6407;8263;8263;2363;2745;6407;238;176 .|ENSP00000386259:R6407Q;ENSP00000380505:R8263Q;ENSP00000416578:R8263Q;ENSP00000410961:R2745Q;ENSP00000172853:R6407Q;ENSP00000380497:R238Q;ENSP00000427083:R176Q .|ENSP00000172853:R6407Q G|R -|- 1|2 0|0 NEB|NEB 152057232|152057232 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 7.651000|7.651000 0.83577|0.83577 2.639000|2.639000 0.89480|0.89480 0.655000|0.655000 0.94253|0.94253 GGA|CGG NEB-018 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000469063.1 33.925825 0 -33 75 0 0 1 0 NM_004543 14 38.777040 51 0.215385 PTPRU 10076 broad.mit.edu hg19 1 29638168 29638168 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:29638168G>A ENST00000356870.3 + 22 3097 c.2987G>A c.(2986-2988)cGg>cAg p.R996Q PTPRU_ENST00000428026.2_Missense_Mutation_p.R987Q|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R996Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R990Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R1000Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R996Q NM_133177.3 NP_573438.3 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1000 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) AAATGCTCACGGTACTGGCCG 0.617 0 95.0 88.0 90.0 1 29638168 2203 4300 6503 SO:0001583 missense U71075 CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1 1p35.3 2013-02-11 ENSG00000060656 ENSG00000060656 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing""" 9683 protein-coding gene gene with protein product """pi R-PTP-Psi""" 602454 8700514, 9434160 Standard NM_133178 Approved PTPRO, hPTP-J, PCP-2, FMI, PTP uc001bru.3 Q92729 OTTHUMG00000003699 ENST00000345512.3:c.2999G>A 1.37:g.29638168G>A ENSP00000334941:p.Arg1000Gln A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850 ENST00000345512.3 37 CCDS334.1 . . . . . . . . . . G 7.767 0.706569 0.15239 . . ENSG00000060656 ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170 T;T;T;T;T;T 0.27256 1.68;1.68;1.68;1.68;1.68;1.68 4.67 4.67 0.58626 Protein-tyrosine phosphatase, receptor/non-receptor type (3); 0.071954 0.56097 D 0.000038 T 0.04182 0.0116 N 0.00358 -1.6 0.39989 D 0.975012 P;P;P;P;P 0.46395 0.741;0.851;0.741;0.877;0.877 B;B;B;B;B 0.31614 0.081;0.081;0.081;0.133;0.133 T 0.26052 -1.0114 9 . . . . 6.6842 0.23136 0.1925:0.0:0.8075:0.0 . 987;996;990;996;1000 Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729 .;.;.;.;PTPRU_HUMAN Q 1000;990;996;996;987;996 ENSP00000334941:R1000Q;ENSP00000362884:R990Q;ENSP00000349333:R996Q;ENSP00000314987:R996Q;ENSP00000392332:R987Q;ENSP00000432906:R996Q . R + 2 0 PTPRU 29510755 1.000000 0.71417 0.987000 0.45799 0.685000 0.39939 7.439000 0.80444 2.592000 0.87571 0.591000 0.81541 CGG PTPRU-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000010447.1 75.696483 0 -27 76 0 0 1 0 24 75.798804 29 0.452830 OR5C1 392391 broad.mit.edu hg19 9 125551867 125551867 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:125551867C>T ENST00000373680.2 + 1 718 c.656C>T c.(655-657)aCg>aTg p.T219M NM_001001923.1 NP_001001923.1 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 TTAGCTATCACGGTGTCTTAT 0.597 0 85.0 80.0 82.0 9 125551867 2203 4300 6503 SO:0001583 missense AF399514 CCDS35131.1 9q34.2 2012-08-09 ENSG00000148215 ENSG00000148215 """GPCR / Class A : Olfactory receptors""" 8331 protein-coding gene gene with protein product OR5C2P Standard NM_001001923 Approved OR9-F, hRPK-465_F_21 uc011lzd.2 Q8NGR4 OTTHUMG00000020622 ENST00000373680.2:c.656C>T 9.37:g.125551867C>T ENSP00000362784:p.Thr219Met B2RN54|B9EGT0|Q96RC4 ENST00000373680.2 37 CCDS35131.1 . . . . . . . . . . C 3.407 -0.121022 0.06838 . . ENSG00000148215 ENST00000373680 T 0.00084 8.75 5.26 -1.88 0.07713 GPCR, rhodopsin-like superfamily (1); 0.215125 0.23211 U 0.050663 T 0.00073 0.0002 N 0.16066 0.365 0.09310 N 1 P 0.45594 0.862 B 0.36418 0.224 T 0.49762 -0.8905 10 0.56958 D 0.05 . 11.0123 0.47669 0.0:0.3217:0.0:0.6783 . 219 Q8NGR4 OR5C1_HUMAN M 219 ENSP00000362784:T219M ENSP00000362784:T219M T + 2 0 OR5C1 124591688 0.000000 0.05858 0.000000 0.03702 0.080000 0.17528 0.348000 0.20031 -0.590000 0.05866 0.655000 0.94253 ACG OR5C1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053953.1 56.913817 0 -13 59 0 0 1 0 19 57.545134 31 0.380000 SLC45A4 57210 hgsc.bcm.edu hg19 8 142227253 142227253 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 G G . . . . Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe TGACCCCGGCGTTGTAGGCTT 0.627 0 70.0 69.0 69.0 8 142227253 2203 4300 6503 SO:0001819 synonymous_variant AB032952 CCDS34948.1, CCDS69550.1, CCDS75795.1 8q24.3 2013-05-22 """Solute carriers""" 29196 protein-coding gene gene with protein product Standard NM_001080431 Approved KIAA1126 uc003ywd.1 Q5BKX6 ENST00000024061.3:c.1512C>T 8.37:g.142227253G>A Q6ZRI2|Q9ULU3 ENST00000024061.3 37 CCDS34948.1 SLC45A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378571.3 -1 67 XM_050325 15 28 ARSF 416 broad.mit.edu hg19 X 3002384 3002384 + Silent SNP C C T rs141924849 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:3002384C>T ENST00000381127.1 + 6 728 c.507C>T c.(505-507)ctC>ctT p.L169L ARSF_ENST00000359361.2_Silent_p.L169L|ARSF_ENST00000537104.1_Silent_p.L169L NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 169 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGTTCACTCTCGTTGACAGCT 0.532 0 146.0 111.0 123.0 X 3002384 2203 4300 6503 SO:0001819 synonymous_variant X97868 CCDS14123.1 Xp22.3 2013-02-14 ENSG00000062096 ENSG00000062096 """Arylsulfatase family""" 721 protein-coding gene gene with protein product 300003 7720070 Standard NM_004042 Approved uc022brz.1 P54793 OTTHUMG00000021081 ENST00000381127.1:c.507C>T X.37:g.3002384C>T Q8TCC5 ENST00000381127.1 37 CCDS14123.1 ARSF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055652.1 96.519665 0 0 77 0 0 1 0 31 96.634620 37 0.455882 CD93 22918 broad.mit.edu hg19 20 23065702 23065702 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:23065702G>A ENST00000246006.4 - 1 1275 c.1128C>T c.(1126-1128)ggC>ggT p.G376G NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 376 EGF-like 3; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CTCCAGGACCGCCCGGCTCAT 0.632 0 44.0 45.0 45.0 20 23065702 2203 4300 6503 SO:0001819 synonymous_variant U94333 CCDS13149.1 20p11.21 2009-01-29 2006-03-28 2006-02-22 ENSG00000125810 ENSG00000125810 """CD molecules""" 15855 protein-coding gene gene with protein product 120577 """matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen""" MXRA4, C1QR1 9047234, 10648005 Standard NM_012072 Approved C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3 uc002wsv.3 Q9NPY3 OTTHUMG00000032058 ENST00000246006.4:c.1128C>T 20.37:g.23065702G>A O00274 ENST00000246006.4 37 CCDS13149.1 CD93-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078312.2 2.003013 0 -21 30 0 0 1 0 NM_012072 3 6.544737 26 0.103448 BICD1 636 broad.mit.edu hg19 12 32480498 32480498 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:32480498G>A ENST00000548411.1 + 5 1290 c.1109G>A c.(1108-1110)cGg>cAg p.R370Q BICD1_ENST00000281474.5_Missense_Mutation_p.R370Q NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 370 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CGGGTGCACCGGCTCACAGAG 0.622 0 55.0 51.0 53.0 12 32480498 2203 4300 6503 SO:0001583 missense U90028 CCDS8726.1, CCDS44859.1 12p11.2-p11.1 2005-01-13 2001-11-28 ENSG00000151746 1049 protein-coding gene gene with protein product 602204 """Bicaudal D (Drosophila) homolog 1""" 9367685 Standard NM_001714 Approved uc001rku.3 Q96G01 OTTHUMG00000169307 ENST00000281474.5:c.1109G>A 12.37:g.32480498G>A ENSP00000281474:p.Arg370Gln A8K2C3|F8W113|O43892|O43893 ENST00000281474.5 37 CCDS8726.1 . . . . . . . . . . G 14.73 2.622932 0.46840 . . ENSG00000151746 ENST00000548411;ENST00000281474 T;T 0.44881 0.91;0.91 5.21 4.3 0.51218 . 0.061324 0.64402 D 0.000009 T 0.38825 0.1055 L 0.61036 1.89 0.80722 D 1 P;B 0.52577 0.954;0.035 B;B 0.39738 0.308;0.008 T 0.31971 -0.9924 10 0.27082 T 0.32 . 14.6784 0.68998 0.074:0.0:0.926:0.0 . 370;370 F8W113;Q96G01 .;BICD1_HUMAN Q 370 ENSP00000446793:R370Q;ENSP00000281474:R370Q ENSP00000281474:R370Q R + 2 0 BICD1 32371765 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.561000 0.60809 2.592000 0.87571 0.650000 0.86243 CGG BICD1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403380.1 18.146394 0 -9 29 0 0 1 0 NM_001714 6 18.365733 10 0.375000 DNAH17 8632 broad.mit.edu hg19 17 76421569 76421569 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:76421569C>T ENST00000389840.5 - 80 13192 c.13068G>A c.(13066-13068)acG>acA p.T4356T DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.T4328T dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCATGATGGCCGTGAGGAACG 0.597 0 71.0 69.0 70.0 17 76421569 2203 4300 6503 SO:0001819 synonymous_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 """Axonemal dyneins""" 2946 protein-coding gene gene with protein product 610063 """dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1""" DNAHL1 9545504 Standard NM_173628 Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.12984G>A 17.37:g.76421569C>T O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 ENST00000585328.1 37 DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding protein_coding OTTHUMT00000318962.2 39.437106 0 16 58 0 0 1 0 NM_173628 14 40.469779 28 0.333333 ESR1 2099 broad.mit.edu hg19 6 152332878 152332878 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:152332878C>T ENST00000440973.1 + 7 1554 c.1184C>T c.(1183-1185)tCc>tTc p.S395F ESR1_ENST00000456483.2_Missense_Mutation_p.S283F|ESR1_ENST00000427531.2_Missense_Mutation_p.S222F|ESR1_ENST00000443427.1_Missense_Mutation_p.S395F|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.S395F|ESR1_ENST00000338799.5_Missense_Mutation_p.S395F NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 395 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) GTCTGGCGCTCCATGGAGCAC 0.493 0 144.0 129.0 134.0 6 152332878 2203 4300 6503 SO:0001583 missense X03635 CCDS5234.1 6q24-q27 2013-01-16 ENSG00000091831 ENSG00000091831 """Nuclear hormone receptors""" 3467 protein-coding gene gene with protein product 133430 ESR 3754034 Standard NM_000125 Approved NR3A1, Era uc003qon.4 P03372 OTTHUMG00000016103 ENST00000206249.3:c.1184C>T 6.37:g.152332878C>T ENSP00000206249:p.Ser395Phe Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7 ENST00000206249.3 37 CCDS5234.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 29.4|29.4 4.999208|4.999208 0.93227|0.93227 .|. .|. ENSG00000091831|ENSG00000091831 ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488 .|D;D;D;D;D;D;D .|0.97378 .|-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36 5.42|5.42 5.42|5.42 0.78866|0.78866 .|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2); .|0.000000 .|0.85682 .|D .|0.000000 D|D 0.99080|0.99080 0.9684|0.9684 H|H 0.96489|0.96489 3.83|3.83 0.80722|0.80722 D|D 1|1 .|D;D;D;D;D;D .|0.89917 .|1.0;1.0;0.999;1.0;1.0;1.0 .|D;D;D;D;D;D .|0.91635 .|0.998;0.999;0.998;0.999;0.998;0.999 D|D 0.99421|0.99421 1.0933|1.0933 5|10 .|0.87932 .|D .|0 .|. 19.21|19.21 0.93749|0.93749 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|299;176;90;394;395;395 .|B0QYW6;E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372 .|.;.;.;.;.;ESR1_HUMAN S|F 300|395;395;283;176;395;395;323;222;68 .|ENSP00000405330:S395F;ENSP00000342630:S395F;ENSP00000415934:S283F;ENSP00000387500:S395F;ENSP00000206249:S395F;ENSP00000445454:S222F;ENSP00000401995:S68F .|ENSP00000206249:S395F P|S +|+ 1|2 0|0 ESR1|ESR1 152374571|152374571 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 7.487000|7.487000 0.81328|0.81328 2.541000|2.541000 0.85698|0.85698 0.591000|0.591000 0.81541|0.81541 CCA|TCC ESR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043308.1 149.420684 0 -23 119 0 0 1 0 47 149.440879 50 0.484536 SLC19A1 6573 broad.mit.edu hg19 21 46951857 46951857 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr21:46951857G>A ENST00000311124.4 - 3 547 c.395C>T c.(394-396)gCg>gTg p.A132V SLC19A1_ENST00000485649.2_Missense_Mutation_p.A92V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A132V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A132V NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 132 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) GGCGATGCGCGCGGCCATGGT 0.667 0 20.0 22.0 21.0 21 46951857 2193 4292 6485 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.395C>T 21.37:g.46951857G>A ENSP00000369347:p.Ala132Val B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8 ENST00000380010.4 37 CCDS56218.1 . . . . . . . . . . G 17.97 3.518952 0.64634 . . ENSG00000173638 ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742 D;D;D;D;D 0.89050 -2.46;-2.46;-2.46;-2.46;-2.46 4.95 4.95 0.65309 Major facilitator superfamily domain, general substrate transporter (1); 0.114089 0.56097 D 0.000022 D 0.95522 0.8545 M 0.91196 3.185 0.58432 D 0.999993 D;D;D;D 0.89917 1.0;0.998;0.998;0.994 D;P;P;P 0.72982 0.979;0.87;0.87;0.87 D 0.96378 0.9279 10 0.72032 D 0.01 -37.0548 17.1012 0.86651 0.0:0.0:1.0:0.0 . 92;154;132;132 B7Z8C3;D3DSM6;E9PFY4;P41440 .;.;.;S19A1_HUMAN V 132;132;92;132;132 ENSP00000308895:A132V;ENSP00000369347:A132V;ENSP00000441772:A92V;ENSP00000401850:A132V;ENSP00000411345:A132V ENSP00000308895:A132V A - 2 0 SLC19A1 45776285 1.000000 0.71417 0.076000 0.20297 0.002000 0.02628 7.113000 0.77095 2.460000 0.83146 0.462000 0.41574 GCG SLC19A1-002 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000206797.1 16.677804 0 -3 12 0 0 1 0 5 16.966272 2 0.714286 SNRNP25 79622 broad.mit.edu hg19 16 105487 105487 + Missense_Mutation SNP T T C TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:105487T>C ENST00000383018.3 + 2 259 c.98T>C c.(97-99)aTa>aCa p.I33T SNRNP25_ENST00000493672.1_3'UTR NM_024571.3 NP_078847.1 Q9BV90 SNR25_HUMAN small nuclear ribonucleoprotein 25kDa (U11/U12) 33 mRNA processing U12-type spliceosomal complex large_intestine(1)|lung(2) 3 AACTCCCAAATAGCCCTAGAA 0.498 0 205.0 179.0 188.0 16 105487 2203 4300 6503 SO:0001583 missense BC001381 CCDS10396.1 16p13.3 2011-10-11 2008-10-29 2008-10-29 ENSG00000161981 ENSG00000161981 14161 protein-coding gene gene with protein product """U11/U12 snRNP 25K""" """chromosome 16 open reading frame 33""" C16orf33 15146077 Standard NM_024571 Approved uc002cfj.4 Q9BV90 OTTHUMG00000060720 ENST00000383018.3:c.98T>C 16.37:g.105487T>C ENSP00000372482:p.Ile33Thr Q1W6H3|Q6IEF8|Q9H5W4 ENST00000383018.3 37 CCDS10396.1 . . . . . . . . . . . 13.46 2.242658 0.39598 . . ENSG00000161981 ENST00000293861;ENST00000383018;ENST00000417493 . . . 5.58 4.5 0.54988 . 0.051814 0.85682 D 0.000000 T 0.67924 0.2945 M 0.82323 2.585 0.49798 D 0.99982 D 0.63046 0.992 P 0.51657 0.676 T 0.71994 -0.4424 9 0.87932 D 0 -19.6039 10.0521 0.42221 0.0:0.0788:0.0:0.9212 . 33 Q9BV90 SNR25_HUMAN T 24;33;24 . ENSP00000293861:I24T I + 2 0 SNRNP25 45487 1.000000 0.71417 0.998000 0.56505 0.386000 0.30323 6.967000 0.76079 0.980000 0.38523 0.460000 0.39030 ATA SNRNP25-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding -5.631902 0 4 170 0 0 1 0 NM_024571 5 12.182110 82 0.057471 AZI1 22994 broad.mit.edu hg19 17 79193765 79193765 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:79193765C>T ENST00000269392.4 - 2 339 c.92G>A c.(91-93)cGg>cAg p.R31Q AZI1_ENST00000575907.1_Missense_Mutation_p.R31Q|AZI1_ENST00000450824.2_Missense_Mutation_p.R31Q|AZI1_ENST00000374782.3_Missense_Mutation_p.R31Q NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 31 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCCAGGACGCCGGGACACAGG 0.662 0 95.0 86.0 89.0 17 79193765 2203 4300 6503 SO:0001583 missense ENST00000450824.2:c.92G>A 17.37:g.79193765C>T ENSP00000393583:p.Arg31Gln A6NHI8|B2RN11|Q96F50 ENST00000450824.2 37 CCDS45808.1 . . . . . . . . . . C 11.06 1.526782 0.27299 2.27E-4 0.0 ENSG00000141577 ENST00000450824;ENST00000374782;ENST00000269392 T;T;T 0.23348 1.91;1.91;1.91 4.01 1.36 0.22044 . 0.633633 0.14040 N 0.345497 T 0.15003 0.0362 L 0.34521 1.04 0.27817 N 0.941921 B;B;B;B 0.29188 0.093;0.093;0.236;0.038 B;B;B;B 0.16722 0.011;0.011;0.016;0.008 T 0.18398 -1.0338 10 0.28530 T 0.3 -9.6986 6.4005 0.21636 0.0:0.5742:0.0:0.4258 . 31;31;31;31 B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2 .;AZI1_HUMAN;.;. Q 31 ENSP00000393583:R31Q;ENSP00000363914:R31Q;ENSP00000269392:R31Q ENSP00000269392:R31Q R - 2 0 AZI1 76808360 0.937000 0.31787 0.817000 0.32601 0.629000 0.37895 0.189000 0.17037 0.070000 0.16634 0.462000 0.41574 CGG AZI1-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000439201.1 96.149057 0 7 103 0 0 1 0 30 96.203002 34 0.468750 CUL7 9820 broad.mit.edu hg19 6 43010840 43010840 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:43010840C>T ENST00000535468.1 - 18 3772 c.3686G>A c.(3685-3687)cGc>cAc p.R1229H CUL7_ENST00000265348.3_Missense_Mutation_p.R1145H NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1145 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCGCCAACAGCGCGTCAGGTT 0.592 0 55.0 56.0 55.0 6 43010840 2203 4300 6503 SO:0001583 missense BC033647 CCDS4881.1, CCDS55003.1 6p21.1 2011-05-24 2004-03-22 2004-03-22 ENSG00000044090 ENSG00000044090 21024 protein-coding gene gene with protein product 609577 """KIAA0076""" KIAA0076 12481031, 12904573 Standard NM_014780 Approved dJ20C7.5 uc011dvb.2 Q14999 OTTHUMG00000014718 ENST00000265348.3:c.3434G>A 6.37:g.43010840C>T ENSP00000265348:p.Arg1145His B4DYZ0|F5H0L1|Q5T654 ENST00000265348.3 37 CCDS4881.1 . . . . . . . . . . C 20.6 4.024918 0.75390 . . ENSG00000044090 ENST00000265348;ENST00000535468 T;T 0.80123 -1.33;-1.34 5.61 4.63 0.57726 . 0.430196 0.28042 N 0.016821 T 0.61274 0.2334 L 0.45581 1.43 0.80722 D 1 B;P;B;B 0.34934 0.421;0.476;0.251;0.253 B;B;B;B 0.33392 0.034;0.057;0.163;0.117 T 0.67948 -0.5538 10 0.52906 T 0.07 -13.0531 6.9955 0.24780 0.0:0.7421:0.0:0.2579 . 1229;1145;1229;1145 F5H0L1;A8K9U1;B4DYZ0;Q14999 .;.;.;CUL7_HUMAN H 1145;1229 ENSP00000265348:R1145H;ENSP00000438788:R1229H ENSP00000265348:R1145H R - 2 0 CUL7 43118818 0.988000 0.35896 1.000000 0.80357 0.915000 0.54546 0.382000 0.20635 2.641000 0.89580 0.591000 0.81541 CGC CUL7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040575.1 26.871420 0 -3 56 0 0 1 0 NM_014780 12 29.780974 37 0.244898 EIF5A 1984 broad.mit.edu hg19 17 7213113 7213113 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:7213113C>T ENST00000336458.8 + 2 560 c.159C>T c.(157-159)caC>caT p.H53H EIF5A_ENST00000419711.2_Silent_p.H53H|EIF5A_ENST00000573542.1_Silent_p.H53H|EIF5A_ENST00000336452.7_Silent_p.H83H|EIF5A_ENST00000416016.2_Silent_p.H53H|EIF5A_ENST00000571955.1_Silent_p.H53H|EIF5A_ENST00000576930.1_Silent_p.H53H|EIF5A_ENST00000572815.1_Silent_p.H53H NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 53 DOHH-binding. induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 AGCACGGCCACGCCAAGGTTA 0.527 0 133.0 117.0 122.0 17 7213113 2203 4300 6503 SO:0001819 synonymous_variant CCDS11099.1, CCDS45601.1 17p13-p12 2009-05-01 ENSG00000132507 ENSG00000132507 3300 protein-coding gene gene with protein product 600187 7759117 Standard NM_001143760 Approved EIF5A1, EIF-5A, MGC99547, MGC104255 uc002gfr.3 P63241 OTTHUMG00000102197 ENST00000336458.8:c.159C>T 17.37:g.7213113C>T A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2 ENST00000336458.8 37 CCDS11099.1 . . . . . . . . . . C 10.05 1.243257 0.22796 . . ENSG00000132507 ENST00000355068 . . . 4.55 -5.91 0.02269 . . . . . T 0.49660 0.1570 . . . 0.80722 D 1 B 0.24186 0.099 B 0.17098 0.017 T 0.17684 -1.0361 7 0.87932 D 0 -17.9213 13.8611 0.63561 0.0:0.5405:0.0:0.4595 . 51 F5H5Z4 . M 51 . ENSP00000347180:T51M T + 2 0 EIF5A 7153837 0.699000 0.27786 0.948000 0.38648 0.987000 0.75469 -0.258000 0.08733 -1.174000 0.02754 -0.362000 0.07510 ACG EIF5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000220047.3 2.836141 0 -18 73 0 0 1 0 NM_001970 5 11.854012 49 0.092593 MUC4 4585 broad.mit.edu hg19 3 195474130 195474130 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:195474130C>T ENST00000463781.3 - 25 16615 c.16156G>A c.(16156-16158)Ggg>Agg p.G5386R MUC4_ENST00000349607.4_Missense_Mutation_p.G1099R|MUC4_ENST00000346145.4_Missense_Mutation_p.G1150R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5334R NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 2143 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACGAACGTCCCGACCCCCAGC 0.637 0 77.0 81.0 80.0 3 195474130 2203 4300 6503 SO:0001583 missense AJ276359 CCDS3310.1, CCDS3311.1, CCDS54700.1 3q29 2007-01-19 2006-03-14 ENSG00000145113 ENSG00000145113 """Mucins""" 7514 protein-coding gene gene with protein product 158372 """mucin 4, tracheobronchial""" 1673336 Standard NM_004532 Approved uc021xjp.1 Q99102 OTTHUMG00000151827 ENST00000346145.4:c.3448G>A 3.37:g.195474130C>T ENSP00000304207:p.Gly1150Arg O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81 ENST00000346145.4 37 CCDS3310.1 . . . . . . . . . . c 12.97 2.097113 0.37048 . . ENSG00000145113 ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409 T;T;T;T 0.37584 1.19;1.55;1.41;1.47 5.14 2.27 0.28462 . 1.906250 0.03227 N 0.178498 T 0.37892 0.1020 L 0.43152 1.355 0.09310 N 1 D;D;D;D;D;D 0.67145 0.996;0.98;0.98;0.967;0.967;0.98 P;P;P;B;B;P 0.47915 0.561;0.482;0.482;0.289;0.289;0.482 T 0.13045 -1.0524 10 0.62326 D 0.03 0.2878 4.248 0.10680 0.189:0.616:0.0:0.195 . 5258;1099;1150;5386;5334;2091 E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10 .;.;.;.;.;. R 1099;1150;5386;5334;1886 ENSP00000338109:G1099R;ENSP00000304207:G1150R;ENSP00000417498:G5386R;ENSP00000420243:G5334R ENSP00000304207:G1150R G - 1 0 MUC4 196959801 0.000000 0.05858 0.000000 0.03702 0.032000 0.12392 -0.162000 0.10012 0.164000 0.19529 0.543000 0.68304 GGG MUC4-015 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000341862.1 23.733853 0 35 110 0 0 1 0 NM_018406 10 26.181793 31 0.243902 ZNF324 25799 broad.mit.edu hg19 19 58983109 58983109 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:58983109G>A ENST00000536459.2 + 4 1959 c.1250G>A c.(1249-1251)cGc>cAc p.R417H ZNF324_ENST00000196482.3_Missense_Mutation_p.R417H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R194H O75467 Z324A_HUMAN zinc finger protein 324 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AAGCACCAGCGCGTGCACACA 0.662 0 41.0 41.0 41.0 19 58983109 2203 4299 6502 SO:0001583 missense AF060503 CCDS12981.1 19q13.43 2013-01-08 ENSG00000083812 """Zinc fingers, C2H2-type"", ""-""" 14096 protein-coding gene gene with protein product Standard NM_014347 Approved ZF5128, ZNF324A uc002qsw.2 O75467 ENST00000536459.2:c.1250G>A 19.37:g.58983109G>A ENSP00000444812:p.Arg417His B3KRX1 ENST00000536459.2 37 CCDS12981.1 . . . . . . . . . . G 18.17 3.565449 0.65651 . . ENSG00000083812 ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298 T;T;T 0.25749 1.78;1.78;1.78 3.84 3.84 0.44239 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.38663 N 0.001606 T 0.52901 0.1763 M 0.82823 2.61 0.39593 D 0.969614 D 0.89917 1.0 D 0.85130 0.997 T 0.62282 -0.6887 10 0.72032 D 0.01 . 14.0557 0.64767 0.0:0.0:1.0:0.0 . 417 O75467 Z324A_HUMAN H 417;417;407;194 ENSP00000196482:R417H;ENSP00000444812:R417H;ENSP00000439588:R194H ENSP00000196482:R417H R + 2 0 ZNF324 63674921 0.855000 0.29742 0.948000 0.38648 0.519000 0.34347 4.700000 0.61803 2.433000 0.82419 0.400000 0.26472 CGC ZNF324-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467044.1 75.030971 0 -12 45 0 0 1 0 NM_014347 24 75.092981 28 0.461538 AGAP1 116987 broad.mit.edu hg19 2 237032585 237032585 + Missense_Mutation SNP G G A rs138364081 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:237032585G>A ENST00000304032.8 + 18 2973 c.2393G>A c.(2392-2394)cGa>cAa p.R798Q AGAP1_ENST00000409538.1_Missense_Mutation_p.R1010Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R637Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R745Q NM_001037131.2 NP_001032208.1 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GTCACGGCCCGAGATGCCCAC 0.647 0 47.0 49.0 48.0 2 237032585 2203 4300 6503 SO:0001583 missense AF413078 CCDS2514.1, CCDS33408.1, CCDS58756.1 2q37 2013-01-10 2008-09-22 2008-09-22 ENSG00000157985 ENSG00000157985 """ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing""" 16922 protein-coding gene gene with protein product 608651 """centaurin, gamma 2""" CENTG2 Standard NM_001037131 Approved KIAA1099, GGAP1 uc002vvs.3 Q9UPQ3 OTTHUMG00000133293 ENST00000336665.5:c.2234G>A 2.37:g.237032585G>A ENSP00000338378:p.Arg745Gln B2RTX7|Q541S5|Q6P9D7|Q9NV93 ENST00000336665.5 37 CCDS2514.1 . . . . . . . . . . G 12.98 2.101250 0.37048 4.54E-4 3.49E-4 ENSG00000157985 ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334 T;T;T;T 0.65549 -0.16;-0.16;-0.16;-0.16 4.21 4.21 0.49690 Ankyrin repeat-containing domain (4); 0.122857 0.51477 D 0.000089 T 0.63105 0.2483 N 0.13235 0.315 0.58432 D 0.999999 D;D 0.89917 0.997;1.0 P;D 0.79784 0.897;0.993 T 0.61073 -0.7136 10 0.19147 T 0.46 . 16.5628 0.84570 0.0:0.0:1.0:0.0 . 745;798 Q9UPQ3-2;Q9UPQ3 .;AGAP1_HUMAN Q 798;745;1010;637 ENSP00000307634:R798Q;ENSP00000338378:R745Q;ENSP00000386897:R1010Q;ENSP00000411824:R637Q ENSP00000307634:R798Q R + 2 0 AGAP1 236697324 1.000000 0.71417 0.997000 0.53966 0.018000 0.09664 9.570000 0.98174 1.901000 0.55032 0.591000 0.81541 CGA AGAP1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257077.1 33.118749 0 4 51 0 0 1 0 NM_014914 11 33.693275 20 0.354839 HCN4 10021 broad.mit.edu hg19 15 73615896 73615896 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:73615896C>T ENST00000261917.3 - 8 3531 c.2538G>A c.(2536-2538)ccG>ccA p.P846P NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 846 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) CCACCTGGGACGGGCTGCTGG 0.667 0 52.0 55.0 54.0 15 73615896 2195 4291 6486 SO:0001819 synonymous_variant AJ132429 CCDS10248.1 15q24.1 2011-07-05 ENSG00000138622 ENSG00000138622 """Voltage-gated ion channels / Cyclic nucleotide-regulated channels""" 16882 protein-coding gene gene with protein product 605206 10228147, 10430953, 16382102 Standard NM_005477 Approved uc002avp.3 Q9Y3Q4 OTTHUMG00000137563 ENST00000261917.3:c.2538G>A 15.37:g.73615896C>T Q9UMQ7 ENST00000261917.3 37 CCDS10248.1 HCN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268900.2 63.435567 0 -14 78 0 0 1 0 NM_005477 22 64.176871 36 0.379310 MSRB3 253827 broad.mit.edu hg19 12 65857066 65857066 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:65857066C>T ENST00000308259.5 + 7 796 c.522C>T c.(520-522)gtC>gtT p.V174V MSRB3_ENST00000355192.3_Silent_p.V181V|MSRB3_ENST00000535664.1_Silent_p.V174V NM_001031679.2|NM_001193460.1 NP_001026849.1|NP_001180389.1 Q8IXL7 MSRB3_HUMAN methionine sulfoxide reductase B3 181 protein repair endoplasmic reticulum|mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.131) GCAGTGGGGTCGCCAGCCCGG 0.502 0 58.0 54.0 55.0 12 65857066 2203 4300 6503 SO:0001819 synonymous_variant BX640871 CCDS8973.1, CCDS31853.1 12q14.3 2011-11-29 ENSG00000174099 ENSG00000174099 27375 protein-coding gene gene with protein product 613719 """deafness, autosomal recessive 74""" DFNB74 21185009 Standard NM_198080 Approved FLJ36866, DKFZp686C1178 uc021qzy.1 Q8IXL7 OTTHUMG00000168866 ENST00000308259.5:c.522C>T 12.37:g.65857066C>T B4DR19|B7ZAQ0|Q6UXS2 ENST00000308259.5 37 CCDS31853.1 MSRB3-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401422.1 7.346651 0 -29 43 0 0 1 0 NM_198080 7 15.721318 52 0.118644 DPF3 8110 broad.mit.edu hg19 14 73137976 73137976 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:73137976G>A ENST00000541685.1 - 9 954 c.942C>T c.(940-942)ttC>ttT p.F314F DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Silent_p.F324F NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 142 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) ACGTGGAACCGAATAAGTCCT 0.547 0 84.0 90.0 88.0 14 73137976 2202 4297 6499 SO:0001819 synonymous_variant U43919 CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1 14q24.2 2014-05-13 ENSG00000205683 ENSG00000205683 """Zinc fingers, PHD-type""" 17427 protein-coding gene gene with protein product 601672 11845289, 8812431 Standard NM_012074 Approved cer-d4, Cerd4, FLJ14079, BAF45c uc010ari.1 Q92784 ENST00000546183.1:c.972C>T 14.37:g.73137976G>A A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5 ENST00000546183.1 37 DPF3-001 NOVEL basic protein_coding protein_coding OTTHUMT00000413156.1 6.580514 0 -15 49 0 0 1 0 4 10.256916 25 0.137931 NPAS2 4862 broad.mit.edu hg19 2 101541694 101541694 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:101541694C>T ENST00000335681.5 + 3 404 c.119C>T c.(118-120)aCg>aTg p.T40M NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.T105M NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 40 Helix-loop-helix motif. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTGGCAACACGCGGAAAATG 0.453 0 115.0 107.0 110.0 2 101541694 2203 4300 6503 SO:0001583 missense U77970 CCDS2048.1 2q11.2 2013-05-21 ENSG00000170485 ENSG00000170485 """Basic helix-loop-helix proteins""" 7895 protein-coding gene gene with protein product 603347 9012850, 9079689 Standard NM_002518 Approved MOP4, PASD4, bHLHe9 uc002tap.1 Q99743 OTTHUMG00000130675 ENST00000335681.5:c.119C>T 2.37:g.101541694C>T ENSP00000338283:p.Thr40Met Q4ZFV9|Q53SQ3|Q86V96|Q99629 ENST00000335681.5 37 CCDS2048.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 28.4|28.4 4.920888|4.920888 0.92249|0.92249 .|. .|. ENSG00000170485|ENSG00000170485 ENST00000427413|ENST00000335681;ENST00000542504;ENST00000451740 D|D;D;D 0.98060|0.97924 -4.69|-4.61;-4.61;-4.61 5.65|5.65 4.77|4.77 0.60923|0.60923 .|Helix-loop-helix DNA-binding (5); .|0.109289 .|0.64402 .|N .|0.000007 D|D 0.97857|0.97857 0.9296|0.9296 L|L 0.46157|0.46157 1.445|1.445 0.54753|0.54753 D|D 0.999984|0.999984 .|D;D .|0.89917 .|1.0;1.0 .|D;D .|0.75020 .|0.975;0.985 D|D 0.98565|0.98565 1.0643|1.0643 6|10 .|0.66056 .|D .|0.02 .|. 14.3258|14.3258 0.66518|0.66518 0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709 .|. .|105;40 .|F5H027;Q99743 .|.;NPAS2_HUMAN C|M 106|40;105;24 ENSP00000397595:R106C|ENSP00000338283:T40M;ENSP00000438428:T105M;ENSP00000395265:T24M .|ENSP00000338283:T40M R|T +|+ 1|2 0|0 NPAS2|NPAS2 100908126|100908126 0.997000|0.997000 0.39634|0.39634 0.857000|0.857000 0.33713|0.33713 0.924000|0.924000 0.55760|0.55760 3.680000|3.680000 0.54641|0.54641 1.378000|1.378000 0.46305|0.46305 0.655000|0.655000 0.94253|0.94253 CGC|ACG NPAS2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000253168.3 -2.009628 0 10 78 0 0 1 0 3 6.477819 41 0.068182 CSN1S1 0 broad.mit.edu hg19 4 70810661 70810661 + Missense_Mutation SNP G G A rs149927680 by1000genomes TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:70810661G>A ENST00000246891.4 + 15 545 c.496G>A c.(496-498)Gac>Aac p.D166N CSN1S1_ENST00000444405.3_Missense_Mutation_p.D157N|CSN1S1_ENST00000505782.1_Missense_Mutation_p.D150N|CSN1S1_ENST00000507772.1_Missense_Mutation_p.D158N|CSN1S1_ENST00000507763.1_Missense_Mutation_p.D157N NM_001890.1 NP_001881.1 P47710 CASA1_HUMAN casein alpha s1 166 extracellular region protein binding|transporter activity lung(5)|prostate(1)|upper_aerodigestive_tract(1) 7 ACCGTTTTCCGACATCTCCAA 0.418 0 266.0 251.0 256.0 4 70810661 1919 4131 6050 SO:0001583 missense X78416 CCDS47067.1, CCDS54769.1 4q21.1 2014-02-19 2003-01-24 2003-01-31 ENSG00000126545 ENSG00000126545 2445 protein-coding gene gene with protein product 115450 """casein, alpha""" CASA, CSN1 9050925, 7619062 Standard NM_001890 Approved uc003hep.1 P47710 OTTHUMG00000160843 ENST00000246891.4:c.496G>A 4.37:g.70810661G>A ENSP00000246891:p.Asp166Asn A1A510|A1A511|E9PB60|Q4PNR5 ENST00000246891.4 37 CCDS47067.1 . . . . . . . . . . G 10.02 1.236426 0.22711 . . ENSG00000126545 ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782;ENST00000510936 T;T;T;T;T;T 0.47869 1.03;1.02;1.02;1.02;1.0;0.83 4.28 -3.58 0.04597 . 1.284450 0.05448 N 0.548891 T 0.21962 0.0529 N 0.11927 0.2 0.22926 N 0.998559 P;P;P 0.36125 0.538;0.538;0.538 B;B;B 0.24155 0.051;0.051;0.051 T 0.10451 -1.0629 9 0.37606 T 0.19 -0.132 5.695 0.17851 0.5235:0.2806:0.1959:0.0 . 158;157;166 E9PDQ1;E9PB60;P47710 .;.;CASA1_HUMAN N 166;157;158;157;158;150;57 ENSP00000246891:D166N;ENSP00000413157:D157N;ENSP00000422611:D157N;ENSP00000427490:D158N;ENSP00000426684:D150N;ENSP00000421314:D57N ENSP00000246891:D166N D + 1 0 CSN1S1 70845250 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.279000 0.08479 -0.873000 0.04032 -0.175000 0.13238 GAC CSN1S1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000362629.1 55.004985 0 -18 106 0 0 1 0 22 60.182931 67 0.247191 AGRN 375790 broad.mit.edu hg19 1 977395 977395 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:977395C>T ENST00000379370.2 + 7 1287 c.1237C>T c.(1237-1239)Cgc>Tgc p.R413C NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 413 Kazal-like 4. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TGGCCGTCCCCGCTGCTCCTG 0.692 0 35.0 38.0 37.0 1 977395 2202 4295 6497 SO:0001583 missense XM_372195 CCDS30551.1 1p36.33 2014-09-17 2007-02-16 ENSG00000188157 ENSG00000188157 """Proteoglycans / Extracellular Matrix : Other""" 329 protein-coding gene gene with protein product """agrin proteoglycan""" 103320 1851019, 12270958 Standard NM_198576 Approved AGRIN uc001ack.2 O00468 OTTHUMG00000040778 ENST00000379370.2:c.1237C>T 1.37:g.977395C>T ENSP00000368678:p.Arg413Cys Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 ENST00000379370.2 37 CCDS30551.1 . . . . . . . . . . C 16.83 3.231172 0.58777 . . ENSG00000188157 ENST00000379370 T 0.31769 1.48 4.89 3.94 0.45596 . 0.254698 0.32093 N 0.006588 T 0.59046 0.2165 M 0.87547 2.89 0.58432 D 0.999999 D 0.89917 1.0 D 0.71414 0.973 T 0.66440 -0.5923 10 0.59425 D 0.04 -14.3216 14.1156 0.65151 0.1518:0.8482:0.0:0.0 . 413 O00468 AGRIN_HUMAN C 413 ENSP00000368678:R413C ENSP00000368678:R413C R + 1 0 AGRN 967258 0.985000 0.35326 0.796000 0.32109 0.628000 0.37860 4.321000 0.59209 0.972000 0.38314 0.609000 0.83330 CGC AGRN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097990.2 35.358454 0 -11 53 0 0 1 0 NM_198576 13 36.858665 30 0.302326 LARP1 23367 broad.mit.edu hg19 5 154173236 154173236 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:154173236G>A ENST00000336314.4 + 5 614 c.590G>A c.(589-591)cGc>cAc p.R197H NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 274 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGCCCCACTCGCCCACCGGAG 0.547 0 123.0 135.0 131.0 5 154173236 2203 4300 6503 SO:0001583 missense AB018274 CCDS4328.1 5q33.2 2014-02-12 ENSG00000155506 ENSG00000155506 """La ribonucleoprotein domain containing""" 29531 protein-coding gene gene with protein product 612059 9872452, 10878606 Standard NM_015315 Approved LARP, KIAA0731, MGC19556 uc003lvo.4 Q6PKG0 OTTHUMG00000130191 ENST00000336314.4:c.590G>A 5.37:g.154173236G>A ENSP00000336721:p.Arg197His O94836|Q8N4M2|Q8NB73|Q9UFD7 ENST00000336314.4 37 CCDS4328.1 . . . . . . . . . . G 24.5 4.538203 0.85917 . . ENSG00000155506 ENST00000336314;ENST00000518297;ENST00000519931;ENST00000524248;ENST00000523163 T;T;T;T 0.48836 1.75;1.31;1.36;0.8 5.91 5.91 0.95273 . 0.000000 0.85682 D 0.000000 T 0.54095 0.1837 N 0.12182 0.205 0.58432 D 0.999998 D;D 0.89917 1.0;1.0 D;D 0.78314 0.959;0.991 T 0.57843 -0.7741 10 0.44086 T 0.13 -13.7021 20.2985 0.98592 0.0:0.0:1.0:0.0 . 274;197 Q6PKG0;Q6PKG0-3 LARP1_HUMAN;. H 197;274;69;69;49 ENSP00000336721:R197H;ENSP00000428589:R274H;ENSP00000429904:R69H;ENSP00000430438:R49H ENSP00000336721:R197H R + 2 0 LARP1 154153429 1.000000 0.71417 0.994000 0.49952 0.591000 0.36615 5.496000 0.66918 2.793000 0.96121 0.655000 0.94253 CGC LARP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252509.1 115.087380 0 -10 136 0 0 1 0 NM_033551 42 115.090602 43 0.494118 TTN 7273 broad.mit.edu hg19 2 179431174 179431174 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:179431174C>T ENST00000589042.1 - 326 79909 c.79685G>A c.(79684-79686)cGa>cAa p.R26562Q TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17689Q|TTN_ENST00000359218.5_Missense_Mutation_p.R17622Q|TTN_ENST00000591111.1_Missense_Mutation_p.R24921Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23994Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17497Q|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24921 Fibronectin type-III 93. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCACAGACTCGTATTTTATA 0.423 0 144.0 145.0 144.0 2 179431174 1921 4121 6042 SO:0001583 missense X90568 CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1 2q31 2014-09-17 2004-02-13 ENSG00000155657 ENSG00000155657 """Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 12403 protein-coding gene gene with protein product 188840 """cardiomyopathy, dilated 1G (autosomal dominant)""" CMD1G 2129545, 10051295 Standard NM_003319 Approved CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5 uc031rqd.1 Q8WZ42 OTTHUMG00000154448 ENST00000589042.1:c.79685G>A 2.37:g.179431174C>T ENSP00000467141:p.Arg26562Gln A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9 ENST00000589042.1 37 CCDS59435.1 . . . . . . . . . . C 16.82 3.227950 0.58777 . . ENSG00000155657 ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127 T;T;T;T 0.50277 0.75;0.75;0.75;0.75 5.92 5.92 0.95590 Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1); . . . . T 0.71508 0.3348 M 0.74546 2.27 0.51767 D 0.99993 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.87578 0.998;0.998;0.998;0.998 T 0.72603 -0.4243 9 0.87932 D 0 . 20.3207 0.98668 0.0:1.0:0.0:0.0 . 17497;17622;17689;24921 D3DPF9;E7EQE6;E7ET18;Q8WZ42 .;.;.;TITIN_HUMAN Q 23994;17497;17689;17622;17495 ENSP00000343764:R23994Q;ENSP00000434586:R17497Q;ENSP00000340554:R17689Q;ENSP00000352154:R17622Q ENSP00000340554:R17689Q R - 2 0 TTN 179139420 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 3.917000 0.56424 2.813000 0.96785 0.561000 0.74099 CGA TTN-018 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000450680.2 73.882082 0 -22 135 0 0 1 0 NM_133378 27 78.817970 74 0.267327 S1PR4 8698 broad.mit.edu hg19 19 3179432 3179432 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:3179432C>T ENST00000246115.3 + 1 697 c.642C>T c.(640-642)ggC>ggT p.G214G S1PR4_ENST00000591346.1_3'UTR NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 214 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 TCTTCGCCGGCGTCCTGGCCA 0.682 0 118.0 124.0 122.0 19 3179432 2203 4300 6503 SO:0001819 synonymous_variant AJ000479 CCDS12105.1 19p13.3 2012-08-08 2008-04-30 2008-04-30 ENSG00000125910 """GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate""" 3170 protein-coding gene gene with protein product 603751 """endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6""" EDG6 9790765 Standard NM_003775 Approved uc002lxg.3 O95977 ENST00000246115.3:c.642C>T 19.37:g.3179432C>T D6W612 ENST00000246115.3 37 CCDS12105.1 S1PR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452517.1 109.682530 0 -17 224 0 0 1 0 NM_003775 42 117.344314 115 0.267516 PTPN21 11099 broad.mit.edu hg19 14 88945353 88945353 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:88945353G>A ENST00000556564.1 - 13 2706 c.2422C>T c.(2422-2424)Cga>Tga p.R808* PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R808* NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 808 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTCCGGGCTCGGTAGCGGCCT 0.662 0 45.0 50.0 49.0 14 88945353 2203 4300 6503 SO:0001587 stop_gained X79510 CCDS9884.1 14q31 2011-06-09 ENSG00000070778 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor""" 9651 protein-coding gene gene with protein product 603271 7519780 Standard NM_007039 Approved PTPD1, PTPRL10 uc001xwv.4 Q16825 ENST00000556564.1:c.2422C>T 14.37:g.88945353G>A ENSP00000452414:p.Arg808* ENST00000556564.1 37 CCDS9884.1 . . . . . . . . . . G 38 7.146204 0.98096 . . ENSG00000070778 ENST00000328736;ENST00000556564 . . . 5.55 4.59 0.56863 . 0.240363 0.41500 D 0.000872 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 11.0944 0.48134 0.0:0.0:0.591:0.409 . . . . X 808 . ENSP00000330276:R808X R - 1 2 PTPN21 88015106 1.000000 0.71417 0.989000 0.46669 0.053000 0.15095 5.038000 0.64177 2.612000 0.88384 0.655000 0.94253 CGA PTPN21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410303.1 11.725805 0 -12 71 0 0 1 0 6 16.192613 33 0.153846 NYX 60506 broad.mit.edu hg19 X 41333540 41333540 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:41333540C>T ENST00000342595.2 + 2 1290 c.834C>T c.(832-834)gcC>gcT p.A278A NYX_ENST00000378220.1_Silent_p.A278A NM_022567.2 NP_072089.1 Q9GZU5 NYX_HUMAN nyctalopin 278 response to stimulus|visual perception intracellular|proteinaceous extracellular matrix NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1) 17 CTGACCTGGCCGAGCTCGAGC 0.711 0 22.0 22.0 22.0 X 41333540 2200 4293 6493 SO:0001819 synonymous_variant AF254868 CCDS14256.1 Xp11.4 2014-01-28 ENSG00000188937 ENSG00000188937 8082 protein-coding gene gene with protein product 300278 CSNB1, CSNB4 11062471, 11062472 Standard NM_022567 Approved CLRP, CSNB1A uc004dfh.2 Q9GZU5 OTTHUMG00000021370 ENST00000342595.2:c.834C>T X.37:g.41333540C>T D3DWC0|Q2M1S4|Q5H983|Q9H4J0 ENST00000342595.2 37 CCDS14256.1 NYX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056256.1 18.617040 0 -11 24 0 0 1 0 NM_022567 7 19.703308 18 0.280000 GRIK3 2899 broad.mit.edu hg19 1 37307503 37307503 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:37307503G>A ENST00000373091.3 - 10 1380 c.1364C>T c.(1363-1365)aCg>aTg p.T455M GRIK3_ENST00000373093.4_Missense_Mutation_p.T455M NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 455 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) CCCGTATAGCGTCCTGTCTGA 0.577 1 171.0 157.0 162.0 1 37307503 2203 4300 6503 SO:0001583 missense U16127 CCDS416.1 1p34.3 2012-08-29 ENSG00000163873 ENSG00000163873 """Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors""" 4581 protein-coding gene gene with protein product 138243 8128318 Standard NM_000831 Approved GluK3, GLUR7 uc001caz.2 Q13003 OTTHUMG00000004189 ENST00000373091.3:c.1364C>T 1.37:g.37307503G>A ENSP00000362183:p.Thr455Met A9Z1Z8|B1AMS6|Q13004|Q16136 ENST00000373091.3 37 CCDS416.1 . . . . . . . . . . G 12.69 2.014316 0.35511 0.0 1.16E-4 ENSG00000163873 ENST00000373091;ENST00000373093 T;T 0.77750 -1.12;-1.12 4.95 4.95 0.65309 Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1); 0.060705 0.64402 D 0.000003 T 0.73729 0.3624 L 0.28054 0.825 0.36253 D 0.854055 P;P 0.40970 0.734;0.734 P;P 0.49665 0.618;0.492 T 0.76152 -0.3064 10 0.29301 T 0.29 . 12.9613 0.58460 0.0783:0.0:0.9217:0.0 . 455;455 A9Z1Z8;Q13003 .;GRIK3_HUMAN M 455 ENSP00000362183:T455M;ENSP00000362185:T455M ENSP00000362183:T455M T - 2 0 GRIK3 37080090 1.000000 0.71417 0.924000 0.36721 0.340000 0.28889 6.789000 0.75110 2.446000 0.82766 0.655000 0.94253 ACG GRIK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000012053.1 135.626158 0 -7 112 0 0 1 0 NM_000831 43 135.628586 44 0.494253 PVRIG 79037 broad.mit.edu hg19 7 99817744 99817744 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:99817744G>A ENST00000317271.2 + 3 489 c.126G>A c.(124-126)ccG>ccA p.P42P GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA NM_024070.3 NP_076975.2 Q6DKI7 PVRIG_HUMAN poliovirus receptor related immunoglobulin domain containing 42 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2) 11 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGGGACCCCGGAGGTGTGGG 0.637 0 24.0 27.0 26.0 7 99817744 2203 4300 6503 SO:0001819 synonymous_variant BC001129 CCDS5690.1 7q22.1 2013-06-26 ENSG00000213413 ENSG00000213413 32190 protein-coding gene gene with protein product 16926269 Standard NM_024070 Approved MGC2463, C7orf15 uc003uuf.1 Q6DKI7 OTTHUMG00000156798 ENST00000317271.2:c.126G>A 7.37:g.99817744G>A D6W5U9|Q9BVK3 ENST00000317271.2 37 CCDS5690.1 PVRIG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345870.2 16.476832 0 -8 8 0 0 1 0 NM_024070 5 16.586576 3 0.625000 IVD 3712 broad.mit.edu hg19 15 40702919 40702919 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:40702919G>A ENST00000249760.2 + 4 722 c.379G>A c.(379-381)Ggt>Agt p.G127S IVD_ENST00000479013.2_Missense_Mutation_p.G100S|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.G130S NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 127 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) GCTCAGTTACGGTGCCCACTC 0.547 0 80.0 67.0 71.0 15 40702919 2203 4300 6503 SO:0001583 missense AF038317 CCDS10057.1, CCDS10057.2, CCDS53930.1 15q14-q15 2010-05-11 2010-05-11 ENSG00000128928 ENSG00000128928 6186 protein-coding gene gene with protein product 607036 """isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase""" 2063866 Standard NM_002225 Approved ACAD2 uc001zls.3 P26440 OTTHUMG00000129984 ENST00000487418.2:c.388G>A 15.37:g.40702919G>A ENSP00000418397:p.Gly130Ser B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6 ENST00000487418.2 37 CCDS10057.2 . . . . . . . . . . G 34 5.389874 0.95988 . . ENSG00000128928 ENST00000249760;ENST00000479013;ENST00000487418 D;D;D 0.99704 -6.46;-6.46;-6.46 5.17 5.17 0.71159 Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1); 0.045090 0.85682 D 0.000000 D 0.99462 0.9809 L 0.41573 1.285 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.988 D 0.98808 1.0742 10 0.52906 T 0.07 . 18.8538 0.92242 0.0:0.0:1.0:0.0 . 127;100 P26440;B3KVI7 IVD_HUMAN;. S 127;100;130 ENSP00000249760:G127S;ENSP00000417990:G100S;ENSP00000418397:G130S ENSP00000249760:G127S G + 1 0 IVD 38490211 1.000000 0.71417 0.253000 0.24343 0.909000 0.53808 9.623000 0.98386 2.691000 0.91804 0.655000 0.94253 GGT IVD-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000252250.3 37.798110 0 -2 50 0 0 1 0 12 37.831503 14 0.461538 AP3B2 8120 broad.mit.edu hg19 15 83346476 83346476 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:83346476C>T ENST00000261722.3 - 12 1532 c.1325G>A c.(1324-1326)cGa>cAa p.R442Q AP3B2_ENST00000535359.1_Missense_Mutation_p.R442Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R410Q NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 442 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GTCACGGACTCGGCCGATGTT 0.532 0 49.0 50.0 50.0 15 83346476 2148 4259 6407 SO:0001583 missense U37673 CCDS45331.1, CCDS61736.1, CCDS61737.1 15q 2008-07-07 ENSG00000103723 ENSG00000103723 567 protein-coding gene gene with protein product 602166 7671305, 1851215 Standard NM_004644 Approved NAPTB uc010uoh.2 Q13367 OTTHUMG00000168009 ENST00000535348.1:c.1229G>A 15.37:g.83346476C>T ENSP00000438721:p.Arg410Gln A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8 ENST00000535348.1 37 . . . . . . . . . . C 17.29 3.351296 0.61183 . . ENSG00000103723 ENST00000261722;ENST00000535348;ENST00000535359 T;T;T 0.12255 2.7;2.7;2.7 4.98 4.05 0.47172 Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1); 0.125658 0.51477 D 0.000082 T 0.04003 0.0112 N 0.02685 -0.53 0.80722 D 1 B;B;B 0.32507 0.373;0.064;0.032 B;B;B 0.23150 0.044;0.009;0.009 T 0.42464 -0.9450 10 0.33141 T 0.24 -4.6877 3.3267 0.07070 0.2273:0.5763:0.0:0.1964 . 410;442;442 B7ZKR7;B7ZKS0;Q13367 .;.;AP3B2_HUMAN Q 442;410;442 ENSP00000261722:R442Q;ENSP00000438721:R410Q;ENSP00000440984:R442Q ENSP00000261722:R442Q R - 2 0 AP3B2 81143531 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 5.969000 0.70422 1.298000 0.44778 0.655000 0.94253 CGA AP3B2-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000397466.1 40.606596 0 -7 10 0 0 1 0 12 41.251450 5 0.705882 SMARCAD1 56916 broad.mit.edu hg19 4 95198183 95198183 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:95198183G>A ENST00000354268.4 + 16 2028 c.1955G>A c.(1954-1956)cGt>cAt p.R652H SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R222H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R652H Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 652 Helicase ATP-binding. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) GCAAATAACCGTTTGCTGCTC 0.413 1 146.0 139.0 141.0 4 95198183 2203 4300 6503 SO:0001583 missense AB032948 CCDS3639.1, CCDS47101.1, CCDS58914.1 4q22-q23 2008-02-05 ENSG00000163104 ENSG00000163104 18398 protein-coding gene gene with protein product 612761 11031099 Standard NM_001128430 Approved ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015 uc003htb.4 Q9H4L7 OTTHUMG00000130971 ENST00000509418.1:c.665G>A 4.37:g.95198183G>A ENSP00000423286:p.Arg222His B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7 ENST00000509418.1 37 CCDS58914.1 . . . . . . . . . . G 33 5.247895 0.95305 . . ENSG00000163104 ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418 D;D;D;D 0.95588 -3.75;-3.75;-3.75;-3.75 5.24 5.24 0.73138 DEAD-like helicase (2);SNF2-related (1); 0.000000 0.47455 D 0.000223 D 0.98406 0.9470 H 0.94264 3.515 0.80722 D 1 D;D 0.71674 0.998;0.998 D;D 0.71414 0.973;0.954 D 0.99581 1.0973 10 0.87932 D 0 -10.8601 18.8643 0.92285 0.0:0.0:1.0:0.0 . 652;652 Q9H4L7;Q9H4L7-2 SMRCD_HUMAN;. H 652;652;652;222 ENSP00000351947:R652H;ENSP00000415576:R652H;ENSP00000346217:R652H;ENSP00000423286:R222H ENSP00000346217:R652H R + 2 0 SMARCAD1 95417206 1.000000 0.71417 0.985000 0.45067 0.942000 0.58702 9.333000 0.96459 2.463000 0.83235 0.555000 0.69702 CGT SMARCAD1-006 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000362981.2 -9.103287 0 -29 83 0 0 1 0 NM_020159 5 10.983255 90 0.052632 MUC2 4583 broad.mit.edu hg19 11 1095811 1095811 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:1095811G>A ENST00000441003.2 + 33 6349 c.6322G>A c.(6322-6324)Ggc>Agc p.G2108S MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.G246S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4470 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGACCCCGACGGCTGCTGCTG 0.701 0 26.0 35.0 32.0 11 1095811 2130 4229 6359 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 """Mucins""" 7512 protein-coding gene gene with protein product 158370 """mucin 2, intestinal/tracheal""" 15081123 Standard NM_002457 Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.6322G>A 11.37:g.1095811G>A ENSP00000415183:p.Gly2108Ser Q14878 ENST00000441003.2 37 . . . . . . . . . . G 5.123 0.208280 0.09757 . . ENSG00000198788 ENST00000441003;ENST00000361558 T;T 0.31769 2.54;1.48 3.62 -1.48 0.08745 . . . . . T 0.18841 0.0452 L 0.35542 1.07 0.09310 N 1 D 0.59357 0.985 B 0.40602 0.334 T 0.24154 -1.0168 9 0.29301 T 0.29 . 8.196 0.31396 0.1804:0.3911:0.4285:0.0 . 2108 E7EUV1 . S 2108;246 ENSP00000415183:G2108S;ENSP00000354885:G246S ENSP00000354885:G246S G + 1 0 MUC2 1085811 0.003000 0.15002 0.017000 0.16124 0.165000 0.22458 0.514000 0.22786 -0.050000 0.13356 0.491000 0.48974 GGC MUC2-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000345894.2 5.714073 0 -5 17 0 0 1 0 NM_002457 3 7.833363 16 0.157895 FBXW7 0 broad.mit.edu hg19 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:153247366C>T ENST00000281708.4 - 10 2665 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 479 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403 47 85.0 80.0 82.0 4 153247366 2203 4299 6502 SO:0001583 missense AF411971 CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1 4q31.23 2013-01-09 2012-02-23 """F-boxes / WD-40 domains"", ""WD repeat domain containing""" 16712 protein-coding gene gene with protein product """archipelago homolog (Drosophila)""" 606278 """F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7""" 10531037, 11425854 Standard NM_018315 Approved AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6 uc003ims.3 Q969H0 ENST00000281708.4:c.1436G>A 4.37:g.153247366C>T ENSP00000281708:p.Arg479Gln B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6 ENST00000281708.4 37 CCDS3777.1 . . . . . . . . . . C 33 5.283775 0.95489 . . ENSG00000109670 ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956 T;T;T;T 0.40756 1.02;1.02;1.02;1.02 5.72 5.72 0.89469 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.50222 0.1603 N 0.12527 0.23 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;1.0 T 0.56529 -0.7964 10 0.56958 D 0.05 -12.7081 20.2406 0.98372 0.0:1.0:0.0:0.0 . 303;479;361;399 B7Z2C8;Q969H0;Q969H0-4;Q969H0-2 .;FBXW7_HUMAN;.;. Q 479;361;399;303 ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q ENSP00000263981:R399Q R - 2 0 FBXW7 153466816 1.000000 0.71417 1.000000 0.80357 0.974000 0.67602 7.715000 0.84713 2.857000 0.98124 0.650000 0.86243 CGA FBXW7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000469956.1 12.728966 0 -4 54 0 0 1 0 6 16.300053 29 0.171429 WDR25 79446 broad.mit.edu hg19 14 100992227 100992227 + Silent SNP G G A rs143825676 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:100992227G>A ENST00000335290.6 + 5 1348 c.1122G>A c.(1120-1122)gcG>gcA p.A374A WDR25_ENST00000554998.1_Silent_p.A374A|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.A374A|WDR25_ENST00000542471.2_Silent_p.A117A NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 374 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) GCTACAAGGCGACCATCCAGC 0.622 0 92.0 75.0 81.0 14 100992227 2203 4300 6503 SO:0001819 synonymous_variant BC007953 CCDS32157.1 14q32.32 2013-01-09 ENSG00000176473 """WD repeat domain containing""" 21064 protein-coding gene gene with protein product """chromosome 14 open reading frame 67""" C14orf67 15587985 Standard NM_001161476 Approved MGC4645 uc001yhn.3 Q64LD2 ENST00000335290.6:c.1122G>A 14.37:g.100992227G>A A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5 ENST00000335290.6 37 CCDS32157.1 WDR25-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414312.1 7.483996 0 -11 57 0 0 1 0 NM_024515 4 10.235947 21 0.160000 C4orf32 132720 broad.mit.edu hg19 4 113107979 113107979 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:113107979G>A ENST00000309733.5 + 2 468 c.284G>A c.(283-285)cGa>cAa p.R95Q NM_152400.2 NP_689613.1 Q8N8J7 CD032_HUMAN chromosome 4 open reading frame 32 integral to membrane Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00198) TTTGGAGAACGAATAGTGGAA 0.413 0 246.0 233.0 237.0 4 113107979 2203 4300 6503 SO:0001583 missense AK096689 CCDS3695.1 4q25 2008-02-05 ENSG00000174749 ENSG00000174749 26813 protein-coding gene gene with protein product 12477932 Standard NM_152400 Approved FLJ39370 uc003iah.2 Q8N8J7 OTTHUMG00000132851 ENST00000309733.5:c.284G>A 4.37:g.113107979G>A ENSP00000310182:p.Arg95Gln Q49A91|Q4W5C7|Q8TBF9 ENST00000309733.5 37 CCDS3695.1 . . . . . . . . . . G 14.33 2.501929 0.44455 . . ENSG00000174749 ENST00000309733 T 0.48522 0.81 5.71 3.92 0.45320 . 0.345720 0.31589 N 0.007398 T 0.29491 0.0735 N 0.22421 0.69 0.43137 D 0.994883 B 0.26258 0.145 B 0.17722 0.019 T 0.06058 -1.0848 10 0.20046 T 0.44 -2.9118 9.6288 0.39768 0.0751:0.0:0.7831:0.1418 . 95 Q8N8J7 CD032_HUMAN Q 95 ENSP00000310182:R95Q ENSP00000310182:R95Q R + 2 0 C4orf32 113327428 1.000000 0.71417 0.991000 0.47740 0.988000 0.76386 3.202000 0.51067 0.698000 0.31739 0.585000 0.79938 CGA C4orf32-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256325.2 58.067861 0 -18 178 0 0 1 0 NM_152400 26 70.817709 113 0.187050 OXLD1 339229 broad.mit.edu hg19 17 79632514 79632514 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:79632514C>T ENST00000374741.3 - 2 171 c.161G>A c.(160-162)cGc>cAc p.R54H OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR NM_001039842.1 NP_001034931.1 oxidoreductase-like domain containing 1 GAATTTTCTGCGCCCATCAGG 0.672 0 37.0 40.0 39.0 17 79632514 2203 4298 6501 SO:0001583 missense CCDS32766.1 17q25.3 2012-07-20 2012-07-20 2012-07-20 ENSG00000204237 ENSG00000204237 27901 protein-coding gene gene with protein product """chromosome 17 open reading frame 90""" C17orf90 Standard NM_001039842 Approved MGC104712 uc002kba.3 Q5BKU9 OTTHUMG00000178063 ENST00000374741.3:c.161G>A 17.37:g.79632514C>T ENSP00000363873:p.Arg54His A6ND24 ENST00000374741.3 37 CCDS32766.1 . . . . . . . . . . C 8.849 0.944049 0.18281 . . ENSG00000204237 ENST00000374741 . . . 3.82 -7.49 0.01355 . 1.052130 0.07613 N 0.925722 T 0.17323 0.0416 N 0.05124 -0.11 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.32348 -0.9910 9 0.17832 T 0.49 -2.5493 9.9797 0.41806 0.1064:0.6937:0.0:0.2 . 54 Q5BKU9 CQ090_HUMAN H 54 . ENSP00000363873:R54H R - 2 0 C17orf90 77242919 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -3.118000 0.00596 -1.833000 0.01195 -0.137000 0.14449 CGC OXLD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440380.1 4.774666 0 -1 68 0 0 1 0 NM_001039842 4 10.156218 32 0.111111 MAN1A1 4121 broad.mit.edu hg19 6 119509576 119509576 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:119509576G>A ENST00000368468.3 - 11 2154 c.1713C>T c.(1711-1713)gcC>gcT p.A571A NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 571 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TCACCTCTACGGCTTCCCAGG 0.348 0 133.0 134.0 133.0 6 119509576 2203 4300 6503 SO:0001819 synonymous_variant AK025599 CCDS5122.1 6q22 2008-08-29 ENSG00000111885 ENSG00000111885 6821 protein-coding gene gene with protein product 604344 8223597 Standard NM_005907 Approved uc003pym.2 P33908 OTTHUMG00000015472 ENST00000368468.3:c.1713C>T 6.37:g.119509576G>A E7EU32|Q6P052|Q9NU44|Q9UJI3 ENST00000368468.3 37 CCDS5122.1 MAN1A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042015.1 20.744504 0 2 104 0 0 1 0 NM_005907 12 31.535716 74 0.139535 FBXO46 23403 broad.mit.edu hg19 19 46216077 46216077 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:46216077C>T ENST00000317683.3 - 2 810 c.677G>A c.(676-678)cGt>cAt p.R226H NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 226 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) CTCGGCTACACGGCTGCAGTC 0.701 0 20.0 24.0 23.0 19 46216077 2015 4146 6161 SO:0001583 missense BC021978 CCDS46116.1 19q13.3 2008-02-05 2004-06-15 2004-06-16 ENSG00000177051 """F-boxes / ""other""""" 25069 protein-coding gene gene with protein product 609117 """F-box only protein 34-like""" FBXO34L 9585442 Standard NM_001080469 Approved 20D7-FC4, Fbx46 uc002pcz.3 Q6PJ61 ENST00000317683.3:c.677G>A 19.37:g.46216077C>T ENSP00000410007:p.Arg226His ENST00000317683.3 37 CCDS46116.1 . . . . . . . . . . C 13.62 2.292612 0.40594 . . ENSG00000177051 ENST00000317683 . . . 4.89 3.86 0.44501 . . . . . T 0.44265 0.1285 L 0.46157 1.445 0.34418 D 0.697129 B 0.29232 0.238 B 0.22601 0.04 T 0.57323 -0.7831 8 0.72032 D 0.01 -5.7976 10.954 0.47347 0.0:0.9082:0.0:0.0918 . 226 Q6PJ61 FBX46_HUMAN H 226 . ENSP00000410007:R226H R - 2 0 FBXO46 50907917 0.978000 0.34361 0.810000 0.32431 0.142000 0.21351 3.564000 0.53791 1.077000 0.40990 -0.251000 0.11542 CGT FBXO46-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459661.1 7.851637 0 -25 23 0 0 1 0 XM_371179 5 12.153725 30 0.142857 SLCO2B1 11309 broad.mit.edu hg19 11 74907638 74907638 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:74907638G>A ENST00000289575.5 + 10 1908 c.1513G>A c.(1513-1515)Gac>Aac p.D505N SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D278N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D361N|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D278N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D483N|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D389N|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.D250N NM_007256.4 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 505 Kazal-like. sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 CCCTGTCTGCGACCCCAGCAC 0.617 0 78.0 66.0 70.0 11 74907638 2200 4293 6493 SO:0001583 missense AB026256 CCDS8235.1, CCDS44683.1, CCDS53679.1 11q13 2013-05-22 2003-11-25 2003-11-26 """Solute carriers""" 10962 protein-coding gene gene with protein product 604988 """solute carrier family 21 (organic anion transporter), member 9""" SLC21A9 Standard NM_007256 Approved OATP-B, OATP2B1 uc001owb.3 O94956 ENST00000531756.1:c.748G>A 11.37:g.74907638G>A ENSP00000432650:p.Asp250Asn A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1 ENST00000531756.1 37 . . . . . . . . . . G 16.12 3.032254 0.54790 . . ENSG00000137491 ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359 T;T;T;T;T;T;T 0.42900 1.12;1.14;1.26;1.5;0.96;1.14;1.13 4.22 4.22 0.49857 Major facilitator superfamily domain, general substrate transporter (1); 0.203908 0.43110 D 0.000612 T 0.36386 0.0965 L 0.43152 1.355 0.43043 D 0.994635 P;P;P;P 0.46784 0.678;0.843;0.884;0.678 B;B;B;B 0.41571 0.254;0.36;0.245;0.254 T 0.36986 -0.9725 10 0.66056 D 0.02 . 12.2779 0.54747 0.0:0.0:1.0:0.0 . 361;250;278;505 E9PPU8;E9PPJ4;O94956-2;O94956 .;.;.;SO2B1_HUMAN N 505;278;389;250;361;278;483 ENSP00000289575:D505N;ENSP00000341286:D278N;ENSP00000434112:D389N;ENSP00000432650:D250N;ENSP00000436324:D361N;ENSP00000389653:D278N;ENSP00000388912:D483N ENSP00000289575:D505N D + 1 0 SLCO2B1 74585286 1.000000 0.71417 0.292000 0.24919 0.598000 0.36846 6.305000 0.72805 2.367000 0.80283 0.555000 0.69702 GAC SLCO2B1-004 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000383935.1 45.188018 0 -9 49 0 0 1 0 NM_007256 16 46.014927 29 0.355556 COL5A1 1289 broad.mit.edu hg19 9 137712052 137712052 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:137712052G>A ENST00000371817.3 + 58 4951 c.4537G>A c.(4537-4539)Ggt>Agt p.G1513S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1513 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGCTCCTCCGGTCCTAAGGG 0.637 0 70.0 66.0 68.0 9 137712052 2203 4300 6503 SO:0001583 missense D90279 CCDS6982.1, CCDS75932.1 9q34.2-q34.3 2014-09-17 ENSG00000130635 ENSG00000130635 """Collagens""" 2209 protein-coding gene gene with protein product """alpha 1 type V collagen""" 120215 1572660 Standard NM_001278074 Approved uc031tfl.1 P20908 OTTHUMG00000020891 ENST00000371817.3:c.4537G>A 9.37:g.137712052G>A ENSP00000360882:p.Gly1513Ser Q15094|Q5SUX4 ENST00000371817.3 37 CCDS6982.1 . . . . . . . . . . G 14.77 2.634724 0.47049 . . ENSG00000130635 ENST00000371817;ENST00000355306 D 0.99607 -6.27 4.69 3.78 0.43462 . 0.000000 0.85682 U 0.000000 D 0.99687 0.9882 H 0.94503 3.545 0.58432 D 0.999999 D 0.89917 1.0 D 0.91635 0.999 D 0.97889 1.0296 10 0.87932 D 0 . 12.4942 0.55918 0.0821:0.0:0.9179:0.0 . 1513 P20908 CO5A1_HUMAN S 1513;50 ENSP00000360882:G1513S ENSP00000347458:G50S G + 1 0 COL5A1 136851873 1.000000 0.71417 0.385000 0.26158 0.170000 0.22686 9.713000 0.98740 0.946000 0.37632 0.643000 0.83706 GGT COL5A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054954.2 17.308735 0 -15 48 0 0 1 0 NM_000093 7 19.449321 24 0.225806 PANK4 55229 broad.mit.edu hg19 1 2445850 2445850 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:2445850G>A ENST00000378466.3 - 11 1442 c.1430C>T c.(1429-1431)gCg>gTg p.A477V PANK4_ENST00000435556.3_Missense_Mutation_p.A438V NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 477 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GAACTTCTCCGCCCTCTCGGC 0.622 0 61.0 63.0 62.0 1 2445850 2203 4300 6503 SO:0001583 missense AK001644 CCDS42.1 1p36.32 2008-02-05 ENSG00000157881 ENSG00000157881 19366 protein-coding gene gene with protein product 606162 11479594 Standard XR_241034 Approved FLJ10782 uc001ajm.1 Q9NVE7 OTTHUMG00000000791 ENST00000378466.3:c.1430C>T 1.37:g.2445850G>A ENSP00000367727:p.Ala477Val B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5 ENST00000378466.3 37 CCDS42.1 . . . . . . . . . . g 19.74 3.883731 0.72410 . . ENSG00000157881 ENST00000378466;ENST00000435556 T;T 0.16196 2.36;2.36 5.1 5.1 0.69264 Domain of unknown function DUF89 (2); 0.000000 0.85682 D 0.000000 T 0.47248 0.1435 M 0.83603 2.65 0.80722 D 1 D;D 0.89917 1.0;0.999 D;D 0.85130 0.997;0.968 T 0.53265 -0.8463 10 0.72032 D 0.01 -18.1651 17.482 0.87675 0.0:0.0:1.0:0.0 . 438;477 E9PHT6;Q9NVE7 .;PANK4_HUMAN V 477;438 ENSP00000367727:A477V;ENSP00000421433:A438V ENSP00000367727:A477V A - 2 0 PANK4 2435710 1.000000 0.71417 0.941000 0.38009 0.023000 0.10783 9.173000 0.94815 2.388000 0.81334 0.556000 0.70494 GCG PANK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000002082.1 44.486467 0 -24 82 0 0 1 0 16 45.543904 31 0.340426 TRIM56 81844 broad.mit.edu hg19 7 100731056 100731056 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:100731056G>A ENST00000306085.6 + 3 760 c.463G>A c.(463-465)Ggg>Agg p.G155R NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 155 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) CTACAGGGCCGGGTGGTATGA 0.701 0 11.0 15.0 14.0 7 100731056 1999 4143 6142 SO:0001583 missense BK000511 CCDS43625.1 7q11.2 2013-01-09 2011-01-25 ENSG00000169871 ENSG00000169871 """Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers""" 19028 protein-coding gene gene with protein product """tripartite motif-containing 56""" Standard NM_030961 Approved RNF109 uc003uxq.3 Q9BRZ2 OTTHUMG00000157032 ENST00000306085.6:c.463G>A 7.37:g.100731056G>A ENSP00000305161:p.Gly155Arg Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031 ENST00000306085.6 37 CCDS43625.1 . . . . . . . . . . G 13.87 2.364795 0.41902 . . ENSG00000169871 ENST00000306085;ENST00000412507 T;T 0.47528 0.84;1.26 3.99 3.99 0.46301 . 0.153396 0.30742 N 0.008966 T 0.56485 0.1988 L 0.54965 1.715 0.25879 N 0.983618 D;D 0.76494 0.999;0.999 P;D 0.64042 0.902;0.921 T 0.45527 -0.9255 10 0.20046 T 0.44 . 11.893 0.52641 0.0:0.0:1.0:0.0 . 155;155 C9JI91;Q9BRZ2 .;TRI56_HUMAN R 155 ENSP00000305161:G155R;ENSP00000404186:G155R ENSP00000305161:G155R G + 1 0 TRIM56 100517776 1.000000 0.71417 0.473000 0.27253 0.510000 0.34073 3.342000 0.52159 2.501000 0.84356 0.655000 0.94253 GGG TRIM56-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347185.1 14.470644 0 -3 19 0 0 1 0 NM_030961 5 14.970580 11 0.312500 HSD17B1 3292 broad.mit.edu hg19 17 40706497 40706497 + Missense_Mutation SNP T T C TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:40706497T>C ENST00000585807.1 + 5 4334 c.614T>C c.(613-615)cTg>cCg p.L205P RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.L206P|RP11-400F19.6_ENST00000590513.1_RNA NM_000413.2 NP_000404.2 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 205 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity NS(1)|endometrium(1)|kidney(1)|lung(2) 5 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) GAGGAGGTGCTGGACCGCACG 0.637 0 61.0 47.0 52.0 17 40706497 2203 4300 6503 SO:0001583 missense CCDS11428.1 17q11-q21 2011-09-14 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2""" 5210 protein-coding gene gene with protein product """Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1""" 109684 EDHB17, EDH17B2 2330005, 19027726 Standard NM_000413 Approved HSD17, MGC138140, SDR28C1 uc002hzw.3 P14061 ENST00000585807.1:c.614T>C 17.37:g.40706497T>C ENSP00000466799:p.Leu205Pro B3KXS1|Q2M2L8 ENST00000585807.1 37 CCDS11428.1 . . . . . . . . . . T 17.89 3.500208 0.64298 . . ENSG00000108786 ENST00000225929 . . . 4.32 4.32 0.51571 NAD(P)-binding domain (1); 0.562171 0.17562 N 0.169795 T 0.66519 0.2797 M 0.62723 1.935 0.58432 D 0.999998 D;P 0.59357 0.985;0.709 P;B 0.58266 0.836;0.147 T 0.66280 -0.5963 9 0.46703 T 0.11 . 9.7863 0.40677 0.0:0.0:0.0:1.0 . 236;205 B3RFR9;P14061 .;DHB1_HUMAN P 205 . ENSP00000225929:L205P L + 2 0 HSD17B1 37960023 1.000000 0.71417 0.491000 0.27477 0.050000 0.14768 3.004000 0.49513 1.830000 0.53286 0.402000 0.26972 CTG HSD17B1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000450392.1 36.831545 0 5 29 0 0 1 0 NM_000413 11 37.333465 5 0.687500 GABRD 2563 hgsc.bcm.edu hg19 1 1961509 1961509 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 G G . . . . Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe GCAGCGCCGCGTCCCGGGGAA 0.692 0 24.0 28.0 26.0 1 1961509 2199 4294 6493 SO:0001583 missense BC033801 CCDS36.1 1p36.3 2012-06-22 ENSG00000187730 ENSG00000187730 """GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors""" 4084 protein-coding gene gene with protein product """GABA(A) receptor, delta""" 137163 2176788, 10965146 Standard NM_000815 Approved uc001aip.2 O14764 OTTHUMG00000041064 ENST00000378585.4:c.1147G>A 1.37:g.1961509G>A ENSP00000367848:p.Val383Ile Q8N4N9 ENST00000378585.4 37 CCDS36.1 . . . . . . . . . . G 0.343 -0.949286 0.02304 . . ENSG00000187730 ENST00000378585 D 0.85773 -2.03 3.82 -7.14 0.01527 Neurotransmitter-gated ion-channel transmembrane domain (2); 2.625020 0.01431 N 0.014756 T 0.63390 0.2507 N 0.03608 -0.345 0.09310 N 1 B 0.06786 0.001 B 0.06405 0.002 T 0.56294 -0.8003 10 0.32370 T 0.25 -19.1726 4.0475 0.09779 0.5989:0.1211:0.158:0.122 . 383 O14764 GBRD_HUMAN I 383 ENSP00000367848:V383I ENSP00000367848:V383I V + 1 0 GABRD 1951369 0.000000 0.05858 0.000000 0.03702 0.524000 0.34500 -1.926000 0.01562 -1.457000 0.01919 -0.332000 0.08345 GTC GABRD-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000098493.1 -8 47 NM_000815 9 25 REC8 9985 broad.mit.edu hg19 14 24642157 24642157 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:24642157G>A ENST00000311457.3 + 4 774 c.175G>A c.(175-177)Ggc>Agc p.G59S REC8_ENST00000559919.1_Missense_Mutation_p.G59S O95072 REC8_HUMAN REC8 meiotic recombination protein 59 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) CCCGCAGCCCGGCCTGCCGCG 0.607 0 54.0 63.0 60.0 14 24642157 1971 4132 6103 SO:0001583 missense AF006264 CCDS41932.1 14q11.2-q12 2013-08-06 2013-08-06 2007-04-03 ENSG00000100918 16879 protein-coding gene gene with protein product 608193 """REC8-like 1 (yeast)"", ""REC8 homolog (yeast)""" REC8L1 10207075, 15935783, 12759374 Standard NM_005132 Approved Rec8p, kleisin-alpha uc001wms.3 O95072 ENST00000311457.3:c.175G>A 14.37:g.24642157G>A ENSP00000308699:p.Gly59Ser A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9 ENST00000311457.3 37 CCDS41932.1 . . . . . . . . . . G 28.6 4.933634 0.92458 . . ENSG00000100918 ENST00000311457;ENST00000447460 T 0.24723 1.84 5.39 4.5 0.54988 Rad21/Rec8-like protein, N-terminal (1); 0.114287 0.64402 N 0.000014 T 0.23688 0.0573 L 0.27053 0.805 0.39814 D 0.972744 D;D 0.56287 0.957;0.975 B;P 0.49922 0.336;0.626 T 0.03354 -1.1045 10 0.23302 T 0.38 -12.6272 11.2615 0.49085 0.0868:0.0:0.9132:0.0 . 59;59 O95072-2;O95072 .;REC8_HUMAN S 59 ENSP00000308699:G59S ENSP00000308699:G59S G + 1 0 REC8 23711997 0.948000 0.32251 0.773000 0.31616 0.922000 0.55478 2.279000 0.43435 1.253000 0.44018 0.561000 0.74099 GGC REC8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415889.3 21.057322 0 -22 39 0 0 1 0 NM_005132 9 24.219610 33 0.214286 RAC3 5881 broad.mit.edu hg19 17 79990655 79990655 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:79990655C>T ENST00000306897.4 + 3 314 c.176C>T c.(175-177)gCg>gTg p.A59V NM_005052.2 NP_005043.1 P60763 RAC3_HUMAN ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 59 actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane GTP binding|GTPase activity|protein binding NS(1)|kidney(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TGGGACACAGCGGGTCAGGAG 0.617 0 82.0 82.0 82.0 17 79990655 2203 4300 6503 SO:0001583 missense AF008591 CCDS11798.1 17q25.3 2014-01-30 ENSG00000169750 """Endogenous ligands""" 9803 protein-coding gene gene with protein product 602050 Standard NM_005052 Approved uc002kdf.3 P60763 ENST00000306897.4:c.176C>T 17.37:g.79990655C>T ENSP00000304283:p.Ala59Val O14658|Q5U0M8 ENST00000306897.4 37 CCDS11798.1 . . . . . . . . . . C 27.1 4.800053 0.90538 . . ENSG00000169750 ENST00000306897 D 0.88818 -2.43 3.79 3.79 0.43588 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.96497 0.8857 H 0.99507 4.6 0.80722 D 1 D 0.56746 0.977 P 0.58266 0.836 D 0.98660 1.0683 9 . . . . 15.8343 0.78787 0.0:1.0:0.0:0.0 . 59 P60763 RAC3_HUMAN V 59 ENSP00000304283:A59V . A + 2 0 RAC3 77583944 1.000000 0.71417 0.067000 0.19924 0.647000 0.38526 5.585000 0.67497 1.935000 0.56089 0.561000 0.74099 GCG RAC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442064.1 27.569897 0 -20 86 0 0 1 0 12 31.987486 45 0.210526 MYBPC2 4606 broad.mit.edu hg19 19 50958853 50958853 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:50958853G>A ENST00000357701.5 + 20 2341 c.2290G>A c.(2290-2292)Ggg>Agg p.G764R NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 764 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GAACAGGATCGGGGCAGGTGG 0.612 0 78.0 84.0 82.0 19 50958853 2046 4194 6240 SO:0001583 missense CCDS46152.1 19q13.33 2013-02-11 2001-11-28 ENSG00000086967 ENSG00000086967 """Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing""" 7550 protein-coding gene gene with protein product """fast-type muscle myosin-binding-protein C""" 160793 """myosin-binding protein C, fast-type""" 8375400 Standard NM_004533 Approved MYBPCF, MYBPC, MGC163408 uc002psf.2 Q14324 ENST00000357701.5:c.2290G>A 19.37:g.50958853G>A ENSP00000350332:p.Gly764Arg A1L4G9 ENST00000357701.5 37 CCDS46152.1 . . . . . . . . . . g 25.6 4.650724 0.87958 . . ENSG00000086967 ENST00000357701 T 0.56776 0.44 4.38 4.38 0.52667 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.34067 U 0.004290 T 0.74966 0.3786 M 0.86178 2.8 0.54753 D 0.999987 D 0.89917 1.0 D 0.97110 1.0 T 0.79470 -0.1790 10 0.54805 T 0.06 . 16.1092 0.81247 0.0:0.0:1.0:0.0 . 764 Q14324 MYPC2_HUMAN R 764 ENSP00000350332:G764R ENSP00000350332:G764R G + 1 0 MYBPC2 55650665 1.000000 0.71417 0.995000 0.50966 0.985000 0.73830 8.851000 0.92205 2.187000 0.69744 0.454000 0.30748 GGG MYBPC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464751.1 47.649383 0 5 103 0 0 1 0 NM_004533 17 50.496237 45 0.274194 GSR 2936 broad.mit.edu hg19 8 30541683 30541683 + Missense_Mutation SNP C C T rs138721223 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:30541683C>T ENST00000221130.5 - 10 1165 c.1075G>A c.(1075-1077)Gta>Ata p.V359I GSR_ENST00000546342.1_Missense_Mutation_p.V330I|GSR_ENST00000414019.1_Missense_Mutation_p.V316I|GSR_ENST00000537535.1_Missense_Mutation_p.V277I|GSR_ENST00000541648.1_Missense_Mutation_p.V306I NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 359 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) AATTCGTCTACGATGATATGA 0.423 0 314.0 258.0 277.0 8 30541683 2203 4300 6503 SO:0001583 missense CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1 8p21.1 2012-10-02 ENSG00000104687 ENSG00000104687 4623 protein-coding gene gene with protein product 138300 Standard NM_000637 Approved uc003xih.2 P00390 OTTHUMG00000163946 ENST00000221130.5:c.1075G>A 8.37:g.30541683C>T ENSP00000221130:p.Val359Ile C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63 ENST00000221130.5 37 CCDS34877.1 2 9.157509157509158E-4 2 0.0040650406504065045 0 0.0 0 0.0 0 0.0 C 20.7 4.037543 0.75617 2.27E-4 0.0 ENSG00000104687 ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535 T;T;T;T;T 0.62364 0.03;0.03;0.03;0.03;0.03 5.77 5.77 0.91146 Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1); 0.052405 0.85682 D 0.000000 T 0.77870 0.4195 L 0.61036 1.89 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 T 0.78927 -0.2011 10 0.87932 D 0 -27.7358 17.5536 0.87884 0.0:1.0:0.0:0.0 . 359 P00390 GSHR_HUMAN I 359;316;330;306;277 ENSP00000221130:V359I;ENSP00000390065:V316I;ENSP00000445516:V330I;ENSP00000444559:V306I;ENSP00000438845:V277I ENSP00000221130:V359I V - 1 0 GSR 30661225 1.000000 0.71417 0.147000 0.22382 0.242000 0.25591 7.075000 0.76798 2.743000 0.94032 0.644000 0.83932 GTA GSR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376519.1 101.859858 0 -23 127 0 0 1 0 33 102.620833 50 0.397590 AP3D1 8943 broad.mit.edu hg19 19 2118737 2118737 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:2118737C>T ENST00000355272.6 - 15 1782 c.1576G>A c.(1576-1578)Gtg>Atg p.V526M AP3D1_ENST00000356926.4_Missense_Mutation_p.V435M|AP3D1_ENST00000345016.5_Missense_Mutation_p.V526M|AP3D1_ENST00000350812.6_Missense_Mutation_p.V357M NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 526 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTTGACCACGTTCTGCACA 0.652 0 58.0 65.0 63.0 19 2118737 2197 4297 6494 SO:0001583 missense U91930 CCDS42459.1, CCDS58638.1 19p13.3 2014-09-04 ENSG00000065000 ENSG00000065000 568 protein-coding gene gene with protein product 607246 9151686, 9303295 Standard NM_003938 Approved ADTD uc002lva.4 O14617 OTTHUMG00000180354 ENST00000355272.6:c.1576G>A 19.37:g.2118737C>T ENSP00000347416:p.Val526Met O00202|O75262|Q59HF5|Q96G11|Q9H3C6 ENST00000355272.6 37 CCDS58638.1 . . . . . . . . . . C 13.07 2.126098 0.37533 0.0 2.33E-4 ENSG00000065000 ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812 T;T;T;T 0.13778 2.56;2.56;2.56;2.56 4.82 3.55 0.40652 Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1); 0.249984 0.40302 N 0.001127 T 0.11750 0.0286 L 0.49571 1.57 0.40710 D 0.982562 P;P;P 0.41265 0.676;0.709;0.744 B;B;B 0.34590 0.101;0.157;0.186 T 0.04693 -1.0933 10 0.56958 D 0.05 -44.5581 9.6945 0.40150 0.0:0.8407:0.0:0.1593 . 526;526;435 O14617-5;O14617;G5E988 .;AP3D1_HUMAN;. M 435;526;526;526;357 ENSP00000349398:V435M;ENSP00000344055:V526M;ENSP00000347416:V526M;ENSP00000342321:V357M ENSP00000341579:V526M V - 1 0 AP3D1 2069737 0.996000 0.38824 1.000000 0.80357 0.771000 0.43674 3.004000 0.49513 2.239000 0.73571 0.561000 0.74099 GTG AP3D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450910.2 19.380470 0 -14 26 0 0 1 0 8 22.128886 29 0.216216 CAMSAP1 157922 broad.mit.edu hg19 9 138713079 138713079 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:138713079C>T ENST00000389532.4 - 11 3492 c.3428G>A c.(3427-3429)cGg>cAg p.R1143Q CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1154Q|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R865Q NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1143 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CGTGGGCGTCCGAGGGTGGCT 0.607 0 60.0 74.0 69.0 9 138713079 2203 4300 6503 SO:0001583 missense AJ519841 CCDS35176.2 9q34.3 2008-02-05 ENSG00000130559 ENSG00000130559 19946 protein-coding gene gene with protein product 613774 12477932 Standard NM_015447 Approved FLJ31228, DKFZp434F195 uc004cgr.4 Q5T5Y3 OTTHUMG00000020918 ENST00000389532.4:c.3428G>A 9.37:g.138713079C>T ENSP00000374183:p.Arg1143Gln A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5 ENST00000389532.4 37 CCDS35176.2 . . . . . . . . . . C 7.177 0.588804 0.13812 . . ENSG00000130559 ENST00000389532;ENST00000312405;ENST00000409386 T;T;T 0.12984 2.63;2.63;2.63 5.29 5.29 0.74685 . 1.087730 0.06978 N 0.819294 T 0.12050 0.0293 L 0.48362 1.52 0.24121 N 0.995802 P;P 0.43094 0.762;0.799 B;B 0.30572 0.057;0.117 T 0.23332 -1.0191 10 0.87932 D 0 . 7.2277 0.26024 0.0:0.7903:0.0:0.2097 . 1143;1154 Q5T5Y3;Q5T5Y3-3 CAMP1_HUMAN;. Q 1143;865;1154 ENSP00000374183:R1143Q;ENSP00000312463:R865Q;ENSP00000386420:R1154Q ENSP00000312463:R865Q R - 2 0 CAMSAP1 137852900 0.097000 0.21791 0.068000 0.19968 0.087000 0.18053 0.464000 0.21988 2.620000 0.88729 0.561000 0.74099 CGG CAMSAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055024.2 99.126003 0 -20 83 0 0 1 0 XM_351857 31 99.126003 31 0.500000 CSMD2 114784 broad.mit.edu hg19 1 34090146 34090146 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:34090146G>A ENST00000373381.4 - 35 5774 c.5598C>T c.(5596-5598)atC>atT p.I1866I CSMD2_ENST00000373380.1_Silent_p.I739I|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1826 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGGGGACCACGATCTTCCACA 0.647 0 129.0 106.0 114.0 1 34090146 2203 4300 6503 SO:0001819 synonymous_variant AY210418 CCDS380.1, CCDS60082.1 1p34.3 2014-01-28 ENSG00000121904 ENSG00000121904 19290 protein-coding gene gene with protein product 608398 11472063, 11572484 Standard NM_001281956 Approved KIAA1884 uc001bxn.1 Q7Z408 OTTHUMG00000011135 ENST00000373380.1:c.2217C>T 1.37:g.34090146G>A B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7 ENST00000373380.1 37 CSMD2-002 KNOWN basic protein_coding protein_coding OTTHUMT00000030635.4 17.372585 0 -13 71 0 0 1 0 NM_052896 8 21.988193 38 0.173913 RNASEH2A 10535 broad.mit.edu hg19 19 12918311 12918311 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:12918311C>T ENST00000221486.4 + 4 496 c.402C>T c.(400-402)aaC>aaT p.N134N NM_006397.2 NP_006388.2 O75792 RNH2A_HUMAN ribonuclease H2, subunit A 134 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex metal ion binding|ribonuclease H activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 AGGGCGTGAACGTCACCCAGG 0.498 0 130.0 113.0 119.0 19 12918311 2203 4300 6503 SO:0001819 synonymous_variant Z97029 CCDS12282.1 19p13.13 2014-09-17 2006-08-17 ENSG00000104889 18518 protein-coding gene gene with protein product 606034 """ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4""" 9789007, 16845400 Standard NM_006397 Approved RNASEHI, RNHIA, RNHL, AGS4 uc002mvg.1 O75792 ENST00000221486.4:c.402C>T 19.37:g.12918311C>T B2RCY1|Q96F11 ENST00000221486.4 37 CCDS12282.1 RNASEH2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451507.1 93.779269 0 -3 67 0 0 1 0 NM_006397 29 93.988405 22 0.568627 BRD4 23476 broad.mit.edu hg19 19 15364970 15364970 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:15364970G>A ENST00000263377.2 - 11 2372 c.2151C>T c.(2149-2151)tcC>tcT p.S717S BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 717 Ser-rich. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) AACCTGTTTCGGAGTCTTCGC 0.542 0 76.0 66.0 70.0 19 15364970 2203 4300 6503 SO:0001819 synonymous_variant Y12059 CCDS12328.1, CCDS46004.1 19p13.12 2013-09-20 2002-01-14 ENSG00000141867 ENSG00000141867 13575 protein-coding gene gene with protein product """chromosome-associated protein""" 608749 """bromodomain-containing 4""" 10938129 Standard NM_058243 Approved HUNKI, MCAP, CAP, HUNK1 uc002nar.3 O60885 OTTHUMG00000183252 ENST00000263377.2:c.2151C>T 19.37:g.15364970G>A O60433|Q4G0X8|Q86YS8|Q96PD3 ENST00000263377.2 37 CCDS12328.1 BRD4-001 KNOWN overlapping_uORF|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000465800.3 7.216647 0 -10 16 0 0 1 0 NM_058243 3 8.471963 12 0.200000 DDHD2 23259 broad.mit.edu hg19 8 38095674 38095674 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:38095674G>A ENST00000397166.2 + 5 1094 c.569G>A c.(568-570)cGa>cAa p.R190Q DDHD2_ENST00000520272.2_Missense_Mutation_p.R190Q NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 190 lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GAGCAGGGTCGACCAAGAACT 0.398 0 230.0 208.0 215.0 8 38095674 2203 4300 6503 SO:0001583 missense AK056525 CCDS34883.1 8p11.23 2014-03-03 2004-04-05 2004-04-07 """Sterile alpha motif (SAM) domain containing""" 29106 protein-coding gene gene with protein product 615003 """SAM, WWE and DDHD domain containing 1""" SAMWD1 9872452, 11788596, 19632984, 20932832 Standard NM_015214 Approved KIAA0725, SPG54 uc003xlc.3 O94830 ENST00000397166.2:c.569G>A 8.37:g.38095674G>A ENSP00000380352:p.Arg190Gln B3KWV2|B3KXB5|Q9H8X7 ENST00000397166.2 37 CCDS34883.1 . . . . . . . . . . G 36 5.678988 0.96764 . . ENSG00000085788 ENST00000397166;ENST00000532222;ENST00000520272 T;T;T 0.35973 1.28;1.28;1.28 5.91 5.91 0.95273 . 0.000000 0.85682 D 0.000000 T 0.56978 0.2022 L 0.50847 1.595 0.80722 D 1 P;D 0.89917 0.796;1.0 B;D 0.80764 0.126;0.994 T 0.52260 -0.8599 10 0.52906 T 0.07 -12.3436 19.3432 0.94352 0.0:0.0:1.0:0.0 . 190;190 O94830;E9PKE6 DDHD2_HUMAN;. Q 190 ENSP00000380352:R190Q;ENSP00000433578:R190Q;ENSP00000429932:R190Q ENSP00000380352:R190Q R + 2 0 DDHD2 38214831 1.000000 0.71417 1.000000 0.80357 0.861000 0.49209 9.475000 0.97721 2.812000 0.96745 0.558000 0.71614 CGA DDHD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377251.2 111.427057 0 -9 106 0 0 1 0 XM_291291 35 111.427057 35 0.500000 CACHD1 57685 broad.mit.edu hg19 1 65141094 65141094 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:65141094C>T ENST00000371073.2 + 20 2738 c.2738C>T c.(2737-2739)aCg>aTg p.T913M CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.T862M Q5VU97 CAHD1_HUMAN cache domain containing 1 913 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GGGGATTTGACGAACCTTGTG 0.463 0 134.0 123.0 127.0 1 65141094 2203 4300 6503 SO:0001583 missense AB046793 CCDS628.2 1p31.3 2008-02-05 2005-10-11 2005-10-11 ENSG00000158966 ENSG00000158966 29314 protein-coding gene gene with protein product """von Willebrand factor type A and cache domain containing 1""" VWCD1 10997877 Standard NM_020925 Approved KIAA1573 uc001dbo.1 Q5VU97 OTTHUMG00000009030 ENST00000290039.5:c.2585C>T 1.37:g.65141094C>T ENSP00000290039:p.Thr862Met Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9 ENST00000290039.5 37 CCDS628.2 1 4.578754578754579E-4 0 0.0 1 0.0027624309392265192 0 0.0 0 0.0 C 20.7 4.031369 0.75504 . . ENSG00000158966 ENST00000371073;ENST00000290039 T;T 0.27720 1.65;1.66 5.85 5.85 0.93711 . 0.132555 0.64402 D 0.000002 T 0.25121 0.0610 M 0.67397 2.05 0.80722 D 1 P 0.51240 0.943 B 0.37304 0.246 T 0.26780 -1.0093 10 0.72032 D 0.01 -20.5642 20.1634 0.98142 0.0:1.0:0.0:0.0 . 913 Q5VU97 CAHD1_HUMAN M 913;862 ENSP00000360113:T913M;ENSP00000290039:T862M ENSP00000290039:T862M T + 2 0 CACHD1 64913682 1.000000 0.71417 0.984000 0.44739 0.798000 0.45092 7.304000 0.78882 2.773000 0.95371 0.655000 0.94253 ACG CACHD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025238.1 14.896492 0 8 90 0 0 1 0 NM_020925 10 25.162122 67 0.129870 KIAA1217 56243 broad.mit.edu hg19 10 24810824 24810824 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:24810824C>T ENST00000376451.2 + 7 1731 c.1471C>T c.(1471-1473)Cgc>Tgc p.R491C KIAA1217_ENST00000376462.1_Missense_Mutation_p.R728C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R808C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R773C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R491C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R773C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000430453.2_Intron Q5T5P2 SKT_HUMAN KIAA1217 808 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GAAGCGTGTGCGCAGCATGAC 0.612 0 61.0 56.0 58.0 10 24810824 2203 4300 6503 SO:0001583 missense BX640796 CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1 10p12.31 2009-09-16 ENSG00000120549 ENSG00000120549 25428 protein-coding gene gene with protein product """sickle tail""" 10574462 Standard XM_005252500 Approved DKFZP761L0424, SKT uc001iru.4 Q5T5P2 OTTHUMG00000017824 ENST00000307544.6:c.1471C>T 10.37:g.24810824C>T ENSP00000302343:p.Arg491Cys A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3 ENST00000307544.6 37 . . . . . . . . . . C 23.3 4.396720 0.83120 . . ENSG00000120549 ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446 T;T;T;T;T;T;T;T;T;T 0.61040 0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14 5.95 4.05 0.47172 . 0.111662 0.64402 D 0.000011 T 0.74627 0.3741 M 0.70275 2.135 0.80722 D 1 D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;D 0.91635 0.999;0.987;0.999;0.996;0.999;0.999;0.998;0.992 T 0.77613 -0.2522 10 0.87932 D 0 . 15.2148 0.73258 0.2575:0.7425:0.0:0.0 . 773;773;491;491;491;491;808;808 Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2 .;.;.;.;.;.;SKT_HUMAN;. C 728;773;773;491;808;773;623;491;491;491;491;491 ENSP00000365645:R728C;ENSP00000365639:R773C;ENSP00000392625:R773C;ENSP00000365637:R808C;ENSP00000365635:R773C;ENSP00000404798:R623C;ENSP00000302343:R491C;ENSP00000379722:R491C;ENSP00000365634:R491C;ENSP00000379723:R491C ENSP00000302343:R491C R + 1 0 KIAA1217 24850830 1.000000 0.71417 0.971000 0.41717 0.893000 0.52053 1.522000 0.35921 0.796000 0.33947 0.563000 0.77884 CGC KIAA1217-001 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000047220.2 54.846785 0 -1 38 0 0 1 0 NM_019590 18 54.896917 21 0.461538 EFNA4 1945 broad.mit.edu hg19 1 155041446 155041446 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:155041446G>A ENST00000368409.3 + 4 680 c.587G>A c.(586-588)cGt>cAt p.R196H EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Intron NM_005227.2 NP_005218.1 ephrin-A4 breast(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CTGATTCTTCGTCTTCTGCGA 0.597 0 122.0 123.0 123.0 1 155041446 2203 4300 6503 SO:0001583 missense AJ006352 CCDS1089.1, CCDS41407.1, CCDS44237.1 1q21-q22 2011-03-09 ENSG00000243364 ENSG00000243364 """Ephrins""" 3224 protein-coding gene gene with protein product 601380 EPLG4 8660976 Standard NM_182690 Approved LERK4 P52798 OTTHUMG00000035309 ENST00000368409.3:c.587G>A 1.37:g.155041446G>A ENSP00000357394:p.Arg196His C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57 ENST00000368409.3 37 CCDS1089.1 . . . . . . . . . . G 14.15 2.449242 0.43531 . . ENSG00000243364 ENST00000368409 D 0.94138 -3.36 5.11 5.11 0.69529 . 0.205916 0.22529 N 0.058864 D 0.91915 0.7440 N 0.19112 0.55 0.80722 D 1 D 0.76494 0.999 D 0.76071 0.987 D 0.92464 0.5980 10 0.49607 T 0.09 . 13.896 0.63773 0.0:0.0:1.0:0.0 . 196 P52798 EFNA4_HUMAN H 196 ENSP00000357394:R196H ENSP00000357394:R196H R + 2 0 EFNA4 153308070 0.989000 0.36119 0.998000 0.56505 0.917000 0.54804 4.168000 0.58216 2.665000 0.90641 0.655000 0.94253 CGT EFNA4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000085421.2 28.103651 0 15 85 0 0 1 0 NM_005227 11 30.603647 33 0.250000 GNA11 2767 broad.mit.edu hg19 19 3115012 3115012 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:3115012C>T ENST00000078429.4 + 4 789 c.547C>T c.(547-549)Cgc>Tgc p.R183C NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 183 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GCTGCGGGTCCGCGTGCCCAC 0.672 5 106.0 97.0 100.0 19 3115012 2203 4299 6502 SO:0001583 missense AF493900 CCDS12103.1 19p13.3 2014-02-04 ENSG00000088256 ENSG00000088256 4379 protein-coding gene gene with protein product 139313 """hypocalciuric hypercalcemia 2""" HHC2 1302014, 23802516 Standard NM_002067 Approved FBH, FBH2, FHH2 uc002lxd.3 P29992 OTTHUMG00000180631 ENST00000078429.4:c.547C>T 19.37:g.3115012C>T ENSP00000078429:p.Arg183Cys O15109|Q14350|Q6IB00 ENST00000078429.4 37 CCDS12103.1 . . . . . . . . . . . 20.4 3.984974 0.74474 . . ENSG00000088256 ENST00000078429 D 0.92199 -2.99 3.92 2.82 0.32997 G protein alpha subunit, helical insertion (1); 0.000000 0.64402 D 0.000007 D 0.97448 0.9165 H 0.99312 4.51 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.96915 0.9670 10 0.87932 D 0 . 10.0525 0.42225 0.4339:0.5661:0.0:0.0 . 183 P29992 GNA11_HUMAN C 183 ENSP00000078429:R183C ENSP00000078429:R183C R + 1 0 GNA11 3066012 0.975000 0.34042 0.981000 0.43875 0.991000 0.79684 2.467000 0.45093 1.752000 0.51891 0.556000 0.70494 CGC GNA11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452261.2 106.340323 0 -27 135 0 0 1 0 NM_002067 34 106.619300 44 0.435897 UNC5CL 222643 broad.mit.edu hg19 6 41000848 41000848 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:41000848C>T ENST00000244565.3 - 4 812 c.724G>A c.(724-726)Gaa>Aaa p.E242K UNC5CL_ENST00000373164.1_Missense_Mutation_p.E242K NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 242 Interaction with RELA and NFKB1. signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) TTGCGGGCTTCGCGCCCCACA 0.602 0 38.0 34.0 36.0 6 41000848 2201 4300 6501 SO:0001583 missense BC035284 CCDS4847.1 6p21.1 2013-10-15 ENSG00000124602 ENSG00000124602 21203 protein-coding gene gene with protein product """ZU5 and death domain containing""" 14769797 Standard NM_173561 Approved MGC34763, ZUD uc003opi.3 Q8IV45 OTTHUMG00000014665 ENST00000373164.1:c.724G>A 6.37:g.41000848C>T ENSP00000362258:p.Glu242Lys Q5TGU1 ENST00000373164.1 37 CCDS4847.1 . . . . . . . . . . C 0.048 -1.260412 0.01445 . . ENSG00000124602 ENST00000244565;ENST00000373164 T;T 0.13901 2.55;2.55 5.49 2.73 0.32206 . 1.324110 0.05320 N 0.526352 T 0.01835 0.0058 N 0.14661 0.345 0.09310 N 1 B 0.18013 0.025 B 0.08055 0.003 T 0.39187 -0.9626 10 0.06891 T 0.86 0.3977 7.2747 0.26277 0.0:0.7184:0.0:0.2816 . 242 Q8IV45 UN5CL_HUMAN K 242 ENSP00000244565:E242K;ENSP00000362258:E242K ENSP00000244565:E242K E - 1 0 UNC5CL 41108826 0.007000 0.16637 0.001000 0.08648 0.000000 0.00434 1.031000 0.30165 0.274000 0.22072 -0.140000 0.14226 GAA UNC5CL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040491.1 18.349028 0 1 14 0 0 1 0 NM_173561 6 18.365729 7 0.461538 OR2A14 135941 broad.mit.edu hg19 7 143826996 143826996 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:143826996G>A ENST00000408899.2 + 1 846 c.791G>A c.(790-792)cGc>cAc p.R264H NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CCCAAGTCCCGCCATCCTGAG 0.542 0 116.0 122.0 120.0 7 143826996 1977 4168 6145 SO:0001583 missense CCDS43672.1 7q35 2013-09-20 2004-03-08 ENSG00000221938 ENSG00000221938 """GPCR / Class A : Olfactory receptors""" 15084 protein-coding gene gene with protein product OR2A14P, OR2A6 Standard NM_001001659 Approved OST182 uc011kua.2 Q96R47 OTTHUMG00000158003 ENST00000408899.2:c.791G>A 7.37:g.143826996G>A ENSP00000386137:p.Arg264His Q6IF41|Q8NGT8 ENST00000408899.2 37 CCDS43672.1 . . . . . . . . . . G 2.913 -0.224927 0.06022 . . ENSG00000221938 ENST00000408899 T 0.00115 8.71 4.18 -5.3 0.02738 GPCR, rhodopsin-like superfamily (1); 2.119410 0.03153 U 0.168207 T 0.00109 0.0003 N 0.12746 0.255 0.09310 N 1 B 0.10296 0.003 B 0.13407 0.009 T 0.28235 -1.0050 10 0.54805 T 0.06 0.4492 8.5452 0.33417 0.6459:0.1234:0.2307:0.0 . 264 Q96R47 O2A14_HUMAN H 264 ENSP00000386137:R264H ENSP00000386137:R264H R + 2 0 OR2A14 143457929 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.642000 0.00863 -1.416000 0.02019 -1.077000 0.02231 CGC OR2A14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000349980.1 118.349831 0 -47 194 0 0 1 0 42 119.686936 68 0.381818 PCDHB7 0 broad.mit.edu hg19 5 140554409 140554409 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:140554409G>A ENST00000231137.3 + 1 2167 c.1993G>A c.(1993-1995)Ggc>Agc p.G665S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 665 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGTGGACGGCTTCTCCCA 0.701 0 41.0 65.0 57.0 5 140554409 2178 4274 6452 SO:0001583 missense AF152500 CCDS4249.1 5q31 2010-01-26 ENSG00000113212 ENSG00000113212 """Cadherins / Protocadherins : Clustered""" 8692 other protocadherin 606333 10380929 Standard NM_018940 Approved PCDH-BETA7 uc003lit.3 Q9Y5E2 OTTHUMG00000129608 ENST00000231137.3:c.1993G>A 5.37:g.140554409G>A ENSP00000231137:p.Gly665Ser A1L3Y8 ENST00000231137.3 37 CCDS4249.1 . . . . . . . . . . G 16.16 3.043627 0.55003 . . ENSG00000113212 ENST00000231137 T 0.47869 0.83 3.98 3.98 0.46160 Cadherin (2); . . . . T 0.49270 0.1547 N 0.17474 0.49 0.31529 N 0.661409 D 0.89917 1.0 D 0.97110 1.0 T 0.46884 -0.9159 9 0.20519 T 0.43 . 12.0813 0.53671 0.0:0.1742:0.8258:0.0 . 665 Q9Y5E2 PCDB7_HUMAN S 665 ENSP00000231137:G665S ENSP00000231137:G665S G + 1 0 PCDHB7 140534593 0.008000 0.16893 1.000000 0.80357 0.944000 0.59088 1.938000 0.40203 1.922000 0.55676 0.449000 0.29647 GGC PCDHB7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251803.2 82.966112 0 27 218 0 0 1 0 NM_018940 33 92.606359 111 0.229167 PPFIBP2 8495 broad.mit.edu hg19 11 7652162 7652162 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:7652162C>T ENST00000299492.4 + 11 1359 c.971C>T c.(970-972)tCg>tTg p.S324L PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S166L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S212L|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S181L NM_003621.3 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 324 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GCAGGGCCTTCGGAGAGAACT 0.388 0 110.0 117.0 115.0 11 7652162 2201 4296 6497 SO:0001583 missense AF034803 CCDS31419.1, CCDS58116.1, CCDS58117.1 11p15.4 2013-01-10 ENSG00000166387 ENSG00000166387 """Sterile alpha motif (SAM) domain containing""" 9250 protein-coding gene gene with protein product 603142 9624153 Standard NM_003621 Approved Cclp1 uc001mfj.5 Q8ND30 OTTHUMG00000165617 ENST00000530181.1:c.542C>T 11.37:g.7652162C>T ENSP00000437321:p.Ser181Leu B7Z433|E9PK77|O75337|Q8WW26 ENST00000530181.1 37 CCDS58117.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 C 23.7 4.447333 0.84101 . . ENSG00000166387 ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181 T;T;T;T 0.71461 -0.57;-0.57;-0.57;-0.57 6.17 5.27 0.74061 . 0.186394 0.37669 N 0.002000 T 0.61362 0.2341 L 0.51422 1.61 0.40553 D 0.981138 B;B;B;P;B 0.34892 0.002;0.217;0.021;0.474;0.02 B;B;B;B;B 0.24394 0.001;0.038;0.006;0.053;0.003 T 0.62737 -0.6791 10 0.37606 T 0.19 0.0316 13.4735 0.61295 0.0:0.925:0.0:0.075 . 212;212;247;181;324 E9PK77;B7Z433;F5GWB0;E9PMU1;Q8ND30 .;.;.;.;LIPB2_HUMAN L 324;166;166;247;212;181 ENSP00000299492:S324L;ENSP00000436498:S166L;ENSP00000435469:S212L;ENSP00000437321:S181L ENSP00000299492:S324L S + 2 0 PPFIBP2 7608738 0.795000 0.28851 0.985000 0.45067 0.918000 0.54935 3.175000 0.50855 1.625000 0.50366 0.655000 0.94253 TCG PPFIBP2-008 PUTATIVE basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000385403.2 56.774226 0 5 111 0 0 1 0 NM_003621 20 59.060116 46 0.303030 HIVEP3 59269 broad.mit.edu hg19 1 42048953 42048953 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:42048953G>A ENST00000372584.1 - 3 2530 c.1516C>T c.(1516-1518)Cgg>Tgg p.R506W HIVEP3_ENST00000372583.1_Missense_Mutation_p.R506W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R506W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R506W NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 506 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGGGCTCCCGGTAGAGGCTG 0.632 0 77.0 85.0 82.0 1 42048953 2203 4300 6503 SO:0001583 missense AF278765 CCDS463.1, CCDS44124.1 1p34 2013-01-08 2001-11-28 ENSG00000127124 ENSG00000127124 """Zinc fingers, C2H2-type""" 13561 protein-coding gene gene with protein product """kappabinding protein-1""" 606649 """human immunodeficiency virus type I enhancer-binding protein 3""" 11161801 Standard NR_038260 Approved KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C uc001cha.4 Q5T1R4 OTTHUMG00000006361 ENST00000372583.1:c.1516C>T 1.37:g.42048953G>A ENSP00000361664:p.Arg506Trp A7YY91|Q5T1R5|Q9BZS0|Q9HCL7 ENST00000372583.1 37 CCDS463.1 . . . . . . . . . . G 15.85 2.953963 0.53293 . . ENSG00000127124 ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157 T;T;T;T 0.21191 2.02;2.02;2.02;2.02 4.82 3.9 0.45041 . 0.000000 0.47093 D 0.000242 T 0.37652 0.1011 L 0.47716 1.5 0.37934 D 0.932111 D;D 0.89917 1.0;1.0 D;D 0.80764 0.994;0.987 T 0.37641 -0.9697 10 0.72032 D 0.01 -0.7334 12.4535 0.55691 0.0:0.0:0.6413:0.3587 . 506;506 Q5T1R4-2;Q5T1R4 .;ZEP3_HUMAN W 506 ENSP00000361665:R506W;ENSP00000361664:R506W;ENSP00000247584:R506W;ENSP00000410828:R506W ENSP00000247584:R506W R - 1 2 HIVEP3 41821540 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 3.030000 0.49720 1.246000 0.43901 0.561000 0.74099 CGG HIVEP3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000016978.1 66.633699 0 -18 61 0 0 1 0 NM_024503 22 67.784457 40 0.354839 WDR59 79726 broad.mit.edu hg19 16 74919625 74919625 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:74919625C>T ENST00000262144.6 - 25 2745 c.2615G>A c.(2614-2616)cGt>cAt p.R872H NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 872 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CAGACCCCAACGGTAGAGGAT 0.463 0 108.0 99.0 102.0 16 74919625 2198 4300 6498 SO:0001583 missense AB067510 CCDS32488.1 16q22.3 2013-01-09 ENSG00000103091 """WD repeat domain containing""" 25706 protein-coding gene gene with protein product 11572484 Standard XM_005256146 Approved FLJ12270 uc002fdh.1 Q6PJI9 ENST00000262144.6:c.2615G>A 16.37:g.74919625C>T ENSP00000262144:p.Arg872His B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43 ENST00000262144.6 37 CCDS32488.1 . . . . . . . . . . C 32 5.128763 0.94473 2.27E-4 1.16E-4 ENSG00000103091 ENST00000262144 T 0.72051 -0.62 5.36 5.36 0.76844 . 0.000000 0.85682 D 0.000000 D 0.87095 0.6092 M 0.88512 2.96 0.80722 D 1 D;D 0.76494 0.999;0.999 D;D 0.80764 0.987;0.994 D 0.89098 0.3487 10 0.66056 D 0.02 -20.5611 19.0883 0.93215 0.0:1.0:0.0:0.0 . 872;317 Q6PJI9;Q6PJI9-4 WDR59_HUMAN;. H 872 ENSP00000262144:R872H ENSP00000262144:R872H R - 2 0 WDR59 73477126 1.000000 0.71417 0.928000 0.36995 0.871000 0.50021 7.800000 0.85949 2.500000 0.84329 0.561000 0.74099 CGT WDR59-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410601.3 87.526536 0 -27 53 0 0 1 0 NM_030581 27 87.530663 26 0.509434 HDAC5 10014 broad.mit.edu hg19 17 42162392 42162392 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:42162392C>T ENST00000225983.6 - 15 2508 c.2185G>A c.(2185-2187)Gag>Aag p.E729K HDAC5_ENST00000586802.1_Missense_Mutation_p.E728K|HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000393622.2_Missense_Mutation_p.E728K Q9UQL6 HDAC5_HUMAN histone deacetylase 5 728 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) TCCCTTACCTCGCACTTGCTA 0.552 0 76.0 69.0 71.0 17 42162392 2203 4300 6503 SO:0001583 missense AF249731 CCDS32663.1, CCDS45696.1 17q21 2008-07-18 14068 protein-coding gene gene with protein product 605315 10220385, 9610721 Standard XM_005256905 Approved KIAA0600, NY-CO-9, FLJ90614 uc002iff.1 Q9UQL6 ENST00000225983.6:c.2185G>A 17.37:g.42162392C>T ENSP00000225983:p.Glu729Lys C9JFV9|O60340|O60528|Q96DY4 ENST00000225983.6 37 CCDS32663.1 . . . . . . . . . . C 23.0 4.356629 0.82243 . . ENSG00000108840 ENST00000225983;ENST00000393622 T;T 0.50548 0.74;0.74 5.38 5.38 0.77491 Histone deacetylase domain (2); 0.062618 0.64402 D 0.000007 T 0.50103 0.1596 L 0.41632 1.29 0.80722 D 1 D;P;P 0.58970 0.984;0.703;0.747 P;B;B 0.52823 0.71;0.114;0.182 T 0.43310 -0.9399 10 0.38643 T 0.18 -21.0677 13.6323 0.62202 0.0:0.8445:0.1555:0.0 . 728;729;728 B4DGT4;Q9UQL6-3;Q9UQL6 .;.;HDAC5_HUMAN K 729;728 ENSP00000225983:E729K;ENSP00000377244:E728K ENSP00000225983:E729K E - 1 0 HDAC5 39517918 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 5.954000 0.70298 2.517000 0.84864 0.655000 0.94253 GAG HDAC5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000457683.1 42.440763 0 -6 41 0 0 1 0 NM_001015053 14 43.018797 24 0.368421 FBXL18 80028 broad.mit.edu hg19 7 5540761 5540761 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:5540761G>A ENST00000382368.3 - 3 1262 c.1139C>T c.(1138-1140)gCg>gTg p.A380V FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 380 central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) GCAGCAGGACGCCACCAGAGT 0.687 0 17.0 25.0 22.0 7 5540761 2164 4263 6427 SO:0001583 missense AK057042 CCDS43546.1 7p22.2 2011-06-09 ENSG00000155034 ENSG00000155034 """F-boxes / Leucine-rich repeats""" 21874 protein-coding gene gene with protein product 609084 Standard NM_024963 Approved FLJ11467, Fbl18 uc003son.4 Q96ME1 OTTHUMG00000151832 ENST00000382368.3:c.1139C>T 7.37:g.5540761G>A ENSP00000371805:p.Ala380Val Q9BR90|Q9BTC7|Q9HAK7 ENST00000382368.3 37 CCDS43546.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 9.514|9.514 1.106525|1.106525 0.20632|0.20632 .|. .|. ENSG00000155034|ENSG00000155034 ENST00000382368;ENST00000312577;ENST00000453700|ENST00000458142 T;T|. 0.01005|. 5.45;5.45|. 5.03|5.03 -4.22|-4.22 0.03800|0.03800 .|. 0.825130|. 0.11372|. N|. 0.570784|. T|T 0.09905|0.09905 0.0243|0.0243 N|N 0.08118|0.08118 0|0 0.09310|0.09310 N|N 1|1 B;B|. 0.12630|. 0.006;0.001|. B;B|. 0.06405|. 0.002;0.001|. T|T 0.27191|0.27191 -1.0081|-1.0081 10|5 0.30854|. T|. 0.27|. .|. 0.8005|0.8005 0.01074|0.01074 0.3835:0.1244:0.2651:0.227|0.3835:0.1244:0.2651:0.227 .|. 380;380|. F5H4Z4;Q96ME1-4|. .;.|. V|C 380|264 ENSP00000371805:A380V;ENSP00000444797:A380V|. ENSP00000311990:A380V|. A|R -|- 2|1 0|0 FBXL18|FBXL18 5507287|5507287 0.000000|0.000000 0.05858|0.05858 0.117000|0.117000 0.21633|0.21633 0.991000|0.991000 0.79684|0.79684 -0.072000|-0.072000 0.11486|0.11486 -0.613000|-0.613000 0.05694|0.05694 -0.482000|-0.482000 0.04802|0.04802 GCG|CGT FBXL18-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324093.1 49.834208 0 2 45 0 0 1 0 NM_024963 18 49.858844 16 0.529412 CYP2A13 1553 broad.mit.edu hg19 19 41594843 41594843 + Missense_Mutation SNP C C T rs72547586 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:41594843C>T ENST00000330436.3 + 2 190 c.190C>T c.(190-192)Cgc>Tgc p.R64C NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 64 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 GATCAGTGAGCGCTATGGCCC 0.612 0 84.0 77.0 80.0 19 41594843 2203 4300 6503 SO:0001583 missense U22028 CCDS12571.1 19q13.2 2013-11-11 2003-01-14 ENSG00000197838 ENSG00000197838 """Cytochrome P450s""" 2608 protein-coding gene gene with protein product 608055 """cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13""" 7668294, 15128046 Standard NM_000766 Approved CPAD, CYP2A uc002opt.4 Q16696 OTTHUMG00000182762 ENST00000330436.3:c.190C>T 19.37:g.41594843C>T ENSP00000332679:p.Arg64Cys Q53YR8|Q6R569|Q6R570|Q9H2X2 ENST00000330436.3 37 CCDS12571.1 . . . . . . . . . . . 12.17 1.857060 0.32791 . . ENSG00000197838 ENST00000330436 T 0.69435 -0.4 3.49 2.34 0.29019 . 0.527792 0.16699 U 0.203231 T 0.61961 0.2389 M 0.69185 2.1 0.09310 N 1 B 0.19073 0.033 B 0.16722 0.016 T 0.59500 -0.7443 10 0.59425 D 0.04 . 9.8633 0.41127 0.3098:0.6902:0.0:0.0 . 64 Q16696 CP2AD_HUMAN C 64 ENSP00000332679:R64C ENSP00000332679:R64C R + 1 0 CYP2A13 46286683 0.000000 0.05858 0.575000 0.28536 0.381000 0.30169 -0.327000 0.07955 1.965000 0.57142 0.444000 0.29173 CGC CYP2A13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463505.1 7.049305 0 -23 60 0 0 1 0 NM_000766 6 14.593958 46 0.115385 ARHGEF15 22899 broad.mit.edu hg19 17 8221893 8221893 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:8221893C>T ENST00000361926.3 + 11 1895 c.1785C>T c.(1783-1785)atC>atT p.I595I ARHGEF15_ENST00000421050.1_Silent_p.I595I|AC135178.7_ENST00000458568.1_RNA NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 595 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCTAGATCATCGAGCGTTGCA 0.597 2 59.0 59.0 59.0 17 8221893 2203 4300 6503 SO:0001819 synonymous_variant AB020722 CCDS11139.1 17p13.1 2011-11-16 ENSG00000198844 ENSG00000198844 """Rho guanine nucleotide exchange factors""" 15590 protein-coding gene gene with protein product """Rho guanine exchange factor (GEF) 15""" 608504 10048485 Standard NM_173728 Approved KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868 uc002glc.3 O94989 OTTHUMG00000108187 ENST00000361926.3:c.1785C>T 17.37:g.8221893C>T A8K6G1|Q8N449|Q9H8B4 ENST00000361926.3 37 CCDS11139.1 ARHGEF15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226993.2 25.601762 0 -22 27 0 0 1 0 NM_173728 8 25.664104 6 0.571429 YPEL1 29799 broad.mit.edu hg19 22 22057670 22057670 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:22057670C>T ENST00000339468.3 - 4 642 c.259G>A c.(259-261)Ggg>Agg p.G87R NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) 87 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) TATTTCCACCCGAGCGTGGTC 0.622 0 148.0 116.0 127.0 22 22057670 2203 4300 6503 SO:0001583 missense AF060862 CCDS13794.1 22q11.2 2008-02-04 2001-11-28 ENSG00000100027 ENSG00000100027 12845 protein-coding gene gene with protein product 608082 """yippee (Drosophila) homolog-like 1""" 11473580 Standard NM_013313 Approved uc002zvl.3 O60688 OTTHUMG00000150830 ENST00000339468.3:c.259G>A 22.37:g.22057670C>T ENSP00000342832:p.Gly87Arg Q65ZA1|Q6GLI6 ENST00000339468.3 37 CCDS13794.1 . . . . . . . . . . C 29.2 4.984089 0.93044 . . ENSG00000100027 ENST00000339468 . . . 4.06 4.06 0.47325 . 0.000000 0.85682 D 0.000000 D 0.89774 0.6812 H 0.97516 4.02 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.93527 0.6866 9 0.87932 D 0 . 17.6172 0.88071 0.0:1.0:0.0:0.0 . 87 O60688 YPEL1_HUMAN R 87 . ENSP00000342832:G87R G - 1 0 YPEL1 20387670 1.000000 0.71417 0.999000 0.59377 0.718000 0.41266 7.650000 0.83521 2.574000 0.86865 0.558000 0.71614 GGG YPEL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320245.1 89.530416 0 -17 60 0 0 1 0 NM_013313 27 89.693654 21 0.562500 MAP2K3 5606 broad.mit.edu hg19 17 21201792 21201792 + Splice_Site SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:21201792G>A ENST00000342679.4 + 2 365 c.e2+1 MAP2K3_ENST00000316920.6_Splice_Site|MAP2K3_ENST00000361818.5_Splice_Site NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CCAACCCCACGTGAGTCTGCC 0.577 0 202.0 174.0 183.0 17 21201792 2203 4300 6503 SO:0001630 splice_region_variant L36719 CCDS11217.1, CCDS11218.1 17q11.2 2011-06-09 ENSG00000034152 ENSG00000034152 """Mitogen-activated protein kinase cascade / Kinase kinases""" 6843 protein-coding gene gene with protein product """MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3""" 602315 PRKMK3 9465908 Standard NM_145109 Approved MEK3, MKK3, MAPKK3 uc002gys.3 P46734 OTTHUMG00000134322 ENST00000342679.4:c.116+1G>A 17.37:g.21201792G>A B3KSK7|Q99441|Q9UE71|Q9UE72 ENST00000342679.4 37 CCDS11217.1 . . . . . . . . . . G 22.9 4.353219 0.82132 2.27E-4 0.0 ENSG00000034152 ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920 . . . 5.67 5.67 0.87782 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 16.8621 0.86021 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . MAP2K3 21142385 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 3.020000 0.49643 2.837000 0.97791 0.655000 0.94253 . MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259374.2 36.877828 0 -53 148 0 0 1 0 NM_145109 18 46.325124 81 0.181818 ATP2C2 9914 broad.mit.edu hg19 16 84482210 84482210 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:84482210C>T ENST00000416219.2 + 17 1664 c.1575C>T c.(1573-1575)aaC>aaT p.N525N ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.N525N O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 525 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TGTACAACAACGGGGGCATCC 0.552 0 78.0 88.0 84.0 16 84482210 1995 4146 6141 SO:0001819 synonymous_variant AK091051 CCDS42207.1, CCDS67088.1 16q24.1 2010-04-20 ENSG00000064270 ENSG00000064270 """ATPases / P-type""" 29103 protein-coding gene gene with protein product """secretory pathway calcium ATPase 2""" 613082 9734811 Standard XM_006721355 Approved KIAA0703, SPCA2 uc002fhx.3 O75185 ENST00000416219.2:c.1575C>T 16.37:g.84482210C>T B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2 ENST00000416219.2 37 ATP2C2-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000433405.1 53.308420 0 -15 80 0 0 1 0 NM_014861 19 54.138082 33 0.365385 PSMF1 9491 broad.mit.edu hg19 20 1143802 1143802 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:1143802G>A ENST00000335877.6 + 5 756 c.580G>A c.(580-582)Ggg>Agg p.G194R PSMF1_ENST00000333082.3_Missense_Mutation_p.G194R|PSMF1_ENST00000438768.2_Missense_Mutation_p.G132R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.G106R|PSMF1_ENST00000246015.4_Missense_Mutation_p.G194R NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 194 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 GTTTGTTGTCGGGGGAGAAGA 0.507 0 154.0 108.0 123.0 20 1143802 2203 4300 6503 SO:0001583 missense D88378 CCDS13010.1 20p13 2008-07-02 ENSG00000125818 ENSG00000125818 """Proteasome (prosome, macropain) subunits""" 9571 protein-coding gene gene with protein product """proteasome inhibitor hP131 subunit""" 10363639 Standard NM_006814 Approved PI31 uc002wen.4 Q92530 OTTHUMG00000031656 ENST00000335877.6:c.580G>A 20.37:g.1143802G>A ENSP00000338039:p.Gly194Arg A0AVQ9|D3DVW3|Q9H4I1 ENST00000335877.6 37 CCDS13010.1 . . . . . . . . . . G 28.7 4.940451 0.92526 . . ENSG00000125818 ENST00000333082;ENST00000381898;ENST00000246015;ENST00000335877;ENST00000438768 T;D;T;T;T 0.82893 -0.31;-1.66;-0.57;-0.31;-0.62 5.26 5.26 0.73747 . 0.000000 0.85682 D 0.000000 D 0.92648 0.7664 M 0.89904 3.07 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 0.97110 1.0;1.0;1.0;1.0;1.0 D 0.93658 0.6979 10 0.72032 D 0.01 -15.2157 16.8273 0.85934 0.0:0.0:1.0:0.0 . 132;106;106;194;194 E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530 .;.;.;.;PSMF1_HUMAN R 194;106;194;194;132 ENSP00000327704:G194R;ENSP00000371323:G106R;ENSP00000246015:G194R;ENSP00000338039:G194R;ENSP00000401404:G132R ENSP00000246015:G194R G + 1 0 PSMF1 1091802 1.000000 0.71417 1.000000 0.80357 0.964000 0.63967 7.897000 0.87356 2.735000 0.93741 0.561000 0.74099 GGG PSMF1-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077504.2 43.277950 0 -6 49 0 0 1 0 NM_178578 13 43.314368 11 0.541667 DPEP2 64174 broad.mit.edu hg19 16 68026047 68026047 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:68026047C>T ENST00000412757.2 - 5 1105 c.440G>A c.(439-441)cGc>cAc p.R147H DPEP2_ENST00000393847.1_Missense_Mutation_p.R147H|DPEP2_ENST00000572888.1_Missense_Mutation_p.R147H Q9H4A9 DPEP2_HUMAN dipeptidase 2 147 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) CAGGGTGAGGCGCAGGGCATC 0.602 0 111.0 104.0 106.0 16 68026047 2198 4300 6498 SO:0001583 missense AJ295149 CCDS10857.1 16q22.1 2011-07-22 ENSG00000167261 ENSG00000167261 23028 protein-coding gene gene with protein product 609925 Standard NM_022355 Approved uc002eve.4 Q9H4A9 OTTHUMG00000137542 ENST00000572888.1:c.440G>A 16.37:g.68026047C>T ENSP00000458977:p.Arg147His B2RCF8|Q6UX92|Q8TC95 ENST00000572888.1 37 CCDS10857.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 21.6|21.6 4.166270|4.166270 0.78339|0.78339 .|. .|. ENSG00000167261|ENSG00000167261 ENST00000268795|ENST00000393847;ENST00000412757;ENST00000322384 .|T;T .|0.24151 .|1.87;1.87 4.77|4.77 2.64|2.64 0.31445|0.31445 .|. .|0.187643 .|0.41712 .|N .|0.000825 T|T 0.45617|0.45617 0.1351|0.1351 M|M 0.75150|0.75150 2.29|2.29 0.80722|0.80722 D|D 1|1 P|D;D 0.46952|0.89917 0.887|1.0;1.0 B|D;D 0.35240|0.91635 0.198|0.999;0.998 T|T 0.43988|0.43988 -0.9357|-0.9357 8|10 0.87932|0.87932 D|D 0|0 -18.7858|-18.7858 7.5897|7.5897 0.28015|0.28015 0.0:0.7378:0.168:0.0942|0.0:0.7378:0.168:0.0942 .|. 105|147;60 B4DNP7|Q9H4A9;Q9H4A9-2 .|DPEP2_HUMAN;. T|H 105|147;147;60 .|ENSP00000377430:R147H;ENSP00000412549:R147H ENSP00000268795:A105T|ENSP00000314702:R60H A|R -|- 1|2 0|0 DPEP2|DPEP2 66583548|66583548 0.402000|0.402000 0.25311|0.25311 1.000000|1.000000 0.80357|0.80357 0.820000|0.820000 0.46376|0.46376 0.055000|0.055000 0.14229|0.14229 1.337000|1.337000 0.45525|0.45525 0.561000|0.561000 0.74099|0.74099 GCC|CGC DPEP2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000437026.1 81.552107 0 -10 78 0 0 1 0 NM_022355 26 81.624494 22 0.541667 PLEC 5339 broad.mit.edu hg19 8 144990788 144990788 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:144990788C>T ENST00000322810.4 - 32 13781 c.13612G>A c.(13612-13614)Gac>Aac p.D4538N PLEC_ENST00000357649.2_Missense_Mutation_p.D4405N|PLEC_ENST00000356346.3_Missense_Mutation_p.D4387N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4424N|PLEC_ENST00000354958.2_Missense_Mutation_p.D4379N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4428N|PLEC_ENST00000398774.2_Missense_Mutation_p.D4369N|PLEC_ENST00000354589.3_Missense_Mutation_p.D4401N|PLEC_ENST00000345136.3_Missense_Mutation_p.D4401N NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4538 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCCGGCGTGTCGGGCTCGATC 0.706 0 19.0 23.0 22.0 8 144990788 1924 4095 6019 SO:0001583 missense U53204 CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1 8q24 2010-02-04 2010-02-04 2010-02-04 ENSG00000178209 ENSG00000178209 9069 protein-coding gene gene with protein product 601282 """plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa""" EBS1, PLEC1 8633055, 8696340 Standard XM_005250976 Approved PCN, PLTN uc003zaf.1 Q15149 OTTHUMG00000165291 ENST00000322810.4:c.13612G>A 8.37:g.144990788C>T ENSP00000323856:p.Asp4538Asn Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383 ENST00000322810.4 37 CCDS43772.1 . . . . . . . . . . C 7.445 0.641434 0.14451 . . ENSG00000178209 ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096 T;T;T;T;T;T;T;T;T 0.72051 -0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62 5.05 4.18 0.49190 . 0.077468 0.48286 U 0.000197 T 0.54565 0.1866 N 0.05534 -0.03 0.47819 D 0.999521 P;P;P;P;P;P;P;P 0.46578 0.854;0.854;0.854;0.88;0.854;0.854;0.854;0.854 B;B;B;B;B;B;B;B 0.43889 0.213;0.213;0.213;0.435;0.213;0.308;0.213;0.213 T 0.63994 -0.6511 10 0.72032 D 0.01 . 13.5481 0.61715 0.0:0.9238:0.0:0.0762 . 4428;4387;4379;4538;4369;4401;4405;4401 Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4 .;.;.;PLEC_HUMAN;.;.;.;. N 4401;4405;4401;4369;4538;4379;4387;4428;4424 ENSP00000344848:D4401N;ENSP00000350277:D4405N;ENSP00000346602:D4401N;ENSP00000381756:D4369N;ENSP00000323856:D4538N;ENSP00000347044:D4379N;ENSP00000348702:D4387N;ENSP00000388180:D4428N;ENSP00000434583:D4424N ENSP00000323856:D4538N D - 1 0 PLEC 145062776 1.000000 0.71417 0.109000 0.21407 0.064000 0.16182 5.880000 0.69698 1.340000 0.45581 0.643000 0.83706 GAC PLEC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383281.1 51.975494 0 -21 53 0 0 1 0 NM_000445 17 51.975494 17 0.500000 PRPF8 10594 broad.mit.edu hg19 17 1559772 1559772 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:1559772C>T ENST00000572621.1 - 35 5972 c.5707G>A c.(5707-5709)Ggg>Agg p.G1903R PRPF8_ENST00000304992.6_Missense_Mutation_p.G1903R Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1903 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ATGAGATCCCCGAATTTTTCC 0.483 0 118.0 114.0 115.0 17 1559772 2203 4300 6503 SO:0001583 missense AB007510 CCDS11010.1 17p13.3 2013-07-16 2013-06-10 ENSG00000174231 ENSG00000174231 17340 protein-coding gene gene with protein product 607300 """PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)""" RP13 11468273, 10411133 Standard NM_006445 Approved PRPC8, Prp8, hPrp8, SNRNP220 uc002fte.3 Q6P2Q9 OTTHUMG00000090553 ENST00000572621.1:c.5707G>A 17.37:g.1559772C>T ENSP00000460348:p.Gly1903Arg O14547|O75965 ENST00000572621.1 37 CCDS11010.1 . . . . . . . . . . c 32 5.127265 0.94473 . . ENSG00000174231 ENST00000304992;ENST00000540177 T 0.81330 -1.48 5.62 5.62 0.85841 PRP8 domain IV core (1); 0.000000 0.85682 D 0.000000 D 0.90868 0.7131 M 0.83012 2.62 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.91144 0.4948 10 0.59425 D 0.04 -13.6657 19.645 0.95773 0.0:1.0:0.0:0.0 . 1903 Q6P2Q9 PRP8_HUMAN R 1903;428 ENSP00000304350:G1903R ENSP00000304350:G1903R G - 1 0 PRPF8 1506522 1.000000 0.71417 1.000000 0.80357 0.936000 0.57629 7.818000 0.86416 2.647000 0.89833 0.655000 0.94253 GGG PRPF8-002 NOVEL alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438412.2 29.999430 0 -12 78 0 0 1 0 13 35.804379 54 0.194030 TTC37 9652 broad.mit.edu hg19 5 94858978 94858978 + Missense_Mutation SNP G G A rs143193581 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:94858978G>A ENST00000358746.2 - 18 1983 c.1685C>T c.(1684-1686)aCg>aTg p.T562M NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 562 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 CCATTTTGCCGTTCCAGCACT 0.358 0 200.0 196.0 197.0 5 94858978 2203 4300 6503 SO:0001583 missense AB002370 CCDS4072.1 5q15 2014-09-17 2008-06-11 2008-06-11 ENSG00000198677 ENSG00000198677 """Tetratricopeptide (TTC) repeat domain containing""" 23639 protein-coding gene gene with protein product 614589 """KIAA0372""" KIAA0372 9205841 Standard NM_014639 Approved uc003klb.3 Q6PGP7 OTTHUMG00000121165 ENST00000358746.2:c.1685C>T 5.37:g.94858978G>A ENSP00000351596:p.Thr562Met O15077|Q6PJI3 ENST00000358746.2 37 CCDS4072.1 . . . . . . . . . . G 21.4 4.138036 0.77775 4.54E-4 0.0 ENSG00000198677 ENST00000358746;ENST00000514952 T;T 0.76060 0.71;-0.99 4.88 4.88 0.63580 Tetratricopeptide repeat-containing (1); 0.207799 0.42964 D 0.000623 T 0.73305 0.3570 L 0.29908 0.895 0.28657 N 0.906322 D;D 0.55385 0.971;0.959 P;P 0.53722 0.733;0.564 T 0.70178 -0.4943 10 0.51188 T 0.08 . 14.8409 0.70223 0.0:0.1444:0.8556:0.0 . 514;562 D6RCE2;Q6PGP7 .;TTC37_HUMAN M 562;514 ENSP00000351596:T562M;ENSP00000423742:T514M ENSP00000351596:T562M T - 2 0 TTC37 94884734 0.984000 0.35163 0.967000 0.41034 0.975000 0.68041 3.518000 0.53451 2.402000 0.81655 0.557000 0.71058 ACG TTC37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000241651.1 223.034262 0 -8 238 0 0 1 0 NM_014639 70 223.434575 87 0.445860 TOMM40 10452 broad.mit.edu hg19 19 45404590 45404590 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:45404590G>A ENST00000592434.1 + 9 1062 c.969G>A c.(967-969)acG>acA p.T323T TOMM40_ENST00000426677.2_Intron|TOMM40_ENST00000252487.5_Intron|TOMM40_ENST00000405636.2_Intron O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast) 0 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) GTTCCCCTACGCGGGAAACAG 0.602 0 31.0 26.0 28.0 19 45404590 2203 4300 6503 SO:0001819 synonymous_variant AF043250 CCDS12646.1 19q13 2008-07-04 ENSG00000130204 18001 protein-coding gene gene with protein product 608061 10980201, 15644312 Standard NM_006114 Approved PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1 uc002paa.4 O96008 ENST00000592434.1:c.969G>A 19.37:g.45404590G>A Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95 ENST00000592434.1 37 TOMM40-002 KNOWN basic protein_coding protein_coding OTTHUMT00000453240.1 11.496197 0 -1 9 0 0 1 0 4 11.791306 8 0.333333 HDAC5 10014 broad.mit.edu hg19 17 42171083 42171083 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:42171083G>A ENST00000225983.6 - 4 540 c.217C>T c.(217-219)Cgg>Tgg p.R73W HDAC5_ENST00000586802.1_Missense_Mutation_p.R72W|HDAC5_ENST00000336057.5_Missense_Mutation_p.R72W|HDAC5_ENST00000393622.2_Missense_Mutation_p.R72W Q9UQL6 HDAC5_HUMAN histone deacetylase 5 72 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) tgctgctcccgcAGTGTGGGG 0.652 0 12.0 13.0 13.0 17 42171083 2200 4298 6498 SO:0001583 missense AF249731 CCDS32663.1, CCDS45696.1 17q21 2008-07-18 14068 protein-coding gene gene with protein product 605315 10220385, 9610721 Standard XM_005256905 Approved KIAA0600, NY-CO-9, FLJ90614 uc002iff.1 Q9UQL6 ENST00000225983.6:c.217C>T 17.37:g.42171083G>A ENSP00000225983:p.Arg73Trp C9JFV9|O60340|O60528|Q96DY4 ENST00000225983.6 37 CCDS32663.1 . . . . . . . . . . G 15.34 2.804943 0.50315 . . ENSG00000108840 ENST00000225983;ENST00000393622;ENST00000336057 T;T;T 0.50813 0.77;0.77;0.73 4.16 3.17 0.36434 Histone deacetylase, glutamine rich N-terminal domain (1); 0.000000 0.64402 D 0.000014 T 0.53642 0.1809 L 0.28115 0.83 0.50632 D 0.999886 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.83275 0.994;0.996;0.994;0.996 T 0.56013 -0.8049 10 0.87932 D 0 -16.6272 11.918 0.52776 0.0:0.0:0.8236:0.1763 . 72;72;73;72 Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6 .;.;.;HDAC5_HUMAN W 73;72;72 ENSP00000225983:R73W;ENSP00000377244:R72W;ENSP00000337290:R72W ENSP00000225983:R73W R - 1 2 HDAC5 39526609 1.000000 0.71417 0.820000 0.32676 0.872000 0.50106 3.192000 0.50989 0.704000 0.31869 0.462000 0.41574 CGG HDAC5-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000457683.1 7.518541 0 4 14 0 0 1 0 NM_001015053 3 8.381823 10 0.230769 ATP6AP1L 92270 broad.mit.edu hg19 5 81608483 81608483 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:81608483G>A ENST00000380167.4 + 9 1510 c.185G>A c.(184-186)cGc>cAc p.R62H ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R62H|ATP6AP1L_ENST00000508366.1_3'UTR Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 62 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 TTTAGTTTGCGCCGAGTCGAG 0.438 0 196.0 190.0 192.0 5 81608483 2203 4300 6503 SO:0001583 missense AK022625 CCDS34196.1 5q14.2 2010-03-10 ENSG00000205464 28091 protein-coding gene gene with protein product Standard XR_112744 Approved uc003khw.3 Q52LC2 ENST00000380167.4:c.185G>A 5.37:g.81608483G>A ENSP00000369513:p.Arg62His ENST00000380167.4 37 CCDS34196.1 . . . . . . . . . . G 5.379 0.255166 0.10185 . . ENSG00000205464 ENST00000380167;ENST00000439350 . . . 5.68 3.32 0.38043 . 0.340897 0.31685 N 0.007234 T 0.16171 0.0389 N 0.01464 -0.85 0.29384 N 0.863128 B 0.02656 0.0 B 0.01281 0.0 T 0.15607 -1.0431 9 0.11182 T 0.66 . 13.2407 0.59995 0.9309:0.0:0.0691:0.0 . 62 Q52LC2 VAS1L_HUMAN H 62 . ENSP00000369513:R62H R + 2 0 ATP6AP1L 81644239 1.000000 0.71417 0.565000 0.28409 0.001000 0.01503 3.980000 0.56895 0.440000 0.26502 -1.074000 0.02243 CGC ATP6AP1L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369562.3 -14.181744 0 -31 106 0 0 1 0 NM_001017971 4 7.494964 92 0.041667 TAF1C 9013 broad.mit.edu hg19 16 84212998 84212998 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:84212998C>T ENST00000567759.1 - 14 2341 c.2159G>A c.(2158-2160)cGc>cAc p.R720H TAF1C_ENST00000341690.6_Missense_Mutation_p.R626H|TAF1C_ENST00000566732.1_Missense_Mutation_p.R694H|TAF1C_ENST00000570117.1_Missense_Mutation_p.R388H|TAF1C_ENST00000378541.4_Missense_Mutation_p.R720H|TAF1C_ENST00000541676.1_Missense_Mutation_p.R627H NM_005679.3 NP_005670 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 720 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 TTCCCCCAGGCGCTCACTGAG 0.726 0 20.0 23.0 22.0 16 84212998 2199 4291 6490 SO:0001583 missense L39059 CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1 16q24 2008-02-05 2002-08-29 ENSG00000103168 11534 protein-coding gene gene with protein product 604905 """TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD""" 7801123 Standard NM_005679 Approved TAFI110, TAFI95, SL1, MGC:39976 uc010vnx.2 Q15572 ENST00000566732.1:c.2081G>A 16.37:g.84212998C>T ENSP00000455933:p.Arg694His B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3 ENST00000566732.1 37 CCDS58489.1 . . . . . . . . . . C 24.1 4.493965 0.84962 . . ENSG00000103168 ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090 T;T;T 0.02682 4.2;4.2;4.2 5.14 5.14 0.70334 . 0.000000 0.64402 D 0.000006 T 0.13884 0.0336 M 0.72118 2.19 0.37624 D 0.921407 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.87578 0.995;0.996;0.998;0.989 T 0.00611 -1.1645 10 0.87932 D 0 -17.1242 14.0909 0.64990 0.0:1.0:0.0:0.0 . 694;243;720;626 Q15572-6;F5H0H4;Q15572;Q15572-2 .;.;TAF1C_HUMAN;. H 720;627;626;243 ENSP00000367802:R720H;ENSP00000437900:R627H;ENSP00000345305:R626H ENSP00000345305:R626H R - 2 0 TAF1C 82770499 0.002000 0.14202 0.440000 0.26846 0.858000 0.48976 0.384000 0.20668 2.390000 0.81377 0.561000 0.74099 CGC TAF1C-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000433047.1 40.713912 0 -5 37 0 0 1 0 NM_139353 15 40.816988 19 0.441176 DPYSL4 10570 broad.mit.edu hg19 10 134008389 134008389 + Silent SNP G G A rs138714632 by1000genomes TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:134008389G>A ENST00000338492.4 + 4 518 c.354G>A c.(352-354)gcG>gcA p.A118A DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Silent_p.A41A|DPYSL4_ENST00000368629.1_Silent_p.A41A NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 118 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GCCTGCTGGCGGCCTACGAGC 0.662 0 71.0 66.0 68.0 10 134008389 2203 4298 6501 SO:0001819 synonymous_variant AB006713 CCDS7665.1 10q25.2-q26 2008-05-14 ENSG00000151640 ENSG00000151640 3016 protein-coding gene gene with protein product 608407 8973361, 9652388 Standard NM_006426 Approved ULIP4, DRP-4 uc009ybb.3 O14531 OTTHUMG00000019283 ENST00000338492.4:c.354G>A 10.37:g.134008389G>A B2RMQ1|D3DRG5|O00240|Q5T0Q7 ENST00000338492.4 37 CCDS7665.1 DPYSL4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051050.2 51.566805 0 -29 72 0 0 1 0 17 52.064083 27 0.386364 GDAP1L1 78997 broad.mit.edu hg19 20 42885898 42885898 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:42885898G>A ENST00000342560.5 + 2 374 c.286G>A c.(286-288)Gag>Aag p.E96K GDAP1L1_ENST00000372952.3_Missense_Mutation_p.E96K|GDAP1L1_ENST00000537864.1_Intron NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 96 GST N-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CAACCTGGGCGAGGAGGTGCC 0.612 1 122.0 75.0 91.0 20 42885898 2203 4300 6503 SO:0001583 missense CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1 20q12 2012-02-09 2012-02-09 ENSG00000124194 ENSG00000124194 4213 protein-coding gene gene with protein product Standard NM_024034 Approved uc010zwl.3 Q96MZ0 OTTHUMG00000032530 ENST00000342560.5:c.286G>A 20.37:g.42885898G>A ENSP00000341782:p.Glu96Lys B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5 ENST00000342560.5 37 CCDS13328.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 29.8|29.8 5.032983|5.032983 0.93575|0.93575 .|. .|. ENSG00000124194|ENSG00000124194 ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952|ENST00000445952 T;T;T|. 0.62498|. 0.02;0.02;1.84|. 5.55|5.55 5.55|5.55 0.83447|0.83447 Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.51534|0.51534 0.1680|0.1680 N|N 0.13098|0.13098 0.295|0.295 0.80722|0.80722 D|D 1|1 D;D;D;D|. 0.89917|. 0.999;1.0;0.999;1.0|. D;D;D;D|. 0.83275|. 0.993;0.941;0.913;0.996|. T|T 0.42816|0.42816 -0.9429|-0.9429 10|5 0.59425|. D|. 0.04|. .|. 19.3061|19.3061 0.94163|0.94163 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 96;96;96;42|. B7Z1I3;B7Z621;Q96MZ0;Q5JY50|. .;.;GD1L1_HUMAN;.|. K|Q 96;94;96;65;96;96|42 ENSP00000341782:E96K;ENSP00000392881:E96K;ENSP00000362043:E96K|. ENSP00000341782:E96K|. E|R +|+ 1|2 0|0 GDAP1L1|GDAP1L1 42319312|42319312 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 9.229000|9.229000 0.95273|0.95273 2.894000|2.894000 0.99253|0.99253 0.655000|0.655000 0.94253|0.94253 GAG|CGA GDAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000079356.1 17.643343 0 -12 25 0 0 1 0 NM_024034 6 18.216696 13 0.315789 RNF113B 140432 broad.mit.edu hg19 13 98829458 98829458 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr13:98829458G>A ENST00000267291.6 - 1 61 c.33C>T c.(31-33)gcC>gcT p.A11A FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 11 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CTGCTTGGTCGGCCGTCCTTC 0.652 0 44.0 40.0 41.0 13 98829458 2203 4300 6503 SO:0001819 synonymous_variant AF539427 CCDS9486.1 13q32.2 2006-08-22 2005-03-22 2005-03-22 ENSG00000139797 ENSG00000139797 """RING-type (C3HC4) zinc fingers""" 17267 protein-coding gene gene with protein product """zinc finger protein 183-like 1""" ZNF183L1 Standard NM_178861 Approved RNF161 uc001vnk.3 Q8IZP6 OTTHUMG00000017245 ENST00000267291.6:c.33C>T 13.37:g.98829458G>A Q8WWF9|Q96QY9 ENST00000267291.6 37 CCDS9486.1 RNF113B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045536.3 23.358448 0 -31 35 0 0 1 0 NM_178861 9 25.403132 27 0.250000 BZW2 28969 broad.mit.edu hg19 7 16720938 16720938 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:16720938C>T ENST00000433922.2 + 4 426 c.248C>T c.(247-249)aCg>aTg p.T83M BZW2_ENST00000258761.3_Missense_Mutation_p.T83M|BZW2_ENST00000452975.2_Missense_Mutation_p.T83M|BZW2_ENST00000405202.1_Missense_Mutation_p.T7M|BZW2_ENST00000432311.1_3'UTR NM_001159767.1 NP_001153239.1 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 83 cell differentiation|nervous system development|RNA metabolic process protein binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) CCTGGAGGAACGCGCATAGAT 0.403 0 124.0 110.0 115.0 7 16720938 2203 4300 6503 SO:0001583 missense AF083246 CCDS5362.1 7p21.3 2008-07-18 ENSG00000136261 ENSG00000136261 18808 protein-coding gene gene with protein product 11042152 Standard NM_001159767 Approved HSPC028, MST017, MSTP017 uc003stj.2 Q9Y6E2 OTTHUMG00000130755 ENST00000433922.2:c.248C>T 7.37:g.16720938C>T ENSP00000397249:p.Thr83Met A4D123|Q3B779|Q96JW5|Q9H3F7 ENST00000433922.2 37 CCDS5362.1 . . . . . . . . . . C 23.1 4.371822 0.82573 2.27E-4 0.0 ENSG00000136261 ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000 T;T;T;T;T;T;T;T 0.44083 0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93 5.9 5.9 0.94986 . 0.058233 0.64402 D 0.000003 T 0.64227 0.2579 M 0.75777 2.31 0.58432 D 0.999999 D;D;D 0.89917 0.993;1.0;0.993 P;D;P 0.69307 0.568;0.963;0.568 T 0.65162 -0.6235 10 0.59425 D 0.04 -6.3474 15.7199 0.77700 0.0:0.8641:0.1359:0.0 . 83;83;83 E7ETZ4;Q96JW5;Q9Y6E2 .;.;BZW2_HUMAN M 83;83;83;83;7;83;83;83 ENSP00000403481:T83M;ENSP00000258761:T83M;ENSP00000397249:T83M;ENSP00000411715:T83M;ENSP00000385577:T7M;ENSP00000412750:T83M;ENSP00000415924:T83M;ENSP00000416531:T83M ENSP00000258761:T83M T + 2 0 BZW2 16687463 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 5.947000 0.70242 2.793000 0.96121 0.563000 0.77884 ACG BZW2-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000253256.2 9.488852 0 -4 24 0 0 1 0 NM_014038 4 11.162637 16 0.200000 SLC34A3 142680 broad.mit.edu hg19 9 140127061 140127061 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:140127061C>T ENST00000538474.1 + 4 434 c.210C>T c.(208-210)gcC>gcT p.A70A SLC34A3_ENST00000361134.2_Silent_p.A70A NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 70 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCCGCGTGGCCGGCAGCGTCC 0.697 0 34.0 38.0 37.0 9 140127061 2199 4286 6485 SO:0001819 synonymous_variant AB055000 CCDS7038.1 9q34.3 2013-07-17 2013-07-17 ENSG00000198569 ENSG00000198569 """Solute carriers""" 20305 protein-coding gene gene with protein product 609826 """solute carrier family 34 (sodium phosphate), member 3""" 11880379, 16358215, 16358214 Standard NM_080877 Approved NPTIIc, FLJ38680 uc004cmf.1 Q8N130 OTTHUMG00000131780 ENST00000538474.1:c.210C>T 9.37:g.140127061C>T A2BFA1 ENST00000538474.1 37 CCDS7038.1 SLC34A3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254712.1 -0.208111 0 -10 88 0 0 1 0 NM_080877 6 13.287800 69 0.080000 CNTNAP5 129684 broad.mit.edu hg19 2 125204489 125204489 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:125204489C>T ENST00000431078.1 + 6 1257 c.893C>T c.(892-894)aCg>aTg p.T298M NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 298 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AAGGGCGAGACGGATGCCTTA 0.557 1 107.0 112.0 110.0 2 125204489 2168 4276 6444 SO:0001583 missense AB077881 CCDS46401.1 2q14.1 2008-02-05 ENSG00000155052 ENSG00000155052 18748 protein-coding gene gene with protein product 610519 Standard NM_130773 Approved caspr5, FLJ31966 uc002tno.3 Q8WYK1 OTTHUMG00000153356 ENST00000431078.1:c.893C>T 2.37:g.125204489C>T ENSP00000399013:p.Thr298Met Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7 ENST00000431078.1 37 CCDS46401.1 . . . . . . . . . . C 15.30 2.791954 0.50102 0.0 1.17E-4 ENSG00000155052 ENST00000431078 T 0.78126 -1.15 5.78 4.85 0.62838 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.424939 0.19905 N 0.103430 T 0.77772 0.4180 L 0.40543 1.245 0.20196 N 0.999928 P 0.41450 0.75 P 0.47528 0.549 T 0.72564 -0.4255 10 0.62326 D 0.03 . 16.6118 0.84885 0.0:0.8704:0.1296:0.0 . 298 Q8WYK1 CNTP5_HUMAN M 298 ENSP00000399013:T298M ENSP00000399013:T298M T + 2 0 CNTNAP5 124920959 0.987000 0.35691 0.028000 0.17463 0.881000 0.50899 3.600000 0.54052 2.894000 0.99253 0.655000 0.94253 ACG CNTNAP5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000330864.3 34.189485 0 1 50 0 0 1 0 12 34.952978 23 0.342857 THBS3 7059 broad.mit.edu hg19 1 155167889 155167889 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:155167889C>T ENST00000368378.3 - 18 2217 c.2197G>A c.(2197-2199)Gtc>Atc p.V733I RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.V613I|THBS3_ENST00000541990.1_Missense_Mutation_p.V262I|THBS3_ENST00000541576.1_Missense_Mutation_p.V130I NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 733 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGATCCAGGACGACGGTCTGA 0.552 0 134.0 111.0 118.0 1 155167889 2203 4300 6503 SO:0001583 missense L38969 CCDS1099.1, CCDS58034.1, CCDS72937.1 1q21 2008-02-05 ENSG00000169231 ENSG00000169231 11787 protein-coding gene gene with protein product 188062 1601886 Standard NM_007112 Approved uc001fix.3 P49746 OTTHUMG00000035710 ENST00000368378.3:c.2197G>A 1.37:g.155167889C>T ENSP00000357362:p.Val733Ile B1AVR8|B4DQ20|Q8WV34 ENST00000368378.3 37 CCDS1099.1 . . . . . . . . . . C 11.23 1.576926 0.28092 . . ENSG00000169231 ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990 D;D;D;D 0.90955 -2.76;-2.76;-2.76;-2.76 5.08 4.15 0.48705 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1); 0.142736 0.46758 N 0.000269 T 0.70159 0.3192 N 0.17674 0.51 0.80722 D 1 B;B;B;B 0.09022 0.002;0.0;0.0;0.0 B;B;B;B 0.04013 0.001;0.0;0.0;0.0 T 0.67309 -0.5703 10 0.30854 T 0.27 -15.494 6.9756 0.24672 0.0:0.797:0.0:0.203 . 613;733;733;733 B4DQ20;Q53FK6;Q2HIZ0;P49746 .;.;.;TSP3_HUMAN I 733;130;613;262 ENSP00000357362:V733I;ENSP00000444792:V130I;ENSP00000392207:V613I;ENSP00000437353:V262I ENSP00000357362:V733I V - 1 0 THBS3 153434513 0.439000 0.25610 0.806000 0.32338 0.998000 0.95712 0.916000 0.28651 1.340000 0.45581 0.563000 0.77884 GTC THBS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086856.1 6.981658 0 -7 50 0 0 1 0 NM_007112 4 10.190752 23 0.148148 SLC18B1 116843 broad.mit.edu hg19 6 133094153 133094153 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:133094153G>A ENST00000275227.4 - 10 1160 c.1064C>T c.(1063-1065)cCg>cTg p.P355L SLC18B1_ENST00000538764.1_Missense_Mutation_p.P229L NM_052831.2 NP_439896.1 Q6NT16 CF192_HUMAN solute carrier family 18, subfamily B, member 1 355 transmembrane transport integral to membrane GAGAATTTCCGGGAAAGTTGG 0.398 0 69.0 70.0 69.0 6 133094153 2203 4300 6503 SO:0001583 missense AK124442 CCDS5163.1 6q22.3-q23.3 2013-05-22 2012-03-09 2012-03-09 ENSG00000146409 ENSG00000146409 """Solute carriers""" 21573 protein-coding gene gene with protein product 613361 """chromosome 6 open reading frame 192""" C6orf192 19697161 Standard XM_006715328 Approved dJ55C23.6 uc003qdw.1 Q6NT16 OTTHUMG00000015595 ENST00000275227.4:c.1064C>T 6.37:g.133094153G>A ENSP00000275227:p.Pro355Leu A8K1K3|B3KW77|Q6ISF2 ENST00000275227.4 37 CCDS5163.1 . . . . . . . . . . G 23.3 4.405589 0.83230 . . ENSG00000146409 ENST00000275227;ENST00000538764 T;T 0.57107 0.42;0.42 5.87 5.01 0.66863 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.050618 0.85682 D 0.000000 T 0.60547 0.2277 M 0.76002 2.32 0.80722 D 1 D;D 0.89917 1.0;0.979 D;P 0.69307 0.963;0.781 T 0.63056 -0.6722 10 0.37606 T 0.19 -10.8111 12.305 0.54898 0.0793:0.0:0.9207:0.0 . 229;355 B7Z1S5;Q6NT16 .;CF192_HUMAN L 355;229 ENSP00000275227:P355L;ENSP00000444098:P229L ENSP00000275227:P355L P - 2 0 C6orf192 133135846 1.000000 0.71417 0.910000 0.35882 0.994000 0.84299 5.535000 0.67173 1.501000 0.48654 0.585000 0.79938 CCG SLC18B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042273.1 14.432651 0 17 53 0 0 1 0 NM_052831 6 17.148848 25 0.193548 SMPD3 55512 broad.mit.edu hg19 16 68405352 68405352 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:68405352C>T ENST00000219334.5 - 3 1336 c.733G>A c.(733-735)Gtg>Atg p.V245M SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M|SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 245 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) CCGATGCGCACGATGCAGGCA 0.726 1 17.0 19.0 18.0 16 68405352 2193 4288 6481 SO:0001583 missense AJ250460 CCDS10867.1 16q22.1 2008-02-05 ENSG00000103056 ENSG00000103056 14240 protein-coding gene gene with protein product 605777 10823942 Standard NM_018667 Approved NSMASE2 uc002ewa.3 Q9NY59 OTTHUMG00000137559 ENST00000219334.5:c.733G>A 16.37:g.68405352C>T ENSP00000219334:p.Val245Met B7ZL82|Q2M1S8 ENST00000219334.5 37 CCDS10867.1 . . . . . . . . . . C 14.87 2.663374 0.47572 . . ENSG00000103056 ENST00000219334 . . . 5.47 4.43 0.53597 . 0.461133 0.24554 N 0.037525 T 0.25344 0.0616 N 0.19112 0.55 0.34592 D 0.715587 D;D;D 0.56035 0.974;0.974;0.974 B;B;B 0.42692 0.395;0.395;0.395 T 0.29761 -1.0001 9 0.49607 T 0.09 -19.6989 5.022 0.14365 0.0:0.7532:0.0:0.2468 . 245;245;245 B7ZL82;B7ZL84;Q9NY59 .;.;NSMA2_HUMAN M 245 . ENSP00000219334:V245M V - 1 0 SMPD3 66962853 0.891000 0.30450 0.975000 0.42487 0.124000 0.20399 1.529000 0.35996 2.563000 0.86464 0.561000 0.74099 GTG SMPD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268895.3 40.007995 0 8 28 0 0 1 0 NM_018667 12 41.263580 3 0.800000 DTNA 1837 broad.mit.edu hg19 18 32395925 32395925 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:32395925C>T ENST00000283365.9 + 8 1007 c.656C>T c.(655-657)cCg>cTg p.P219L DTNA_ENST00000399121.5_Missense_Mutation_p.P219L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.P219L|DTNA_ENST00000444659.1_Missense_Mutation_p.P219L|DTNA_ENST00000554864.3_Missense_Mutation_p.P219L|DTNA_ENST00000597599.1_Missense_Mutation_p.P219L|DTNA_ENST00000315456.6_Missense_Mutation_p.P219L|DTNA_ENST00000598334.1_Missense_Mutation_p.P219L|DTNA_ENST00000598774.1_Missense_Mutation_p.P219L|DTNA_ENST00000399113.3_Missense_Mutation_p.P219L|DTNA_ENST00000348997.5_Missense_Mutation_p.P219L|DTNA_ENST00000598142.1_Missense_Mutation_p.P219L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000595022.1_Missense_Mutation_p.P219L|DTNA_ENST00000269191.6_Missense_Mutation_p.P219L NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 219 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GATCCTCCCCCGCAGTGTCTG 0.393 5 156.0 152.0 153.0 18 32395925 2203 4300 6503 SO:0001583 missense U84540 CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1 18q12 2014-09-17 ENSG00000134769 ENSG00000134769 3057 protein-coding gene gene with protein product """dystrophin-related protein 3""" 601239 8081380, 15834686 Standard NM_001390 Approved D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3 uc010dmn.1 Q9Y4J8 OTTHUMG00000132309 ENST00000399113.3:c.656C>T 18.37:g.32395925C>T ENSP00000382064:p.Pro219Leu A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59 ENST00000399113.3 37 CCDS59311.1 . . . . . . . . . . C 34 5.392049 0.95988 . . ENSG00000134769 ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113 D;D;D;D;D;D;D;D 0.91351 -2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83 6.04 6.04 0.98038 EF-hand domain, type 2 (1); 0.000000 0.85682 D 0.000000 D 0.96803 0.8956 M 0.92219 3.285 0.80722 D 1 D;D;D;D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D;D;D;D;D;D 0.97110 1.0;1.0;0.998;1.0;0.994;0.999;1.0;1.0;1.0;0.998;1.0 D 0.96821 0.9604 10 0.87932 D 0 -17.9229 20.5948 0.99439 0.0:1.0:0.0:0.0 . 219;219;219;219;219;219;230;219;219;219;219 Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7 DTNA_HUMAN;.;.;.;.;.;.;.;.;.;. L 219 ENSP00000283365:P219L;ENSP00000322519:P219L;ENSP00000269190:P219L;ENSP00000336682:P219L;ENSP00000382072:P219L;ENSP00000405819:P219L;ENSP00000269191:P219L;ENSP00000382064:P219L ENSP00000269190:P219L P + 2 0 DTNA 30649923 1.000000 0.71417 0.664000 0.29753 0.943000 0.58893 7.743000 0.85020 2.873000 0.98535 0.563000 0.77884 CCG DTNA-005 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000255422.2 239.170479 0 -12 196 0 0 1 0 NM_001390 76 240.384592 108 0.413043 C1QTNF8 390664 broad.mit.edu hg19 16 1143802 1143802 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:1143802G>A ENST00000328449.5 - 4 731 c.458C>T c.(457-459)gCg>gTg p.A153V NM_207419.3 NP_997302.2 P60827 C1QT8_HUMAN C1q and tumor necrosis factor related protein 8 153 C1q. collagen lung(2)|prostate(1)|skin(1) 4 Hepatocellular(780;0.00369) GAAGCGGCCCGCGGCCAGGTC 0.667 0 33.0 38.0 36.0 16 1143802 2195 4292 6487 SO:0001583 missense AY358832 CCDS32358.1 16p13.3 2014-08-12 ENSG00000184471 ENSG00000184471 31374 protein-coding gene gene with protein product 614147 12975309 Standard NM_207419 Approved UNQ5829, CTRP8 uc010uuw.1 P60827 OTTHUMG00000167756 ENST00000328449.5:c.458C>T 16.37:g.1143802G>A ENSP00000330426:p.Ala153Val B7U178 ENST00000328449.5 37 CCDS32358.1 . . . . . . . . . . g 9.290 1.050284 0.19827 . . ENSG00000184471 ENST00000328449 T 0.75477 -0.94 3.52 0.366 0.16136 Tumour necrosis factor-like (2);Complement C1q protein (3); 0.874660 0.09560 N 0.785696 T 0.62708 0.2450 L 0.48642 1.525 0.09310 N 1 P 0.49185 0.92 B 0.38106 0.265 T 0.53878 -0.8376 10 0.72032 D 0.01 . 6.4102 0.21686 0.1013:0.3577:0.541:0.0 . 153 P60827 C1QT8_HUMAN V 153 ENSP00000330426:A153V ENSP00000330426:A153V A - 2 0 C1QTNF8 1083803 0.002000 0.14202 0.000000 0.03702 0.009000 0.06853 1.090000 0.30902 -0.067000 0.12976 -0.127000 0.14921 GCG C1QTNF8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000396120.1 3.739690 0 9 68 0 0 1 0 XM_372606 5 11.476017 44 0.102041 PIGU 128869 broad.mit.edu hg19 20 33169374 33169374 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:33169374G>A ENST00000374820.2 - 9 989 c.969C>T c.(967-969)ccC>ccT p.P323P PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Silent_p.P343P Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 343 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 GGTTCCACACGGGGAAGAAGG 0.532 0 62.0 46.0 51.0 20 33169374 2203 4300 6503 SO:0001819 synonymous_variant AL118520 CCDS13239.1 20q11.22 2013-02-26 2006-11-07 2006-11-07 ENSG00000101464 ENSG00000101464 """Phosphatidylinositol glycan anchor biosynthesis""" 15791 protein-coding gene gene with protein product """GPI transamidase subunit""" 608528 """CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)""" CDC91L1 12802054, 15034568 Standard NM_080476 Approved bA346K17.2, GAB1 uc002xas.3 Q9H490 OTTHUMG00000032304 ENST00000374820.2:c.969C>T 20.37:g.33169374G>A Q7Z489|Q8N2F2 ENST00000374820.2 37 PIGU-201 KNOWN basic protein_coding protein_coding 14.169991 0 -6 10 0 0 1 0 NM_080476 5 14.539005 10 0.333333 FNDC1 84624 broad.mit.edu hg19 6 159646638 159646638 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:159646638G>A ENST00000297267.9 + 8 1156 c.956G>A c.(955-957)cGt>cAt p.R319H FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.R319H NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 319 Fibronectin type-III 3. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCTAACAGGCGTGTGCTGATT 0.463 0 233.0 233.0 233.0 6 159646638 1966 4165 6131 SO:0001583 missense AB058769 CCDS47512.1 6q25 2013-02-11 ENSG00000164694 ENSG00000164694 """Fibronectin type III domain containing""" 21184 protein-coding gene gene with protein product 609991 """fibronectin type III domain containing 2""" FNDC2 11347906 Standard NM_032532 Approved bA243O10.1, KIAA1866, dJ322A24.1 uc010kjv.3 Q4ZHG4 OTTHUMG00000015927 ENST00000297267.9:c.956G>A 6.37:g.159646638G>A ENSP00000297267:p.Arg319His A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1 ENST00000297267.9 37 CCDS47512.1 . . . . . . . . . . G 20.6 4.019229 0.75275 . . ENSG00000164694 ENST00000297267;ENST00000340366 T;T 0.57107 0.42;0.42 5.84 5.84 0.93424 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 T 0.65585 0.2705 L 0.55481 1.735 0.39551 D 0.968971 D;D 0.89917 1.0;1.0 D;D 0.97110 0.999;1.0 T 0.65207 -0.6224 10 0.59425 D 0.04 -18.2714 20.1346 0.98019 0.0:0.0:1.0:0.0 . 319;319 Q4ZHG4-2;Q4ZHG4 .;FNDC1_HUMAN H 319 ENSP00000297267:R319H;ENSP00000342460:R319H ENSP00000297267:R319H R + 2 0 FNDC1 159566626 1.000000 0.71417 0.382000 0.26119 0.521000 0.34408 9.347000 0.97059 2.765000 0.95021 0.655000 0.94253 CGT FNDC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042897.3 133.944794 0 -12 163 0 0 1 0 NM_032532 45 135.591141 75 0.375000 COL22A1 169044 broad.mit.edu hg19 8 139767423 139767423 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:139767423C>T ENST00000303045.6 - 21 2454 c.2008G>A c.(2008-2010)Gcc>Acc p.A670T COL22A1_ENST00000435777.1_Missense_Mutation_p.A670T NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 670 Collagen-like 4.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGACCGGGGGCGCCTTGGTGA 0.552 0 71.0 76.0 75.0 8 139767423 2203 4300 6503 SO:0001583 missense AF406780 CCDS6376.1 8q24.3 2013-01-16 ENSG00000169436 ENSG00000169436 """Collagens""" 22989 protein-coding gene gene with protein product 610026 Standard NM_152888 Approved uc003yvd.3 Q8NFW1 OTTHUMG00000150035 ENST00000303045.6:c.2008G>A 8.37:g.139767423C>T ENSP00000303153:p.Ala670Thr B7ZMH0|C9K0G4|Q8IVT9 ENST00000303045.6 37 CCDS6376.1 . . . . . . . . . . G 13.99 2.403248 0.42613 . . ENSG00000169436 ENST00000303045;ENST00000435777;ENST00000545577 D;D 0.94330 -3.4;-3.4 4.98 4.98 0.66077 . 0.990272 0.08191 N 0.983813 D 0.89001 0.6591 L 0.31845 0.965 0.09310 N 0.999995 B 0.09022 0.002 B 0.08055 0.003 T 0.74771 -0.3552 10 0.15499 T 0.54 . 11.4433 0.50109 0.0:0.1814:0.8186:0.0 . 670 Q8NFW1 COMA1_HUMAN T 670;670;383 ENSP00000303153:A670T;ENSP00000387655:A670T ENSP00000303153:A670T A - 1 0 COL22A1 139836605 1.000000 0.71417 0.788000 0.31933 0.084000 0.17831 1.926000 0.40084 1.350000 0.45770 -0.187000 0.12897 GCC COL22A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000315905.2 51.265440 0 -6 58 0 0 1 0 XM_291257 17 51.854818 28 0.377778 CIITA 4261 broad.mit.edu hg19 16 11001145 11001145 + Missense_Mutation SNP G G A rs141095229 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:11001145G>A ENST00000324288.8 + 11 1929 c.1796G>A c.(1795-1797)cGg>cAg p.R599Q CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 599 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 ACGCTCCTCCGGGACCGGCCA 0.622 0 38.0 36.0 37.0 16 11001145 2195 4300 6495 SO:0001583 missense U18259 CCDS10544.1, CCDS66943.1, CCDS73826.1 16p13 2014-09-17 2005-08-12 2005-08-12 ENSG00000179583 ENSG00000179583 """Nucleotide-binding domain and leucine rich repeat containing""" 7067 protein-coding gene gene with protein product """NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing""" 600005 """MHC class II transactivator""" MHC2TA 8402893 Standard NM_000246 Approved C2TA, NLRA uc002dai.4 P33076 OTTHUMG00000129753 ENST00000324288.8:c.1796G>A 16.37:g.11001145G>A ENSP00000316328:p.Arg599Gln A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4 ENST00000324288.8 37 CCDS10544.1 . . . . . . . . . . G 6.458 0.452639 0.12283 0.0 1.16E-4 ENSG00000179583 ENST00000324288;ENST00000388910 T 0.80909 -1.43 5.1 -4.74 0.03249 NACHT nucleoside triphosphatase (1); 1.375580 0.04775 N 0.428783 T 0.62183 0.2407 N 0.17278 0.47 0.09310 N 1 B;B;B;B 0.20261 0.002;0.002;0.043;0.001 B;B;B;B 0.16289 0.003;0.001;0.015;0.001 T 0.49579 -0.8925 10 0.14656 T 0.56 . 7.8264 0.29318 0.5702:0.0:0.3207:0.1091 . 599;599;551;599 A0N0N9;P33076;F2Z2G8;Q96KL4 .;C2TA_HUMAN;.;. Q 599;551 ENSP00000316328:R599Q ENSP00000316328:R599Q R + 2 0 CIITA 10908646 0.000000 0.05858 0.000000 0.03702 0.210000 0.24377 -0.048000 0.11944 -1.468000 0.01892 -0.768000 0.03414 CGG CIITA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251966.2 18.344654 0 -2 32 0 0 1 0 NM_000246 6 18.787138 12 0.333333 COL4A1 1282 broad.mit.edu hg19 13 110804776 110804776 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr13:110804776C>T ENST00000375820.4 - 51 4954 c.4833G>A c.(4831-4833)gcG>gcA p.A1611A NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1611 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CGATGAATGGCGCACTTCTAA 0.587 0 70.0 59.0 63.0 13 110804776 2203 4300 6503 SO:0001819 synonymous_variant J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 """Collagens""" 2202 protein-coding gene gene with protein product 120130 3691802 Standard NM_001845 Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.4833G>A 13.37:g.110804776C>T A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 ENST00000375820.4 37 CCDS9511.1 COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045759.3 78.941574 0 -2 111 0 0 1 0 26 79.292882 36 0.419355 NWD1 284434 broad.mit.edu hg19 19 16860798 16860798 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:16860798C>T ENST00000524140.2 + 6 1763 c.1345C>T c.(1345-1347)Cgg>Tgg p.R449W NWD1_ENST00000552788.1_Missense_Mutation_p.R449W|NWD1_ENST00000339803.6_Missense_Mutation_p.R314W|NWD1_ENST00000379808.3_Missense_Mutation_p.R449W|NWD1_ENST00000549814.1_Missense_Mutation_p.R449W|NWD1_ENST00000523826.1_Missense_Mutation_p.R243W NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 449 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCGCCATGCTCGGAGGGTTCC 0.597 0 75.0 73.0 73.0 19 16860798 2203 4300 6503 SO:0001583 missense BX648940 CCDS32945.1, CCDS32945.2 19p13.11 2013-01-09 ENSG00000188039 """WD repeat domain containing""" 27619 protein-coding gene gene with protein product Standard NM_001007525 Approved uc002neu.4 Q149M9 ENST00000524140.2:c.1345C>T 19.37:g.16860798C>T ENSP00000428579:p.Arg449Trp C9J021|Q68CT3 ENST00000524140.2 37 CCDS32945.2 . . . . . . . . . . c 11.50 1.655792 0.29425 0.0 1.16E-4 ENSG00000188039 ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803 T;T;T;T;T;T 0.79940 -1.32;-1.32;-1.32;-1.32;-1.32;-1.32 4.48 -1.01 0.10169 . 0.851889 0.10202 N 0.703233 D 0.85957 0.5818 M 0.78049 2.395 0.09310 N 1 D;D;D 0.71674 0.998;0.997;0.998 P;P;P 0.57846 0.761;0.736;0.828 T 0.77419 -0.2595 10 0.39692 T 0.17 -7.41 12.7226 0.57149 0.5394:0.4606:0.0:0.0 . 449;449;314 Q149M9;Q149M9-3;C9J2Y8 NWD1_HUMAN;.;. W 314;449;449;449;243;449;314 ENSP00000428579:R449W;ENSP00000447548:R449W;ENSP00000369136:R449W;ENSP00000428955:R243W;ENSP00000447224:R449W;ENSP00000340159:R314W ENSP00000340159:R314W R + 1 2 NWD1 16721798 0.084000 0.21492 0.000000 0.03702 0.005000 0.04900 1.890000 0.39728 0.067000 0.16545 -0.183000 0.12914 CGG NWD1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000379040.3 -9.059299 0 -17 111 0 0 1 0 NM_001007525 4 7.840602 75 0.050633 FMO3 2328 broad.mit.edu hg19 1 171086253 171086253 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:171086253G>A ENST00000367755.4 + 9 1381 c.1270G>A c.(1270-1272)Gag>Aag p.E424K FMO3_ENST00000392085.2_Missense_Mutation_p.E424K|FMO3_ENST00000538429.1_Missense_Mutation_p.E361K|FMO3_ENST00000542847.1_Missense_Mutation_p.E404K NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 424 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGCAAAAGCGAGACCATACA 0.438 0 96.0 95.0 95.0 1 171086253 2203 4300 6503 SO:0001583 missense BC032016 CCDS1292.1 1q24.3 2013-10-01 ENSG00000007933 ENSG00000007933 3771 protein-coding gene gene with protein product 136132 8486388, 9417913 Standard NM_001002294 Approved uc001ghh.3 P31513 OTTHUMG00000035505 ENST00000367755.4:c.1270G>A 1.37:g.171086253G>A ENSP00000356729:p.Glu424Lys B2R816|Q14854|Q8N5N5 ENST00000367755.4 37 CCDS1292.1 . . . . . . . . . . G 8.806 0.934057 0.18206 . . ENSG00000007933 ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429 T;T;T;T 0.51817 0.69;0.69;0.69;0.69 5.34 -1.76 0.08006 . 0.656233 0.16519 N 0.210874 T 0.09512 0.0234 N 0.16833 0.445 0.09310 N 1 B;B;B 0.32071 0.355;0.013;0.0 B;B;B 0.23852 0.049;0.004;0.003 T 0.17776 -1.0358 10 0.38643 T 0.18 -0.1812 6.9481 0.24530 0.4067:0.3774:0.2159:0.0 . 361;404;424 F5H261;F5GZZ8;P31513 .;.;FMO3_HUMAN K 424;424;404;361 ENSP00000356729:E424K;ENSP00000375935:E424K;ENSP00000444073:E404K;ENSP00000439500:E361K ENSP00000356729:E424K E + 1 0 FMO3 169352877 0.000000 0.05858 0.001000 0.08648 0.059000 0.15707 -1.213000 0.02991 -0.028000 0.13850 0.655000 0.94253 GAG FMO3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086219.1 78.834050 0 -23 51 0 0 1 0 NM_006894 23 79.314294 14 0.621622 ZC3H13 23091 broad.mit.edu hg19 13 46616352 46616352 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr13:46616352C>T ENST00000242848.4 - 4 634 c.286G>A c.(286-288)Gtg>Atg p.V96M ZC3H13_ENST00000282007.3_Missense_Mutation_p.V96M Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 96 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCAGTGTCCACGTCTTGGCGC 0.413 0 211.0 193.0 199.0 13 46616352 2203 4300 6503 SO:0001583 missense AB020660 CCDS9400.1 13q14.11 2012-07-05 2006-05-15 2006-05-15 ENSG00000123200 ENSG00000123200 """Zinc fingers, CCCH-type domain containing""" 20368 protein-coding gene gene with protein product """KIAA0853""" KIAA0853 10048485 Standard XM_005266301 Approved DKFZp434D1812 uc001vas.1 Q5T200 OTTHUMG00000016863 ENST00000282007.3:c.286G>A 13.37:g.46616352C>T ENSP00000282007:p.Val96Met A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6 ENST00000282007.3 37 CCDS9400.1 . . . . . . . . . . C 11.66 1.705657 0.30232 . . ENSG00000123200 ENST00000242848;ENST00000282007;ENST00000428921 T;T 0.38077 2.11;1.16 5.43 4.59 0.56863 . 0.000000 0.51477 D 0.000087 T 0.23806 0.0576 L 0.27053 0.805 0.80722 D 1 P;P 0.50369 0.892;0.934 B;B 0.37650 0.13;0.255 T 0.03651 -1.1016 10 0.54805 T 0.06 . 11.295 0.49274 0.0:0.8533:0.0:0.1467 . 96;96 Q5T200;Q5T200-2 ZC3HD_HUMAN;. M 96 ENSP00000242848:V96M;ENSP00000282007:V96M ENSP00000242848:V96M V - 1 0 ZC3H13 45514353 1.000000 0.71417 1.000000 0.80357 0.540000 0.34992 3.503000 0.53340 1.300000 0.44818 0.467000 0.42956 GTG ZC3H13-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000044790.2 7.741504 0 3 87 0 0 1 0 NM_015070 8 19.765855 69 0.103896 F7 2155 broad.mit.edu hg19 13 113772927 113772927 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr13:113772927G>A ENST00000375581.3 + 9 1041 c.1006G>A c.(1006-1008)Gtg>Atg p.V336M F7_ENST00000541084.1_Missense_Mutation_p.V267M|F7_ENST00000346342.3_Missense_Mutation_p.V314M NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 336 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) GCTGGCCTTCGTGCGCTTCTC 0.677 0 50.0 44.0 46.0 13 113772927 2202 4298 6500 SO:0001583 missense CCDS9528.1, CCDS9529.1, CCDS73602.1 13q34 2014-02-03 ENSG00000057593 ENSG00000057593 3544 protein-coding gene gene with protein product """eptacog alfa"", ""FVII coagulation protein"", ""factor VII""" 613878 3264725, 2511201 Standard NM_000131 Approved uc001vsv.4 P08709 OTTHUMG00000017373 ENST00000375581.3:c.1006G>A 13.37:g.113772927G>A ENSP00000364731:p.Val336Met B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54 ENST00000375581.3 37 CCDS9528.1 . . . . . . . . . . G 9.376 1.071860 0.20147 2.27E-4 0.0 ENSG00000057593 ENST00000346342;ENST00000541084;ENST00000375581 D;D;D 0.88509 -2.39;-2.39;-2.39 4.41 -2.42 0.06542 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.386281 0.26616 N 0.023387 D 0.89037 0.6601 L 0.46157 1.445 0.20563 N 0.99989 D;D;D 0.76494 0.998;0.998;0.999 D;P;P 0.64776 0.929;0.866;0.889 T 0.82502 -0.0425 10 0.45353 T 0.12 . 9.9882 0.41854 0.5973:0.0:0.4027:0.0 . 267;314;336 F5H8B0;P08709-2;P08709 .;.;FA7_HUMAN M 314;267;336 ENSP00000329546:V314M;ENSP00000442051:V267M;ENSP00000364731:V336M ENSP00000329546:V314M V + 1 0 F7 112820928 0.180000 0.23148 0.045000 0.18777 0.011000 0.07611 0.625000 0.24477 -0.303000 0.08856 -0.373000 0.07131 GTG F7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000045838.4 18.715348 0 -9 29 0 0 1 0 NM_000131 7 19.648349 17 0.291667 NOTCH2 4853 broad.mit.edu hg19 1 120506201 120506201 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:120506201C>T ENST00000256646.2 - 11 2130 c.1911G>A c.(1909-1911)acG>acA p.T637T NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 637 EGF-like 16; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCTTACCTGACGTGCCTGGCT 0.483 1 204.0 177.0 186.0 1 120506201 2203 4300 6503 SO:0001819 synonymous_variant AF315356 CCDS908.1 1p13-p11 2013-01-10 2010-06-24 ENSG00000134250 ENSG00000134250 """Ankyrin repeat domain containing""" 7882 protein-coding gene gene with protein product 600275 """Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)""" 7698746 Standard NM_001200001 Approved uc001eik.3 Q04721 OTTHUMG00000012177 ENST00000256646.2:c.1911G>A 1.37:g.120506201C>T Q5T3X7|Q99734|Q9H240 ENST00000256646.2 37 CCDS908.1 NOTCH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033679.1 -9.011320 0 -34 192 0 0 1 0 NM_024408 9 19.955321 136 0.062069 DNAH2 146754 broad.mit.edu hg19 17 7696114 7696114 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:7696114G>A ENST00000572933.1 + 47 8745 c.7285G>A c.(7285-7287)Gtt>Att p.V2429I DNAH2_ENST00000389173.2_Missense_Mutation_p.V2429I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2429 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGCCCAGAGCGTTCTGCAGTC 0.632 1 74.0 67.0 69.0 17 7696114 2203 4300 6503 SO:0001583 missense U83570, AK128517 CCDS32551.1 17p13.1 2007-10-05 2006-09-04 ENSG00000183914 """Axonemal dyneins""" 2948 protein-coding gene gene with protein product 603333 """dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3""" DNHD3 9256245 Standard XM_005256470 Approved KIAA1503, FLJ46675 uc002giu.1 Q9P225 ENST00000572933.1:c.7285G>A 17.37:g.7696114G>A ENSP00000458355:p.Val2429Ile A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42 ENST00000572933.1 37 CCDS32551.1 . . . . . . . . . . G 18.93 3.726781 0.69074 . . ENSG00000183914 ENST00000360606;ENST00000389173 T 0.17054 2.3 5.47 5.47 0.80525 ATPase, AAA+ type, core (1); 0.000000 0.64402 D 0.000001 T 0.21227 0.0511 L 0.61218 1.895 0.80722 D 1 P 0.46142 0.873 B 0.39590 0.304 T 0.02691 -1.1123 10 0.27785 T 0.31 . 18.1078 0.89526 0.0:0.0:1.0:0.0 . 2429 Q9P225 DYH2_HUMAN I 2429 ENSP00000373825:V2429I ENSP00000353818:V2429I V + 1 0 DNAH2 7636839 1.000000 0.71417 0.946000 0.38457 0.785000 0.44390 5.842000 0.69417 2.573000 0.86826 0.643000 0.83706 GTT DNAH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440241.1 26.536550 0 2 64 0 0 1 0 NM_020877 10 28.134896 26 0.277778 KCNMA1 3778 broad.mit.edu hg19 10 78651328 78651328 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:78651328G>A ENST00000286627.5 - 25 4075 c.3123C>T c.(3121-3123)cgC>cgT p.R1041R KCNMA1_ENST00000354353.5_Silent_p.R1102R|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Silent_p.R1068R|KCNMA1_ENST00000406533.3_Silent_p.R1103R|KCNMA1_ENST00000372440.1_Silent_p.R1041R|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.R1099R|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.R1099R|KCNMA1_ENST00000404857.1_Silent_p.R1082R|RP11-443A13.5_ENST00000595702.1_RNA NM_001271519.1|NM_002247.3 NP_001258448.1|NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 1099 Segment S10. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) ACTGGGCCACGCGGCAGCGGT 0.607 0 42.0 40.0 41.0 10 78651328 2203 4300 6503 SO:0001819 synonymous_variant U11717 CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1 10q22 2012-07-05 ENSG00000156113 ENSG00000156113 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated""" 6284 protein-coding gene gene with protein product """BK channel alpha subunit""" 600150 SLO 7987297, 16382103 Standard NM_002247 Approved KCa1.1, mSLO1 uc001jxn.3 Q12791 OTTHUMG00000018543 ENST00000286627.5:c.3123C>T 10.37:g.78651328G>A F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6 ENST00000286627.5 37 CCDS7352.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 2.688|2.688 -0.273736|-0.273736 0.05679|0.05679 0.0|0.0 1.16E-4|1.16E-4 ENSG00000156113|ENSG00000156113 ENST00000372403|ENST00000372421;ENST00000434208 .|T .|0.21932 .|1.98 5.61|5.61 -11.2|-11.2 0.00127|0.00127 .|. .|0.000000 .|0.85682 .|D .|0.000000 T|T 0.17577|0.17577 0.0422|0.0422 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. T|T 0.61232|0.61232 -0.7104|-0.7104 4|7 .|0.87932 .|D .|0 -9.6252|-9.6252 2.4339|2.4339 0.04478|0.04478 0.413:0.2406:0.0732:0.2732|0.413:0.2406:0.0732:0.2732 .|. .|. .|. .|. V|C 992|1030;749 .|ENSP00000402150:R749C .|ENSP00000361498:R1030C A|R -|- 2|1 0|0 KCNMA1|KCNMA1 78321334|78321334 0.001000|0.001000 0.12720|0.12720 0.044000|0.044000 0.18714|0.18714 0.451000|0.451000 0.32288|0.32288 -1.897000|-1.897000 0.01603|0.01603 -3.516000|-3.516000 0.00148|0.00148 -0.143000|-0.143000 0.13931|0.13931 GCG|CGT KCNMA1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000048877.3 31.319184 0 -11 25 0 0 1 0 NM_002247 11 31.521555 16 0.407407 CTTNBP2 83992 broad.mit.edu hg19 7 117375046 117375046 + Missense_Mutation SNP C C T rs35288952 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:117375046C>T ENST00000160373.3 - 16 3888 c.3797G>A c.(3796-3798)cGc>cAc p.R1266H NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1266 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CTGCACCCAGCGGAAATGCTG 0.532 0 69.0 72.0 71.0 7 117375046 2203 4300 6503 SO:0001583 missense CCDS5774.1 7q31 2013-01-10 2004-06-08 2004-06-09 ENSG00000077063 ENSG00000077063 """Ankyrin repeat domain containing""" 15679 protein-coding gene gene with protein product 609772 """cortactin binding protein 2""" CORTBP2, C7orf8 11707066 Standard XM_005250635 Approved KIAA1758, Orf4 uc003vjf.3 Q8WZ74 OTTHUMG00000022880 ENST00000160373.3:c.3797G>A 7.37:g.117375046C>T ENSP00000160373:p.Arg1266His O43389|Q7LG11|Q9C0A5 ENST00000160373.3 37 CCDS5774.1 . . . . . . . . . . C 25.2 4.608420 0.87258 . . ENSG00000077063 ENST00000160373 T 0.77358 -1.09 5.38 4.5 0.54988 . 0.000000 0.85682 D 0.000000 D 0.87629 0.6225 M 0.87547 2.89 0.58432 D 0.999998 D 0.89917 1.0 D 0.69479 0.964 D 0.88751 0.3250 10 0.87932 D 0 -4.1387 10.1297 0.42672 0.1363:0.7925:0.0:0.0712 . 1266 Q8WZ74 CTTB2_HUMAN H 1266 ENSP00000160373:R1266H ENSP00000160373:R1266H R - 2 0 CTTNBP2 117162282 1.000000 0.71417 1.000000 0.80357 0.952000 0.60782 5.438000 0.66550 1.390000 0.46547 0.655000 0.94253 CGC CTTNBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059201.4 19.791701 0 -2 37 0 0 1 0 NM_033427 8 22.149898 27 0.228571 WDR16 146845 broad.mit.edu hg19 17 9532119 9532119 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:9532119G>A ENST00000352665.5 + 9 1225 c.1156G>A c.(1156-1158)Ggc>Agc p.G386S WDR16_ENST00000299764.5_Missense_Mutation_p.G396S|WDR16_ENST00000396219.3_Missense_Mutation_p.G318S NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 386 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 CATGAGGGACGGCAAAAGCAT 0.522 0 137.0 103.0 115.0 17 9532119 2203 4300 6503 SO:0001583 missense AB065281 CCDS11149.2, CCDS42262.1 17p13.1 2014-08-01 ENSG00000166596 ENSG00000166596 """WD repeat domain containing""" 16053 protein-coding gene gene with protein product """WD40-repeat protein upregulated in HCC""" 609804 15967112 Standard NM_001080556 Approved WDRPUH, FLJ37528 uc002gly.3 Q8N1V2 OTTHUMG00000150149 ENST00000352665.5:c.1156G>A 17.37:g.9532119G>A ENSP00000339449:p.Gly386Ser ENST00000352665.5 37 CCDS11149.2 . . . . . . . . . . G 32 5.156536 0.94686 . . ENSG00000166596 ENST00000352665;ENST00000396219;ENST00000299764 T;T;T 0.56611 0.45;2.35;1.91 5.64 5.64 0.86602 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.76716 0.4026 M 0.84773 2.715 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 T 0.79235 -0.1887 10 0.59425 D 0.04 -24.8957 18.4726 0.90779 0.0:0.0:1.0:0.0 . 396;318;386 Q8N1V2-2;Q8N1V2-3;Q8N1V2 .;.;WDR16_HUMAN S 386;318;396 ENSP00000339449:G386S;ENSP00000379521:G318S;ENSP00000299764:G396S ENSP00000299764:G396S G + 1 0 WDR16 9472844 1.000000 0.71417 0.966000 0.40874 0.829000 0.46940 9.250000 0.95477 2.637000 0.89404 0.563000 0.77884 GGC WDR16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316569.2 29.972805 0 0 81 0 0 1 0 NM_145054 12 33.614731 41 0.226415 CASKIN1 57524 broad.mit.edu hg19 16 2231447 2231447 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:2231447G>A ENST00000343516.6 - 18 2014 c.1922C>T c.(1921-1923)cCg>cTg p.P641L NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 641 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 GCAGTCGGCCGGTGTGGGCTC 0.672 0 16.0 24.0 22.0 16 2231447 1975 4138 6113 SO:0001583 missense AF451977 CCDS42103.1 16p13.3 2013-01-10 ENSG00000167971 """Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing""" 20879 protein-coding gene gene with protein product 612184 12040031 Standard NM_020764 Approved KIAA1306, ANKS5A uc010bsg.1 Q8WXD9 ENST00000343516.6:c.1922C>T 16.37:g.2231447G>A ENSP00000345436:p.Pro641Leu Q9P2P0 ENST00000343516.6 37 CCDS42103.1 . . . . . . . . . . G 9.554 1.116819 0.20795 2.53E-4 1.21E-4 ENSG00000167971 ENST00000343516;ENST00000382453 T 0.68903 -0.36 4.41 4.41 0.53225 . . . . . T 0.50069 0.1594 L 0.36672 1.1 0.48288 D 0.999623 P 0.42556 0.783 B 0.27887 0.084 T 0.60136 -0.7322 9 0.66056 D 0.02 -13.9855 12.367 0.55234 0.0:0.0:1.0:0.0 . 641 Q8WXD9 CSKI1_HUMAN L 641;470 ENSP00000345436:P641L ENSP00000345436:P641L P - 2 0 CASKIN1 2171448 0.998000 0.40836 0.308000 0.25141 0.173000 0.22820 4.591000 0.61019 2.286000 0.76751 0.555000 0.69702 CCG CASKIN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000435055.1 46.757618 0 7 30 0 0 1 0 NM_020764 14 47.472700 6 0.700000 TBC1D15 64786 broad.mit.edu hg19 12 72288569 72288569 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:72288569G>A ENST00000550746.1 + 8 876 c.812G>A c.(811-813)cGa>cAa p.R271Q TBC1D15_ENST00000319106.8_Missense_Mutation_p.R262Q|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R25Q|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R254Q NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 271 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACACATCAACGACCACCTTCA 0.388 0 97.0 96.0 96.0 12 72288569 2203 4299 6502 SO:0001583 missense AL157464 CCDS31858.1, CCDS53814.1, CCDS55849.1 12q15 2013-07-09 ENSG00000121749 ENSG00000121749 25694 protein-coding gene gene with protein product 612662 16055087 Standard NM_022771 Approved FLJ12085, DKFZp761D0223 uc001swu.3 Q8TC07 OTTHUMG00000158553 ENST00000485960.2:c.761G>A 12.37:g.72288569G>A ENSP00000420678:p.Arg254Gln B4DMT9|B9A6L6|J3KNI9|Q9HA83 ENST00000485960.2 37 CCDS53814.1 . . . . . . . . . . G 31 5.103992 0.94245 . . ENSG00000121749 ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309 T;T;T;T 0.08984 3.2;3.23;3.24;3.03 5.35 5.35 0.76521 . 0.066930 0.64402 D 0.000008 T 0.15522 0.0374 N 0.25485 0.75 0.58432 D 0.99999 D;D;D 0.76494 0.999;0.999;0.999 P;D;P 0.63793 0.83;0.918;0.652 T 0.17410 -1.0370 10 0.10636 T 0.68 -10.7911 19.1192 0.93355 0.0:0.0:1.0:0.0 . 262;254;271 E9PH93;Q8TC07-2;Q8TC07 .;.;TBC15_HUMAN Q 271;155;262;254;25 ENSP00000448182:R271Q;ENSP00000318262:R262Q;ENSP00000420678:R254Q;ENSP00000376986:R25Q ENSP00000318262:R262Q R + 2 0 TBC1D15 70574836 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.962000 0.87912 2.519000 0.84933 0.644000 0.83932 CGA TBC1D15-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351267.2 85.481592 0 3 91 0 0 1 0 NM_022771 28 85.515395 31 0.474576 IL17RD 54756 broad.mit.edu hg19 3 57131830 57131830 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:57131830C>T ENST00000296318.7 - 12 1989 c.1901G>A c.(1900-1902)cGg>cAg p.R634Q IL17RD_ENST00000320057.5_Missense_Mutation_p.R490Q|IL17RD_ENST00000463523.1_Missense_Mutation_p.R490Q|IL17RD_ENST00000427856.2_Missense_Mutation_p.R610Q NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 634 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) AAGGGCAGGCCGGGCCTCCCC 0.667 0 19.0 22.0 21.0 3 57131830 2203 4297 6500 SO:0001583 missense AF494208 CCDS2880.2 3p21.1 2008-02-05 ENSG00000144730 ENSG00000144730 """Interleukins and interleukin receptors""" 17616 protein-coding gene gene with protein product 606807 11802164, 12604616 Standard NM_017563 Approved SEF, IL17RLM, FLJ35755, IL-17RD uc003dil.3 Q8NFM7 OTTHUMG00000150171 ENST00000296318.7:c.1901G>A 3.37:g.57131830C>T ENSP00000296318:p.Arg634Gln Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0 ENST00000296318.7 37 CCDS2880.2 . . . . . . . . . . C 9.532 1.111154 0.20714 . . ENSG00000144730 ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523 T;T;T;T 0.08896 3.05;3.04;3.04;3.04 5.4 -1.6 0.08426 . 1.456630 0.03805 N 0.265075 T 0.02848 0.0085 N 0.02011 -0.69 0.09310 N 1 B;B;B 0.10296 0.003;0.001;0.001 B;B;B 0.04013 0.001;0.0;0.001 T 0.39961 -0.9588 10 0.08381 T 0.77 -0.9368 6.0973 0.20027 0.1292:0.2996:0.0:0.5712 . 490;634;610 B4DXM5;Q8NFM7;Q8NFM7-3 .;I17RD_HUMAN;. Q 634;490;610;490 ENSP00000296318:R634Q;ENSP00000322250:R490Q;ENSP00000399209:R610Q;ENSP00000417516:R490Q ENSP00000296318:R634Q R - 2 0 IL17RD 57106870 0.000000 0.05858 0.000000 0.03702 0.019000 0.09904 -0.247000 0.08866 -0.225000 0.09913 -0.229000 0.12294 CGG IL17RD-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316680.1 20.353039 0 -9 12 0 0 1 0 NM_017563 6 20.574593 3 0.666667 ZSCAN20 7579 broad.mit.edu hg19 1 33960849 33960849 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:33960849C>T ENST00000361328.3 + 8 3058 c.2905C>T c.(2905-2907)Cgt>Tgt p.R969C NM_145238.3 NP_660281 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 969 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AAAATTCTTCCGTGACCGTTC 0.498 0 86.0 98.0 94.0 1 33960849 2133 4266 6399 SO:0001583 missense X52360 CCDS41300.1 1p34.3 2013-01-08 2007-02-20 2007-02-20 ENSG00000121903 ENSG00000121903 """-"", ""Zinc fingers, C2H2-type""" 13093 protein-coding gene gene with protein product 611315 """zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31""" ZNF360, ZNF31 2288909 Standard NM_145238 Approved KOX29 uc001bxj.4 P17040 OTTHUMG00000004173 ENST00000361328.3:c.2905C>T 1.37:g.33960849C>T ENSP00000355053:p.Arg969Cys A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84 ENST00000361328.3 37 CCDS41300.1 . . . . . . . . . . C 14.81 2.645830 0.47258 . . ENSG00000121903 ENST00000326544;ENST00000361328;ENST00000401072 . . . 5.66 2.62 0.31277 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.214120 0.33199 N 0.005163 T 0.56292 0.1975 M 0.65975 2.015 0.23391 N 0.997777 D;D 0.89917 1.0;1.0 P;D 0.79784 0.878;0.993 T 0.42565 -0.9444 9 0.56958 D 0.05 -10.9767 7.3491 0.26680 0.4334:0.4902:0.0:0.0764 . 968;969 P17040-3;P17040 .;ZSC20_HUMAN C 969;903;903 . ENSP00000324450:R969C R + 1 0 ZSCAN20 33733436 0.156000 0.22821 0.986000 0.45419 0.997000 0.91878 0.294000 0.19047 0.705000 0.31890 0.655000 0.94253 CGT ZSCAN20-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000277003.2 62.429652 0 6 62 0 0 1 0 NM_145238 19 62.594908 14 0.575758 GLP1R 2740 broad.mit.edu hg19 6 39053698 39053698 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:39053698G>A ENST00000373256.4 + 13 1284 c.1241G>A c.(1240-1242)cGg>cAg p.R414Q NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 414 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 CTGGAATTTCGGAAGAGCTGG 0.547 0 139.0 142.0 141.0 6 39053698 2203 4300 6503 SO:0001583 missense CCDS4839.1 6p21 2012-08-10 ENSG00000112164 ENSG00000112164 """GPCR / Class B : Glucagon receptors""" 4324 protein-coding gene gene with protein product 138032 Standard NM_002062 Approved uc003ooj.4 P43220 OTTHUMG00000014638 ENST00000373256.4:c.1241G>A 6.37:g.39053698G>A ENSP00000362353:p.Arg414Gln Q2M229|Q99669 ENST00000373256.4 37 CCDS4839.1 . . . . . . . . . . G 14.87 2.663489 0.47572 0.0 1.16E-4 ENSG00000112164 ENST00000373256 T 0.64803 -0.12 6.17 5.3 0.74995 . 0.000000 0.64402 D 0.000009 T 0.36248 0.0960 L 0.45285 1.41 0.41956 D 0.990683 B 0.18610 0.029 B 0.17433 0.018 T 0.14392 -1.0474 10 0.22109 T 0.4 . 10.3961 0.44201 0.1911:0.0:0.8089:0.0 . 414 P43220 GLP1R_HUMAN Q 414 ENSP00000362353:R414Q ENSP00000362353:R414Q R + 2 0 GLP1R 39161676 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 1.976000 0.40579 2.941000 0.99782 0.655000 0.94253 CGG GLP1R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040443.1 245.622614 0 -34 213 0 0 1 0 75 245.628300 77 0.493421 TTBK1 84630 broad.mit.edu hg19 6 43251679 43251679 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:43251679G>A ENST00000259750.4 + 14 3284 c.3201G>A c.(3199-3201)tcG>tcA p.S1067S NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1067 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) ACACGGGCTCGGAGCCCTCAG 0.677 0 22.0 22.0 22.0 6 43251679 2175 4237 6412 SO:0001819 synonymous_variant AB058758 CCDS34455.1 6p21.1 2008-02-05 ENSG00000146216 ENSG00000146216 19140 protein-coding gene gene with protein product 11347906 Standard XM_006715229 Approved KIAA1855 uc003ouq.1 Q5TCY1 OTTHUMG00000014725 ENST00000259750.4:c.3201G>A 6.37:g.43251679G>A A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2 ENST00000259750.4 37 CCDS34455.1 TTBK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040584.3 25.197780 0 -3 31 0 0 1 0 8 25.246163 10 0.444444 BIRC5 332 broad.mit.edu hg19 17 76212052 76212052 + Missense_Mutation SNP C C T rs115296168 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:76212052C>T ENST00000301633.4 + 3 358 c.227C>T c.(226-228)cCg>cTg p.P76L BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Intron NM_001012271.1 NP_001012271.1 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 74 anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) TACAGTGggccgggcacggtg 0.582 0 76.0 80.0 79.0 17 76212052 2203 4300 6503 SO:0001583 missense U75285 CCDS11755.1, CCDS32751.1, CCDS32752.1 17q25.3 2013-01-17 2011-01-25 ENSG00000089685 ENSG00000089685 """Baculoviral IAP repeat containing""" 593 protein-coding gene gene with protein product """survivin variant 3 alpha""" 603352 """apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5""" API4 8106347, 7947793 Standard XR_243654 Approved EPR-1, survivin uc002jvf.3 O15392 ENST00000301633.4:c.227C>T 17.37:g.76212052C>T ENSP00000301633:p.Pro76Leu A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8 ENST00000301633.4 37 CCDS32752.1 0 0.0 0 0.0 0 0.0 0 0.0 0 0.0 C 5.906 0.351257 0.11182 0.002497 0.0 ENSG00000089685 ENST00000301633;ENST00000432014 T 0.64803 -0.12 0.352 -0.704 0.11256 . . . . . T 0.60340 0.2261 L 0.28400 0.85 0.09310 N 1 D;D 0.63046 0.99;0.992 P;D 0.63283 0.859;0.913 T 0.51140 -0.8743 8 0.51188 T 0.08 . . . . . 76;53 O15392-2;A3E0Z5 .;. L 76 ENSP00000301633:P76L ENSP00000301633:P76L P + 2 0 BIRC5 73723647 0.001000 0.12720 0.001000 0.08648 0.036000 0.12997 -0.277000 0.08502 -0.424000 0.07382 0.121000 0.15741 CCG BIRC5-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000437234.3 55.446130 0 -13 50 0 0 1 0 NM_001168 20 55.945671 31 0.392157 PVRL1 5818 broad.mit.edu hg19 11 119535574 119535574 + Silent SNP G G A rs141036439 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:119535574G>A ENST00000264025.3 - 6 1967 c.1437C>T c.(1435-1437)gaC>gaT p.D479D PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 479 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCCCGTAGCCGTCCTGACGGG 0.627 0 53.0 48.0 49.0 11 119535574 2199 4295 6494 SO:0001819 synonymous_variant X76400 CCDS8425.1, CCDS8426.1, CCDS8427.1 11q23-q24 2013-01-29 2007-06-07 ENSG00000110400 ENSG00000110400 """CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 9706 protein-coding gene gene with protein product """nectin""" 600644 HVEC, ED4 7721102, 9616127 Standard NM_203285 Approved PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7 uc001pwv.3 Q15223 OTTHUMG00000166177 ENST00000264025.3:c.1437C>T 11.37:g.119535574G>A O75465|Q2M3D3|Q9HBE6|Q9HBW2 ENST00000264025.3 37 CCDS8426.1 PVRL1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388231.1 5.784922 0 -3 36 0 0 1 0 4 8.992273 23 0.148148 RERE 473 broad.mit.edu hg19 1 8716302 8716302 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:8716302G>A ENST00000337907.3 - 3 689 c.55C>T c.(55-57)Cgg>Tgg p.R19W RERE_ENST00000400908.2_Missense_Mutation_p.R19W|RERE_ENST00000400907.2_Missense_Mutation_p.R19W NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 19 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) tctcggtcccggtctcggtcc 0.527 0 148.0 154.0 152.0 1 8716302 2203 4300 6503 SO:0001583 missense AF016005 CCDS95.1, CCDS41243.1 1p36.23 2013-01-25 ENSG00000142599 ENSG00000142599 """GATA zinc finger domain containing""" 9965 protein-coding gene gene with protein product 605226 ATN1L 10814707, 10729226 Standard NM_012102 Approved KIAA0458, ARP, ARG, DNB1 uc001apf.3 Q9P2R6 OTTHUMG00000001765 ENST00000337907.3:c.55C>T 1.37:g.8716302G>A ENSP00000338629:p.Arg19Trp O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 ENST00000337907.3 37 CCDS95.1 . . . . . . . . . . G 16.88 3.244346 0.59103 . . ENSG00000142599 ENST00000337907;ENST00000400907;ENST00000400908 T;T 0.52526 0.66;0.66 5.45 2.34 0.29019 . . . . . T 0.52948 0.1766 N 0.24115 0.695 0.48395 D 0.999647 D 0.89917 1.0 D 0.77557 0.99 T 0.56944 -0.7895 9 0.87932 D 0 -17.8329 13.5119 0.61517 0.0:0.0:0.5942:0.4058 . 19 Q9P2R6 RERE_HUMAN W 19 ENSP00000338629:R19W;ENSP00000383700:R19W ENSP00000338629:R19W R - 1 2 RERE 8638889 1.000000 0.71417 0.998000 0.56505 0.989000 0.77384 2.103000 0.41806 0.623000 0.30267 0.557000 0.71058 CGG RERE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000004916.1 6.075724 0 -33 130 0 0 1 0 10 23.593272 96 0.094340 FMNL1 752 broad.mit.edu hg19 17 43320614 43320614 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:43320614C>T ENST00000331495.3 + 17 2476 c.2140C>T c.(2140-2142)Cgg>Tgg p.R714W FMNL1_ENST00000328118.3_Missense_Mutation_p.R714W|FMNL1_ENST00000587489.1_Missense_Mutation_p.R292W NM_005892.3 NP_005883 O95466 FMNL_HUMAN formin-like 1 714 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TGAGGCCAACCGGGCCAAGAA 0.627 0 71.0 69.0 70.0 17 43320614 2203 4300 6503 SO:0001583 missense AJ008112 CCDS11497.1 17q21.31 2008-05-14 2003-12-02 2003-12-03 ENSG00000184922 1212 protein-coding gene gene with protein product 604656 """formin-like""" C17orf1B, FMNL 9799091 Standard NM_005892 Approved C17orf1 uc002iin.3 O95466 ENST00000331495.3:c.2140C>T 17.37:g.43320614C>T ENSP00000329219:p.Arg714Trp D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10 ENST00000331495.3 37 CCDS11497.1 . . . . . . . . . . c 18.97 3.735048 0.69189 . . ENSG00000184922 ENST00000328118;ENST00000331495;ENST00000539884 T;T 0.22336 1.96;1.96 4.24 2.13 0.27403 Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3); 0.106801 0.64402 D 0.000010 T 0.53498 0.1800 M 0.93550 3.43 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.63501 -0.6623 10 0.87932 D 0 . 11.7488 0.51837 0.4334:0.5666:0.0:0.0 . 714 O95466 FMNL_HUMAN W 714;714;369 ENSP00000327442:R714W;ENSP00000329219:R714W ENSP00000327442:R714W R + 1 2 FMNL1 40676397 0.999000 0.42202 1.000000 0.80357 0.927000 0.56198 0.686000 0.25392 0.484000 0.27630 0.436000 0.28706 CGG FMNL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000450198.1 8.919293 0 21 88 0 0 1 0 NM_005892 6 14.791251 39 0.133333 VWA2 340706 broad.mit.edu hg19 10 116048825 116048825 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:116048825G>A ENST00000603594.1 + 12 2020 c.1699G>A c.(1699-1701)Gtg>Atg p.V567M VWA2_ENST00000392982.3_Missense_Mutation_p.V567M NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 567 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GAACCCTGACGTGACACAGGT 0.592 0 72.0 66.0 68.0 10 116048825 2203 4300 6503 SO:0001583 missense AK127756 CCDS7589.1, CCDS7589.2 10q25.3 2009-11-06 ENSG00000165816 ENSG00000165816 24709 protein-coding gene gene with protein product 15580307, 14506275 Standard NM_001272046 Approved FLJ45857, FLJ16213, CCSP-2, AMACO, NET42 uc001lbl.2 Q5GFL6 OTTHUMG00000019082 ENST00000392982.3:c.1699G>A 10.37:g.116048825G>A ENSP00000376708:p.Val567Met A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8 ENST00000392982.3 37 . . . . . . . . . . G 15.87 2.959384 0.53400 . . ENSG00000165816 ENST00000392982;ENST00000298715 T 0.77750 -1.12 5.43 4.53 0.55603 von Willebrand factor, type A (3); 0.074249 0.53938 D 0.000042 D 0.85932 0.5812 M 0.70275 2.135 0.33620 D 0.604673 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.97110 0.965;1.0;0.999 D 0.89553 0.3801 10 0.48119 T 0.1 . 12.1829 0.54221 0.0797:0.0:0.9203:0.0 . 263;567;567 Q5GFL6-3;Q5GFL6;Q5GFL6-2 .;VWA2_HUMAN;. M 567 ENSP00000376708:V567M ENSP00000298715:V567M V + 1 0 VWA2 116038815 1.000000 0.71417 0.853000 0.33588 0.402000 0.30811 5.569000 0.67391 1.297000 0.44761 -0.140000 0.14226 GTG VWA2-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000050456.3 51.505132 0 -4 34 0 0 1 0 NM_198496 16 51.573246 13 0.551724 KIAA1462 57608 broad.mit.edu hg19 10 30318556 30318556 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:30318556C>T ENST00000375377.1 - 3 622 c.521G>A c.(520-522)cGa>cAa p.R174Q NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 174 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACCTGACATTCGCAATTCTTC 0.547 0 258.0 254.0 255.0 10 30318556 2095 4209 6304 SO:0001583 missense AB040895 CCDS41500.1 10p12.1 2013-04-23 ENSG00000165757 ENSG00000165757 29283 protein-coding gene gene with protein product """junctional protein associated with coronary artery disease""" 614398 10819331, 21884682 Standard NM_020848 Approved JCAD uc001iux.3 Q9P266 OTTHUMG00000017885 ENST00000375377.1:c.521G>A 10.37:g.30318556C>T ENSP00000364526:p.Arg174Gln Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2 ENST00000375377.1 37 CCDS41500.1 . . . . . . . . . . C 15.52 2.858732 0.51376 . . ENSG00000165757 ENST00000375377 T 0.14266 2.52 5.36 4.35 0.52113 . 0.241615 0.38959 N 0.001507 T 0.20170 0.0485 L 0.60455 1.87 0.31077 N 0.712407 D 0.76494 0.999 P 0.55871 0.786 T 0.18713 -1.0328 10 0.45353 T 0.12 -14.9531 2.987 0.05971 0.0:0.4948:0.307:0.1982 . 174 Q9P266 K1462_HUMAN Q 174 ENSP00000364526:R174Q ENSP00000364526:R174Q R - 2 0 KIAA1462 30358562 0.122000 0.22280 0.821000 0.32701 0.016000 0.09150 3.185000 0.50934 2.508000 0.84585 0.655000 0.94253 CGA KIAA1462-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047409.1 2.853603 0 -43 177 0 0 1 0 NM_020848 13 29.855580 141 0.084416 GRHL3 57822 broad.mit.edu hg19 1 24669203 24669203 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:24669203G>A ENST00000361548.4 + 10 1456 c.1226G>A c.(1225-1227)cGc>cAc p.R409H GRHL3_ENST00000342072.4_Missense_Mutation_p.R316H|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363H|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409H|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414H NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 409 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) AGGAAGATGCGCGATGACGAG 0.607 0 91.0 91.0 91.0 1 24669203 2203 4300 6503 SO:0001583 missense AY231161 CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1 1p36 2008-02-05 2005-07-11 2005-07-11 ENSG00000158055 ENSG00000158055 25839 protein-coding gene gene with protein product 608317 """transcription factor CP2-like 4""" TFCP2L4 12549979 Standard NM_021180 Approved SOM uc021oiw.1 Q8TE85 OTTHUMG00000003040 ENST00000361548.4:c.1226G>A 1.37:g.24669203G>A ENSP00000354943:p.Arg409His A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407 ENST00000361548.4 37 CCDS44088.1 . . . . . . . . . . G 33 5.252673 0.95336 . . ENSG00000158055 ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255 T;T;T;T;T 0.18810 2.19;2.19;2.19;2.19;2.19 4.96 4.96 0.65561 . 0.000000 0.85682 D 0.000000 T 0.49541 0.1563 M 0.80616 2.505 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.69824 0.963;0.966;0.966 T 0.54964 -0.8214 10 0.87932 D 0 -26.275 17.3827 0.87408 0.0:0.0:1.0:0.0 . 363;414;409 A2A297;Q8TE85-2;G3XAF0 .;.;. H 409;316;409;363;414 ENSP00000354943:R409H;ENSP00000340543:R316H;ENSP00000288955:R409H;ENSP00000348333:R363H;ENSP00000236255:R414H ENSP00000236255:R414H R + 2 0 GRHL3 24541790 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 9.306000 0.96204 2.585000 0.87301 0.655000 0.94253 CGC GRHL3-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392498.1 43.724237 0 0 112 0 0 1 0 NM_021180 16 45.702628 38 0.296296 ZNF423 23090 broad.mit.edu hg19 16 49669602 49669602 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:49669602C>T ENST00000561648.1 - 4 3514 c.3461G>A c.(3460-3462)cGg>cAg p.R1154Q ZNF423_ENST00000562871.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1094Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1154Q NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1154 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGTGCCTTTCCGGGGCCCACT 0.647 0 73.0 65.0 68.0 16 49669602 2199 4300 6499 SO:0001583 missense AB018303 CCDS32445.1, CCDS61930.1 16q12 2014-01-28 ENSG00000102935 """Zinc fingers, C2H2-type""" 16762 protein-coding gene gene with protein product """OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein""" 604557 9872452, 10660046 Standard NM_001271620 Approved KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19 uc031qwd.1 Q2M1K9 ENST00000561648.1:c.3461G>A 16.37:g.49669602C>T ENSP00000455426:p.Arg1154Gln O94860|Q76N04|Q9NZ13 ENST00000561648.1 37 CCDS32445.1 . . . . . . . . . . C 6.234 0.411350 0.11812 . . ENSG00000102935 ENST00000262383;ENST00000535559 T;T 0.08370 3.1;3.14 5.04 5.04 0.67666 . 0.162594 0.53938 D 0.000047 T 0.04634 0.0126 N 0.08118 0 0.30752 N 0.744979 B 0.21309 0.054 B 0.17433 0.018 T 0.21552 -1.0242 9 . . . -11.3172 12.7995 0.57578 0.0:0.9215:0.0:0.0785 . 1154 Q2M1K9 ZN423_HUMAN Q 1154;1037 ENSP00000262383:R1154Q;ENSP00000442321:R1037Q . R - 2 0 ZNF423 48227103 1.000000 0.71417 1.000000 0.80357 0.929000 0.56500 1.803000 0.38863 2.344000 0.79699 0.561000 0.74099 CGG ZNF423-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000423258.1 47.454293 0 -16 92 0 0 1 0 NM_015069 17 49.240682 38 0.309091 PCDHGA6 0 broad.mit.edu hg19 5 140754748 140754748 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:140754748C>T ENST00000517434.1 + 1 1098 c.1098C>T c.(1096-1098)atC>atT p.I366I PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACAGTAATCGCCCTTTTTC 0.433 0 93.0 95.0 95.0 5 140754748 1916 4136 6052 SO:0001819 synonymous_variant AF152513 CCDS54926.1, CCDS75335.1 5q31 2010-01-26 ENSG00000253731 """Cadherins / Protocadherins : Clustered""" 8704 other protocadherin 606293 10380929 Standard NM_018919 Approved PCDH-GAMMA-A6 Q9Y5G7 ENST00000517434.1:c.1098C>T 5.37:g.140754748C>T A6H8K7|B2RN55|Q9Y5D1 ENST00000517434.1 37 CCDS54926.1 PCDHGA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374743.1 -2.043902 0 -18 63 0 0 1 0 NM_018919 4 8.822103 53 0.070175 COL9A2 1298 broad.mit.edu hg19 1 40776803 40776803 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:40776803G>A ENST00000372748.3 - 12 688 c.592C>T c.(592-594)Cgc>Tgc p.R198C NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 198 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) AGAATCCCGCGTTTGCCCGCA 0.622 0 146.0 123.0 131.0 1 40776803 2203 4300 6503 SO:0001583 missense M95610 CCDS450.1 1p33-p32 2013-01-16 ENSG00000049089 ENSG00000049089 """Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens""" 2218 protein-coding gene gene with protein product 120260 EDM2 8454052, 8528240, 1429648 Standard NM_001852 Approved MED uc001cfh.1 Q14055 OTTHUMG00000005761 ENST00000372748.3:c.592C>T 1.37:g.40776803G>A ENSP00000361834:p.Arg198Cys B2RMP9 ENST00000372748.3 37 CCDS450.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 17.41|17.41 3.382468|3.382468 0.61845|0.61845 .|. .|. ENSG00000049089|ENSG00000049089 ENST00000372748|ENST00000417105 D|. 0.94376|. -3.41|. 5.63|5.63 3.71|3.71 0.42584|0.42584 .|. 0.409517|. 0.26196|. N|. 0.025765|. T|T 0.59183|0.59183 0.2175|0.2175 M|M 0.78801|0.78801 2.425|2.425 0.09310|0.09310 N|N 1|1 D|. 0.59357|. 0.985|. P|. 0.51101|. 0.659|. T|T 0.51092|0.51092 -0.8749|-0.8749 10|5 0.66056|. D|. 0.02|. .|. 11.4791|11.4791 0.50316|0.50316 0.0:0.0:0.6746:0.3254|0.0:0.0:0.6746:0.3254 .|. 198|. Q14055|. CO9A2_HUMAN|. C|M 198|186 ENSP00000361834:R198C|. ENSP00000361834:R198C|. R|T -|- 1|2 0|0 COL9A2|COL9A2 40549390|40549390 0.078000|0.078000 0.21339|0.21339 0.036000|0.036000 0.18154|0.18154 0.150000|0.150000 0.21749|0.21749 1.534000|1.534000 0.36051|0.36051 0.699000|0.699000 0.31761|0.31761 0.558000|0.558000 0.71614|0.71614 CGC|ACG COL9A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000015764.3 23.090744 0 -11 41 0 0 1 0 NM_001852 8 23.947601 18 0.307692 FOXS1 2307 broad.mit.edu hg19 20 30433147 30433147 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:30433147G>A ENST00000375978.3 - 1 273 c.199C>T c.(199-201)Cgc>Tgc p.R67C NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 67 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 AGGTTGTGGCGGATGCTGTTC 0.642 0 85.0 69.0 74.0 20 30433147 2203 4300 6503 SO:0001583 missense AF042831 CCDS13192.1 20q11.1-q11.2 2008-04-10 2008-04-10 2008-04-10 ENSG00000179772 ENSG00000179772 """Forkhead boxes""" 3735 protein-coding gene gene with protein product 602939 """forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)""" FKHL18 9325056, 17062144 Standard NM_004118 Approved FREAC10 uc002wwt.1 O43638 OTTHUMG00000032183 ENST00000375978.3:c.199C>T 20.37:g.30433147G>A ENSP00000365145:p.Arg67Cys Q96D28 ENST00000375978.3 37 CCDS13192.1 . . . . . . . . . . G 19.12 3.765813 0.69878 . . ENSG00000179772 ENST00000375978 D 0.98120 -4.73 4.76 4.76 0.60689 Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1); 0.000000 0.47093 D 0.000245 D 0.99315 0.9760 H 0.99642 4.675 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.98085 1.0406 10 0.87932 D 0 . 11.7085 0.51612 0.0:0.0:0.8232:0.1768 . 67 O43638 FOXS1_HUMAN C 67 ENSP00000365145:R67C ENSP00000365145:R67C R - 1 0 FOXS1 29896808 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 3.058000 0.49939 2.484000 0.83849 0.555000 0.69702 CGC FOXS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078560.2 -0.004776 0 -6 87 0 0 1 0 NM_004118 3 6.875698 35 0.078947 PLA2G6 8398 broad.mit.edu hg19 22 38531030 38531030 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:38531030C>T ENST00000332509.3 - 6 1042 c.859G>A c.(859-861)Gga>Aga p.G287R PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R|PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 287 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) GGGCTGGCTCCGTAACGGGGG 0.662 0 55.0 56.0 56.0 22 38531030 2203 4300 6503 SO:0001583 missense AF064594 CCDS13967.1, CCDS33645.1 22q13.1 2013-01-10 ENSG00000184381 ENSG00000184381 """Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing""" 9039 protein-coding gene gene with protein product """neurodegeneration with brain iron accumulation 2""" 603604 9417066, 16799181, 19029121 Standard NM_001199562 Approved iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2 uc003aux.1 O60733 OTTHUMG00000151246 ENST00000332509.3:c.859G>A 22.37:g.38531030C>T ENSP00000333142:p.Gly287Arg A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671 ENST00000332509.3 37 CCDS13967.1 . . . . . . . . . . C 27.3 4.821662 0.90873 . . ENSG00000184381 ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461 T;T;T 0.59772 0.24;0.24;0.24 5.67 5.67 0.87782 Ankyrin repeat-containing domain (3); 0.154883 0.64402 D 0.000018 T 0.77980 0.4212 M 0.85041 2.73 0.80722 D 1 D;D;D 0.89917 1.0;0.999;1.0 D;P;D 0.70935 0.962;0.884;0.971 T 0.81254 -0.1016 10 0.87932 D 0 -11.6042 15.2807 0.73781 0.0:0.8604:0.1396:0.0 . 252;287;287 B7Z6K3;O60733-2;O60733 .;.;PA2G6_HUMAN R 287;148;287;287;215;287;252 ENSP00000333142:G287R;ENSP00000335149:G287R;ENSP00000386100:G287R ENSP00000333142:G287R G - 1 0 PLA2G6 36860976 0.994000 0.37717 0.985000 0.45067 0.948000 0.59901 4.085000 0.57657 2.667000 0.90743 0.561000 0.74099 GGA PLA2G6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321860.1 31.915636 0 -11 37 0 0 1 0 NM_001004426 11 32.491534 20 0.354839 KIAA0586 9786 broad.mit.edu hg19 14 58932657 58932657 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:58932657G>A ENST00000423743.3 + 16 2290 c.2032G>A c.(2032-2034)Gat>Aat p.D678N KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D775N|KIAA0586_ENST00000261244.5_Missense_Mutation_p.D646N|KIAA0586_ENST00000556134.1_Missense_Mutation_p.D707N NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 646 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACCTCATGGCGATCAGCAATA 0.368 0 166.0 159.0 161.0 14 58932657 1897 4110 6007 SO:0001583 missense AB011158 CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1 14q23.1 2012-12-06 ENSG00000100578 ENSG00000100578 19960 protein-coding gene gene with protein product 610178 16702409 Standard NM_014749 Approved Talpid3 uc010trr.2 Q9BVV6 OTTHUMG00000171141 ENST00000354386.6:c.2323G>A 14.37:g.58932657G>A ENSP00000346359:p.Asp775Asn B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20 ENST00000354386.6 37 CCDS58320.1 . . . . . . . . . . G 20.8 4.045182 0.75846 . . ENSG00000100578 ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216 T;T;T;T 0.48836 0.8;0.8;0.8;0.8 5.37 4.47 0.54385 . 0.973374 0.08476 N 0.940335 T 0.49915 0.1585 L 0.27053 0.805 0.09310 N 0.999998 P;P;P;D;P;P 0.61697 0.907;0.907;0.948;0.99;0.907;0.948 B;B;B;P;B;B 0.51016 0.187;0.187;0.325;0.656;0.187;0.246 T 0.50448 -0.8827 10 0.66056 D 0.02 . 15.4404 0.75178 0.0:0.3258:0.6742:0.0 . 582;582;775;646;707;678 F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20 .;.;.;.;K0586_HUMAN;. N 775;707;678;646;582 ENSP00000346359:D775N;ENSP00000452351:D707N;ENSP00000399427:D678N;ENSP00000261244:D646N ENSP00000261244:D646N D + 1 0 KIAA0586 58002410 0.260000 0.24053 0.071000 0.20095 0.316000 0.28119 2.676000 0.46883 1.225000 0.43566 0.655000 0.94253 GAT KIAA0586-003 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000411987.1 12.925203 0 -10 77 0 0 1 0 NM_014749 9 22.097437 60 0.130435 DGKQ 1609 broad.mit.edu hg19 4 955530 955530 + Missense_Mutation SNP C C T rs143203696 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:955530C>T ENST00000273814.3 - 20 2481 c.2408G>A c.(2407-2409)cGg>cAg p.R803Q NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 803 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CACCTCCTGCCGCTCCACCTG 0.647 0 56.0 61.0 60.0 4 955530 2203 4300 6503 SO:0001583 missense L38707 CCDS3342.1 4p16.3 2008-08-29 2002-08-29 ENSG00000145214 ENSG00000145214 2856 protein-coding gene gene with protein product 601207 """diacylglycerol kinase, theta (110kD)""" DAGK4 8617502, 9099683 Standard NM_001347 Approved DAGK, DAGK7 uc003gbw.4 P52824 OTTHUMG00000088629 ENST00000273814.3:c.2408G>A 4.37:g.955530C>T ENSP00000273814:p.Arg803Gln Q6P3W4 ENST00000273814.3 37 CCDS3342.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 11.97|11.97 1.797748|1.797748 0.31777|0.31777 9.08E-4|9.08E-4 0.0|0.0 ENSG00000145214|ENSG00000145214 ENST00000509465|ENST00000273814 .|T .|0.41400 .|1.0 5.27|5.27 -0.454|-0.454 0.12197|0.12197 .|Diacylglycerol kinase, accessory domain (2); .|0.543849 .|0.21430 .|N .|0.074670 T|T 0.15522|0.15522 0.0374|0.0374 N|N 0.02539|0.02539 -0.55|-0.55 0.20975|0.20975 N|N 0.999811|0.999811 .|B;B .|0.02656 .|0.0;0.0 .|B;B .|0.06405 .|0.002;0.001 T|T 0.19976|0.19976 -1.0289|-1.0289 5|10 .|0.30854 .|T .|0.27 .|. 8.5696|8.5696 0.33561|0.33561 0.0:0.3318:0.0:0.6682|0.0:0.3318:0.0:0.6682 .|. .|803;803 .|E9KL49;P52824 .|.;DGKQ_HUMAN S|Q 737|803 .|ENSP00000273814:R803Q .|ENSP00000273814:R803Q G|R -|- 1|2 0|0 DGKQ|DGKQ 945530|945530 0.005000|0.005000 0.15991|0.15991 0.994000|0.994000 0.49952|0.49952 0.584000|0.584000 0.36387|0.36387 -0.014000|-0.014000 0.12656|0.12656 -0.223000|-0.223000 0.09943|0.09943 -0.471000|-0.471000 0.05019|0.05019 GGC|CGG DGKQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000200888.1 25.765232 0 -5 54 0 0 1 0 9 26.558207 19 0.321429 XKR4 114786 broad.mit.edu hg19 8 56436530 56436530 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:56436530G>A ENST00000327381.6 + 3 1797 c.1697G>A c.(1696-1698)cGg>cAg p.R566Q NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TTCGCAGAGCGGGATGGGTGT 0.552 1 73.0 76.0 75.0 8 56436530 2203 4300 6503 SO:0001583 missense AY534241 CCDS34893.1 8q12.1 2006-01-12 2006-01-12 ENSG00000206579 ENSG00000206579 29394 protein-coding gene gene with protein product """X Kell blood group precursor-related family, member 4""" Standard NM_052898 Approved KIAA1889 uc003xsf.3 Q5GH76 OTTHUMG00000164288 ENST00000327381.6:c.1697G>A 8.37:g.56436530G>A ENSP00000328326:p.Arg566Gln Q96PZ8 ENST00000327381.6 37 CCDS34893.1 . . . . . . . . . . G 19.55 3.849069 0.71603 0.0 1.16E-4 ENSG00000206579 ENST00000327381;ENST00000543752 D 0.84070 -1.8 5.95 5.95 0.96441 . 0.000000 0.85682 D 0.000000 D 0.89986 0.6874 L 0.59436 1.845 0.58432 D 0.999998 D 0.89917 1.0 D 0.79108 0.992 D 0.87919 0.2702 10 0.40728 T 0.16 -3.1323 20.3931 0.98965 0.0:0.0:1.0:0.0 . 566 Q5GH76 XKR4_HUMAN Q 566 ENSP00000328326:R566Q ENSP00000328326:R566Q R + 2 0 XKR4 56599084 1.000000 0.71417 0.998000 0.56505 0.133000 0.20885 9.869000 0.99810 2.824000 0.97209 0.655000 0.94253 CGG XKR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378129.2 0.399209 0 -22 51 0 0 1 0 NM_052898 3 7.011696 34 0.081081 SLC4A2 6522 broad.mit.edu hg19 7 150768837 150768837 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:150768837C>T ENST00000485713.1 + 15 3293 c.2253C>T c.(2251-2253)ggC>ggT p.G751G SLC4A2_ENST00000461735.1_Silent_p.G737G|SLC4A2_ENST00000310317.5_Silent_p.G669G|SLC4A2_ENST00000413384.2_Silent_p.G751G|SLC4A2_ENST00000392826.2_Silent_p.G742G NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 751 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCTCCAGGGCGTGGTCTTCT 0.622 0 82.0 88.0 86.0 7 150768837 2203 4300 6503 SO:0001819 synonymous_variant CCDS5917.1, CCDS56520.1, CCDS56521.1 7q36.1 2013-07-19 2013-07-19 ENSG00000164889 ENSG00000164889 """Solute carriers""" 11028 protein-coding gene gene with protein product """anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2""" 109280 """erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)""" EPB3L1, AE2 8434259 Standard NM_003040 Approved HKB3, BND3L, NBND3 uc003wit.4 P04920 OTTHUMG00000158443 ENST00000461735.1:c.2211C>T 7.37:g.150768837C>T B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3 ENST00000461735.1 37 CCDS56521.1 SLC4A2-005 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000351042.2 27.471236 0 -4 92 0 0 1 0 NM_003040 12 31.304580 42 0.222222 SLC13A1 6561 broad.mit.edu hg19 7 122787322 122787322 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:122787322C>T ENST00000194130.2 - 7 742 c.703G>A c.(703-705)Gtg>Atg p.V235M SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 235 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 TTACGTGTCACGTGGCCCTTC 0.418 0 234.0 179.0 197.0 7 122787322 2203 4300 6503 SO:0001583 missense CCDS5786.1 7q31.32 2013-07-18 2013-07-18 ENSG00000081800 ENSG00000081800 """Solute carriers""" 10916 protein-coding gene gene with protein product 606193 """solute carrier family 13 (sodium/sulphate symporters), member 1""" 11161786 Standard NM_022444 Approved NaSi-1, NAS1 uc003vkm.3 Q9BZW2 OTTHUMG00000157087 ENST00000194130.2:c.703G>A 7.37:g.122787322C>T ENSP00000194130:p.Val235Met Q9H5Z0 ENST00000194130.2 37 CCDS5786.1 . . . . . . . . . . C 0.150 -1.092159 0.01858 . . ENSG00000081800 ENST00000194130 T 0.03386 3.95 5.0 2.45 0.29901 . 0.219788 0.52532 N 0.000078 T 0.00875 0.0029 N 0.00119 -2.075 0.80722 D 1 B;B 0.06786 0.001;0.001 B;B 0.04013 0.001;0.001 T 0.51060 -0.8753 10 0.42905 T 0.14 -27.0989 6.0605 0.19835 0.0:0.0891:0.1627:0.7482 . 235;235 A4D0X1;Q9BZW2 .;S13A1_HUMAN M 235 ENSP00000194130:V235M ENSP00000194130:V235M V - 1 0 SLC13A1 122574558 1.000000 0.71417 1.000000 0.80357 0.564000 0.35744 3.182000 0.50910 0.755000 0.32990 -0.414000 0.06135 GTG SLC13A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347404.1 18.744524 0 -2 64 0 0 1 0 NM_022444 9 23.774717 42 0.176471 TTC8 123016 broad.mit.edu hg19 14 89337996 89337996 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:89337996C>T ENST00000338104.6 + 12 1253 c.1201C>T c.(1201-1203)Cgt>Tgt p.R401C TTC8_ENST00000380656.2_Missense_Mutation_p.R385C|TTC8_ENST00000354441.6_Missense_Mutation_p.R120C|TTC8_ENST00000536576.1_Missense_Mutation_p.R146C|TTC8_ENST00000345383.5_Missense_Mutation_p.R375C|TTC8_ENST00000346301.4_Missense_Mutation_p.R345C|TTC8_ENST00000358622.5_Missense_Mutation_p.R187C Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 411 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CTCATTTGAACGTGCCCTTTC 0.443 0 142.0 130.0 134.0 14 89337996 2203 4300 6503 SO:0001583 missense AK093891 CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1 14q31.3 2013-02-14 ENSG00000165533 """Tetratricopeptide (TTC) repeat domain containing""" 20087 protein-coding gene gene with protein product 608132 14520415, 20451172 Standard NM_144596 Approved BBS8, RP51 uc001xxi.3 Q8TAM2 ENST00000345383.5:c.1123C>T 14.37:g.89337996C>T ENSP00000339486:p.Arg375Cys A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8 ENST00000345383.5 37 CCDS9885.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 24.0|24.0 4.486612|4.486612 0.84854|0.84854 .|. .|. ENSG00000165533|ENSG00000165533 ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000557580 T;T;T;T;T;T;T|. 0.68025|. -0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3|. 5.73|5.73 5.73|5.73 0.89815|0.89815 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|. 0.000000|. 0.85682|. D|. 0.000000|. D|D 0.86493|0.86493 0.5946|0.5946 M|M 0.91140|0.91140 3.18|3.18 0.80722|0.80722 D|D 1|1 D;D;D;D;D|. 0.89917|. 1.0;1.0;1.0;1.0;1.0|. D;D;D;D;D|. 0.91635|. 0.996;0.999;0.998;0.988;0.988|. D|D 0.88431|0.88431 0.3035|0.3035 10|5 0.87932|. D|. 0|. -12.0124|-12.0124 19.8984|19.8984 0.96975|0.96975 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 120;146;411;355;385|. Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|. .;.;TTC8_HUMAN;.;.|. C|M 375;146;345;401;120;385;187|173 ENSP00000339486:R375C;ENSP00000445067:R146C;ENSP00000298324:R345C;ENSP00000337653:R401C;ENSP00000346427:R120C;ENSP00000370031:R385C;ENSP00000351439:R187C|. ENSP00000337653:R401C|. R|T +|+ 1|2 0|0 TTC8|TTC8 88407749|88407749 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.997000|0.997000 0.91878|0.91878 3.560000|3.560000 0.53763|0.53763 2.712000|2.712000 0.92718|0.92718 0.555000|0.555000 0.69702|0.69702 CGT|ACG TTC8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000410861.1 109.483363 0 0 114 0 0 1 0 NM_144596 36 110.118802 52 0.409091 SLC6A5 9152 broad.mit.edu hg19 11 20676288 20676288 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:20676288G>A ENST00000525748.1 + 16 2541 c.2268G>A c.(2266-2268)ccG>ccA p.P756P SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 756 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 CGCCACAGCCGGACTGGGGCC 0.562 0 114.0 111.0 112.0 11 20676288 2203 4300 6503 SO:0001819 synonymous_variant AF085412 CCDS7854.1 11p15.1 2013-07-19 2013-07-19 ENSG00000165970 ENSG00000165970 """Solute carriers""" 11051 protein-coding gene gene with protein product """glycine transporter 2""" 604159 """solute carrier family 6 (neurotransmitter transporter, glycine), member 5""" NET1 9845349 Standard NM_004211 Approved GLYT2 uc001mqd.3 Q9Y345 OTTHUMG00000166024 ENST00000525748.1:c.2268G>A 11.37:g.20676288G>A O95288|Q4VAM7|Q9BX77 ENST00000525748.1 37 CCDS7854.1 SLC6A5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387497.2 76.096332 0 3 71 0 0 1 0 NM_004211 24 76.163140 28 0.461538 GRHL2 79977 broad.mit.edu hg19 8 102570889 102570889 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:102570889G>A ENST00000251808.3 + 4 865 c.527G>A c.(526-528)cGg>cAg p.R176Q GRHL2_ENST00000395927.1_Missense_Mutation_p.R160Q NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 176 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CACTATCCCCGGGGAGATGGG 0.567 0 80.0 73.0 75.0 8 102570889 2203 4300 6503 SO:0001583 missense AK023844 CCDS34931.1 8q22.3 2008-02-05 2005-07-11 2005-07-11 ENSG00000083307 ENSG00000083307 2799 protein-coding gene gene with protein product 608576 """deafness, autosomal dominant 28"", ""transcription factor CP2-like 3""" DFNA28, TFCP2L3 12393799 Standard NM_024915 Approved FLJ13782, BOM uc010mbu.3 Q6ISB3 OTTHUMG00000149915 ENST00000251808.3:c.527G>A 8.37:g.102570889G>A ENSP00000251808:p.Arg176Gln A1L303|Q6NT03|Q9H8B8 ENST00000251808.3 37 CCDS34931.1 . . . . . . . . . . G 12.73 2.026629 0.35797 . . ENSG00000083307 ENST00000251808;ENST00000395927;ENST00000395928 T;T 0.11169 2.8;2.8 5.33 4.45 0.53987 . 0.317710 0.40469 N 0.001100 T 0.21227 0.0511 L 0.41236 1.265 0.47245 D 0.999365 D;P 0.76494 0.999;0.454 D;B 0.72625 0.978;0.029 T 0.03413 -1.1039 10 0.16420 T 0.52 -7.6427 13.8279 0.63361 0.0742:0.0:0.9258:0.0 . 176;176 B4DL28;Q6ISB3 .;GRHL2_HUMAN Q 176;160;176 ENSP00000251808:R176Q;ENSP00000379260:R160Q ENSP00000251808:R176Q R + 2 0 GRHL2 102640065 1.000000 0.71417 0.509000 0.27700 0.377000 0.30045 8.500000 0.90498 1.227000 0.43598 0.637000 0.83480 CGG GRHL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313882.1 35.555583 0 -5 81 0 0 1 0 NM_024915 13 37.666476 34 0.276596 FOXO3 2309 broad.mit.edu hg19 6 108985561 108985561 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:108985561G>A ENST00000406360.1 + 2 1868 c.1525G>A c.(1525-1527)Gtg>Atg p.V509M FOXO3_ENST00000343882.6_Missense_Mutation_p.V509M|FOXO3_ENST00000540898.1_Missense_Mutation_p.V289M NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 509 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) CCGCCGGAACGTGATGCTTCG 0.557 1 19.0 21.0 20.0 6 108985561 2113 4099 6212 SO:0001583 missense AF032886 CCDS5068.1 6q21 2008-09-08 2007-05-02 2007-05-02 ENSG00000118689 ENSG00000118689 """Forkhead boxes""" 3821 protein-coding gene gene with protein product 602681 FKHRL1, FOXO3A 9479491 Standard NM_001455 Approved AF6q21, FOXO2 uc003psm.2 O43524 OTTHUMG00000015327 ENST00000343882.6:c.1525G>A 6.37:g.108985561G>A ENSP00000339527:p.Val509Met B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04 ENST00000343882.6 37 CCDS5068.1 . . . . . . . . . . G 10.05 1.242929 0.22796 . . ENSG00000118689 ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898 D;D;D 0.96522 -4.04;-4.04;-4.04 5.59 5.59 0.84812 . 0.321110 0.33916 N 0.004438 D 0.89462 0.6722 L 0.55990 1.75 0.37317 D 0.909373 P 0.50443 0.935 B 0.36534 0.227 D 0.87932 0.2711 10 0.32370 T 0.25 -12.8009 7.3004 0.26418 0.2012:0.0:0.7988:0.0 . 509 O43524 FOXO3_HUMAN M 509;509;289;289 ENSP00000339527:V509M;ENSP00000385824:V509M;ENSP00000446316:V289M ENSP00000339527:V509M V + 1 0 FOXO3 109092254 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 3.710000 0.54860 2.648000 0.89879 0.563000 0.77884 GTG FOXO3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041722.2 24.667124 0 -6 24 0 0 1 0 9 24.996929 15 0.375000 CACFD1 11094 broad.mit.edu hg19 9 136328663 136328663 + Silent SNP C C T rs113031528 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:136328663C>T ENST00000316948.4 + 2 260 c.180C>T c.(178-180)gcC>gcT p.A60A CACFD1_ENST00000291722.7_Silent_p.A60A|CACFD1_ENST00000540581.1_Silent_p.A60A|CACFD1_ENST00000489519.1_3'UTR|CACFD1_ENST00000542192.1_Silent_p.A60A NM_017586.3 NP_060056.1 Q9UGQ2 FLOWR_HUMAN calcium channel flower domain containing 1 60 integral to membrane ACATTGCGGCCGGCGTGTGGA 0.622 0 136.0 124.0 128.0 9 136328663 2203 4300 6503 SO:0001819 synonymous_variant CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1 9q34 2012-03-06 2012-03-06 2012-03-06 ENSG00000160325 ENSG00000160325 1365 protein-coding gene gene with protein product 613104 """chromosome 9 open reading frame 7""" C9orf7 19737521 Standard NM_001242370 Approved D9S2135, flower uc011mdh.1 Q9UGQ2 OTTHUMG00000020875 ENST00000316948.4:c.180C>T 9.37:g.136328663C>T B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6 ENST00000316948.4 37 CCDS6974.1 CACFD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054915.1 35.356487 0 -23 110 0 0 1 0 NM_017586 16 41.252076 60 0.210526 CLCA1 1179 broad.mit.edu hg19 1 86959980 86959980 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:86959980G>A ENST00000234701.3 + 12 2142 c.1791G>A c.(1789-1791)acG>acA p.T597T CLCA1_ENST00000394711.1_Silent_p.T597T A8K7I4 CLCA1_HUMAN chloride channel accessory 1 597 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CTTCCAAAACGAACAAGGACA 0.517 0 101.0 88.0 92.0 1 86959980 2203 4300 6503 SO:0001819 synonymous_variant CCDS709.1 1p22.3 2012-02-26 2009-01-29 ENSG00000016490 ENSG00000016490 2015 protein-coding gene gene with protein product 603906 """chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1""" 9828122 Standard NM_001285 Approved CaCC, CLCRG1 uc001dlt.3 A8K7I4 OTTHUMG00000010254 ENST00000234701.3:c.1791G>A 1.37:g.86959980G>A B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6 ENST00000234701.3 37 CCDS709.1 CLCA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000028277.1 56.346517 0 -1 44 0 0 1 0 NM_001285 18 56.396704 21 0.461538 NEU2 4759 broad.mit.edu hg19 2 233897559 233897559 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:233897559G>A ENST00000233840.3 + 1 178 c.178G>A c.(178-180)Gac>Aac p.D60N NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 60 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) AGGAGACTACGACGCACCCAC 0.637 0 37.0 33.0 34.0 2 233897559 2203 4300 6503 SO:0001583 missense Y16535 CCDS2501.1 2q37 2008-05-27 ENSG00000115488 ENSG00000115488 7759 protein-coding gene gene with protein product """N-acetyl-alpha-neuraminidase 2""" 605528 10191093, 14613940 Standard NM_005383 Approved SIAL2 uc010zmn.2 Q9Y3R4 OTTHUMG00000133274 ENST00000233840.3:c.178G>A 2.37:g.233897559G>A ENSP00000233840:p.Asp60Asn Q3KNW4|Q6NTB4 ENST00000233840.3 37 CCDS2501.1 . . . . . . . . . . G 6.367 0.435859 0.12104 0.0 1.16E-4 ENSG00000115488 ENST00000233840 D 0.83755 -1.76 5.54 -1.31 0.09230 Neuraminidase (2); 0.804728 0.10850 N 0.627229 T 0.61887 0.2383 N 0.04768 -0.165 0.09310 N 1 B 0.16166 0.016 B 0.06405 0.002 T 0.45026 -0.9289 10 0.14252 T 0.57 -8.1065 10.9659 0.47412 0.5948:0.0:0.4052:0.0 . 60 Q9Y3R4 NEUR2_HUMAN N 60 ENSP00000233840:D60N ENSP00000233840:D60N D + 1 0 NEU2 233605803 0.000000 0.05858 0.000000 0.03702 0.019000 0.09904 -0.450000 0.06803 -0.059000 0.13154 0.591000 0.81541 GAC NEU2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257053.2 8.222010 0 -5 9 0 0 1 0 NM_005383 3 8.443411 6 0.333333 TCEB3CL 728929 broad.mit.edu hg19 18 44549170 44549170 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr18:44549170G>A ENST00000451265.1 - 1 1364 c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 TTCTCTGTGCGGTACGGCTGA 0.572 0 228.0 194.0 205.0 18 44549170 1710 3416 5126 SO:0001583 missense 18q21.1 2007-07-10 ENSG00000275553 31007 protein-coding gene gene with protein product Standard NM_001100817 Approved HsT828 Q3SY89 ENST00000451265.1:c.1129C>T 18.37:g.44549170G>A ENSP00000409932:p.Arg377Cys Q3MI93 ENST00000451265.1 37 CCDS42433.1 . . . . . . . . . . G 13.26 2.184174 0.38609 . . ENSG00000234298 ENST00000451265 T 0.33654 1.4 1.5 0.527 0.17084 . 0.813513 0.10476 N 0.670186 T 0.55625 0.1932 M 0.77486 2.375 0.27479 N 0.952621 D 0.89917 1.0 D 0.74674 0.984 T 0.43734 -0.9373 10 0.87932 D 0 -9.163 6.7137 0.23292 0.0:0.0:0.7186:0.2814 . 377 Q3SY89 EA3L1_HUMAN C 377 ENSP00000409932:R377C ENSP00000409932:R377C R - 1 0 TCEB3CL 42803168 1.000000 0.71417 0.000000 0.03702 0.002000 0.02628 0.919000 0.28692 0.177000 0.19895 0.556000 0.70494 CGC TCEB3CL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451071.1 12.035973 0 -2 354 0 0 1 0 XM_001132059 18 43.600688 173 0.094241 LZTS3 0 broad.mit.edu hg19 20 3145195 3145195 + Missense_Mutation SNP C C T rs144495581 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:3145195C>T ENST00000329152.3 - 3 3324 c.1927G>A c.(1927-1929)Gca>Aca p.A643T LZTS3_ENST00000337576.5_Missense_Mutation_p.A597T|LZTS3_ENST00000360342.3_Missense_Mutation_p.A597T GCACCCCCTGCGGCCCCGCGC 0.647 0 47.0 46.0 46.0 20 3145195 2203 4299 6502 SO:0001583 missense ENST00000329152.3:c.1927G>A 20.37:g.3145195C>T ENSP00000332123:p.Ala643Thr A2A2Q7|D3DVX6|Q8IXX8 ENST00000329152.3 37 CCDS13049.1 . . . . . . . . . . C 7.640 0.680649 0.14907 . . ENSG00000088899 ENST00000329152;ENST00000360342;ENST00000337576 T;T;T 0.30182 1.54;1.54;1.54 4.69 1.46 0.22682 . 0.317648 0.31760 N 0.007114 T 0.10680 0.0261 N 0.08118 0 0.09310 N 1 P;P 0.46656 0.882;0.813 B;B 0.36030 0.216;0.081 T 0.23940 -1.0174 10 0.20519 T 0.43 -13.436 6.5022 0.22176 0.3173:0.5937:0.0:0.0891 . 597;643 O60299-2;O60299 .;PRIP1_HUMAN T 643;597;597 ENSP00000332123:A643T;ENSP00000353496:A597T;ENSP00000338166:A597T ENSP00000332123:A643T A - 1 0 RP5-1187M17.10 3093195 0.036000 0.19791 0.019000 0.16419 0.718000 0.41266 0.167000 0.16602 0.566000 0.29273 0.555000 0.69702 GCA LZTS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077715.2 68.851441 0 7 52 0 0 1 0 22 68.856542 21 0.511628 HRNR 388697 broad.mit.edu hg19 1 152187596 152187596 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:152187596G>A ENST00000368801.2 - 3 6584 c.6509C>T c.(6508-6510)tCg>tTg p.S2170L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2170 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGTGGCCCGAAGACTGACG 0.627 0 122.0 154.0 143.0 1 152187596 2196 4279 6475 SO:0001583 missense AB104446 CCDS30859.1 1q21.3 2013-01-10 ENSG00000197915 ENSG00000197915 """EF-hand domain containing""" 20846 protein-coding gene gene with protein product """filaggrin family member 3""" Standard NM_001009931 Approved S100a18, S100A16, FLG3 uc001ezt.2 Q86YZ3 OTTHUMG00000012243 ENST00000368801.2:c.6509C>T 1.37:g.152187596G>A ENSP00000357791:p.Ser2170Leu Q5DT20|Q5U1F4 ENST00000368801.2 37 CCDS30859.1 . . . . . . . . . . - 11.36 1.615170 0.28712 . . ENSG00000197915 ENST00000368801 T 0.05855 3.38 3.22 3.22 0.36961 . . . . . T 0.07548 0.0190 L 0.55481 1.735 0.09310 N 1 D 0.76494 0.999 P 0.56612 0.802 T 0.12837 -1.0532 9 0.48119 T 0.1 . 12.3341 0.55056 0.0:0.0:1.0:0.0 . 2170 Q86YZ3 HORN_HUMAN L 2170 ENSP00000357791:S2170L ENSP00000357791:S2170L S - 2 0 HRNR 150454220 0.050000 0.20438 0.005000 0.12908 0.031000 0.12232 1.313000 0.33585 1.810000 0.52873 0.650000 0.86243 TCG HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034016.1 -161.497204 0 388 1091 0 0 1 0 XM_373868 22 38.959947 790 0.027094 TNIP2 79155 broad.mit.edu hg19 4 2746454 2746454 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:2746454C>T ENST00000510267.1 - 4 982 c.555G>A c.(553-555)gcG>gcA p.A185A TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000315423.7_Silent_p.A292A|TNIP2_ENST00000505186.1_5'UTR NM_001161527.1 NP_001154999.1 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 292 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCCGCTCCAACGCAGCATCCC 0.612 0 38.0 43.0 41.0 4 2746454 2203 4300 6503 SO:0001819 synonymous_variant BC002740 CCDS3362.1, CCDS54714.1, CCDS75093.1 4p16.3 2008-08-01 ENSG00000168884 ENSG00000168884 19118 protein-coding gene gene with protein product 610669 11390377, 12933576 Standard NM_024309 Approved ABIN-2, MGC4289, KLIP, FLIP1 uc003gfg.2 Q8NFZ5 OTTHUMG00000090267 ENST00000315423.7:c.876G>A 4.37:g.2746454C>T ENST00000315423.7 37 CCDS3362.1 TNIP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206589.5 31.980153 0 -5 75 0 0 1 0 NM_024309 12 34.192826 33 0.266667 CYTH3 9265 broad.mit.edu hg19 7 6205175 6205175 + Splice_Site SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:6205175C>T ENST00000350796.3 - 11 1109 c.e11+1 CYTH3_ENST00000396741.2_Splice_Site NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 GAAGAGCTTACGGGTTTCCGG 0.622 1 80.0 81.0 81.0 7 6205175 2203 4300 6503 SO:0001630 splice_region_variant AJ223957 CCDS5346.1 7p22.1 2014-05-02 2008-08-14 2008-08-14 ENSG00000008256 ENSG00000008256 """Pleckstrin homology (PH) domain containing""" 9504 protein-coding gene gene with protein product 605081 """pleckstrin homology, Sec7 and coiled-coil domains 3""" PSCD3 9072969 Standard NM_004227 Approved GRP1, ARNO3, cytohesin-3 uc003spt.3 O43739 OTTHUMG00000023440 ENST00000350796.3:c.972+1G>A 7.37:g.6205175C>T A4D2N8 ENST00000350796.3 37 CCDS5346.1 . . . . . . . . . . C 27.9 4.874511 0.91664 . . ENSG00000008256 ENST00000350796;ENST00000396741 . . . 5.18 5.18 0.71444 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.2844 0.90110 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . CYTH3 6171700 1.000000 0.71417 0.846000 0.33378 0.952000 0.60782 7.725000 0.84808 2.407000 0.81776 0.561000 0.74099 . CYTH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207396.2 82.348250 0 -8 92 0 0 1 0 NM_004227 26 82.383658 29 0.472727 SLITRK3 22865 broad.mit.edu hg19 3 164906265 164906265 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:164906265G>A ENST00000475390.1 - 2 2797 c.2354C>T c.(2353-2355)cCg>cTg p.P785L SLITRK3_ENST00000241274.3_Missense_Mutation_p.P785L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 785 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 ACCCATTCCCGGTGGTTGTGT 0.552 1 87.0 93.0 91.0 3 164906265 2203 4300 6503 SO:0001583 missense AB020655 CCDS3197.1 3q26.1 2004-07-28 ENSG00000121871 ENSG00000121871 23501 protein-coding gene gene with protein product 609679 10048485, 14557068 Standard NM_014926 Approved KIAA0848 uc003fek.3 O94933 OTTHUMG00000158072 ENST00000475390.1:c.2354C>T 3.37:g.164906265G>A ENSP00000420091:p.Pro785Leu Q1RMY6 ENST00000475390.1 37 CCDS3197.1 . . . . . . . . . . G 10.17 1.275349 0.23307 . . ENSG00000121871 ENST00000475390;ENST00000241274 T;T 0.54279 0.58;0.58 5.44 5.44 0.79542 . 0.215496 0.23543 N 0.047051 T 0.29783 0.0744 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.09552 -1.0669 10 0.21540 T 0.41 -0.9216 10.0662 0.42306 0.0882:0.0:0.9118:0.0 . 785 O94933 SLIK3_HUMAN L 785 ENSP00000420091:P785L;ENSP00000241274:P785L ENSP00000241274:P785L P - 2 0 SLITRK3 166388959 0.618000 0.27051 0.046000 0.18839 0.531000 0.34715 1.995000 0.40767 2.832000 0.97577 0.655000 0.94253 CCG SLITRK3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350126.1 49.594575 0 -15 78 0 0 1 0 NM_014926 16 49.868453 23 0.410256 MED25 81857 broad.mit.edu hg19 19 50334046 50334046 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:50334046G>A ENST00000312865.6 + 9 1056 c.1003G>A c.(1003-1005)Gcc>Acc p.A335T MED25_ENST00000538643.1_Missense_Mutation_p.A122T NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 335 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) ACCCCCTGGCGCCCCCAAGCC 0.706 0 30.0 35.0 33.0 19 50334046 2201 4297 6498 SO:0001583 missense AL136746 CCDS33075.1 19q13.3 2014-09-17 2007-07-30 ENSG00000104973 28845 protein-coding gene gene with protein product 610197 """mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)""" 9110174, 11230166 Standard NM_030973 Approved ARC92, ACID1, TCBAP0758, DKFZp434K0512 uc002ppw.2 Q71SY5 ENST00000312865.6:c.1003G>A 19.37:g.50334046G>A ENSP00000326767:p.Ala335Thr A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34 ENST00000312865.6 37 CCDS33075.1 . . . . . . . . . . G 22.9 4.354663 0.82243 . . ENSG00000104973 ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070 T;T 0.78481 -1.18;-1.18 5.58 4.55 0.56014 Mediator complex, subunit Med25, synapsin 1 (1); 0.391114 0.27486 N 0.019141 T 0.69700 0.3140 N 0.19112 0.55 0.30512 N 0.769333 D;D;P 0.62365 0.991;0.99;0.898 P;P;B 0.52386 0.608;0.697;0.338 T 0.66168 -0.5991 10 0.21540 T 0.41 . 9.7827 0.40658 0.0775:0.1409:0.7817:0.0 . 122;335;335 B9TX30;B5ME50;Q71SY5 .;.;MED25_HUMAN T 335;335;335;335;335;122;70 ENSP00000326767:A335T;ENSP00000437496:A122T ENSP00000326767:A335T A + 1 0 MED25 55025858 1.000000 0.71417 0.945000 0.38365 0.960000 0.62799 3.677000 0.54619 1.364000 0.46038 0.655000 0.94253 GCC MED25-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465316.1 13.243310 0 -10 28 0 0 1 0 NM_030973 6 15.347964 22 0.214286 CUEDC1 404093 broad.mit.edu hg19 17 55950132 55950132 + Missense_Mutation SNP G G A rs150759994 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:55950132G>A ENST00000577830.1 - 5 1089 c.676C>T c.(676-678)Cgc>Tgc p.R226C CUEDC1_ENST00000360238.2_Missense_Mutation_p.R226C|CUEDC1_ENST00000577840.1_Missense_Mutation_p.R89C|CUEDC1_ENST00000407144.2_Missense_Mutation_p.R226C NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 226 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 TGCTTCCAGCGGCTCTCCTGG 0.637 0 80.0 73.0 75.0 17 55950132 2203 4300 6503 SO:0001583 missense AK000746 CCDS11599.1 17q23.2 2004-03-16 ENSG00000180891 31350 protein-coding gene gene with protein product Standard NM_001271875 Approved uc002ive.2 Q9NWM3 ENST00000577830.1:c.676C>T 17.37:g.55950132G>A ENSP00000462717:p.Arg226Cys D3DTZ2|Q9NWD0 ENST00000577830.1 37 CCDS11599.1 . . . . . . . . . . G 24.2 4.507195 0.85282 2.27E-4 1.16E-4 ENSG00000180891 ENST00000407144;ENST00000360238 T;T 0.24908 1.83;1.83 5.46 4.43 0.53597 . 0.102694 0.64402 D 0.000006 T 0.37265 0.0997 L 0.56769 1.78 0.54753 D 0.999983 D 0.71674 0.998 P 0.53146 0.719 T 0.18429 -1.0337 10 0.72032 D 0.01 -0.3714 13.1899 0.59704 0.0:0.0:0.7512:0.2488 . 226 Q9NWM3 CUED1_HUMAN C 226 ENSP00000384712:R226C;ENSP00000353373:R226C ENSP00000353373:R226C R - 1 0 CUEDC1 53305131 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 5.218000 0.65257 2.561000 0.86390 0.655000 0.94253 CGC CUEDC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000443305.1 14.233331 0 0 82 0 0 1 0 NM_017949 9 22.445273 56 0.138462 PSMB11 122706 broad.mit.edu hg19 14 23512169 23512169 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:23512169C>T ENST00000408907.2 + 1 794 c.735C>T c.(733-735)taC>taT p.Y245Y NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 245 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GTGTGCTGTACGTGGAGTTAC 0.597 0 38.0 42.0 40.0 14 23512169 2180 4292 6472 SO:0001819 synonymous_variant CCDS41923.1 14q11.2 2008-01-31 ENSG00000222028 31963 protein-coding gene gene with protein product 611137 17540904 Standard NM_001099780 Approved beta5t uc010ake.1 A5LHX3 ENST00000408907.2:c.735C>T 14.37:g.23512169C>T ENST00000408907.2 37 CCDS41923.1 PSMB11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408294.1 6.717185 0 -3 28 0 0 1 0 NM_001099780 4 9.669009 22 0.153846 ZFHX3 463 broad.mit.edu hg19 16 72993166 72993166 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:72993166G>A ENST00000268489.5 - 2 1551 c.879C>T c.(877-879)taC>taT p.Y293Y ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 293 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACGAACGGACGTACCCAAAGG 0.493 0 96.0 85.0 89.0 16 72993166 2198 4300 6498 SO:0001819 synonymous_variant D10250 CCDS10908.1, CCDS54035.1 16q22.3 2012-03-09 2007-08-09 2007-08-09 ENSG00000140836 ENSG00000140836 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 777 protein-coding gene gene with protein product 104155 """AT-binding transcription factor 1""" ATBF1 1719379, 7592926 Standard NM_006885 Approved ZNF927 uc002fck.3 Q15911 OTTHUMG00000137599 ENST00000268489.5:c.879C>T 16.37:g.72993166G>A D3DWS8|O15101|Q13719 ENST00000268489.5 37 CCDS10908.1 ZFHX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269008.1 96.954730 0 4 87 0 0 1 0 NM_006885 30 97.053643 25 0.545455 TG 7038 broad.mit.edu hg19 8 133920513 133920513 + Silent SNP C C T rs143023529 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr8:133920513C>T ENST00000220616.4 + 18 3970 c.3930C>T c.(3928-3930)taC>taT p.Y1310Y TG_ENST00000377869.1_Silent_p.Y1310Y NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1310 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTGCTGACTACGCGGATTTGC 0.597 0 76.0 69.0 71.0 8 133920513 2203 4300 6503 SO:0001819 synonymous_variant AU141420 CCDS34944.1 8q24 2012-10-02 ENSG00000042832 ENSG00000042832 11764 protein-coding gene gene with protein product 188450 Standard NM_003235 Approved TGN, AITD3 uc003ytw.3 P01266 OTTHUMG00000164649 ENST00000220616.4:c.3930C>T 8.37:g.133920513C>T O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3 ENST00000220616.4 37 CCDS34944.1 TG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379606.1 -2.613572 0 13 67 0 0 1 0 NM_003235 3 6.688579 44 0.063830 GPR4 2828 broad.mit.edu hg19 19 46095082 46095082 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:46095082C>T ENST00000323040.4 - 2 987 c.43G>A c.(43-45)Gtg>Atg p.V15M OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 15 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) AGGTGGTCCACGCGCGAGTCC 0.677 0 49.0 39.0 43.0 19 46095082 2203 4300 6503 SO:0001583 missense BC067536 CCDS12669.1 19q13.3 2012-08-21 ENSG00000177464 """GPCR / Class A : Orphans""" 4497 protein-coding gene gene with protein product 600551 8595909 Standard NM_005282 Approved uc002pcm.3 P46093 ENST00000323040.4:c.43G>A 19.37:g.46095082C>T ENSP00000319744:p.Val15Met A8K3T3|B0M0K1|Q6NWM4 ENST00000323040.4 37 CCDS12669.1 . . . . . . . . . . C 10.61 1.397482 0.25205 . . ENSG00000177464 ENST00000323040 T 0.38077 1.16 5.11 2.98 0.34508 . 0.096661 0.39834 N 0.001244 T 0.20536 0.0494 N 0.08118 0 0.26810 N 0.969017 D 0.65815 0.995 P 0.48627 0.584 T 0.03555 -1.1025 10 0.40728 T 0.16 . 4.8501 0.13533 0.0:0.6326:0.1776:0.1899 . 15 P46093 GPR4_HUMAN M 15 ENSP00000319744:V15M ENSP00000319744:V15M V - 1 0 GPR4 50786922 0.001000 0.12720 0.812000 0.32479 0.076000 0.17211 -0.111000 0.10807 1.141000 0.42275 0.313000 0.20887 GTG GPR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459603.1 11.362866 0 16 63 0 0 1 0 NM_005282 5 13.252805 19 0.208333 ASCC3 10973 broad.mit.edu hg19 6 101075567 101075567 + Missense_Mutation SNP C C T rs142364575 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:101075567C>T ENST00000369162.2 - 29 4885 c.4541G>A c.(4540-4542)cGa>cAa p.R1514Q NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1514 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TACTGATGGTCGGAAGTTAAA 0.368 0 84.0 79.0 81.0 6 101075567 2203 4300 6503 SO:0001583 missense AJ223948 CCDS5046.1, CCDS5047.1, CCDS75497.1 6q16 2008-02-05 2004-07-28 ENSG00000112249 ENSG00000112249 18697 protein-coding gene gene with protein product """RNA helicase family""" 614217 """helicase, ATP binding 1""" HELIC1 10218103 Standard NM_006828 Approved RNAH, ASC1p200, dJ121G13.4, dJ467N11.1 uc003pqk.3 Q8N3C0 OTTHUMG00000015279 ENST00000369162.2:c.4541G>A 6.37:g.101075567C>T ENSP00000358159:p.Arg1514Gln E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0 ENST00000369162.2 37 CCDS5046.1 . . . . . . . . . . C 29.2 4.983016 0.93044 6.81E-4 0.0 ENSG00000112249 ENST00000369162 D 0.91295 -2.82 5.7 5.7 0.88788 DEAD-like helicase (1); 0.000000 0.85682 D 0.000000 D 0.93946 0.8062 M 0.76170 2.325 0.80722 D 1 D 0.76494 0.999 P 0.61874 0.895 D 0.92596 0.6087 10 0.42905 T 0.14 . 19.8206 0.96591 0.0:1.0:0.0:0.0 . 1514 Q8N3C0 HELC1_HUMAN Q 1514 ENSP00000358159:R1514Q ENSP00000358159:R1514Q R - 2 0 ASCC3 101182288 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 7.818000 0.86416 2.689000 0.91719 0.561000 0.74099 CGA ASCC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000041632.2 22.791116 0 12 39 0 0 1 0 NM_006828 8 23.510818 17 0.320000 AHI1 54806 broad.mit.edu hg19 6 135778798 135778798 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:135778798G>A ENST00000367800.4 - 7 1201 c.985C>T c.(985-987)Cga>Tga p.R329* AHI1_ENST00000327035.6_Nonsense_Mutation_p.R329*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.R329* NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 329 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GGGCTATCTCGGCTTGTTATT 0.358 0 169.0 162.0 164.0 6 135778798 1913 4114 6027 SO:0001587 stop_gained AJ459824 CCDS47483.1, CCDS47484.1 6q23.2 2013-01-10 2005-11-29 ENSG00000135541 ENSG00000135541 """WD repeat domain containing""" 21575 protein-coding gene gene with protein product """Jouberin""" 608894 """Abelson helper integration site""" 15060101, 16240161 Standard NM_017651 Approved FLJ20069, ORF1, JBTS3 uc003qgj.3 Q8N157 OTTHUMG00000015631 ENST00000367800.4:c.985C>T 6.37:g.135778798G>A ENSP00000356774:p.Arg329* E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2 ENST00000367800.4 37 CCDS47483.1 . . . . . . . . . . G 38 6.781126 0.97833 . . ENSG00000135541 ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801 . . . 5.5 4.6 0.57074 . 1.206670 0.05757 N 0.604317 . . . . . . 0.39994 D 0.975072 . . . . . . . . . . 0.16420 T 0.52 -0.1692 5.6965 0.17859 0.1194:0.0:0.6911:0.1894 . . . . X 329 . ENSP00000265602:R329X R - 1 2 AHI1 135820491 0.883000 0.30277 0.897000 0.35233 0.430000 0.31655 1.508000 0.35769 2.586000 0.87340 0.460000 0.39030 CGA AHI1-008 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391948.1 123.443582 0 14 91 0 0 1 0 NM_017651 38 123.609082 46 0.452381 HLCS 3141 broad.mit.edu hg19 21 38137355 38137355 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr21:38137355G>A ENST00000399120.1 - 9 2868 c.1638C>T c.(1636-1638)tcC>tcT p.S546S HLCS_ENST00000336648.4_Silent_p.S546S NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 546 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) CGACAGCCACGGACATCAGAT 0.532 0 151.0 123.0 132.0 21 38137355 2203 4300 6503 SO:0001819 synonymous_variant CCDS13647.1 21q22.1 2012-07-13 2010-04-30 ENSG00000159267 ENSG00000159267 4976 protein-coding gene gene with protein product 609018 """holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)""" 7842009 Standard NM_000411 Approved HCS uc021wjb.1 P50747 OTTHUMG00000086636 ENST00000399120.1:c.1638C>T 21.37:g.38137355G>A B2RAH1|D3DSG6|Q99451 ENST00000399120.1 37 CCDS13647.1 HLCS-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000194687.2 51.895509 0 0 62 0 0 1 0 16 52.101765 22 0.421053 CFP 5199 broad.mit.edu hg19 X 47485874 47485874 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:47485874G>A ENST00000247153.3 - 8 1226 c.985C>T c.(985-987)Cga>Tga p.R329* CFP_ENST00000396992.3_Nonsense_Mutation_p.R329*|CFP_ENST00000377005.2_Nonsense_Mutation_p.R329* NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 329 TSP type-1 5. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 ATGTTCCGTCGGATACAGGGG 0.612 0 51.0 41.0 45.0 X 47485874 2203 4300 6503 SO:0001587 stop_gained M83652 CCDS14282.1 Xp11.4 2014-09-17 2006-03-02 2006-03-02 ENSG00000126759 ENSG00000126759 """Complement system""" 8864 protein-coding gene gene with protein product 300383 """properdin P factor, complement""" PFC 1783405 Standard NM_001145252 Approved uc004dih.3 P27918 OTTHUMG00000021451 ENST00000396992.3:c.985C>T X.37:g.47485874G>A ENSP00000380189:p.Arg329* O15134|O15135|O15136|O75826 ENST00000396992.3 37 CCDS14282.1 . . . . . . . . . . G 19.91 3.914217 0.72983 . . ENSG00000126759 ENST00000396992;ENST00000247153;ENST00000377005 . . . 5.24 5.24 0.73138 . 0.279906 0.35708 N 0.003022 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 13.4259 0.61026 0.0:0.0:1.0:0.0 . . . . X 329 . ENSP00000247153:R329X R - 1 2 CFP 47370818 0.962000 0.33011 0.230000 0.23976 0.015000 0.08874 3.938000 0.56583 2.324000 0.78689 0.468000 0.43344 CGA CFP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056435.2 21.981094 0 -16 36 0 0 1 0 NM_002621 8 22.246494 13 0.380952 LYST 1130 broad.mit.edu hg19 1 235827917 235827917 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:235827917G>A ENST00000389794.3 - 51 11217 c.11043C>T c.(11041-11043)ggC>ggT p.G3681G LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.G3681G Q99698 LYST_HUMAN lysosomal trafficking regulator 3681 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CACTGCCTCCGCCAGCTAAAA 0.567 0 63.0 56.0 58.0 1 235827917 2203 4300 6503 SO:0001819 synonymous_variant U70064 CCDS31062.1 1q42.1-q42.2 2014-09-17 2004-12-09 2004-12-10 ENSG00000143669 ENSG00000143669 """WD repeat domain containing""" 1968 protein-coding gene gene with protein product 606897 """Chediak-Higashi syndrome 1""" CHS1 8717042, 8896560 Standard NM_000081 Approved CHS uc001hxj.3 Q99698 OTTHUMG00000040527 ENST00000389794.3:c.11043C>T 1.37:g.235827917G>A O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133 ENST00000389794.3 37 CCDS31062.1 LYST-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097533.5 21.253993 0 -1 49 0 0 1 0 9 23.845282 30 0.230769 ADRBK2 157 broad.mit.edu hg19 22 26086189 26086189 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:26086189G>A ENST00000324198.6 + 12 1183 c.991G>A c.(991-993)Gca>Aca p.A331T NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 ACATGGACACGCAAGAATATC 0.413 1 126.0 115.0 119.0 22 26086189 2203 4300 6503 SO:0001583 missense X69117 CCDS13832.1 22q11 2013-01-10 ENSG00000100077 ENSG00000100077 """Pleckstrin homology (PH) domain containing""" 290 protein-coding gene gene with protein product 109636 7695743 Standard NM_005160 Approved GRK3, BARK2 uc003abx.4 P35626 OTTHUMG00000150280 ENST00000324198.6:c.991G>A 22.37:g.26086189G>A ENSP00000317578:p.Ala331Thr Q9UGW9 ENST00000324198.6 37 CCDS13832.1 . . . . . . . . . . G 12.92 2.082989 0.36758 . . ENSG00000100077 ENST00000324198;ENST00000545323 T 0.26223 1.75 4.49 4.49 0.54785 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.066369 0.64402 D 0.000012 T 0.26774 0.0655 L 0.42529 1.33 0.33464 D 0.585318 B;B 0.21381 0.012;0.055 B;B 0.26202 0.01;0.067 T 0.36163 -0.9759 10 0.56958 D 0.05 -17.4726 16.7419 0.85461 0.0:0.0:1.0:0.0 . 331;331 A8K869;P35626 .;ARBK2_HUMAN T 331 ENSP00000317578:A331T ENSP00000317578:A331T A + 1 0 ADRBK2 24416189 1.000000 0.71417 0.169000 0.22859 0.058000 0.15608 9.003000 0.93577 2.485000 0.83878 0.655000 0.94253 GCA ADRBK2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000317296.4 -1.106898 0 -22 96 0 0 1 0 NM_005160 6 14.245079 76 0.073171 WNT2 7472 broad.mit.edu hg19 7 116937892 116937892 + Silent SNP G G A rs138318436 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:116937892G>A ENST00000265441.3 - 4 926 c.627C>T c.(625-627)caC>caT p.H209H NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 209 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CGCTCACCCCGTGGCACTTGC 0.547 0 102.0 97.0 98.0 7 116937892 2203 4300 6503 SO:0001819 synonymous_variant X07876 CCDS5771.1 7q31 2013-02-28 ENSG00000105989 ENSG00000105989 """Wingless-type MMTV integration sites"", ""Endogenous ligands""" 12780 protein-coding gene gene with protein product """secreted growth factor""" 147870 INT1L1 2971536 Standard NM_003391 Approved IRP uc003viz.3 P09544 OTTHUMG00000023428 ENST00000265441.3:c.627C>T 7.37:g.116937892G>A A4D0V1|Q75N05|Q9UDP9 ENST00000265441.3 37 CCDS5771.1 2 9.157509157509158E-4 1 0.0020325203252032522 1 0.0027624309392265192 0 0.0 0 0.0 G 12.35 1.913113 0.33815 0.001362 0.0 ENSG00000105989 ENST00000491214 T 0.64438 -0.1 5.58 -7.11 0.01542 . . . . . T 0.71953 0.3401 . . . 0.80722 D 1 . . . . . . T 0.79172 -0.1913 6 0.87932 D 0 . 17.7651 0.88475 0.7061:0.0:0.2939:0.0 . . . . W 117 ENSP00000419466:R117W ENSP00000419466:R117W R - 1 2 WNT2 116725128 0.216000 0.23585 0.403000 0.26384 0.476000 0.33039 -0.256000 0.08757 -1.680000 0.01450 -1.134000 0.01955 CGG WNT2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000059749.3 17.669577 0 -3 131 0 0 1 0 NM_003391 11 28.076733 70 0.135802 NOTUM 147111 broad.mit.edu hg19 17 79914795 79914795 + Missense_Mutation SNP G G A rs138384810 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr17:79914795G>A ENST00000409678.3 - 7 1234 c.851C>T c.(850-852)aCg>aTg p.T284M NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 284 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGGCGCGCACGTGATCGTGTC 0.672 0 86.0 64.0 71.0 17 79914795 2203 4300 6503 SO:0001583 missense BC060882 CCDS32771.2 17q25.3 2008-02-05 ENSG00000185269 ENSG00000185269 27106 protein-coding gene gene with protein product 609847 Standard NM_178493 Approved uc010wvg.2 Q6P988 OTTHUMG00000154416 ENST00000409678.3:c.851C>T 17.37:g.79914795G>A ENSP00000387310:p.Thr284Met Q8N410|Q8NI82 ENST00000409678.3 37 CCDS32771.2 2 9.157509157509158E-4 2 0.0040650406504065045 0 0.0 0 0.0 0 0.0 G 12.06 1.824093 0.32237 0.0 2.33E-4 ENSG00000185269 ENST00000409678;ENST00000425009 . . . 4.61 3.6 0.41247 . 0.244696 0.47455 D 0.000230 T 0.56411 0.1983 L 0.53249 1.67 0.35967 D 0.835019 D 0.56521 0.976 P 0.51055 0.657 T 0.65249 -0.6214 9 0.41790 T 0.15 . 13.4264 0.61028 0.0:0.0:0.8362:0.1638 . 284 Q6P988 NOTUM_HUMAN M 284 . ENSP00000387310:T284M T - 2 0 NOTUM 77508085 1.000000 0.71417 0.300000 0.25030 0.029000 0.11900 3.657000 0.54474 0.841000 0.35020 0.491000 0.48974 ACG NOTUM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335123.2 3.308357 0 1 38 0 0 1 0 NM_178493 3 6.849380 22 0.120000 GRIA1 0 broad.mit.edu hg19 5 153078528 153078528 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:153078528C>T ENST00000285900.5 + 10 1690 c.1347C>T c.(1345-1347)caC>caT p.H449H GRIA1_ENST00000340592.5_Silent_p.H449H|GRIA1_ENST00000448073.4_Silent_p.H459H|GRIA1_ENST00000518783.1_Silent_p.H459H|GRIA1_ENST00000521843.2_Silent_p.H380H|GRIA1_ENST00000518142.1_Silent_p.H369H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 449 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) TTGCCAAGCACGTGGGCTACT 0.537 0 110.0 98.0 102.0 5 153078528 2203 4300 6503 SO:0001819 synonymous_variant CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1 5q33 2012-08-29 ENSG00000155511 ENSG00000155511 """Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors""" 4571 protein-coding gene gene with protein product 138248 GLUR1 1652753, 1319477 Standard NM_000827 Approved GluA1, GLURA uc011dcy.2 P42261 OTTHUMG00000130148 ENST00000518783.1:c.1377C>T 5.37:g.153078528C>T B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6 ENST00000518783.1 37 CCDS58987.1 GRIA1-007 KNOWN basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000373902.3 -4.918834 0 -16 43 0 0 1 0 3 6.853271 53 0.053571 CACNA1C 775 broad.mit.edu hg19 12 2719791 2719791 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:2719791G>A ENST00000399655.1 + 28 3908 c.3643G>A c.(3643-3645)Gtg>Atg p.V1215M CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1235M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1240M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1235M NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1235 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) AGTGTGGTACGTGGTCAACTC 0.592 0 119.0 126.0 124.0 12 2719791 2198 4299 6497 SO:0001583 missense AF070589 CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1 12p13.3 2014-09-17 ENSG00000151067 ENSG00000151067 """Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels""" 1390 protein-coding gene gene with protein product 114205 CCHL1A1, CACNL1A1 1650913, 16382099 Standard NM_001129832 Approved Cav1.2, CACH2, CACN2, TS, LQT8 uc001qjy.3 Q13936 OTTHUMG00000150243 ENST00000347598.4:c.3703G>A 12.37:g.2719791G>A ENSP00000266376:p.Val1235Met B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875 ENST00000347598.4 37 CCDS44788.1 . . . . . . . . . . G 28.2 4.902190 0.92035 . . ENSG00000151067 ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367 D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.96619 -3.99;-3.99;-4.01;-4.01;-4.0;-4.02;-4.01;-3.91;-3.95;-4.0;-3.94;-3.93;-3.99;-4.04;-3.91;-3.84;-4.05;-4.04;-4.0;-4.02;-3.96;-4.02;-4.07 5.06 5.06 0.68205 . 0.000000 0.85682 D 0.000000 D 0.97958 0.9328 M 0.73598 2.24 0.80722 D 1 D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D 0.89917 1.0;0.984;0.993;1.0;1.0;0.984;1.0;0.996;0.971;1.0;1.0;0.972;1.0;1.0;1.0;1.0;0.99;1.0;0.994;1.0;1.0;1.0;1.0;0.999;0.984 D;P;P;D;D;P;D;P;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;P 0.91635 0.997;0.737;0.759;0.997;0.998;0.737;0.999;0.576;0.576;0.999;0.998;0.782;0.999;0.994;0.997;0.994;0.73;0.999;0.814;0.998;0.999;0.999;0.998;0.991;0.737 D 0.98567 1.0644 10 0.62326 D 0.03 . 18.7859 0.91954 0.0:0.0:1.0:0.0 . 1215;1212;1235;1215;1215;1215;1215;1215;1215;1235;1215;1186;1235;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215 Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12 .;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;. M 1240;1215;1215;1215;1215;1215;1215;1215;1215;1215;1235;1235;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1056 ENSP00000336982:V1240M;ENSP00000382563:V1215M;ENSP00000437936:V1215M;ENSP00000382552:V1215M;ENSP00000382547:V1215M;ENSP00000382506:V1215M;ENSP00000382530:V1215M;ENSP00000382546:V1215M;ENSP00000382500:V1215M;ENSP00000382549:V1215M;ENSP00000266376:V1235M;ENSP00000382515:V1235M;ENSP00000382510:V1215M;ENSP00000341092:V1215M;ENSP00000382537:V1215M;ENSP00000329877:V1215M;ENSP00000382557:V1215M;ENSP00000385724:V1215M;ENSP00000382512:V1215M;ENSP00000382542:V1215M;ENSP00000382526:V1215M;ENSP00000385896:V1215M;ENSP00000382504:V1215M ENSP00000323129:V1056M V + 1 0 CACNA1C 2590052 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.932000 0.87634 2.508000 0.84585 0.655000 0.94253 GTG CACNA1C-017 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000317035.1 11.125676 0 -19 50 0 0 1 0 NM_000719 6 15.366337 32 0.157895 GPR83 10888 broad.mit.edu hg19 11 94113805 94113805 + Missense_Mutation SNP C C T rs139287789 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:94113805C>T ENST00000243673.2 - 4 953 c.782G>A c.(781-783)cGt>cAt p.R261H GPR83_ENST00000539203.2_Missense_Mutation_p.R219H NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 261 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTTGGCCACACGAGCGTAGGC 0.527 0 72.0 64.0 67.0 11 94113805 2201 4298 6499 SO:0001583 missense AF236081 CCDS8297.1 11q21 2012-08-21 2003-07-30 2003-08-01 ENSG00000123901 ENSG00000123901 """GPCR / Class A : Orphans""" 4523 protein-coding gene gene with protein product 605569 """G protein-coupled receptor 72""" GPR72 10760605, 11060465 Standard NM_016540 Approved uc001pet.2 Q9NYM4 OTTHUMG00000167779 ENST00000539203.2:c.656G>A 11.37:g.94113805C>T ENSP00000441550:p.Arg219His B0M0K5|Q6NWR4|Q9P1Y8 ENST00000539203.2 37 . . . . . . . . . . C 9.499 1.102782 0.20632 0.0 1.16E-4 ENSG00000123901 ENST00000243673;ENST00000539203 T;T 0.39056 1.1;1.1 5.41 4.44 0.53790 GPCR, rhodopsin-like superfamily (1); 0.258283 0.36703 N 0.002441 T 0.27524 0.0676 L 0.33093 0.98 0.23411 N 0.997737 B 0.18461 0.028 B 0.15870 0.014 T 0.09930 -1.0652 10 0.15499 T 0.54 . 8.617 0.33838 0.1509:0.586:0.2631:0.0 . 261 Q9NYM4 GPR83_HUMAN H 261;219 ENSP00000243673:R261H;ENSP00000441550:R219H ENSP00000243673:R261H R - 2 0 GPR83 93753453 0.995000 0.38212 0.363000 0.25875 0.982000 0.71751 2.604000 0.46274 2.535000 0.85469 0.655000 0.94253 CGT GPR83-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding protein_coding OTTHUMT00000396233.2 3.809394 0 1 26 0 0 1 0 NM_016540 3 6.627531 19 0.136364 CYP27B1 1594 broad.mit.edu hg19 12 58157521 58157521 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:58157521C>T ENST00000228606.4 - 8 1495 c.1286G>A c.(1285-1287)cGt>cAt p.R429H NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 429 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GCGAGCTGGACGAAAAGAATT 0.567 0 62.0 68.0 66.0 12 58157521 2203 4300 6503 SO:0001583 missense AB006987 CCDS8954.1 12q14.1 2013-11-13 2003-01-14 ENSG00000111012 ENSG00000111012 """Cytochrome P450s""" 2606 protein-coding gene gene with protein product """VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase""" 609506 """cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1""" VDD1, PDDR 9295274, 9344864 Standard NM_000785 Approved CYP1, P450c1 uc001spz.1 O15528 OTTHUMG00000170457 ENST00000228606.4:c.1286G>A 12.37:g.58157521C>T ENSP00000228606:p.Arg429His B2RC61|Q548T3 ENST00000228606.4 37 CCDS8954.1 . . . . . . . . . . C 9.747 1.166448 0.21621 . . ENSG00000111012 ENST00000228606 T 0.70045 -0.45 5.23 -0.551 0.11822 . 0.825490 0.11253 N 0.583388 T 0.54598 0.1868 L 0.45137 1.4 0.21553 N 0.999648 B 0.22146 0.065 B 0.24848 0.056 T 0.40346 -0.9568 10 0.15066 T 0.55 . 11.1924 0.48693 0.0:0.4814:0.0:0.5186 . 429 O15528 CP27B_HUMAN H 429 ENSP00000228606:R429H ENSP00000228606:R429H R - 2 0 CYP27B1 56443788 0.001000 0.12720 0.794000 0.32065 0.882000 0.50991 -0.098000 0.11024 -0.239000 0.09710 -1.598000 0.00824 CGT CYP27B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000409248.1 -2.008182 0 11 76 0 0 1 0 NM_000785 3 6.478019 41 0.068182 PARD3 56288 broad.mit.edu hg19 10 34648125 34648125 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:34648125G>A ENST00000374789.3 - 14 2342 c.2017C>T c.(2017-2019)Cga>Tga p.R673* PARD3_ENST00000374768.1_Nonsense_Mutation_p.R111*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R616*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R660*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.R673*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.R673*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.R390*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R673*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R673* NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 673 PDZ 3. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ATCATTCCTCGTTTATTGCCT 0.378 0 220.0 202.0 208.0 10 34648125 2203 4300 6503 SO:0001587 stop_gained AF252293 CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1 10p11.22 2014-06-13 2013-08-28 ENSG00000148498 ENSG00000148498 16051 protein-coding gene gene with protein product """atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118""" 606745 """par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)""" 10934474 Standard NM_001184790 Approved PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118 uc010qej.2 Q8TEW0 OTTHUMG00000017948 ENST00000374789.3:c.2017C>T 10.37:g.34648125G>A ENSP00000363921:p.Arg673* F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6 ENST00000374789.3 37 CCDS7178.1 . . . . . . . . . . G 42 9.710949 0.99245 . . ENSG00000148498 ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768 . . . 5.74 4.81 0.61882 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 13.8356 0.63408 0.0:0.0:0.725:0.275 . . . . X 660;616;673;673;673;616;660;616;660;673;673;390;111 . ENSP00000341844:R673X R - 1 2 PARD3 34688131 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 3.847000 0.55895 2.719000 0.93026 0.655000 0.94253 CGA PARD3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047527.1 83.945150 0 -45 155 0 0 1 0 NM_019619 29 86.470095 61 0.322222 FAM127A 8933 broad.mit.edu hg19 X 134166518 134166518 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:134166518C>T ENST00000257013.7 + 1 186 c.105C>T c.(103-105)ggC>ggT p.G35G FAM127A_ENST00000464369.1_3'UTR NM_001078171.1 NP_001071639.1 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 35 endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) CGTTTGACGGCGATACCGACC 0.622 0 106.0 108.0 107.0 X 134166518 2163 4233 6396 SO:0001819 synonymous_variant Y13374 CCDS43997.1 Xq26 2014-05-16 2006-11-16 2006-11-16 ENSG00000134590 ENSG00000134590 2569 protein-coding gene gene with protein product 300213 """CAAX box 1""" CXX1 9403077, 15716091, 16093683 Standard NM_001078171 Approved Mart8, Mar8, MAR8C uc004eyd.3 A6ZKI3 OTTHUMG00000022465 ENST00000257013.7:c.105C>T X.37:g.134166518C>T Q6IBF1 ENST00000257013.7 37 CCDS43997.1 FAM127A-002 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058391.2 22.822118 0 -10 126 0 0 1 0 NM_001078171 13 31.491557 67 0.162500 MYO7A 4647 broad.mit.edu hg19 11 76890115 76890115 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:76890115C>T ENST00000409709.3 + 20 2579 c.2307C>T c.(2305-2307)aaC>aaT p.N769N MYO7A_ENST00000409619.2_Silent_p.N758N|MYO7A_ENST00000409893.1_Silent_p.N769N|MYO7A_ENST00000458637.2_Silent_p.N769N NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 769 IQ 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGCTGAAGAACGCTGCCACAC 0.587 0 36.0 41.0 39.0 11 76890115 2127 4225 6352 SO:0001819 synonymous_variant U39226 CCDS53683.1, CCDS53684.1, CCDS53685.1 11q13.5 2013-01-08 2005-09-12 ENSG00000137474 ENSG00000137474 """A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII""" 7606 protein-coding gene gene with protein product 276903 """myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))""" USH1B, DFNB2, DFNA11 8884266 Standard NM_000260 Approved NSRD2 uc001oyb.2 Q13402 OTTHUMG00000152822 ENST00000458637.2:c.2307C>T 11.37:g.76890115C>T B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822 ENST00000458637.2 37 CCDS53684.1 MYO7A-002 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000328134.2 16.476987 0 -3 15 0 0 1 0 NM_000260 5 16.586818 3 0.625000 MAOB 4129 broad.mit.edu hg19 X 43702951 43702951 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:43702951G>A ENST00000378069.4 - 2 253 c.106C>T c.(106-108)Cgg>Tgg p.R36W MAOB_ENST00000536181.1_Missense_Mutation_p.R20W|MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Missense_Mutation_p.R20W NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 36 Arg/Lys-rich (basic). xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 ACACGGTCCCGGGCTTCCAGA 0.483 0 91.0 76.0 81.0 X 43702951 2203 4300 6503 SO:0001583 missense CCDS14261.1 Xp11.4-p11.3 2008-02-05 ENSG00000069535 ENSG00000069535 6834 protein-coding gene gene with protein product 309860 Standard NM_000898 Approved uc004dfz.4 P27338 OTTHUMG00000021388 ENST00000378069.4:c.106C>T X.37:g.43702951G>A ENSP00000367309:p.Arg36Trp B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2 ENST00000378069.4 37 CCDS14261.1 . . . . . . . . . . G 21.2 4.105717 0.77096 . . ENSG00000069535 ENST00000378069;ENST00000536181;ENST00000538942 D;D;D 0.94828 -3.53;-3.53;-3.53 5.54 4.65 0.58169 Amine oxidase (1); 0.164390 0.53938 D 0.000057 D 0.97717 0.9251 H 0.96080 3.765 0.54753 D 0.999986 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.998;0.999;0.999 D 0.97717 1.0194 10 0.87932 D 0 -17.0957 7.9123 0.29798 0.0801:0.0:0.6339:0.286 . 20;36;36 B7Z5H3;Q8TBI1;P27338 .;.;AOFB_HUMAN W 36;20;20 ENSP00000367309:R36W;ENSP00000441613:R20W;ENSP00000442240:R20W ENSP00000367309:R36W R - 1 2 MAOB 43587895 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 2.899000 0.48679 2.318000 0.78349 0.600000 0.82982 CGG MAOB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056303.1 31.980307 0 -12 68 0 0 1 0 NM_000898 12 35.061463 38 0.240000 ANGPT4 51378 broad.mit.edu hg19 20 860425 860425 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:860425C>T ENST00000381922.3 - 6 1120 c.1018G>A c.(1018-1020)Gtg>Atg p.V340M ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 340 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TGAAAATTCACGGTGCCATTC 0.617 0 82.0 75.0 78.0 20 860425 2203 4300 6503 SO:0001583 missense AF074332 CCDS13009.1 20p13 2013-02-06 ENSG00000101280 ENSG00000101280 """Fibrinogen C domain containing""" 487 protein-coding gene gene with protein product 603705 10051567, 10218486 Standard NM_015985 Approved uc002wei.3 Q9Y264 OTTHUMG00000031652 ENST00000381922.3:c.1018G>A 20.37:g.860425C>T ENSP00000371347:p.Val340Met B4E3J9|Q5TFF4|Q9H4Z4 ENST00000381922.3 37 CCDS13009.1 . . . . . . . . . . C 9.573 1.121658 0.20877 . . ENSG00000101280 ENST00000381922;ENST00000546022 T;T 0.35236 1.82;1.32 5.44 2.45 0.29901 Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1); 0.355854 0.25458 N 0.030524 T 0.49372 0.1553 H 0.97707 4.06 0.09310 N 0.999996 D;P 0.55385 0.971;0.945 B;B 0.41860 0.368;0.131 T 0.57957 -0.7721 10 0.87932 D 0 . 5.0409 0.14458 0.1203:0.6288:0.1165:0.1344 . 340;340 B4E3J9;Q9Y264 .;ANGP4_HUMAN M 340 ENSP00000371347:V340M;ENSP00000439605:V340M ENSP00000371347:V340M V - 1 0 ANGPT4 808425 0.123000 0.22298 0.001000 0.08648 0.205000 0.24178 0.891000 0.28309 0.411000 0.25702 0.655000 0.94253 GTG ANGPT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077493.1 15.505245 0 11 66 0 0 1 0 NM_015985 7 18.233221 27 0.205882 CLP1 10978 broad.mit.edu hg19 11 57428246 57428246 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:57428246C>T ENST00000533682.1 + 3 1341 c.616C>T c.(616-618)Cgt>Tgt p.R206C CLP1_ENST00000302731.4_Missense_Mutation_p.R142C|CLP1_ENST00000529430.1_Missense_Mutation_p.R217C|CLP1_ENST00000525602.1_Missense_Mutation_p.R206C Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 206 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 GATTACATCTCGTTTAGCAGA 0.438 0 101.0 97.0 99.0 11 57428246 2201 4296 6497 SO:0001583 missense BC000446 CCDS7964.1, CCDS44600.1 11q12.1 2012-10-02 2012-10-02 ENSG00000172409 ENSG00000172409 16999 protein-coding gene gene with protein product """ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase""" 608757 """CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)""" 8896421, 11060040 Standard NM_006831 Approved HEAB, hClp1 uc001nkw.3 Q92989 OTTHUMG00000167146 ENST00000302731.4:c.424C>T 11.37:g.57428246C>T ENSP00000304704:p.Arg142Cys Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7 ENST00000302731.4 37 CCDS44600.1 . . . . . . . . . . c 13.52 2.262061 0.39995 . . ENSG00000172409 ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731 T;T;T;T 0.49139 0.79;0.79;0.79;0.97 6.05 5.14 0.70334 . 0.092787 0.85682 D 0.000000 T 0.43809 0.1264 L 0.46157 1.445 0.80722 D 1 B;B 0.13145 0.005;0.007 B;B 0.15484 0.001;0.013 T 0.32268 -0.9913 10 0.51188 T 0.08 -20.5558 14.9414 0.70997 0.0:0.9313:0.0:0.0687 . 142;206 Q92989-2;Q92989 .;CLP1_HUMAN C 217;206;206;142 ENSP00000433406:R217C;ENSP00000434995:R206C;ENSP00000436066:R206C;ENSP00000304704:R142C ENSP00000304704:R142C R + 1 0 CLP1 57184822 0.996000 0.38824 0.672000 0.29872 0.990000 0.78478 3.095000 0.50235 1.586000 0.49944 0.645000 0.84053 CGT CLP1-003 NOVEL basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000393465.1 9.180725 0 -13 73 0 0 1 0 NM_006831 7 17.609755 52 0.118644 PLCL1 5334 broad.mit.edu hg19 2 198948757 198948757 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:198948757G>A ENST00000428675.1 + 2 914 c.516G>A c.(514-516)acG>acA p.T172T PLCL1_ENST00000437704.2_Silent_p.T74T NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 172 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 GGAAAAACACGGAAACATTTA 0.463 4 115.0 121.0 119.0 2 198948757 2203 4300 6503 SO:0001819 synonymous_variant D42108 CCDS2326.1, CCDS2326.2 2q33 2014-06-13 2002-02-18 2002-02-22 ENSG00000115896 ENSG00000115896 9063 protein-coding gene gene with protein product """phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127""" 600597 """phospholipase C, epsilon""" PLCE 7633416 Standard NM_006226 Approved PLC-L, PLCL, PRIP, PPP1R127 uc010fsp.3 Q15111 OTTHUMG00000132750 ENST00000428675.1:c.516G>A 2.37:g.198948757G>A Q3MJ90|Q53SD3|Q7Z3S3 ENST00000428675.1 37 CCDS2326.2 PLCL1-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340210.1 95.173145 0 0 86 0 0 1 0 NM_006226 29 95.205099 32 0.475410 NBPF3 84224 broad.mit.edu hg19 1 21809642 21809642 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:21809642C>T ENST00000318220.6 + 18 2545 c.1497C>T c.(1495-1497)aaC>aaT p.N499N NBPF3_ENST00000454000.2_Silent_p.N485N|NBPF3_ENST00000342104.5_Silent_p.N543N|NBPF3_ENST00000318249.5_Silent_p.N555N Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 555 NBPF 4. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCAGGCTCAACGAGGTGCTGA 0.458 0 65.0 66.0 66.0 1 21809642 2199 4294 6493 SO:0001819 synonymous_variant BC024011 CCDS216.1, CCDS57976.1, CCDS57977.1 1p36.12 2013-01-17 ENSG00000142794 ENSG00000142794 """neuroblastoma breakpoint family""" 25076 protein-coding gene gene with protein product 612992 11230166, 16079250 Standard NM_032264 Approved AE2 uc001ber.4 Q9H094 OTTHUMG00000002944 ENST00000318220.6:c.1497C>T 1.37:g.21809642C>T A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96 ENST00000318220.6 37 NBPF3-001 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000008190.2 103.694307 0 -16 130 0 0 1 0 NM_032264 32 103.725985 29 0.524590 PPP6R2 9701 broad.mit.edu hg19 22 50861960 50861960 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:50861960C>T ENST00000359139.3 + 10 1436 c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C PPP6R2_ENST00000395741.3_Missense_Mutation_p.R349C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R348C|PPP6R2_ENST00000216061.5_Missense_Mutation_p.R348C NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 348 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GCATGGCGCCCGCCTCATGGC 0.597 0 103.0 85.0 91.0 22 50861960 2203 4300 6503 SO:0001583 missense AB014585 CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1 22q13.33 2012-04-17 2010-06-28 2010-06-28 ENSG00000100239 ENSG00000100239 """Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits""" 19253 protein-coding gene gene with protein product 610877 """KIAA0685"", ""SAPS domain family, member 2""" KIAA0685, SAPS2 16769727 Standard NM_014678 Approved dJ579N16.1, SAP190 uc003blc.3 O75170 OTTHUMG00000150199 ENST00000359139.3:c.1042C>T 22.37:g.50861960C>T ENSP00000352051:p.Arg348Cys A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9 ENST00000359139.3 37 CCDS56236.1 . . . . . . . . . . C 20.3 3.971290 0.74246 . . ENSG00000100239 ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061 T;T;T;T 0.32023 1.47;1.47;1.47;1.47 5.67 5.67 0.87782 . 0.102883 0.64402 D 0.000004 T 0.59514 0.2199 M 0.82056 2.57 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 0.78314 0.984;0.991;0.977;0.984;0.977 T 0.63274 -0.6674 10 0.87932 D 0 -32.374 17.2603 0.87068 0.0:1.0:0.0:0.0 . 348;348;349;348;348 O75170-5;O75170;O75170-3;O75170-4;O75170-2 .;PP6R2_HUMAN;.;.;. C 348;349;348;348 ENSP00000352051:R348C;ENSP00000379090:R349C;ENSP00000379093:R348C;ENSP00000216061:R348C ENSP00000216061:R348C R + 1 0 PPP6R2 49208826 0.899000 0.30636 1.000000 0.80357 0.987000 0.75469 1.752000 0.38349 2.685000 0.91497 0.591000 0.81541 CGC PPP6R2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000316806.1 15.537655 0 -10 51 0 0 1 0 NM_014678 7 19.065403 31 0.184211 DCP1B 196513 broad.mit.edu hg19 12 2062235 2062235 + Missense_Mutation SNP A A G TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:2062235A>G ENST00000280665.6 - 7 950 c.871T>C c.(871-873)Tgt>Cgt p.C291R DCP1B_ENST00000540622.1_Missense_Mutation_p.C165R|DCP1B_ENST00000397173.4_Missense_Mutation_p.C189R|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 291 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) ATGGCTGGACAGAGCTGCTTC 0.547 0 70.0 74.0 73.0 12 2062235 2203 4300 6503 SO:0001583 missense AY146652 CCDS31727.1 12p13.33 2013-05-02 2013-05-02 ENSG00000151065 ENSG00000151065 24451 protein-coding gene gene with protein product 609843 """DCP1 decapping enzyme homolog B (S. cerevisiae)""" 12417715, 15067023 Standard NM_152640 Approved FLJ31638 uc001qjx.1 Q8IZD4 OTTHUMG00000168113 ENST00000540622.1:c.493T>C 12.37:g.2062235A>G ENSP00000444374:p.Cys165Arg B4DRD1|Q86XH9|Q96BP8|Q96MZ8 ENST00000540622.1 37 . . . . . . . . . . A 19.61 3.859306 0.71834 . . ENSG00000151065 ENST00000280665;ENST00000397173;ENST00000540622 T;T;T 0.59638 0.69;0.52;0.25 5.13 5.13 0.70059 . 0.000000 0.85682 D 0.000000 T 0.73536 0.3599 M 0.67953 2.075 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.997;0.999 T 0.76176 -0.3055 10 0.62326 D 0.03 -14.1539 14.2709 0.66152 1.0:0.0:0.0:0.0 . 189;291 B4DRD1;Q8IZD4 .;DCP1B_HUMAN R 291;189;165 ENSP00000280665:C291R;ENSP00000380358:C189R;ENSP00000444374:C165R ENSP00000280665:C291R C - 1 0 DCP1B 1932496 1.000000 0.71417 0.986000 0.45419 0.974000 0.67602 6.917000 0.75782 2.153000 0.67306 0.528000 0.53228 TGT DCP1B-007 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000398246.1 53.140872 0 5 67 0 0 1 0 NM_152640 18 54.110723 33 0.352941 MYH9 4627 broad.mit.edu hg19 22 36684926 36684926 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr22:36684926C>T ENST00000216181.5 - 33 4847 c.4617G>A c.(4615-4617)acG>acA p.T1539T NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1539 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CTTCCAGCTGCGTCTTCATCT 0.632 0 99.0 92.0 94.0 22 36684926 2203 4300 6503 SO:0001819 synonymous_variant CCDS13927.1 22q13.1 2014-09-17 2006-09-29 ENSG00000100345 ENSG00000100345 """Myosins / Myosin superfamily : Class II""" 7579 protein-coding gene gene with protein product """nonmuscle myosin heavy chain II-A""" 160775 """myosin, heavy polypeptide 9, non-muscle""" DFNA17 1860190, 11023810 Standard NM_002473 Approved NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS uc003apg.3 P35579 OTTHUMG00000030429 ENST00000216181.5:c.4617G>A 22.37:g.36684926C>T A8K6E4|O60805|Q60FE2|Q86T83 ENST00000216181.5 37 CCDS13927.1 MYH9-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000259110.3 -10.672674 0 -14 108 0 0 1 0 NM_002473 4 8.187794 82 0.046512 DPP4 1803 ucsc.edu hg19 2 162877139 162877139 + Missense_Mutation SNP G G T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 G G Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe CTTCTTCATTGCTGATGATCT 0.308 0 78.0 78.0 78.0 2 162877139 2203 4300 6503 SO:0001583 missense M74777 CCDS2216.1 2q24.2 2013-09-19 2008-08-01 ENSG00000197635 ENSG00000197635 """CD molecules""" 3009 protein-coding gene gene with protein product 102720 """dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2""" CD26, ADCP2 8101391 Standard NM_001935 Approved DPPIV uc002ubz.3 P27487 OTTHUMG00000132056 ENST00000360534.3:c.1128C>A 2.37:g.162877139G>T ENSP00000353731:p.Ser376Arg Q53TN1 ENST00000360534.3 37 CCDS2216.1 . . . . . . . . . . G 18.09 3.547277 0.65311 . . ENSG00000197635 ENST00000360534 T 0.31247 1.5 5.65 3.54 0.40534 Peptidase S9B, dipeptidylpeptidase IV N-terminal (1); 0.000000 0.85682 D 0.000000 T 0.53318 0.1789 M 0.83312 2.635 0.58432 D 0.999998 D 0.76494 0.999 D 0.66497 0.944 T 0.56214 -0.8016 10 0.66056 D 0.02 -20.0859 9.8978 0.41329 0.2547:0.0:0.7453:0.0 . 376 P27487 DPP4_HUMAN R 376 ENSP00000353731:S376R ENSP00000353731:S376R S - 3 2 DPP4 162585385 0.878000 0.30173 0.917000 0.36280 0.974000 0.67602 0.372000 0.20467 0.755000 0.32990 0.655000 0.94253 AGC DPP4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255079.2 1 42 4 33 PUS3 83480 broad.mit.edu hg19 11 125763823 125763823 + Nonsense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:125763823G>A ENST00000227474.3 - 4 1400 c.1303C>T c.(1303-1305)Cga>Tga p.R435* HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Nonsense_Mutation_p.R435* NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 435 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) TGCTCAATTCGTCCCCTACGT 0.453 0 224.0 217.0 219.0 11 125763823 2201 4299 6500 SO:0001587 stop_gained BC004822 CCDS8466.1, CCDS73411.1 11q24.2 2008-02-05 25461 protein-coding gene gene with protein product 12477932 Standard NM_031307 Approved FKSG32 uc001qcy.2 Q9BZE2 ENST00000530811.1:c.1303C>T 11.37:g.125763823G>A ENSP00000432386:p.Arg435* B2RAM0|Q96D17|Q96J23|Q96NB4 ENST00000530811.1 37 CCDS8466.1 . . . . . . . . . . G 35 5.434132 0.96150 . . ENSG00000110060 ENST00000227474;ENST00000530811 . . . 5.1 1.67 0.24075 . 0.113923 0.56097 D 0.000040 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -1.0923 10.221 0.43196 0.0:0.1095:0.5456:0.3448 . . . . X 435 . ENSP00000227474:R435X R - 1 2 PUS3 125269033 1.000000 0.71417 0.577000 0.28562 0.981000 0.71138 1.656000 0.37355 0.500000 0.27991 0.591000 0.81541 CGA PUS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386783.1 -8.805168 0 -11 159 0 0 1 0 NM_031307 8 17.544990 123 0.061069 RPL10A 4736 broad.mit.edu hg19 6 35437971 35437971 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:35437971C>T ENST00000322203.6 + 5 353 c.326C>T c.(325-327)gCg>gTg p.A109V RPL10A_ENST00000467020.1_3'UTR NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a 109 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome breast(1)|large_intestine(2)|ovary(1) 4 AAGTATGATGCGTTTTTGGCC 0.498 0 101.0 91.0 94.0 6 35437971 2203 4300 6503 SO:0001583 missense U12404 CCDS4806.1 6p21.31 2011-04-06 ENSG00000198755 ENSG00000198755 """L ribosomal proteins""" 10299 protein-coding gene gene with protein product 615660 NEDD6 7609734, 9647638 Standard NM_007104 Approved Csa-19, L10A uc003okp.1 P62906 OTTHUMG00000014566 ENST00000322203.6:c.326C>T 6.37:g.35437971C>T ENSP00000363018:p.Ala109Val B2R801|P52859|P53025|Q5TZT6|Q8J013 ENST00000322203.6 37 CCDS4806.1 . . . . . . . . . . C 18.26 3.584210 0.65992 . . ENSG00000198755 ENST00000322203 T 0.37235 1.21 4.6 4.6 0.57074 Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1); 0.056931 0.64402 D 0.000002 T 0.23766 0.0575 L 0.53249 1.67 0.80722 D 1 B 0.23442 0.085 B 0.24701 0.055 T 0.09250 -1.0683 10 0.46703 T 0.11 . 16.1008 0.81169 0.0:1.0:0.0:0.0 . 109 P62906 RL10A_HUMAN V 109 ENSP00000363018:A109V ENSP00000363018:A109V A + 2 0 RPL10A 35545949 1.000000 0.71417 1.000000 0.80357 0.711000 0.40976 7.609000 0.82925 2.124000 0.65301 0.456000 0.33151 GCG RPL10A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040283.1 0.297658 0 16 57 0 0 1 0 NM_007104 3 6.649231 33 0.083333 JAG2 3714 broad.mit.edu hg19 14 105618598 105618598 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:105618598G>A ENST00000331782.3 - 6 1222 c.819C>T c.(817-819)tgC>tgT p.C273C RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.C273C NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 273 EGF-like 1. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CACACTCATCGCAGAACCTCC 0.647 0 53.0 43.0 46.0 14 105618598 2201 4300 6501 SO:0001819 synonymous_variant AF020201 CCDS9998.1, CCDS9999.1 14q32 2008-08-01 ENSG00000184916 ENSG00000184916 6189 protein-coding gene gene with protein product 602570 9315665, 10662552 Standard NM_002226 Approved uc001yqg.4 Q9Y219 OTTHUMG00000140172 ENST00000331782.3:c.819C>T 14.37:g.105618598G>A Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0 ENST00000331782.3 37 CCDS9998.1 JAG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000276506.2 12.400683 0 7 29 0 0 1 0 4 12.431811 3 0.571429 CSF2RA 0 broad.mit.edu hg19 X 1413315 1413315 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:1413315G>A ENST00000381524.3 + 8 927 c.741G>A c.(739-741)tcG>tcA p.S247S CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Silent_p.S247S|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381529.3_Silent_p.S247S|CSF2RA_ENST00000355432.3_Silent_p.S247S|CSF2RA_ENST00000501036.2_Silent_p.S114S|CSF2RA_ENST00000381500.1_Silent_p.S247S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Silent_p.S247S|CSF2RA_ENST00000417535.2_Silent_p.S247S|CSF2RA_ENST00000361536.3_Silent_p.S247S P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 247 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGAAGCTGTCGTACCTGGACT 0.597 1 283.0 226.0 245.0 X 1413315 2203 4296 6499 SO:0001819 synonymous_variant M64445 CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1 Xp22.32 and Yp11.3 2014-09-17 ENSG00000198223 ENSG00000198223 """CD molecules"", ""Pseudoautosomal regions / PAR1""" 2435 protein-coding gene gene with protein product 306250, 425000 CSF2R 1702217 Standard NM_006140 Approved CD116 uc010ncv.2 P15509 OTTHUMG00000012533 ENST00000381524.3:c.741G>A X.37:g.1413315G>A A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564 ENST00000381524.3 37 CCDS35191.1 CSF2RA-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000035013.2 25.760506 0 -17 69 0 0 1 0 12 32.037317 54 0.181818 LRRN4 164312 broad.mit.edu hg19 20 6021826 6021826 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr20:6021826C>T ENST00000378858.4 - 5 2289 c.2065G>A c.(2065-2067)Gcc>Acc p.A689T NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 689 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CCGCTGGCGGCGCACAGCCCA 0.716 0 9.0 10.0 10.0 20 6021826 2185 4257 6442 SO:0001583 missense AL118505 CCDS13097.1 20p12.3 2013-02-11 2008-05-20 2008-05-20 ENSG00000125872 ENSG00000125872 """Fibronectin type III domain containing""" 16208 protein-coding gene gene with protein product """chromosome 20 open reading frame 75""" C20orf75 15870286 Standard NM_152611 Approved dJ1056H1.1, NLRR4 uc002wmo.3 Q8WUT4 OTTHUMG00000031825 ENST00000378858.4:c.2065G>A 20.37:g.6021826C>T ENSP00000368135:p.Ala689Thr A8K258|Q5JWV6|Q9H419 ENST00000378858.4 37 CCDS13097.1 . . . . . . . . . . C 12.85 2.060641 0.36373 . . ENSG00000125872 ENST00000378858 T 0.59638 0.25 5.54 -0.18 0.13295 . 0.584607 0.17286 N 0.179835 T 0.34221 0.0890 L 0.34521 1.04 0.09310 N 1 B 0.29037 0.231 B 0.14023 0.01 T 0.12218 -1.0556 10 0.16896 T 0.51 -10.6341 4.9182 0.13856 0.1315:0.481:0.0:0.3876 . 689 Q8WUT4 LRRN4_HUMAN T 689 ENSP00000368135:A689T ENSP00000368135:A689T A - 1 0 LRRN4 5969826 0.000000 0.05858 0.032000 0.17829 0.159000 0.22180 -0.197000 0.09518 -0.021000 0.14009 0.655000 0.94253 GCC LRRN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077907.2 12.963135 0 5 14 0 0 1 0 NM_152611 4 12.902227 0 1.000000 CBL 867 broad.mit.edu hg19 11 119144698 119144698 + Silent SNP G G A rs146662327 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:119144698G>A ENST00000264033.4 + 4 1087 c.711G>A c.(709-711)tcG>tcA p.S237S NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 237 Cbl-PTB.|EF-hand-like. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) ATTATATTTCGGTTTTTGAAT 0.418 0 105.0 103.0 104.0 11 119144698 2199 4295 6494 SO:0001819 synonymous_variant X57110 CCDS8418.1 11q23.3 2014-09-17 2012-02-23 ENSG00000110395 ENSG00000110395 """RING-type (C3HC4) zinc fingers""" 1541 protein-coding gene gene with protein product """oncogene CBL2""" 165360 """Cas-Br-M (murine) ecotropic retroviral transforming sequence""" CBL2 2013228 Standard NM_005188 Approved RNF55, c-Cbl uc001pwe.4 P22681 OTTHUMG00000166170 ENST00000264033.4:c.711G>A 11.37:g.119144698G>A A3KMP8 ENST00000264033.4 37 CCDS8418.1 CBL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000388219.4 26.330825 0 -2 84 0 0 1 0 NM_005188 10 28.603337 30 0.250000 KCNT1 57582 broad.mit.edu hg19 9 138651621 138651621 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:138651621C>T ENST00000298480.5 + 11 1025 c.951C>T c.(949-951)taC>taT p.Y317Y KCNT1_ENST00000371757.2_Silent_p.Y317Y|KCNT1_ENST00000263604.3_Silent_p.Y298Y|KCNT1_ENST00000488444.2_Silent_p.Y298Y|KCNT1_ENST00000486577.2_Silent_p.Y278Y|KCNT1_ENST00000490355.2_Silent_p.Y298Y|KCNT1_ENST00000491806.2_Silent_p.Y284Y|KCNT1_ENST00000487664.1_Silent_p.Y272Y B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 317 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCGTGGGCTACGGTGACGTCA 0.642 0 141.0 103.0 116.0 9 138651621 2202 4300 6502 SO:0001819 synonymous_variant AB037843 CCDS35175.1, CCDS35175.2, CCDS65188.1 9q34.3 2012-07-05 ENSG00000107147 ENSG00000107147 """Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated""" 18865 protein-coding gene gene with protein product 608167 10718198, 16382103 Standard NM_020822 Approved KCa4.1, KIAA1422 uc011mdq.2 Q5JUK3 OTTHUMG00000020917 ENST00000371757.2:c.951C>T 9.37:g.138651621C>T B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5 ENST00000371757.2 37 CCDS35175.2 KCNT1-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000055021.2 58.203150 0 -9 44 0 0 1 0 NM_020822 19 58.364692 14 0.575758 ARMCX2 9823 broad.mit.edu hg19 X 100912019 100912019 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:100912019C>T ENST00000328766.5 - 5 1009 c.556G>A c.(556-558)Gaa>Aaa p.E186K ARMCX2_ENST00000330154.2_Missense_Mutation_p.E186K|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E186K NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 186 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 GCTGCCGCTTCGGTAGGCACC 0.647 0 26.0 25.0 25.0 X 100912019 2188 4264 6452 SO:0001583 missense AB011084 CCDS14490.1 Xq21.33-q22.2 2014-03-21 ENSG00000184867 ENSG00000184867 """Armadillo repeat containing""" 16869 protein-coding gene gene with protein product 300363 9628581, 11162520, 16221301, 22569362 Standard XM_005278109 Approved ALEX2, KIAA0512, GASP9 uc004eif.3 Q7L311 OTTHUMG00000022038 ENST00000328766.5:c.556G>A X.37:g.100912019C>T ENSP00000331662:p.Glu186Lys O60267|Q5H9D9 ENST00000328766.5 37 CCDS14490.1 . . . . . . . . . . C 3.139 -0.176697 0.06380 . . ENSG00000184867 ENST00000328766;ENST00000330154;ENST00000356824 T;T;T 0.30448 1.53;1.53;1.53 4.49 -3.09 0.05331 . 5.841240 0.00357 N 0.000022 T 0.14830 0.0358 N 0.19112 0.55 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.09335 -1.0679 10 0.07482 T 0.82 -0.0177 1.4606 0.02394 0.1281:0.2008:0.2595:0.4116 . 186 Q7L311 ARMX2_HUMAN K 186 ENSP00000331662:E186K;ENSP00000328631:E186K;ENSP00000349281:E186K ENSP00000331662:E186K E - 1 0 ARMCX2 100798675 0.000000 0.05858 0.000000 0.03702 0.024000 0.10985 0.683000 0.25349 -0.688000 0.05155 0.468000 0.43344 GAA ARMCX2-011 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057586.1 54.412367 0 -6 69 0 0 1 0 NM_014782 19 55.811424 38 0.333333 TNS3 64759 broad.mit.edu hg19 7 47333375 47333375 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:47333375G>A ENST00000398879.1 - 25 4094 c.3728C>T c.(3727-3729)cCg>cTg p.P1243L TNS3_ENST00000311160.9_Missense_Mutation_p.P1243L|TNS3_ENST00000355730.3_Missense_Mutation_p.P1003L Q68CZ2 TENS3_HUMAN tensin 3 1243 SH2. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CACTCCCTTCGGGGTACACTC 0.458 1 104.0 103.0 103.0 7 47333375 1923 4126 6049 SO:0001583 missense AF378756 CCDS5506.2 7p12.3 2013-02-14 2005-05-13 2005-05-13 ENSG00000136205 ENSG00000136205 """SH2 domain containing""" 21616 protein-coding gene gene with protein product """tumor endothelial marker 6""" 606825 """tensin-like SH2 domain-containing 1""" TENS1 11559528 Standard NM_022748 Approved TEM6, H_NH0549I23.2, FLJ13732 uc003tnw.3 Q68CZ2 OTTHUMG00000074075 ENST00000398879.1:c.3728C>T 7.37:g.47333375G>A ENSP00000381854:p.Pro1243Leu B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48 ENST00000398879.1 37 CCDS5506.2 . . . . . . . . . . G 21.9 4.218665 0.79464 2.6E-4 0.0 ENSG00000136205 ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849 D;D;D 0.88354 -2.37;-2.37;-2.37 5.05 5.05 0.67936 SH2 motif (4); 0.396370 0.27572 N 0.018761 D 0.91710 0.7379 M 0.74258 2.255 0.80722 D 1 D 0.55605 0.972 P 0.55055 0.767 D 0.92167 0.5740 10 0.72032 D 0.01 -29.9744 11.3714 0.49702 0.0:0.0:0.8189:0.181 . 1243 Q68CZ2 TENS3_HUMAN L 1243;1243;1003;699 ENSP00000312143:P1243L;ENSP00000381854:P1243L;ENSP00000347968:P1003L ENSP00000312143:P1243L P - 2 0 TNS3 47299900 1.000000 0.71417 0.957000 0.39632 0.995000 0.86356 3.405000 0.52630 2.500000 0.84329 0.655000 0.94253 CCG TNS3-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000157253.1 74.723037 0 -1 72 0 0 1 0 NM_022748 23 74.762842 26 0.469388 EHD1 10938 broad.mit.edu hg19 11 64622812 64622812 + Silent SNP C C T rs144668933 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:64622812C>T ENST00000320631.3 - 4 1316 c.1062G>A c.(1060-1062)ccG>ccA p.P354P EHD1_ENST00000359393.2_Silent_p.P354P NM_001282445.1|NM_006795.2 NP_001269374.1|NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 354 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TGCGGAGGCTCGGGAAGTCCC 0.577 0 78.0 78.0 78.0 11 64622812 2201 4297 6498 SO:0001819 synonymous_variant AF099011 CCDS8084.1, CCDS73315.1 11q13 2013-01-10 ENSG00000110047 ENSG00000110047 """EF-hand domain containing""" 3242 protein-coding gene gene with protein product """testilin""" 605888 PAST1 10395801, 10673336 Standard NM_001282444 Approved H-PAST, HPAST1, FLJ42622, FLJ44618 uc001obu.1 Q9H4M9 OTTHUMG00000066832 ENST00000320631.3:c.1062G>A 11.37:g.64622812C>T O14611|Q2M3Q4|Q9UNR3 ENST00000320631.3 37 CCDS8084.1 EHD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000143229.2 21.387363 0 -10 57 0 0 1 0 NM_006795 8 22.699106 21 0.275862 FAM193B 54540 broad.mit.edu hg19 5 176958324 176958324 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:176958324C>T ENST00000329540.5 - 8 2941 c.112G>A c.(112-114)Gcc>Acc p.A38T FAM193B_ENST00000443375.2_Missense_Mutation_p.A379T|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 420 kidney(1)|large_intestine(3) 4 GCGGCCCTGGCGCTGTTGGGG 0.657 0 23.0 26.0 25.0 5 176958324 1888 4104 5992 SO:0001583 missense CCDS54954.1 5q35 2010-02-17 ENSG00000146067 ENSG00000146067 25524 protein-coding gene gene with protein product 615813 11572484 Standard NR_024019 Approved KIAA1931, FLJ10404 uc003mhu.3 Q96PV7 OTTHUMG00000163396 ENST00000329540.5:c.112G>A 5.37:g.176958324C>T ENSP00000332014:p.Ala38Thr E9PET5|Q9NW00 ENST00000329540.5 37 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 25.3|25.3 4.627044|4.627044 0.87560|0.87560 .|. .|. ENSG00000146067|ENSG00000146067 ENST00000443375;ENST00000329540|ENST00000524677 T;T|. 0.52526|. 0.73;0.66|. 5.07|5.07 5.07|5.07 0.68467|0.68467 .|. .|. .|. .|. .|. T|T 0.63581|0.63581 0.2523|0.2523 .|. .|. .|. 0.58432|0.58432 D|D 0.999993|0.999993 D;D|. 0.89917|. 1.0;1.0|. D;D|. 0.71414|. 0.973;0.936|. T|T 0.62163|0.62163 -0.6912|-0.6912 8|4 0.18276|. T|. 0.48|. -5.0806|-5.0806 11.8957|11.8957 0.52656|0.52656 0.0:0.9198:0.0:0.0802|0.0:0.9198:0.0:0.0802 .|. 38;379|. E7ER81;E9PEZ8|. .;.|. T|H 379;38|97 ENSP00000410098:A379T;ENSP00000332014:A38T|. ENSP00000332014:A38T|. A|R -|- 1|2 0|0 FAM193B|FAM193B 176890930|176890930 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.999000|0.999000 0.98932|0.98932 4.969000|4.969000 0.63735|0.63735 2.347000|2.347000 0.79759|0.79759 0.563000|0.563000 0.77884|0.77884 GCC|CGC FAM193B-201 KNOWN basic protein_coding protein_coding 23.098084 0 -2 13 0 0 1 0 NM_019057 8 23.110904 9 0.470588 ZFHX3 463 broad.mit.edu hg19 16 72993655 72993655 + Silent SNP G G A rs144573608 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:72993655G>A ENST00000268489.5 - 2 1062 c.390C>T c.(388-390)gcC>gcT p.A130A ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 130 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGATCTCCCCGGCCAGGTTCT 0.706 0 36.0 39.0 38.0 16 72993655 2198 4300 6498 SO:0001819 synonymous_variant D10250 CCDS10908.1, CCDS54035.1 16q22.3 2012-03-09 2007-08-09 2007-08-09 ENSG00000140836 ENSG00000140836 """Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class""" 777 protein-coding gene gene with protein product 104155 """AT-binding transcription factor 1""" ATBF1 1719379, 7592926 Standard NM_006885 Approved ZNF927 uc002fck.3 Q15911 OTTHUMG00000137599 ENST00000268489.5:c.390C>T 16.37:g.72993655G>A D3DWS8|O15101|Q13719 ENST00000268489.5 37 CCDS10908.1 ZFHX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269008.1 46.620712 0 12 76 0 0 1 0 NM_006885 15 46.723178 19 0.441176 IGSF9B 22997 broad.mit.edu hg19 11 133806051 133806051 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:133806051C>T ENST00000321016.8 - 6 948 c.718G>A c.(718-720)Gtc>Atc p.V240I IGSF9B_ENST00000533871.2_Missense_Mutation_p.V240I Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 240 Ig-like 3. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GAGATGTTGACGGTGATGTTC 0.617 0 58.0 63.0 62.0 11 133806051 2110 4220 6330 SO:0001583 missense AK097578 CCDS61010.1 11q25 2013-02-11 2005-10-12 2005-11-20 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing""" 32326 protein-coding gene gene with protein product 613773 Standard NM_001277285 Approved KIAA1030 uc031qfh.1 Q9UPX0 ENST00000533871.2:c.718G>A 11.37:g.133806051C>T ENSP00000436552:p.Val240Ile G5EA26 ENST00000533871.2 37 . . . . . . . . . . C 21.7 4.189872 0.78789 . . ENSG00000080854 ENST00000321016;ENST00000533871;ENST00000527648 T;T;T 0.70282 -0.47;-0.47;-0.47 5.03 5.03 0.67393 Immunoglobulin I-set (1);Fibronectin, type III (2);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.66177 0.2763 L 0.43923 1.385 0.51482 D 0.999925 B 0.22276 0.067 B 0.26202 0.067 T 0.61501 -0.7050 9 0.29301 T 0.29 . 18.3684 0.90399 0.0:1.0:0.0:0.0 . 240 Q9UPX0 TUTLB_HUMAN I 240;82;240 ENSP00000317980:V240I;ENSP00000436552:V82I;ENSP00000436576:V240I ENSP00000317980:V240I V - 1 0 IGSF9B 133311261 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.487000 0.81328 2.346000 0.79739 0.561000 0.74099 GTC IGSF9B-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000471431.1 11.062822 0 -15 11 0 0 1 0 XM_290502 5 12.380660 16 0.238095 COG2 22796 broad.mit.edu hg19 1 230819334 230819334 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:230819334C>T ENST00000534989.1 + 11 1339 c.1004C>T c.(1003-1005)gCg>gTg p.A335V COG2_ENST00000535166.1_Missense_Mutation_p.A278V|COG2_ENST00000546013.1_Missense_Mutation_p.A83V|COG2_ENST00000366668.3_Missense_Mutation_p.A394V|COG2_ENST00000366669.4_Missense_Mutation_p.A394V Q14746 COG2_HUMAN component of oligomeric golgi complex 2 394 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AGAGAAATAGCGGGATCCTTA 0.388 0 147.0 145.0 146.0 1 230819334 2203 4300 6503 SO:0001583 missense Z34975 CCDS1584.1, CCDS44329.1 1q42.2 2008-02-05 2002-05-28 2002-05-31 ENSG00000135775 ENSG00000135775 """Components of oligomeric golgi complex""" 6546 protein-coding gene gene with protein product 606974 """low density lipoprotein receptor defect C complementing""" LDLC 7962052 Standard NM_007357 Approved uc001htw.3 Q14746 OTTHUMG00000037753 ENST00000366669.4:c.1181C>T 1.37:g.230819334C>T ENSP00000355629:p.Ala394Val Q86U99 ENST00000366669.4 37 CCDS1584.1 . . . . . . . . . . C 26.2 4.718312 0.89205 . . ENSG00000135775 ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013 T;T;T;T;T 0.54071 3.51;3.51;3.51;3.51;0.59 5.69 5.69 0.88448 . 0.047537 0.85682 D 0.000000 T 0.70263 0.3204 M 0.66939 2.045 0.80722 D 1 D;D 0.76494 0.999;0.999 P;D 0.65140 0.859;0.932 T 0.65965 -0.6040 10 0.33141 T 0.24 -19.3267 19.8057 0.96531 0.0:1.0:0.0:0.0 . 394;394 Q86U99;Q14746 .;COG2_HUMAN V 394;278;394;335;83 ENSP00000355629:A394V;ENSP00000445724:A278V;ENSP00000355628:A394V;ENSP00000440349:A335V;ENSP00000442147:A83V ENSP00000355628:A394V A + 2 0 COG2 228885957 0.999000 0.42202 0.964000 0.40570 0.749000 0.42624 4.412000 0.59787 2.682000 0.91365 0.655000 0.94253 GCG COG2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000092087.1 77.535707 0 3 88 0 0 1 0 NM_007357 26 77.769000 34 0.433333 KL 9365 broad.mit.edu hg19 13 33638014 33638014 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr13:33638014C>T ENST00000380099.3 + 5 2738 c.2730C>T c.(2728-2730)tgC>tgT p.C910C KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 910 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TCAATCTTTGCGGATACTTTG 0.403 0 171.0 178.0 176.0 13 33638014 2203 4300 6503 SO:0001819 synonymous_variant AB005142 CCDS9347.1 13q12 2008-02-05 ENSG00000133116 ENSG00000133116 6344 protein-coding gene gene with protein product 604824 9464267 Standard NM_004795 Approved uc001uus.3 Q9UEF7 OTTHUMG00000017408 ENST00000380099.3:c.2730C>T 13.37:g.33638014C>T Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0 ENST00000380099.3 37 CCDS9347.1 KL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045987.1 77.890673 0 0 194 0 0 1 0 30 85.420054 94 0.241935 HSD11B1L 374875 broad.mit.edu hg19 19 5687649 5687649 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:5687649G>A ENST00000581521.1 + 9 1113 c.638G>A c.(637-639)cGa>cAa p.R213Q HSD11B1L_ENST00000339423.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.R132Q|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000577917.1_Missense_Mutation_p.R132Q|HSD11B1L_ENST00000411793.2_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.R213Q|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000423665.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.R126Q Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like 213 extracellular region binding|oxidoreductase activity CTGGGCCTCCGAGATCGCGCC 0.721 0 17.0 19.0 18.0 19 5687649 2198 4293 6491 SO:0001583 missense AY268353 CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1 19p13.3 2011-09-20 ENSG00000167733 """Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3""" 30419 protein-coding gene gene with protein product """short chain dehydrogenase/reductase 10"", ""short chain dehydrogenase/reductase family 26C, member 2""" 12477932 Standard NM_001267868 Approved SCDR10, SDR26C2 uc010dug.4 Q7Z5J1 ENST00000581521.1:c.638G>A 19.37:g.5687649G>A ENSP00000463794:p.Arg213Gln Q05D45|Q52LF4|Q7Z5I9|Q7Z5J0|Q7Z5P5|Q7Z5P6|Q7Z5P7|Q7Z5P8 ENST00000581521.1 37 CCDS12145.1 . . . . . . . . . . G 10.88 1.474145 0.26423 . . ENSG00000167733 ENST00000411793;ENST00000301382;ENST00000423665;ENST00000342970;ENST00000339423 D;T;T;T;T 0.82255 -1.59;0.73;0.73;0.73;0.73 2.78 0.379 0.16213 . 0.098975 0.42053 U 0.000762 T 0.61540 0.2355 L 0.27053 0.805 0.09310 N 1 B;B;P;B;B;P 0.38745 0.236;0.04;0.645;0.04;0.04;0.513 B;B;B;B;B;B 0.23150 0.036;0.003;0.044;0.01;0.005;0.019 T 0.58188 -0.7680 10 0.87932 D 0 . 3.5427 0.07818 0.2496:0.0:0.5084:0.242 . 126;79;132;213;132;213 Q7Z5J1-5;Q7Z5J1-7;Q7Z5J1-6;Q7Z5J1-2;Q7Z5J1-3;Q7Z5J1 .;.;.;.;.;DHI1L_HUMAN Q 79;132;213;126;213 ENSP00000398955:R79Q;ENSP00000301382:R132Q;ENSP00000407154:R213Q;ENSP00000343451:R126Q;ENSP00000340436:R213Q ENSP00000301382:R132Q R + 2 0 HSD11B1L 5638649 0.809000 0.29036 0.456000 0.27044 0.543000 0.35085 0.464000 0.21988 0.033000 0.15463 -0.266000 0.10368 CGA HSD11B1L-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442581.1 8.421932 0 -3 7 0 0 1 0 NM_198706 3 8.643371 6 0.333333 GALNT2 2590 broad.mit.edu hg19 1 230371780 230371780 + Missense_Mutation SNP G G A rs151140953 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:230371780G>A ENST00000366672.4 + 4 467 c.395G>A c.(394-396)cGg>cAg p.R132Q GALNT2_ENST00000541865.1_Missense_Mutation_p.R42Q|GALNT2_ENST00000543760.1_Missense_Mutation_p.R94Q NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 132 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) AAGCAGTGGCGGGTGGATCTG 0.577 0 43.0 41.0 42.0 1 230371780 2203 4300 6503 SO:0001583 missense BC041120 CCDS1582.1 1q41-q42 2014-03-13 2014-03-13 ENSG00000143641 ENSG00000143641 """Glycosyltransferase family 2 domain containing""" 4124 protein-coding gene gene with protein product """polypeptide GalNAc transferase 2""" 602274 """UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)""" 9592121, 7592619 Standard NM_004481 Approved GalNAc-T2 uc010pwa.1 Q10471 OTTHUMG00000037771 ENST00000366672.4:c.395G>A 1.37:g.230371780G>A ENSP00000355632:p.Arg132Gln A8K1Y3|B7Z8V8|C5HU00|Q9NPY4 ENST00000366672.4 37 CCDS1582.1 . . . . . . . . . . G 14.13 2.442195 0.43326 2.27E-4 0.0 ENSG00000143641 ENST00000543760;ENST00000366672;ENST00000541865 T;T;T 0.59083 0.29;0.29;0.29 5.18 5.18 0.71444 . 0.598474 0.18343 N 0.144121 T 0.47154 0.1430 L 0.39020 1.185 0.53005 D 0.999966 B;B 0.23650 0.053;0.089 B;B 0.08055 0.002;0.003 T 0.39502 -0.9611 10 0.13108 T 0.6 . 17.4619 0.87622 0.0:0.0:1.0:0.0 . 132;94 Q10471;G3V1S6 GALT2_HUMAN;. Q 94;132;42 ENSP00000445017:R94Q;ENSP00000355632:R132Q;ENSP00000444346:R42Q ENSP00000355632:R132Q R + 2 0 GALNT2 228438403 1.000000 0.71417 0.997000 0.53966 0.988000 0.76386 5.387000 0.66243 2.415000 0.81967 0.563000 0.77884 CGG GALNT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092158.1 19.916762 0 7 42 0 0 1 0 NM_004481 7 20.848872 17 0.291667 RNPEPL1 57140 broad.mit.edu hg19 2 241513964 241513964 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:241513964C>T ENST00000270357.4 + 6 1107 c.514C>T c.(514-516)Cgc>Tgc p.R172C NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) GACTGCCTTCCGCCTGGACGC 0.647 0 40.0 38.0 38.0 2 241513964 2201 4300 6501 SO:0001583 missense 2q37.3 2012-03-06 ENSG00000142327 ENSG00000142327 10079 protein-coding gene gene with protein product 605287 19508204 Standard NM_018226 Approved uc002vzi.4 Q9HAU8 OTTHUMG00000133357 ENST00000270357.4:c.514C>T 2.37:g.241513964C>T ENSP00000270357:p.Arg172Cys Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0 ENST00000270357.4 37 . . . . . . . . . . C 21.8 4.197781 0.79015 . . ENSG00000142327 ENST00000270357 T 0.02606 4.23 4.64 3.73 0.42828 Peptidase M1, membrane alanine aminopeptidase, N-terminal (1); 0.058902 0.64402 D 0.000001 T 0.11623 0.0283 M 0.63843 1.955 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.75020 0.972;0.985 T 0.00573 -1.1664 10 0.72032 D 0.01 -16.6565 12.4432 0.55637 0.0:0.8288:0.1711:0.0 . 78;172 A4FTX9;Q9HAU8 .;RNPL1_HUMAN C 172 ENSP00000270357:R172C ENSP00000270357:R172C R + 1 0 RNPEPL1 241162637 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 4.310000 0.59141 1.013000 0.39391 0.591000 0.81541 CGC RNPEPL1-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000257190.4 30.879059 0 -5 17 0 0 1 0 NM_018226 9 31.130815 5 0.642857 SEC16A 9919 broad.mit.edu hg19 9 139371003 139371003 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:139371003G>A ENST00000313050.7 - 1 1138 c.1065C>T c.(1063-1065)gcC>gcT p.A355A SEC16A_ENST00000431893.2_Silent_p.A177A|SEC16A_ENST00000290037.6_Silent_p.A177A|SEC16A_ENST00000371706.3_Silent_p.A177A NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 177 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) AGCCAGACCCGGCCCCAGCCC 0.602 0 15.0 17.0 17.0 9 139371003 1845 4089 5934 SO:0001819 synonymous_variant AK074565 CCDS55351.1, CCDS75936.1 9q34.3 2007-06-20 2007-06-20 2007-06-20 ENSG00000148396 ENSG00000148396 29006 protein-coding gene gene with protein product 612854 """KIAA0310""" KIAA0310 9205841 Standard NM_014866 Approved p250 uc004chx.3 O15027 OTTHUMG00000020932 ENST00000371706.3:c.531C>T 9.37:g.139371003G>A A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1 ENST00000371706.3 37 SEC16A-001 KNOWN basic protein_coding protein_coding OTTHUMT00000055077.1 19.319572 0 -11 23 0 0 1 0 XM_088459 7 19.716319 13 0.350000 GAPT 202309 broad.mit.edu hg19 5 57790685 57790685 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:57790685G>A ENST00000396776.2 + 3 784 c.322G>A c.(322-324)Gat>Aat p.D108N GAPT_ENST00000318469.2_Missense_Mutation_p.D108N NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 108 B cell activation integral to membrane|plasma membrane NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 AGGAAAAACCGATAAGGAACT 0.418 0 77.0 79.0 78.0 5 57790685 2203 4300 6503 SO:0001583 missense AK090960 CCDS3975.1 5q11.2 2011-11-01 2008-10-07 2008-10-07 ENSG00000175857 ENSG00000175857 26588 protein-coding gene gene with protein product """GRB2-binding transmembrane adaptor""" """chromosome 5 open reading frame 29""" C5orf29 Standard NM_152687 Approved FLJ33641 uc003jro.1 Q8N292 OTTHUMG00000131219 ENST00000396776.2:c.322G>A 5.37:g.57790685G>A ENSP00000379997:p.Asp108Asn ENST00000396776.2 37 CCDS3975.1 . . . . . . . . . . G 10.95 1.494661 0.26774 . . ENSG00000175857 ENST00000396776;ENST00000318469 T;T 0.51071 0.72;0.72 5.05 1.33 0.21861 . 1.755270 0.02719 N 0.113789 T 0.33206 0.0855 N 0.14661 0.345 0.09310 N 1 B 0.25206 0.12 B 0.21151 0.033 T 0.31308 -0.9948 10 0.66056 D 0.02 0.0312 7.1449 0.25577 0.3584:0.0:0.6416:0.0 . 108 Q8N292 GAPT_HUMAN N 108 ENSP00000379997:D108N;ENSP00000323075:D108N ENSP00000323075:D108N D + 1 0 GAPT 57826442 0.000000 0.05858 0.000000 0.03702 0.042000 0.13812 0.112000 0.15479 0.125000 0.18397 0.655000 0.94253 GAT GAPT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253963.1 -4.520047 0 -25 58 0 0 1 0 NM_152687 3 6.702063 51 0.055556 ADCY5 111 broad.mit.edu hg19 3 123049783 123049783 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:123049783G>A ENST00000462833.1 - 5 2811 c.1599C>T c.(1597-1599)caC>caT p.H533H ADCY5_ENST00000491190.1_Silent_p.H166H|ADCY5_ENST00000309879.5_Silent_p.H183H NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 533 Guanylate cyclase 1. activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) AGCAGTGGGCGTGGTCAGCCC 0.542 0 85.0 71.0 76.0 3 123049783 2203 4300 6503 SO:0001819 synonymous_variant U65473 CCDS3022.1, CCDS56274.1 3q21.1 2013-02-04 ENSG00000173175 ENSG00000173175 """Adenylate cyclases""" 236 protein-coding gene gene with protein product 600293 10481931 Standard NM_183357 Approved AC5 uc003egh.2 O95622 OTTHUMG00000159517 ENST00000491190.1:c.498C>T 3.37:g.123049783G>A B7Z8A6|Q7RTV7|Q8NFM3 ENST00000491190.1 37 ADCY5-002 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000355890.1 47.152089 0 -7 22 0 0 1 0 XM_171048 14 49.279047 1 0.933333 CDC20B 166979 broad.mit.edu hg19 5 54420729 54420729 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:54420729C>T ENST00000296733.1 - 9 1291 c.1117G>A c.(1117-1119)Ggc>Agc p.G373S CDC20B_ENST00000381375.2_Missense_Mutation_p.G373S|CDC20B_ENST00000322374.6_Missense_Mutation_p.G373S|CDC20B_ENST00000334206.5_3'UTR NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 373 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TCACTGCAGCCGCTGGAAAGC 0.567 0 113.0 100.0 104.0 5 54420729 2203 4300 6503 SO:0001583 missense AB086378 CCDS3966.1, CCDS47207.1, CCDS54852.1 5q11.2 2013-01-17 2013-01-17 ENSG00000164287 ENSG00000164287 """WD repeat domain containing""" 24222 protein-coding gene gene with protein product """CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)""" Standard NM_152623 Approved FLJ37927 uc003jpo.2 Q86Y33 OTTHUMG00000131185 ENST00000381375.2:c.1117G>A 5.37:g.54420729C>T ENSP00000370781:p.Gly373Ser B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56 ENST00000381375.2 37 CCDS54852.1 . . . . . . . . . . C 28.1 4.886946 0.91814 . . ENSG00000164287 ENST00000296733;ENST00000381375;ENST00000322374 T;T;T 0.69806 -0.43;-0.43;-0.43 4.66 4.66 0.58398 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1); 0.000000 0.43260 D 0.000589 T 0.80706 0.4674 M 0.65498 2.005 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 T 0.83243 -0.0057 10 0.87932 D 0 -27.0194 17.3439 0.87305 0.0:1.0:0.0:0.0 . 373;373;373 Q86Y33-3;Q86Y33;Q86Y33-2 .;CD20B_HUMAN;. S 373 ENSP00000296733:G373S;ENSP00000370781:G373S;ENSP00000315720:G373S ENSP00000296733:G373S G - 1 0 CDC20B 54456486 1.000000 0.71417 1.000000 0.80357 0.753000 0.42808 3.443000 0.52907 2.402000 0.81655 0.650000 0.86243 GGC CDC20B-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000369715.1 11.824914 0 -15 88 0 0 1 0 NM_152623 9 22.202590 65 0.121622 ALDH1A3 220 broad.mit.edu hg19 15 101440860 101440860 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr15:101440860G>A ENST00000329841.5 + 9 1496 c.964G>A c.(964-966)Gtg>Atg p.V322M ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V215M|RP11-66B24.4_ENST00000560351.1_RNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 322 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) CAGGGTGTTCGTGGAGGAGCA 0.607 0 63.0 56.0 59.0 15 101440860 2203 4300 6503 SO:0001583 missense U07919 CCDS10389.1 15q26 2010-05-07 ENSG00000184254 ENSG00000184254 """Aldehyde dehydrogenases""" 409 protein-coding gene gene with protein product """retinaldehyde dehydrogenase 3""" 600463 ALDH6 7698756 Standard XR_111558 Approved RALDH3 uc002bwn.4 P47895 OTTHUMG00000149870 ENST00000329841.5:c.964G>A 15.37:g.101440860G>A ENSP00000332256:p.Val322Met Q6NT64 ENST00000329841.5 37 CCDS10389.1 . . . . . . . . . . G 19.12 3.764979 0.69878 . . ENSG00000184254 ENST00000329841;ENST00000346623 D 0.86030 -2.06 5.7 5.7 0.88788 Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1); 0.000000 0.85682 D 0.000000 D 0.96414 0.8830 H 0.99391 4.545 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 D 0.98041 1.0382 10 0.87932 D 0 . 19.8405 0.96681 0.0:0.0:1.0:0.0 . 226;322 Q7Z3A2;P47895 .;AL1A3_HUMAN M 322;226 ENSP00000332256:V322M ENSP00000332256:V322M V + 1 0 ALDH1A3 99258383 1.000000 0.71417 1.000000 0.80357 0.091000 0.18340 9.338000 0.96553 2.671000 0.90904 0.655000 0.94253 GTG ALDH1A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313620.2 12.967092 0 11 30 0 0 1 0 5 13.930535 14 0.263158 CPNE6 9362 broad.mit.edu hg19 14 24543954 24543954 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr14:24543954C>T ENST00000397016.2 + 8 933 c.622C>T c.(622-624)Cgc>Tgc p.R208C CPNE6_ENST00000537691.1_Missense_Mutation_p.R263C|CPNE6_ENST00000216775.2_Missense_Mutation_p.R208C NM_001280558.1 NP_001267487.1 O95741 CPNE6_HUMAN copine VI (neuronal) 208 C2 2. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) GGAGCCGTTCCGCCTGTCCCT 0.557 0 83.0 78.0 80.0 14 24543954 2203 4300 6503 SO:0001583 missense AB009288 CCDS9607.1, CCDS61413.1 14q11.2 2008-07-09 ENSG00000100884 ENSG00000100884 2319 protein-coding gene gene with protein product 605688 9645480 Standard NM_001280558 Approved uc001wll.3 O95741 OTTHUMG00000028781 ENST00000397016.2:c.622C>T 14.37:g.24543954C>T ENSP00000380211:p.Arg208Cys B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1 ENST00000397016.2 37 CCDS9607.1 . . . . . . . . . . C 19.81 3.896233 0.72639 . . ENSG00000100884 ENST00000537691;ENST00000397016;ENST00000216775 T;T;T 0.70045 -0.45;-0.45;-0.45 4.89 4.89 0.63831 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.000000 0.56097 D 0.000025 T 0.69548 0.3123 L 0.28556 0.865 0.49483 D 0.999795 D;D 0.89917 1.0;0.998 P;D 0.65443 0.894;0.935 T 0.72127 -0.4384 10 0.72032 D 0.01 -27.0527 11.0714 0.48006 0.1854:0.8146:0.0:0.0 . 263;208 F5GXN1;O95741 .;CPNE6_HUMAN C 263;208;208 ENSP00000440077:R263C;ENSP00000380211:R208C;ENSP00000216775:R208C ENSP00000216775:R208C R + 1 0 CPNE6 23613794 1.000000 0.71417 1.000000 0.80357 0.826000 0.46750 3.351000 0.52232 2.435000 0.82474 0.313000 0.20887 CGC CPNE6-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071869.5 11.697111 0 2 22 0 0 1 0 4 11.877031 7 0.363636 PPL 5493 broad.mit.edu hg19 16 4949058 4949058 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:4949058C>T ENST00000345988.2 - 8 921 c.832G>A c.(832-834)Gac>Aac p.D278N PPL_ENST00000590782.2_Missense_Mutation_p.D276N NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 278 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 AGCAGCTGGTCGCCCTCGCTG 0.632 0 76.0 83.0 81.0 16 4949058 2197 4300 6497 SO:0001583 missense AF013717 CCDS10526.1 16p13.3 2008-02-05 ENSG00000118898 ENSG00000118898 9273 protein-coding gene gene with protein product 602871 9570964, 9521878 Standard NM_002705 Approved uc002cyd.1 O60437 OTTHUMG00000129528 ENST00000345988.2:c.832G>A 16.37:g.4949058C>T ENSP00000340510:p.Asp278Asn O60314|O60454|Q14C98 ENST00000345988.2 37 CCDS10526.1 . . . . . . . . . . C 19.61 3.859704 0.71834 . . ENSG00000118898 ENST00000345988 T 0.35048 1.33 5.04 4.09 0.47781 . 0.183662 0.47093 D 0.000242 T 0.34048 0.0884 M 0.64170 1.965 0.46954 D 0.999262 B 0.26041 0.14 B 0.15484 0.013 T 0.19095 -1.0316 10 0.59425 D 0.04 . 10.6588 0.45690 0.0:0.8456:0.0:0.1544 . 278 O60437 PEPL_HUMAN N 278 ENSP00000340510:D278N ENSP00000340510:D278N D - 1 0 PPL 4889059 0.998000 0.40836 0.811000 0.32455 0.441000 0.31987 3.919000 0.56439 1.126000 0.42016 0.561000 0.74099 GAC PPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251715.1 59.787848 0 -30 91 0 0 1 0 NM_002705 21 60.964744 39 0.350000 WDR96 80217 broad.mit.edu hg19 10 105971913 105971913 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr10:105971913G>A ENST00000357060.3 - 5 702 c.587C>T c.(586-588)tCg>tTg p.S196L WDR96_ENST00000369719.1_Missense_Mutation_p.S126L|WDR96_ENST00000278064.2_Missense_Mutation_p.S126L|WDR96_ENST00000369720.1_Missense_Mutation_p.S126L|WDR96_ENST00000428666.1_Missense_Mutation_p.S196L NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 196 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TAATTTCACCGACCTGTAGAC 0.428 0 55.0 53.0 54.0 10 105971913 2203 4300 6503 SO:0001583 missense ENST00000278064.2:c.377C>T 10.37:g.105971913G>A ENSP00000278064:p.Ser126Leu ENST00000278064.2 37 . . . . . . . . . . G 12.18 1.860622 0.32884 0.0 2.33E-4 ENSG00000197748 ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719 T;T;T;T;T 0.71579 1.5;1.5;1.5;1.5;-0.58 5.51 1.27 0.21489 WD40 repeat-like-containing domain (1); 0.564958 0.13400 N 0.390738 T 0.57504 0.2058 L 0.43152 1.355 0.09310 N 0.999997 B;B;B 0.14805 0.011;0.004;0.005 B;B;B 0.13407 0.009;0.002;0.003 T 0.42632 -0.9440 10 0.27785 T 0.31 . 6.7757 0.23619 0.1399:0.0:0.6121:0.2479 . 196;196;196 Q8NDM7-5;B4DHB6;Q8NDM7 .;.;WDR96_HUMAN L 196;196;126;126;126 ENSP00000349568:S196L;ENSP00000400289:S196L;ENSP00000278064:S126L;ENSP00000358734:S126L;ENSP00000358733:S126L ENSP00000278064:S126L S - 2 0 WDR96 105961903 0.005000 0.15991 0.010000 0.14722 0.043000 0.13939 0.367000 0.20382 0.255000 0.21593 -0.137000 0.14449 TCG WDR96-003 KNOWN basic protein_coding protein_coding OTTHUMT00000050200.1 22.120429 0 0 49 0 0 1 0 10 26.105593 39 0.204082 CACNA2D1 781 broad.mit.edu hg19 7 81635088 81635088 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr7:81635088C>T ENST00000356860.3 - 17 1846 c.1508G>A c.(1507-1509)cGt>cAt p.R503H CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R503H NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 503 Cache. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 TACTGTAAAACGTGGTGTCAG 0.358 1 126.0 119.0 121.0 7 81635088 2203 4299 6502 SO:0001583 missense M76559 CCDS5598.1 7q21-q22 2014-09-17 ENSG00000153956 ENSG00000153956 """Calcium channel subunits""" 1399 protein-coding gene gene with protein product 114204 """long intergenic non-protein coding RNA 1112""" CACNL2A, CACNA2, MHS3, LINC01112 8188232 Standard XM_005250570 Approved lncRNA-N3 uc003uhr.1 P54289 OTTHUMG00000023622 ENST00000356860.3:c.1508G>A 7.37:g.81635088C>T ENSP00000349320:p.Arg503His Q17R45|Q9UD80|Q9UD81|Q9UD82 ENST00000356860.3 37 CCDS5598.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 20.3|20.3 3.959816|3.959816 0.74016|0.74016 .|. .|. ENSG00000153956|ENSG00000153956 ENST00000356860;ENST00000284088;ENST00000356253|ENST00000443883 T;T|. 0.07327|. 3.22;3.2|. 5.38|5.38 5.38|5.38 0.77491|0.77491 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.69940|0.69940 0.3167|0.3167 L|L 0.49126|0.49126 1.545|1.545 0.80722|0.80722 D|D 1|1 B|. 0.19817|. 0.039|. B|. 0.17979|. 0.02|. T|T 0.66337|0.66337 -0.5949|-0.5949 10|5 0.54805|. T|. 0.06|. -11.1241|-11.1241 18.7374|18.7374 0.91761|0.91761 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 503|. P54289-2|. .|. H|I 503|7 ENSP00000349320:R503H;ENSP00000348589:R503H|. ENSP00000284088:R503H|. R|V -|- 2|1 0|0 CACNA2D1|CACNA2D1 81473024|81473024 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.982000|0.982000 0.71751|0.71751 7.461000|7.461000 0.80834|0.80834 2.523000|2.523000 0.85059|0.85059 0.591000|0.591000 0.81541|0.81541 CGT|GTT CACNA2D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253340.4 65.974007 0 4 75 0 0 1 0 21 65.974007 21 0.500000 DAPK1 1612 broad.mit.edu hg19 9 90219978 90219978 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:90219978C>T ENST00000469640.2 + 3 547 c.172C>T c.(172-174)Cgc>Tgc p.R58C DAPK1_ENST00000472284.1_Missense_Mutation_p.R58C|DAPK1_ENST00000408954.3_Missense_Mutation_p.R58C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R58C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R58C P53355 DAPK1_HUMAN death-associated protein kinase 1 58 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 GGGTGTGAGCCGCGAGGACAT 0.562 2 62.0 64.0 63.0 9 90219978 2193 4298 6491 SO:0001583 missense X76104 CCDS43842.1 9q34.1 2013-01-10 ENSG00000196730 ENSG00000196730 """Ankyrin repeat domain containing""" 2674 protein-coding gene gene with protein product 600831 8530096 Standard XM_005251757 Approved DAPK uc004apd.3 P53355 OTTHUMG00000020150 ENST00000491893.1:c.172C>T 9.37:g.90219978C>T ENSP00000419026:p.Arg58Cys B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8 ENST00000491893.1 37 . . . . . . . . . . C 21.6 4.179700 0.78564 . . ENSG00000196730 ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893 T;T;T;T;T 0.66460 -0.21;-0.21;-0.21;-0.21;-0.21 5.04 5.04 0.67666 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.46145 D 0.000308 D 0.83839 0.5341 M 0.85630 2.765 0.80722 D 1 D;D;D 0.89917 1.0;1.0;0.999 D;D;P 0.85130 0.997;0.969;0.853 D 0.86445 0.1769 10 0.87932 D 0 . 17.55 0.87873 0.0:1.0:0.0:0.0 . 58;58;58 B7ZLE7;B7Z454;P53355 .;.;DAPK1_HUMAN C 58 ENSP00000350785:R58C;ENSP00000417076:R58C;ENSP00000418885:R58C;ENSP00000386135:R58C;ENSP00000419026:R58C ENSP00000350785:R58C R + 1 0 DAPK1 89409798 1.000000 0.71417 0.998000 0.56505 0.983000 0.72400 2.127000 0.42035 2.628000 0.89032 0.511000 0.50034 CGC DAPK1-011 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000356844.1 22.595497 0 0 44 0 0 1 0 NM_004938 8 22.770501 12 0.400000 METTL25 84190 broad.mit.edu hg19 12 82752382 82752382 + Missense_Mutation SNP T T C TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:82752382T>C ENST00000248306.3 + 1 107 c.38T>C c.(37-39)cTg>cCg p.L13P CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 ACCCCGGACCTGCCCACGCTG 0.622 0 55.0 47.0 50.0 12 82752382 2203 4300 6503 SO:0001583 missense BC029120 CCDS9024.1 12q21.31 2012-08-13 2012-08-13 2012-08-13 ENSG00000127720 ENSG00000127720 26228 protein-coding gene gene with protein product """chromosome 12 open reading frame 26""" C12orf26 Standard NM_032230 Approved FLJ22789 uc001szq.3 Q8N6Q8 OTTHUMG00000170252 ENST00000248306.3:c.38T>C 12.37:g.82752382T>C ENSP00000248306:p.Leu13Pro Q9H5Y3 ENST00000248306.3 37 CCDS9024.1 . . . . . . . . . . T 18.56 3.651132 0.67472 . . ENSG00000127720 ENST00000248306;ENST00000548200 T 0.38401 1.14 5.22 4.0 0.46444 . 0.631611 0.15637 N 0.252084 T 0.49949 0.1587 M 0.76574 2.34 0.28316 N 0.922456 D 0.63880 0.993 P 0.59288 0.855 T 0.50127 -0.8864 10 0.72032 D 0.01 -6.825 4.8582 0.13570 0.0:0.0951:0.1911:0.7138 . 13 Q8N6Q8 CL026_HUMAN P 13 ENSP00000248306:L13P ENSP00000248306:L13P L + 2 0 C12orf26 81276513 0.843000 0.29541 0.926000 0.36857 0.918000 0.54935 2.224000 0.42945 1.972000 0.57404 0.528000 0.53228 CTG METTL25-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408192.1 0.498013 0 0 40 0 0 1 0 NM_032230 3 6.848948 33 0.083333 ARHGEF10L 55160 broad.mit.edu hg19 1 17958885 17958885 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:17958885G>A ENST00000361221.3 + 16 1813 c.1654G>A c.(1654-1656)Ggg>Agg p.G552R ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.G310R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.G552R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G330R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G260R NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 552 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CGGTGACCGCGGGCAGCTAAT 0.592 0 125.0 124.0 124.0 1 17958885 2203 4300 6503 SO:0001583 missense AB046846 CCDS182.1, CCDS30617.1 1p36.13 2011-11-16 ENSG00000074964 ENSG00000074964 """Rho guanine nucleotide exchange factors""" 25540 protein-coding gene gene with protein product """GrinchGEF""" 612494 10997877, 16112081 Standard XM_005245923 Approved FLJ10521, KIAA1626 uc001ban.3 Q9HCE6 OTTHUMG00000002514 ENST00000375415.1:c.1537G>A 1.37:g.17958885G>A ENSP00000364564:p.Gly513Arg B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3 ENST00000375415.1 37 CCDS30617.1 . . . . . . . . . . G 20.2 3.951786 0.73787 . . ENSG00000074964 ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825 T;T;T;T;T;T;T 0.17691 2.26;2.26;2.26;2.26;2.26;2.26;2.26 5.44 5.44 0.79542 Pleckstrin homology-type (1); 0.000000 0.85682 D 0.000000 T 0.45756 0.1358 M 0.78456 2.415 0.58432 D 0.999991 D;D;D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999 D;D;D;D;D;D;D;D 0.97110 0.999;0.998;1.0;1.0;0.999;1.0;0.956;0.927 T 0.45600 -0.9250 10 0.87932 D 0 -27.9363 17.8089 0.88609 0.0:0.0:1.0:0.0 . 330;310;552;260;318;513;513;552 Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6 .;.;.;.;.;.;.;ARGAL_HUMAN R 552;513;552;513;310;330;330;260 ENSP00000355060:G552R;ENSP00000399401:G513R;ENSP00000394621:G552R;ENSP00000364564:G513R;ENSP00000364569:G310R;ENSP00000364557:G330R;ENSP00000167825:G260R ENSP00000167825:G260R G + 1 0 ARHGEF10L 17831472 1.000000 0.71417 0.954000 0.39281 0.243000 0.25628 9.357000 0.97099 2.545000 0.85829 0.561000 0.74099 GGG ARHGEF10L-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000007149.1 6.377963 0 -8 132 0 0 1 0 NM_018125 10 23.380663 94 0.096154 JPH3 57338 broad.mit.edu hg19 16 87723889 87723889 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr16:87723889C>T ENST00000284262.2 + 4 2165 c.1923C>T c.(1921-1923)gaC>gaT p.D641D JPH3_ENST00000563609.1_3'UTR NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 641 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) GCTTGGGGGACGACCACCGCC 0.667 0 10.0 11.0 11.0 16 87723889 2167 4279 6446 SO:0001819 synonymous_variant AB042636 CCDS10962.1 16q24.3 2008-02-05 2002-11-13 ENSG00000154118 ENSG00000154118 14203 protein-coding gene gene with protein product 605268 """trinucleotide repeat containing 22""" TNRC22 10949023, 10891348 Standard NM_020655 Approved JP-3, CAGL237, HDL2, JP3 uc002fkd.4 Q8WXH2 OTTHUMG00000137656 ENST00000284262.2:c.1923C>T 16.37:g.87723889C>T D3DUN2|Q8N471|Q9HDC3|Q9HDC4 ENST00000284262.2 37 CCDS10962.1 JPH3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269108.2 11.499359 0 8 17 0 0 1 0 4 11.499359 4 0.500000 DGKQ 1609 broad.mit.edu hg19 4 955350 955350 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr4:955350C>T ENST00000273814.3 - 21 2552 c.2479G>A c.(2479-2481)Gac>Aac p.D827N NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 827 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCCCACAGGTCGGCCCCCGAG 0.692 0 12.0 13.0 13.0 4 955350 2178 4285 6463 SO:0001583 missense L38707 CCDS3342.1 4p16.3 2008-08-29 2002-08-29 ENSG00000145214 ENSG00000145214 2856 protein-coding gene gene with protein product 601207 """diacylglycerol kinase, theta (110kD)""" DAGK4 8617502, 9099683 Standard NM_001347 Approved DAGK, DAGK7 uc003gbw.4 P52824 OTTHUMG00000088629 ENST00000273814.3:c.2479G>A 4.37:g.955350C>T ENSP00000273814:p.Asp827Asn Q6P3W4 ENST00000273814.3 37 CCDS3342.1 . . . . . . . . . . C 8.004 0.756020 0.15846 . . ENSG00000145214 ENST00000273814;ENST00000515182 T;T 0.29917 1.55;1.55 5.32 4.48 0.54585 Diacylglycerol kinase, accessory domain (2); 0.044570 0.85682 N 0.000000 T 0.22513 0.0543 N 0.01809 -0.71 0.58432 D 0.999998 D;D 0.89917 0.974;1.0 P;D 0.91635 0.763;0.999 T 0.20840 -1.0263 10 0.02654 T 1 . 11.3869 0.49791 0.0:0.9115:0.0:0.0884 . 827;827 E9KL49;P52824 .;DGKQ_HUMAN N 827;42 ENSP00000273814:D827N;ENSP00000421756:D42N ENSP00000273814:D827N D - 1 0 DGKQ 945350 1.000000 0.71417 0.898000 0.35279 0.162000 0.22319 5.204000 0.65180 1.251000 0.43983 0.556000 0.70494 GAC DGKQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000200888.1 22.629577 0 -7 10 0 0 1 0 7 23.268906 2 0.777778 ARMCX1 51309 broad.mit.edu hg19 X 100808010 100808010 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chrX:100808010G>A ENST00000372829.3 + 4 468 c.97G>A c.(97-99)Gag>Aag p.E33K NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 33 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 GGGAAGAGACGAGAACGAGAA 0.572 0 78.0 68.0 72.0 X 100808010 2203 4300 6503 SO:0001583 missense AB039670 CCDS14487.1 Xq21.33-q22.2 2014-03-21 ENSG00000126947 ENSG00000126947 """Armadillo repeat containing""" 18073 protein-coding gene gene with protein product 300362 11162520, 16221301, 22569362 Standard NM_016608 Approved ALEX1, GASP7 uc004ehv.3 Q9P291 OTTHUMG00000022033 ENST00000372829.3:c.97G>A X.37:g.100808010G>A ENSP00000361917:p.Glu33Lys Q53HK2|Q9H2Q0 ENST00000372829.3 37 CCDS14487.1 . . . . . . . . . . g 17.02 3.282336 0.59867 . . ENSG00000126947 ENST00000372829 T 0.23348 1.91 3.6 3.6 0.41247 . 0.809987 0.10763 N 0.636898 T 0.28400 0.0702 N 0.12182 0.205 0.29300 N 0.868781 D 0.76494 0.999 D 0.68621 0.959 T 0.09751 -1.0660 10 0.23891 T 0.37 -10.2104 9.701 0.40187 0.0:0.0:1.0:0.0 . 33 Q9P291 ARMX1_HUMAN K 33 ENSP00000361917:E33K ENSP00000361917:E33K E + 1 0 ARMCX1 100694666 0.991000 0.36638 0.848000 0.33437 0.580000 0.36256 2.394000 0.44450 2.036000 0.60181 0.544000 0.68410 GAG ARMCX1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057561.1 0.601473 0 -8 44 0 0 1 0 NM_016608 3 6.428303 31 0.088235 DAK 26007 broad.mit.edu hg19 11 61106798 61106798 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr11:61106798G>A ENST00000394900.3 + 5 606 c.377G>A c.(376-378)cGg>cAg p.R126Q NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 126 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 GAGCAGGCCCGGGCTGAAGGC 0.662 0 54.0 59.0 57.0 11 61106798 2203 4299 6502 SO:0001583 missense CCDS8003.1 11q12.2 2009-11-06 2006-04-04 ENSG00000149476 ENSG00000149476 24552 protein-coding gene gene with protein product 615844 """dihydroxyacetone kinase 2 homolog (yeast)""" Standard XM_005273898 Approved DKFZP586B1621, NET45 uc001nre.3 Q3LXA3 OTTHUMG00000168076 ENST00000394900.3:c.377G>A 11.37:g.61106798G>A ENSP00000378360:p.Arg126Gln Q2L9C1|Q53EQ9|Q9BVA7|Q9H895 ENST00000394900.3 37 CCDS8003.1 . . . . . . . . . . G 17.24 3.338840 0.60963 . . ENSG00000149476 ENST00000394900;ENST00000532173;ENST00000529479 T;T;T 0.31769 1.48;1.48;1.48 5.25 -0.792 0.10925 Dak kinase (2); 0.250144 0.40640 N 0.001042 T 0.25531 0.0621 L 0.55017 1.72 0.32060 N 0.595796 B;B 0.20988 0.05;0.031 B;B 0.29942 0.07;0.109 T 0.13656 -1.0501 10 0.41790 T 0.15 -4.3986 6.2213 0.20683 0.3734:0.0:0.5147:0.1119 . 126;126 Q2L9C1;Q3LXA3 .;DHAK_HUMAN Q 126;126;125 ENSP00000378360:R126Q;ENSP00000431844:R126Q;ENSP00000432539:R125Q ENSP00000378360:R126Q R + 2 0 DAK 60863374 1.000000 0.71417 0.952000 0.39060 0.962000 0.63368 1.860000 0.39428 -0.457000 0.07033 -0.263000 0.10527 CGG DAK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394425.4 76.505820 0 5 94 0 0 1 0 NM_015533 28 80.211995 68 0.291667 SIPA1L3 23094 broad.mit.edu hg19 19 38573659 38573659 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:38573659C>T ENST00000222345.6 + 3 1963 c.1454C>T c.(1453-1455)aCg>aTg p.T485M NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 485 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CAGCAGCGGACGCAGAGTCGG 0.662 0 29.0 34.0 32.0 19 38573659 2203 4300 6503 SO:0001583 missense AB011117 CCDS33007.1 19q13.13 2008-02-05 ENSG00000105738 ENSG00000105738 23801 protein-coding gene gene with protein product Standard XM_005258671 Approved KIAA0545 uc002ohk.3 O60292 OTTHUMG00000073727 ENST00000222345.6:c.1454C>T 19.37:g.38573659C>T ENSP00000222345:p.Thr485Met Q2TV87 ENST00000222345.6 37 CCDS33007.1 . . . . . . . . . . C 13.19 2.161874 0.38217 . . ENSG00000105738 ENST00000222345 T 0.75704 -0.96 5.15 4.08 0.47627 . 0.178179 0.49916 D 0.000138 T 0.47135 0.1429 N 0.08118 0 0.09310 N 0.999999 P 0.35348 0.496 B 0.26202 0.067 T 0.38607 -0.9653 10 0.34782 T 0.22 -18.1799 7.689 0.28557 0.1427:0.5259:0.3313:0.0 . 485 O60292 SI1L3_HUMAN M 485 ENSP00000222345:T485M ENSP00000222345:T485M T + 2 0 SIPA1L3 43265499 0.006000 0.16342 0.990000 0.47175 0.815000 0.46073 1.828000 0.39111 2.411000 0.81874 0.563000 0.77884 ACG SIPA1L3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000156294.2 13.230275 0 -11 29 0 0 1 0 XM_032278 6 16.368576 27 0.181818 ATP1A2 477 broad.mit.edu hg19 1 160105664 160105664 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr1:160105664G>A ENST00000361216.3 + 17 2409 c.2320G>A c.(2320-2322)Gcc>Acc p.A774T ATP1A2_ENST00000392233.3_Missense_Mutation_p.A774T NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 774 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GAAATCCATCGCCTACACCCT 0.567 0 168.0 144.0 152.0 1 160105664 2203 4300 6503 SO:0001583 missense AB018321 CCDS1196.1 1q23.2 2014-09-17 2010-04-20 ENSG00000018625 ENSG00000018625 """ATPases / P-type""" 800 protein-coding gene gene with protein product """sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2""" 182340 """migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide""" MHP2 9403481 Standard NM_000702 Approved FHM2 uc001fvc.3 P50993 OTTHUMG00000024080 ENST00000361216.3:c.2320G>A 1.37:g.160105664G>A ENSP00000354490:p.Ala774Thr D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25 ENST00000361216.3 37 CCDS1196.1 . . . . . . . . . . G 22.7 4.324867 0.81580 . . ENSG00000018625 ENST00000361216;ENST00000392233;ENST00000435866 D;D 0.88664 -2.41;-2.41 4.35 4.35 0.52113 ATPase, P-type, transmembrane domain (1); 0.000000 0.85682 D 0.000000 T 0.77405 0.4125 L 0.31752 0.955 0.80722 D 1 P;B 0.40032 0.699;0.346 B;B 0.36244 0.22;0.07 T 0.82566 -0.0393 10 0.56958 D 0.05 . 16.155 0.81657 0.0:0.0:1.0:0.0 . 674;774 F5GXJ7;P50993 .;AT1A2_HUMAN T 774;774;477 ENSP00000354490:A774T;ENSP00000376066:A774T ENSP00000354490:A774T A + 1 0 ATP1A2 158372288 1.000000 0.71417 0.999000 0.59377 0.996000 0.88848 9.601000 0.98297 2.401000 0.81631 0.555000 0.69702 GCC ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060642.2 52.442010 0 -36 151 0 0 1 0 NM_000702 21 55.706856 54 0.280000 ZNF367 195828 broad.mit.edu hg19 9 99157146 99157146 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr9:99157146C>T ENST00000375256.4 - 3 946 c.650G>A c.(649-651)cGt>cAt p.R217H NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 217 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) GGTGTGAAGACGCTGATGTGT 0.388 0 96.0 88.0 91.0 9 99157146 2203 4300 6503 SO:0001583 missense AK091289 CCDS6718.1 9q22 2008-05-02 ENSG00000165244 ENSG00000165244 """Zinc fingers, C2H2-type""" 18320 protein-coding gene gene with protein product 610160 Standard NM_153695 Approved FLJ33970 uc004awf.3 Q7RTV3 OTTHUMG00000020295 ENST00000375256.4:c.650G>A 9.37:g.99157146C>T ENSP00000364405:p.Arg217His Q6Q7C8 ENST00000375256.4 37 CCDS6718.1 . . . . . . . . . . C 34 5.334771 0.95758 . . ENSG00000165244 ENST00000375256 T 0.25749 1.78 5.1 5.1 0.69264 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.85682 D 0.000000 T 0.51753 0.1693 M 0.68317 2.08 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.998;0.999 T 0.53613 -0.8414 10 0.87932 D 0 -10.4563 18.7044 0.91632 0.0:1.0:0.0:0.0 . 217;217 Q7RTV3-2;Q7RTV3 .;ZN367_HUMAN H 217 ENSP00000364405:R217H ENSP00000364405:R217H R - 2 0 ZNF367 98196967 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 7.289000 0.78701 2.653000 0.90120 0.650000 0.86243 CGT ZNF367-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053266.1 65.065571 0 12 86 0 0 1 0 21 65.485682 31 0.403846 LY6G6C 80740 broad.mit.edu hg19 6 31687914 31687914 + Missense_Mutation SNP C C T rs150046471 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:31687914C>T ENST00000375819.2 - 2 284 c.119G>A c.(118-120)cGc>cAc p.R40H LY6G6C_ENST00000495859.1_5'UTR NM_025261.2 NP_079537.1 O95867 LY66C_HUMAN lymphocyte antigen 6 complex, locus G6C 40 UPAR/Ly6. anchored to membrane|plasma membrane NS(1)|large_intestine(1)|lung(1)|skin(1) 4 TGGCTCCAGGCGGCAGGACTG 0.587 0 162.0 116.0 132.0 6 31687914 1510 2709 4219 SO:0001583 missense CCDS4714.1 6p21 2008-08-29 2002-07-29 2002-08-01 ENSG00000204421 ENSG00000204421 13936 protein-coding gene gene with protein product 610435 """chromosome 6 open reading frame 24""" C6orf24 10384126, 12079290 Standard NM_025261 Approved G6c, NG24 uc003nwh.3 O95867 OTTHUMG00000031251 ENST00000375819.2:c.119G>A 6.37:g.31687914C>T ENSP00000364978:p.Arg40His Q5SRS8|Q8IY94 ENST00000375819.2 37 CCDS4714.1 . . . . . . . . . . C 17.09 3.300568 0.60195 . . ENSG00000204421 ENST00000375819 D 0.90324 -2.65 5.34 -2.74 0.05932 . 0.199909 0.25456 N 0.030553 T 0.65196 0.2668 N 0.24115 0.695 0.09310 N 1 B 0.13145 0.007 B 0.08055 0.003 T 0.60239 -0.7302 10 0.72032 D 0.01 -30.6231 4.8661 0.13609 0.536:0.2078:0.0:0.2562 . 40 O95867 LY66C_HUMAN H 40 ENSP00000364978:R40H ENSP00000364978:R40H R - 2 0 LY6G6C 31795893 0.001000 0.12720 0.747000 0.31113 0.987000 0.75469 -1.321000 0.02697 -0.412000 0.07519 0.591000 0.81541 CGC LY6G6C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076530.2 37.231391 0 -14 77 0 0 1 0 14 38.948249 33 0.297872 SLC25A12 8604 broad.mit.edu hg19 2 172641886 172641886 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:172641886C>T ENST00000422440.2 - 18 1972 c.1935G>A c.(1933-1935)acG>acA p.T645T SLC25A12_ENST00000392592.4_Silent_p.T538T NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 645 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) TGCCTGCAAACGTGGCTGTGG 0.517 0 177.0 163.0 168.0 2 172641886 2203 4300 6503 SO:0001819 synonymous_variant Y14494 CCDS33327.1 2q24 2013-05-22 2012-03-29 ENSG00000115840 ENSG00000115840 """Solute carriers"", ""EF-hand domain containing""" 10982 protein-coding gene gene with protein product 603667 """solute carrier family 25 (mitochondrial carrier, Aralar), member 12""" 9722566, 10702666, 11566871 Standard NM_003705 Approved Aralar uc002uhh.3 O75746 OTTHUMG00000134290 ENST00000422440.2:c.1935G>A 2.37:g.172641886C>T B3KR64|Q96AM8 ENST00000422440.2 37 CCDS33327.1 SLC25A12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000259010.2 38.459041 0 18 99 0 0 1 0 NM_003705 16 44.152518 59 0.213333 XAB2 56949 ucsc.edu hg19 19 7685536 7685536 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 G G Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe CATCTCACGCGCGTGCTCGTC 0.662 0 33.0 34.0 34.0 19 7685536 2203 4300 6503 SO:0001583 missense AB026111 CCDS32892.1 19p13.3 2013-08-21 ENSG00000076924 14089 protein-coding gene gene with protein product """SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor""" 610850 10944529 Standard NM_020196 Approved HCNP, HCRN, SYF1, NTC90 uc002mgx.3 Q9HCS7 ENST00000358368.4:c.1991C>T 19.37:g.7685536G>A ENSP00000351137:p.Ala664Val Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3 ENST00000358368.4 37 CCDS32892.1 . . . . . . . . . . G 8.058 0.767491 0.15983 . . ENSG00000076924 ENST00000358368;ENST00000534844 T;T 0.42900 0.96;0.96 4.31 3.26 0.37387 Tetratricopeptide-like helical (1); 0.142130 0.46145 N 0.000312 T 0.32941 0.0846 L 0.49571 1.57 0.50632 D 0.999885 B 0.28584 0.216 B 0.19666 0.026 T 0.09378 -1.0677 10 0.24483 T 0.36 -25.3541 11.0621 0.47953 0.0929:0.0:0.9071:0.0 . 664 Q9HCS7 SYF1_HUMAN V 664;661 ENSP00000351137:A664V;ENSP00000438225:A661V ENSP00000351137:A664V A - 2 0 XAB2 7591536 0.832000 0.29368 0.839000 0.33178 0.046000 0.14306 3.857000 0.55972 1.018000 0.39521 0.460000 0.39030 GCG XAB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000461021.1 -3 57 NM_020196 5 35 ALMS1 7840 broad.mit.edu hg19 2 73828485 73828485 + Silent SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr2:73828485C>T ENST00000264448.6 + 19 12144 c.12033C>T c.(12031-12033)gaC>gaT p.D4011D ALMS1_ENST00000409009.1_Silent_p.D3969D|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4011 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AGCACCTGGACGGTCGGGGCT 0.592 0 51.0 59.0 57.0 2 73828485 2198 4298 6496 SO:0001819 synonymous_variant AB002326 CCDS42697.1 2p13.1 2014-09-17 ENSG00000116127 ENSG00000116127 428 protein-coding gene gene with protein product 606844 9063741 Standard NM_015120 Approved KIAA0328 uc002sje.1 Q8TCU4 OTTHUMG00000152812 ENST00000264448.6:c.12033C>T 2.37:g.73828485C>T Q53S05|Q580Q8|Q86VP9|Q9Y4G4 ENST00000264448.6 37 CCDS42697.1 ALMS1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000327776.1 6.346896 0 -2 60 0 0 1 0 NM_015120 5 12.575331 38 0.116279 SLC6A12 6539 broad.mit.edu hg19 12 319146 319146 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:319146C>T ENST00000428720.1 - 3 750 c.7G>A c.(7-9)Ggg>Agg p.G3R SLC6A12_ENST00000359674.4_Missense_Mutation_p.G3R|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G3R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G3R|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G3R NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 3 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GCCACCTTCCCGTCCATGGCT 0.607 0 63.0 54.0 57.0 12 319146 2203 4300 6503 SO:0001583 missense L42300 CCDS8501.1 12p13 2013-07-19 2013-07-19 ENSG00000111181 ENSG00000111181 """Solute carriers""" 11045 protein-coding gene gene with protein product """betaine/GABA transporter-1""" 603080 """solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12""" 7589472 Standard NM_003044 Approved BGT-1 uc009zdh.2 P48065 OTTHUMG00000090309 ENST00000428720.1:c.7G>A 12.37:g.319146C>T ENSP00000388184:p.Gly3Arg A0AV52|B2R992|D3DUN8 ENST00000428720.1 37 CCDS8501.1 . . . . . . . . . . C 8.125 0.781842 0.16120 . . ENSG00000111181 ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793;ENST00000535347 T;T;T;T;T;T;T 0.71934 -0.61;-0.61;-0.61;-0.61;-0.61;-0.33;1.0 5.63 0.973 0.19710 . 1.223420 0.06279 N 0.697043 T 0.47637 0.1456 N 0.08118 0 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.28299 -1.0048 10 0.29301 T 0.29 . 4.8536 0.13549 0.1418:0.2934:0.0:0.5648 . 3 P48065 S6A12_HUMAN R 3 ENSP00000352702:G3R;ENSP00000380464:G3R;ENSP00000388184:G3R;ENSP00000399136:G3R;ENSP00000444268:G3R;ENSP00000439351:G3R;ENSP00000446082:G3R ENSP00000352702:G3R G - 1 0 SLC6A12 189407 0.000000 0.05858 0.006000 0.13384 0.020000 0.10135 -0.018000 0.12568 0.081000 0.16988 0.563000 0.77884 GGG SLC6A12-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000206671.2 20.219424 0 -2 24 0 0 1 0 NM_003044 7 20.616251 13 0.350000 PDZD2 23037 broad.mit.edu hg19 5 32090677 32090677 + Missense_Mutation SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:32090677G>A ENST00000438447.1 + 20 7511 c.7123G>A c.(7123-7125)Ggc>Agc p.G2375S PDZD2_ENST00000282493.3_Missense_Mutation_p.G2375S O15018 PDZD2_HUMAN PDZ domain containing 2 2375 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCGGTCTTCCGGCAGCATTGT 0.597 0 33.0 36.0 35.0 5 32090677 2203 4300 6503 SO:0001583 missense AB002298 CCDS34137.1 5p14.1 2008-02-05 2006-01-24 2006-01-24 ENSG00000133401 18486 protein-coding gene gene with protein product 610697 """PDZ domain containing 3""" PDZK3 9205841 Standard XM_005248271 Approved KIAA0300 uc003jhm.3 O15018 ENST00000438447.1:c.7123G>A 5.37:g.32090677G>A ENSP00000402033:p.Gly2375Ser Q9BXD4 ENST00000438447.1 37 CCDS34137.1 . . . . . . . . . . G 17.34 3.363700 0.61513 . . ENSG00000133401 ENST00000438447;ENST00000382161;ENST00000282493 T;T 0.54675 0.56;0.56 5.15 4.28 0.50868 . 0.120727 0.37955 N 0.001864 T 0.67785 0.2930 M 0.71581 2.175 0.39987 D 0.974999 D 0.89917 1.0 D 0.91635 0.999 T 0.67063 -0.5765 10 0.27785 T 0.31 . 11.3637 0.49660 0.0887:0.0:0.9113:0.0 . 2375 O15018 PDZD2_HUMAN S 2375;2176;2375 ENSP00000402033:G2375S;ENSP00000282493:G2375S ENSP00000282493:G2375S G + 1 0 PDZD2 32126434 1.000000 0.71417 0.633000 0.29310 0.233000 0.25261 3.440000 0.52886 1.159000 0.42565 0.561000 0.74099 GGC PDZD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366608.1 10.825999 0 7 47 0 0 1 0 6 15.521943 34 0.150000 PCDHA6 0 broad.mit.edu hg19 5 140209242 140209242 + Silent SNP G G A TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:140209242G>A ENST00000529310.1 + 1 1680 c.1566G>A c.(1564-1566)ccG>ccA p.P522P PCDHA6_ENST00000527624.1_Silent_p.P522P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGCAGCCGCTGGACCACG 0.682 0 68.0 79.0 75.0 5 140209242 2202 4291 6493 SO:0001819 synonymous_variant AF152484 CCDS47281.1, CCDS47282.1 5q31 2010-11-26 ENSG00000081842 ENSG00000081842 """Cadherins / Protocadherins : Clustered""" 8672 other complex locus constituent """KIAA0345-like 8""" 606312 CNRS2 10380929, 10662547 Standard NM_018909 Approved CNR2, CRNR2, PCDH-ALPHA6 Q9UN73 OTTHUMG00000163353 ENST00000529310.1:c.1566G>A 5.37:g.140209242G>A O75283|Q9NRT8 ENST00000529310.1 37 CCDS47281.1 PCDHA6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372829.3 -25.217087 0 -40 164 0 0 1 0 NM_018909 4 7.306372 130 0.029851 NSD1 64324 broad.mit.edu hg19 5 176637574 176637574 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr5:176637574C>T ENST00000439151.2 + 5 2219 c.2174C>T c.(2173-2175)aCg>aTg p.T725M NSD1_ENST00000354179.4_Missense_Mutation_p.T456M|NSD1_ENST00000347982.4_Missense_Mutation_p.T456M|NSD1_ENST00000361032.4_Missense_Mutation_p.T622M NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 725 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGAACCGAGACGTCTCAGGTT 0.423 0 73.0 74.0 74.0 5 176637574 2203 4300 6503 SO:0001583 missense AK026066 CCDS4412.1, CCDS4413.1 5q35 2014-09-17 2003-03-12 ENSG00000165671 ENSG00000165671 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 14234 protein-coding gene gene with protein product 606681 """Sotos syndrome""" STO 9628876, 11896389 Standard NM_022455 Approved ARA267, FLJ22263, KMT3B uc003mfr.4 Q96L73 OTTHUMG00000130846 ENST00000439151.2:c.2174C>T 5.37:g.176637574C>T ENSP00000395929:p.Thr725Met Q96PD8|Q96RN7 ENST00000439151.2 37 CCDS4412.1 . . . . . . . . . . C 0.010 -1.761860 0.00651 . . ENSG00000165671 ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032 D;D;D;D 0.93019 -3.04;-3.05;-3.04;-3.15 5.1 -1.69 0.08186 . 0.639611 0.14885 N 0.292703 T 0.80444 0.4624 N 0.14661 0.345 0.09310 N 1 B;B;B 0.19445 0.013;0.036;0.007 B;B;B 0.14578 0.01;0.011;0.004 T 0.66614 -0.5879 9 . . . . 0.8064 0.01084 0.2065:0.2947:0.1203:0.3786 . 456;622;725 Q96L73-2;Q96L73-3;Q96L73 .;.;NSD1_HUMAN M 456;456;725;456;622 ENSP00000346111:T456M;ENSP00000395929:T725M;ENSP00000343209:T456M;ENSP00000354310:T622M . T + 2 0 NSD1 176570180 0.580000 0.26733 0.045000 0.18777 0.008000 0.06430 0.891000 0.28309 -0.134000 0.11516 -0.794000 0.03295 ACG NSD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253412.2 66.475643 0 -10 57 0 0 1 0 NM_172349 21 66.480953 20 0.512195 AGAP2 116986 broad.mit.edu hg19 12 58125237 58125237 + Missense_Mutation SNP C C T TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr12:58125237C>T ENST00000257897.3 - 10 1134 c.1049G>A c.(1048-1050)cGa>cAa p.R350Q AGAP2_ENST00000547588.1_Missense_Mutation_p.R686Q NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 686 Interaction with PLCG1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 ATTGCCACTTCGTTTTAGTAG 0.473 0 116.0 117.0 116.0 12 58125237 2203 4300 6503 SO:0001583 missense AF413077 CCDS8951.1, CCDS44932.1 12q13.2 2013-05-30 2008-09-22 2008-09-22 ENSG00000135439 ENSG00000135439 """ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing""" 16921 protein-coding gene gene with protein product 605476 """centaurin, gamma 1""" CENTG1 Standard NM_001122772 Approved uc001spq.3 Q99490 OTTHUMG00000170285 ENST00000547588.1:c.2057G>A 12.37:g.58125237C>T ENSP00000449241:p.Arg686Gln A8K9F7|O00578|Q548E0|Q8IWU3 ENST00000547588.1 37 CCDS44932.1 . . . . . . . . . . C 29.0 4.970111 0.92855 . . ENSG00000135439 ENST00000257897;ENST00000547588;ENST00000549129 T;T;T 0.79141 -1.24;-1.24;-1.24 5.07 5.07 0.68467 Pleckstrin homology-type (1);Pleckstrin homology domain (3); 0.000000 0.64402 D 0.000002 D 0.83348 0.5235 L 0.37800 1.135 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.997;0.999;1.0 D 0.83433 0.0039 10 0.51188 T 0.08 . 17.7595 0.88460 0.0:1.0:0.0:0.0 . 350;686;686 Q99490-2;F8VVT9;Q99490 .;.;AGAP2_HUMAN Q 350;686;42 ENSP00000257897:R350Q;ENSP00000449241:R686Q;ENSP00000446683:R42Q ENSP00000257897:R350Q R - 2 0 AGAP2 56411504 1.000000 0.71417 1.000000 0.80357 0.822000 0.46500 7.304000 0.78882 2.818000 0.97014 0.655000 0.94253 CGA AGAP2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408367.1 81.041729 0 -55 79 0 0 1 0 NM_014770 26 81.393054 36 0.419355 UBR2 23304 broad.mit.edu hg19 6 42626026 42626026 + Missense_Mutation SNP G G A rs147976047 TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr6:42626026G>A ENST00000372899.1 + 28 3289 c.3031G>A c.(3031-3033)Gtg>Atg p.V1011M UBR2_ENST00000372883.3_Missense_Mutation_p.V515M|UBR2_ENST00000372901.1_Missense_Mutation_p.V1011M NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1011 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TACCAGTCCCGTGGCAGAGAC 0.323 0 56.0 64.0 61.0 6 42626026 2203 4300 6503 SO:0001583 missense BC024217 CCDS4870.1, CCDS55001.1 6p21.1 2008-06-23 2005-01-10 2005-01-12 ENSG00000024048 ENSG00000024048 """Ubiquitin protein ligase E3 component n-recognins""" 21289 protein-coding gene gene with protein product 609134 """chromosome 6 open reading frame 133""" C6orf133 Standard NM_015255 Approved bA49A4.1, dJ392M17.3, KIAA0349 uc011dur.2 Q8IWV8 OTTHUMG00000014703 ENST00000372899.1:c.3031G>A 6.37:g.42626026G>A ENSP00000361990:p.Val1011Met O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0 ENST00000372899.1 37 CCDS4870.1 2 9.157509157509158E-4 0 0.0 0 0.0 0 0.0 2 0.002638522427440633 G 15.46 2.840548 0.51057 2.27E-4 0.0 ENSG00000024048 ENST00000372899;ENST00000372901;ENST00000372883 T;T;T 0.49720 0.77;0.77;0.77 5.8 4.04 0.47022 . 0.201836 0.46442 D 0.000292 T 0.39036 0.1063 L 0.54323 1.7 0.43890 D 0.996513 D;P 0.61697 0.99;0.934 P;B 0.51974 0.686;0.34 T 0.17992 -1.0351 10 0.33940 T 0.23 -4.5776 12.5366 0.56145 0.1349:0.0:0.8651:0.0 . 1011;1011 Q8IWV8-4;Q8IWV8 .;UBR2_HUMAN M 1011;1011;515 ENSP00000361990:V1011M;ENSP00000361992:V1011M;ENSP00000361974:V515M ENSP00000361974:V515M V + 1 0 UBR2 42734004 1.000000 0.71417 1.000000 0.80357 0.648000 0.38561 4.684000 0.61686 0.798000 0.33994 -0.244000 0.11960 GTG UBR2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000040558.2 53.767981 0 0 59 0 0 1 0 NM_015255 17 54.100687 25 0.404762 SF3A2 8175 broad.mit.edu hg19 19 2243426 2243426 + Frame_Shift_Del DEL C C - TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:2243426delC ENST00000221494.5 + 2 427 c.9delC c.(7-9)ttcfs p.F3fs NM_007165.4 NP_009096.2 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2, 66kDa nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCATGGACTTCCAGCATCGCC 0.662 0 37.0 45.0 42.0 19 2243426 2202 4299 6501 SO:0001589 frameshift_variant L21990 CCDS12084.1 19p13.3 2012-10-02 2002-08-29 ENSG00000104897 ENSG00000104897 10766 protein-coding gene gene with protein product 600796 """splicing factor 3a, subunit 2, 66kD""" 8211113, 8541848 Standard NM_007165 Approved SF3a66, SAP62, PRPF11, Prp11 uc002lvg.3 Q15428 OTTHUMG00000180414 ENST00000221494.5:c.9delC 19.37:g.2243426delC ENSP00000221494:p.Phe3fs B2RBU1|D6W605|O75245 ENST00000221494.5 37 CCDS12084.1 SF3A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000451268.3 . . -11 35 9 16 0.36 SCAF1 58506 broad.mit.edu hg19 19 50155567 50155569 + In_Frame_Del DEL AAG AAG - TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr19:50155567_50155569delAAG ENST00000360565.3 + 7 2045_2047 c.1921_1923delAAG c.(1921-1923)aagdel p.K645del NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 645 Arg-rich.|Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TGGCGGCAGCAAGAAGAAGAAGA 0.744 0 SO:0001651 inframe_deletion AK024444 CCDS33074.1 19q13.3-q13.4 2011-01-10 ENSG00000126461 ENSG00000126461 30403 protein-coding gene gene with protein product 11461075 Standard NM_021228 Approved SR-A1, FLJ00034 uc002poq.3 Q9H7N4 ENST00000360565.3:c.1921_1923delAAG 19.37:g.50155576_50155578delAAG ENSP00000353769:p.Lys645del Q7Z5V7|Q8WVA1|Q9NR59 ENST00000360565.3 37 CCDS33074.1 SCAF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000465764.1 . . -3 4 NM_021228 3 3 0.50 BAP1 8314 broad.mit.edu hg19 3 52437188 52437217 + In_Frame_Del DEL CCAGGCCTCACCATCCCCGTCTTCTCTCTG CCAGGCCTCACCATCCCCGTCTTCTCTCTG - rs35353781 byFrequency TCGA-YZ-A985-01A-11D-A39W-08 TCGA-YZ-A985-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 7a3d6a96-9d0b-469d-9768-afd80542777e 5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe g.chr3:52437188_52437217delCCAGGCCTCACCATCCCCGTCTTCTCTCTG ENST00000460680.1 - 14 2298_2327 c.1827_1856delCAGAGAGAAGACGGGGATGGTGAGGCCTGG c.(1825-1857)agcagagagaagacggggatggtgaggcctggc>agc p.REKTGMVRPG610del BAP1_ENST00000296288.5_In_Frame_Del_p.REKTGMVRPG592del NM_004656.2 NP_004647.1 Q99496 RING2_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 0 anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151) chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGG 0.609 1 SO:0001651 inframe_deletion AF045581 CCDS2853.1 3p21.31-p21.2 2014-09-17 ENSG00000163930 ENSG00000163930 950 protein-coding gene gene with protein product 603089 9528852 Standard NM_004656 Approved hucep-6, KIAA0272, UCHL2 uc003ddx.4 Q92560 OTTHUMG00000158392 ENST00000460680.1:c.1827_1856delCAGAGAGAAGACGGGGATGGTGAGGCCTGG 3:g.52437188_52437217delCCAGGCCTCACCATCCCCGTCTTCTCTCTG ENSP00000417132:p.Arg610_Gly619del B2RBS7|B3KRH1|Q5TEN1|Q5TEN2 ENST00000460680.1 CCDS2853.1 BAP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000350895.1 2.004000e+01 1.641000e+01 -1 59 4 2 7.140000e-01