#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACO2	50	hgsc.bcm.edu;ucsc.edu	37	22	41914522	41914522	+	Silent	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr22:41914522G>A	ENST00000216254.4	+	8	1000	c.978G>A	c.(976-978)ttG>ttA	p.L326L	ACO2_ENST00000396512.3_Silent_p.L351L|ACO2_ENST00000466237.1_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	326					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						AGGATCACTTGGTGCCTGACC	0.443																																																	0													175.0	162.0	166.0					22																	41914522		2203	4300	6503	SO:0001819	synonymous_variant	50			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.978G>A	22.37:g.41914522G>A			O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	CCDS14017.1																																																																																				0.443	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1		NM_001098	
ANKRD6	22881	hgsc.bcm.edu;ucsc.edu	37	6	90340623	90340627	+	Frame_Shift_Del	DEL	ATCAG	ATCAG	-			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	ATCAG	ATCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:90340623_90340627delATCAG	ENST00000522441.1	+	16	2725_2729	c.2084_2088delATCAG	c.(2083-2088)aatcagfs	p.NQ695fs	ANKRD6_ENST00000447838.2_Frame_Shift_Del_p.NQ690fs|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000339746.4_Frame_Shift_Del_p.NQ695fs|ANKRD6_ENST00000520793.1_Frame_Shift_Del_p.NQ631fs|ANKRD6_ENST00000369408.5_Frame_Shift_Del_p.NQ660fs	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	695					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCCAAGCCAATCAGAAAGCCCAGC	0.429																																																	0																																										SO:0001589	frameshift_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.2084_2088delATCAG	6.37:g.90340623_90340627delATCAG	ENSP00000430985:p.Asn695fs		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Frame_Shift_Del	DEL	ENST00000522441.1	37	CCDS56441.1																																																																																				0.429	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			
ERICH5	203111	hgsc.bcm.edu;ucsc.edu	37	8	99101670	99101670	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr8:99101670C>T	ENST00000318528.3	+	2	784	c.425C>T	c.(424-426)tCt>tTt	p.S142F	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		142								p.S142Y(1)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGCCGAGTCTCTAAAAGGA	0.557																																																	1	Substitution - Missense(1)	large_intestine(1)											67.0	69.0	68.0					8																	99101670		2203	4300	6503	SO:0001583	missense	203111																														ENST00000318528.3:c.425C>T	8.37:g.99101670C>T	ENSP00000315614:p.Ser142Phe		G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534261	0.27475	.	.	ENSG00000177459	ENST00000318528	T	0.48201	0.82	5.08	4.2	0.49525	.	1.276180	0.05296	N	0.522153	T	0.37625	0.1010	N	0.14661	0.345	0.24977	N	0.991627	B	0.22851	0.076	B	0.26770	0.073	T	0.36163	-0.9759	10	0.72032	D	0.01	1.1802	11.1412	0.48404	0.1836:0.8164:0.0:0.0	.	142	Q6P6B1	CH047_HUMAN	F	142	ENSP00000315614:S142F	ENSP00000315614:S142F	S	+	2	0	C8orf47	99170846	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.192000	0.17096	1.488000	0.48433	0.655000	0.94253	TCT		0.557	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1			
CD300LF	146722	hgsc.bcm.edu;ucsc.edu	37	17	72700848	72700848	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr17:72700848T>A	ENST00000326165.6	-	2	262	c.151A>T	c.(151-153)Aag>Tag	p.K51*	RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Nonsense_Mutation_p.K54*|CD300LF_ENST00000301573.9_Nonsense_Mutation_p.K51*|CD300LF_ENST00000581500.1_Nonsense_Mutation_p.K54*|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.K54*|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Nonsense_Mutation_p.K54*|CD300LF_ENST00000583937.1_Nonsense_Mutation_p.K51*|CD300LF_ENST00000469092.1_Nonsense_Mutation_p.K54*	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	51	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CACCACCACTTCAAGTAGGTC	0.532																																																	0													161.0	151.0	154.0					17																	72700848		2203	4300	6503	SO:0001587	stop_gained	146722			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.151A>T	17.37:g.72700848T>A	ENSP00000327075:p.Lys51*		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Nonsense_Mutation	SNP	ENST00000326165.6	37	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305232	0.81247	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	.	.	.	5.49	5.49	0.81192	.	0.108239	0.40554	N	0.001061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3964	0.60856	0.0:0.0:0.0:1.0	.	.	.	.	X	51;54;54;51	.	ENSP00000301573:K51X	K	-	1	0	CD300LF	70212443	0.998000	0.40836	0.680000	0.29994	0.566000	0.35808	4.265000	0.58865	2.208000	0.71279	0.533000	0.62120	AAG		0.532	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1		NM_139018	
CERCAM	51148	hgsc.bcm.edu	37	9	131185203	131185209	+	Frame_Shift_Del	DEL	CGGCTGT	CGGCTGT	-	rs111622564|rs201664355	byFrequency	TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	CGGCTGT	CGGCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr9:131185203_131185209delCGGCTGT	ENST00000372838.4	+	2	652_658	c.254_260delCGGCTGT	c.(253-261)gcggctgtgfs	p.AAV85fs	CERCAM_ENST00000372842.1_Frame_Shift_Del_p.AAV7fs	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	85					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAGTGGCTGGCGGCTGTGGGCGATGAC	0.623																																																	0																																										SO:0001589	frameshift_variant	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.254_260delCGGCTGT	9.37:g.131185203_131185209delCGGCTGT	ENSP00000361929:p.Ala85fs		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Frame_Shift_Del	DEL	ENST00000372838.4	37	CCDS6901.2																																																																																				0.623	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2		NM_016174	
CLK4	57396	hgsc.bcm.edu;ucsc.edu	37	5	178045711	178045711	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr5:178045711C>T	ENST00000316308.4	-	3	398	c.230G>A	c.(229-231)aGg>aAg	p.R77K	CLK4_ENST00000522749.1_5'UTR|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	77					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		GTAGTCATTCCTGTATTCGTC	0.408																																																	0													160.0	148.0	152.0					5																	178045711		2203	4300	6503	SO:0001583	missense	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.230G>A	5.37:g.178045711C>T	ENSP00000316948:p.Arg77Lys			Missense_Mutation	SNP	ENST00000316308.4	37	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370211	0.82573	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.08720	3.06	5.87	5.87	0.94306	.	0.162448	0.56097	D	0.000030	T	0.34919	0.0914	M	0.86953	2.85	0.80722	D	1	B;D;B;D;D	0.58268	0.018;0.982;0.062;0.982;0.982	B;D;B;D;D	0.67548	0.031;0.952;0.031;0.952;0.952	T	0.09079	-1.0691	10	0.72032	D	0.01	.	17.6873	0.88259	0.0:1.0:0.0:0.0	.	77;77;77;77;77	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	K	77	ENSP00000316948:R77K	ENSP00000316948:R77K	R	-	2	0	CLK4	177978317	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.056000	0.57448	2.779000	0.95612	0.591000	0.81541	AGG		0.408	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			
COL17A1	1308	hgsc.bcm.edu;ucsc.edu	37	10	105830254	105830254	+	Silent	SNP	G	G	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr10:105830254G>T	ENST00000353479.5	-	9	827	c.537C>A	c.(535-537)tcC>tcA	p.S179S	COL17A1_ENST00000393211.3_Silent_p.S179S|COL17A1_ENST00000369733.3_Silent_p.S179S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	179	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTGTGTTGGAGGAATTCCGGG	0.547																																																	0													143.0	131.0	135.0					10																	105830254		2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.537C>A	10.37:g.105830254G>T			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	CCDS7554.1																																																																																				0.547	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1		NM_130778, NM_000494	
CREB3L2	64764	hgsc.bcm.edu;ucsc.edu	37	7	137593138	137593138	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr7:137593138G>A	ENST00000330387.6	-	5	979	c.628C>T	c.(628-630)Cac>Tac	p.H210Y	CREB3L2_ENST00000456390.1_Missense_Mutation_p.H210Y	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	210					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCACTGCCGTGACTGCTCGGA	0.637			T	FUS	fibromyxoid sarcoma																																			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													26.0	28.0	27.0					7																	137593138		2023	3994	6017	SO:0001583	missense	64764			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.628C>T	7.37:g.137593138G>A	ENSP00000329140:p.His210Tyr		Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955062	0.53293	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.66638	0.19;-0.22	4.99	4.1	0.47936	.	0.302750	0.36519	N	0.002546	T	0.67163	0.2864	M	0.76838	2.35	0.80722	D	1	P;B	0.40107	0.703;0.128	B;B	0.43478	0.421;0.057	T	0.67780	-0.5582	10	0.02654	T	1	-9.1245	15.018	0.71600	0.0:0.0:0.8565:0.1435	.	210;210	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	Y	210	ENSP00000329140:H210Y;ENSP00000403550:H210Y	ENSP00000329140:H210Y	H	-	1	0	CREB3L2	137243678	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.169000	0.71913	1.203000	0.43233	0.563000	0.77884	CAC		0.637	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1		NM_194071	
DSN1	79980	hgsc.bcm.edu;ucsc.edu	37	20	35381212	35381212	+	Silent	SNP	A	A	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr20:35381212A>T	ENST00000426836.1	-	11	1422	c.1050T>A	c.(1048-1050)tcT>tcA	p.S350S	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Silent_p.S334S|DSN1_ENST00000373740.3_Silent_p.S278S|DSN1_ENST00000373750.4_Silent_p.S350S|DSN1_ENST00000373745.3_Silent_p.S350S|DSN1_ENST00000373734.4_Silent_p.S243S	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	350					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ATCCAGATCCAGATCCATGTA	0.493																																																	0													190.0	161.0	171.0					20																	35381212		2203	4300	6503	SO:0001819	synonymous_variant	79980			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.1050T>A	20.37:g.35381212A>T			B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Silent	SNP	ENST00000426836.1	37	CCDS13286.1																																																																																				0.493	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2		NM_024918	
ELOVL4	6785	hgsc.bcm.edu;ucsc.edu	37	6	80636042	80636043	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:80636042_80636043insTC	ENST00000369816.4	-	2	456_457	c.156_157insGA	c.(154-159)ataagcfs	p.S53fs		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	53					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.S53G(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TAAAGAGTGCTTATACTTAGTG	0.391																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.156_157insGA	6.37:g.80636042_80636043insTC	ENSP00000358831:p.Ser53fs		B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Frame_Shift_Ins	INS	ENST00000369816.4	37	CCDS4992.1																																																																																				0.391	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			
EMX1	2016	hgsc.bcm.edu;ucsc.edu	37	2	73161028	73161028	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr2:73161028G>A	ENST00000258106.6	+	3	1196	c.818G>A	c.(817-819)cGc>cAc	p.R273H	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	240					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						AACCGGTGGCGCATTGCCACG	0.577																																																	0													70.0	81.0	78.0					2																	73161028		2141	4249	6390	SO:0001583	missense	2016			X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.818G>A	2.37:g.73161028G>A	ENSP00000258106:p.Arg273His		Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982425	0.93044	.	.	ENSG00000135638	ENST00000258106	D	0.92299	-3.01	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	D	0.95827	0.8855	10	0.72032	D	0.01	-23.1708	16.7711	0.85537	0.0:0.0:1.0:0.0	.	240	Q04741	EMX1_HUMAN	H	273	ENSP00000258106:R273H	ENSP00000258106:R273H	R	+	2	0	EMX1	73014536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.635000	0.89317	0.484000	0.47621	CGC		0.577	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			
FLNA	2316	hgsc.bcm.edu;ucsc.edu	37	X	153583340	153583340	+	Silent	SNP	C	C	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chrX:153583340C>A	ENST00000369850.3	-	31	5306	c.5070G>T	c.(5068-5070)acG>acT	p.T1690T	FLNA_ENST00000422373.1_Silent_p.T1682T|FLNA_ENST00000344736.4_Silent_p.T1682T|FLNA_ENST00000360319.4_Silent_p.T1682T|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1690					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCCATCAGGCGTGCACACGG	0.592											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													60.0	63.0	62.0					X																	153583340		2178	4245	6423	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5070G>T	X.37:g.153583340C>A		1756	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																				0.592	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			
GALNT6	11226	hgsc.bcm.edu;ucsc.edu	37	12	51758021	51758021	+	Silent	SNP	G	G	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr12:51758021G>C	ENST00000543196.2	-	5	1138	c.933C>G	c.(931-933)ccC>ccG	p.P311P	GALNT6_ENST00000356317.3_Silent_p.P311P			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	311					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCTCTGGACGGGCTTGGCGA	0.577																																																	0													97.0	90.0	92.0					12																	51758021		2203	4300	6503	SO:0001819	synonymous_variant	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.933C>G	12.37:g.51758021G>C			Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	CCDS8813.1																																																																																				0.577	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1		NM_007210	
HMGXB4	10042	hgsc.bcm.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493																																																	0																																										SO:0001589	frameshift_variant	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1163delA	22.37:g.35661544delA	ENSP00000216106:p.Glu388fs		O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	CCDS33641.1																																																																																				0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2		NM_005487	
IGSF11	152404	hgsc.bcm.edu;ucsc.edu	37	3	118621765	118621765	+	Missense_Mutation	SNP	G	G	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr3:118621765G>T	ENST00000393775.2	-	7	1203	c.898C>A	c.(898-900)Cac>Aac	p.H300N	IGSF11_ENST00000425327.2_Missense_Mutation_p.H299N|IGSF11_ENST00000489689.1_Missense_Mutation_p.H276N|IGSF11_ENST00000354673.2_Missense_Mutation_p.H299N|IGSF11_ENST00000491903.1_Missense_Mutation_p.H272N|IGSF11_ENST00000441144.2_Missense_Mutation_p.H275N	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	300					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATCTCAGTGTGAAATGCTTTG	0.408																																																	0													107.0	112.0	110.0					3																	118621765		2198	4300	6498	SO:0001583	missense	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.898C>A	3.37:g.118621765G>T	ENSP00000377370:p.His300Asn		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922727	0.73213	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.83992	-0.9;-1.12;-1.79;-0.9;-1.73;-1.6	5.37	5.37	0.77165	.	0.045651	0.85682	D	0.000000	T	0.73536	0.3599	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P	0.41848	0.651;0.763;0.763;0.651;0.651	B;B;B;B;B	0.42282	0.212;0.382;0.382;0.212;0.212	T	0.71230	-0.4654	10	0.18710	T	0.47	.	18.2816	0.90099	0.0:0.0:1.0:0.0	.	272;275;299;276;300	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	N	299;300;276;299;275;272	ENSP00000406092:H299N;ENSP00000377370:H300N;ENSP00000420486:H276N;ENSP00000346700:H299N;ENSP00000401240:H275N;ENSP00000417413:H272N	ENSP00000346700:H299N	H	-	1	0	IGSF11	120104455	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.150000	0.94667	2.804000	0.96469	0.655000	0.94253	CAC		0.408	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			
IKZF3	22806	hgsc.bcm.edu;ucsc.edu	37	17	37948930	37948930	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr17:37948930A>T	ENST00000346872.3	-	4	481	c.420T>A	c.(418-420)caT>caA	p.H140Q	IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.H140Q|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000346243.3_Missense_Mutation_p.H140Q|IKZF3_ENST00000535189.1_Missense_Mutation_p.H106Q|IKZF3_ENST00000377945.3_Missense_Mutation_p.H140Q|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.H140Q|IKZF3_ENST00000351680.3_Missense_Mutation_p.H140Q|IKZF3_ENST00000439016.2_Missense_Mutation_p.H140Q|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.H106Q	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	140					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTACCAGTATGGCTTCGCT	0.408																																																	0													132.0	117.0	122.0					17																	37948930		2203	4300	6503	SO:0001583	missense	22806			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.420T>A	17.37:g.37948930A>T	ENSP00000344544:p.His140Gln		B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.9|21.9	4.218489|4.218489	0.79464|0.79464	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T|T	0.66995|0.01572	-0.24;1.59;-0.24;-0.24;-0.24;-0.24;-0.24|4.76	5.96|5.96	1.39|1.39	0.22231|0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|T	0.07818|0.07818	0.0196|0.0196	M|M	0.89658|0.89658	3.05|3.05	0.23445|0.23445	N|N	0.99767|0.99767	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.998;0.999;0.994;1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.974;0.997;0.988;0.996;0.988;0.998;0.997;1.0|.	T|T	0.04307|0.04307	-1.0961|-1.0961	10|6	0.87932|.	D|.	0|.	-19.1849|-19.1849	8.4684|8.4684	0.32971|0.32971	0.4671:0.0:0.5329:0.0|0.4671:0.0:0.5329:0.0	.|.	140;106;140;140;140;140;140;106;140|.	Q9UKT9-13;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	Q|K	140;140;140;106;140;140;140;140|94	ENSP00000344544:H140Q;ENSP00000367180:H140Q;ENSP00000438972:H106Q;ENSP00000345622:H140Q;ENSP00000341977:H140Q;ENSP00000344471:H140Q;ENSP00000420463:H140Q|ENSP00000403776:I94K	ENSP00000341977:H140Q|.	H|I	-|-	3|2	2|0	IKZF3|IKZF3	35202456|35202456	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.431000|0.431000	0.21444|0.21444	0.173000|0.173000	0.19788|0.19788	0.533000|0.533000	0.62120|0.62120	CAT|ATA		0.408	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2		NM_012481	
KIAA1244	57221	hgsc.bcm.edu	37	6	138584327	138584327	+	Silent	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:138584327C>T	ENST00000251691.4	+	12	1873	c.1707C>T	c.(1705-1707)gtC>gtT	p.V569V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCCACACGGTCCCTTACCCTG	0.507																																																	0													99.0	89.0	92.0					6																	138584327		2203	4300	6503	SO:0001819	synonymous_variant	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1707C>T	6.37:g.138584327C>T				Silent	SNP	ENST00000251691.4	37	CCDS5189.2																																																																																				0.507	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340	
KRT12	3859	hgsc.bcm.edu;ucsc.edu	37	17	39021185	39021185	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr17:39021185C>A	ENST00000251643.4	-	3	703	c.680G>T	c.(679-681)gGc>gTc	p.G227V	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	227	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GGCCTCTACGCCCTGGCGCAG	0.572																																																	0													76.0	75.0	75.0					17																	39021185		2203	4300	6503	SO:0001583	missense	3859				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.680G>T	17.37:g.39021185C>A	ENSP00000251643:p.Gly227Val		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	9.820	1.185594	0.21870	.	.	ENSG00000187242	ENST00000251643	D	0.88975	-2.45	5.96	-3.22	0.05125	Filament (1);	1.022420	0.07809	N	0.957847	T	0.80053	0.4553	L	0.35288	1.05	0.23913	N	0.996486	B	0.18013	0.025	B	0.18871	0.023	T	0.66093	-0.6009	10	0.59425	D	0.04	.	4.5256	0.11980	0.0822:0.4825:0.2325:0.2028	.	227	Q99456	K1C12_HUMAN	V	227	ENSP00000251643:G227V	ENSP00000251643:G227V	G	-	2	0	KRT12	36274711	0.298000	0.24417	0.000000	0.03702	0.126000	0.20510	1.192000	0.32150	-0.343000	0.08351	-0.165000	0.13383	GGC		0.572	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2		NM_000223	
KRT6A	3853	hgsc.bcm.edu	37	12	52881649	52881649	+	Missense_Mutation	SNP	T	T	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr12:52881649T>C	ENST00000330722.6	-	9	1618	c.1550A>G	c.(1549-1551)tAt>tGt	p.Y517C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	517	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCACTGCCATAGGAGTAGCT	0.617																																																	0													79.0	88.0	85.0					12																	52881649		2203	4300	6503	SO:0001583	missense	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1550A>G	12.37:g.52881649T>C	ENSP00000369317:p.Tyr517Cys		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	t	11.43	1.635460	0.29068	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.86164	-2.08	4.53	4.53	0.55603	.	0.000000	0.43260	D	0.000583	D	0.90532	0.7033	L	0.59436	1.845	0.36086	D	0.843155	D	0.76494	0.999	D	0.77557	0.99	D	0.91479	0.5203	10	0.37606	T	0.19	.	10.496	0.44777	0.0:0.0:0.0:1.0	.	517	P02538	K2C6A_HUMAN	C	517;473	ENSP00000369317:Y517C	ENSP00000369317:Y517C	Y	-	2	0	KRT6A	51167916	0.321000	0.24625	0.903000	0.35520	0.547000	0.35210	0.380000	0.20602	2.038000	0.60285	0.477000	0.44152	TAT		0.617	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2		NM_005554	
MAN1A1	4121	hgsc.bcm.edu;ucsc.edu	37	6	119623209	119623209	+	Missense_Mutation	SNP	T	T	G			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:119623209T>G	ENST00000368468.3	-	4	1201	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	MAN1A1_ENST00000368466.2_Missense_Mutation_p.K277Q	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	254					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			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)		AATTCATGTTTCATTTCCATA	0.279																																					Ovarian(136;8 1825 12608 33541 47587)												0													49.0	52.0	51.0					6																	119623209		2201	4281	6482	SO:0001583	missense	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.760A>C	6.37:g.119623209T>G	ENSP00000357453:p.Lys254Gln		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.546318	0.27652	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.73152	-0.72;-0.72	6.13	3.75	0.43078	.	0.576683	0.20926	N	0.083192	T	0.51109	0.1655	M	0.72118	2.19	0.36325	D	0.858472	B;B	0.21753	0.06;0.035	B;B	0.25759	0.063;0.01	T	0.43893	-0.9363	9	.	.	.	-24.3792	8.9418	0.35733	0.0:0.1563:0.0:0.8437	.	277;254	Q6P052;P33908	.;MA1A1_HUMAN	Q	254;277	ENSP00000357453:K254Q;ENSP00000357451:K277Q	.	K	-	1	0	MAN1A1	119664908	1.000000	0.71417	0.983000	0.44433	0.612000	0.37316	3.392000	0.52537	0.562000	0.29204	0.524000	0.50904	AAA		0.279	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1		NM_005907	
MAP3K15	389840	hgsc.bcm.edu;ucsc.edu	37	X	19398361	19398361	+	Missense_Mutation	SNP	G	G	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chrX:19398361G>C	ENST00000338883.4	-	19	2465	c.2466C>G	c.(2464-2466)gaC>gaG	p.D822E	MAP3K15_ENST00000359173.3_Missense_Mutation_p.D257E|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D654E|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GAGGCCCTTGGTCAATTATCT	0.532																																																	0													52.0	45.0	47.0					X																	19398361		2203	4300	6503	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2466C>G	X.37:g.19398361G>C	ENSP00000345629:p.Asp822Glu		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	G	12.77	2.038013	0.35989	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.64085	-0.08;-0.08;-0.08	5.68	-1.27	0.09347	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.093690	0.64402	D	0.000001	T	0.45074	0.1324	N	0.04724	-0.175	0.54753	D	0.999982	P;P	0.46621	0.881;0.85	P;P	0.49332	0.607;0.536	T	0.43278	-0.9401	10	0.51188	T	0.08	.	11.4589	0.50197	0.5622:0.0:0.4378:0.0	.	297;822	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	E	822;257;654	ENSP00000345629:D822E;ENSP00000352093:D257E;ENSP00000428356:D654E	ENSP00000345629:D822E	D	-	3	2	MAP3K15	19308282	0.509000	0.26163	0.001000	0.08648	0.100000	0.18952	-0.086000	0.11233	-0.569000	0.06030	-0.354000	0.07668	GAC		0.532	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001671	
MMP8	4317	hgsc.bcm.edu;ucsc.edu	37	11	102593358	102593358	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr11:102593358G>A	ENST00000236826.3	-	2	247	c.149C>T	c.(148-150)tCt>tTt	p.S50F		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	50					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.S50F(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CTTCCTTGTAGACTGATACTG	0.438																																																	1	Substitution - Missense(1)	skin(1)											134.0	130.0	131.0					11																	102593358		2203	4299	6502	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.149C>T	11.37:g.102593358G>A	ENSP00000236826:p.Ser50Phe		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	4.701	0.130400	0.08981	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.37411	1.2	5.92	1.47	0.22746	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	3.305230	0.00748	N	0.001054	T	0.23014	0.0556	N	0.16903	0.455	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.24119	-1.0169	10	0.02654	T	1	.	9.7368	0.40392	0.3474:0.0:0.6526:0.0	.	50;50	A8K9E4;P22894	.;MMP8_HUMAN	F	50;27	ENSP00000236826:S50F	ENSP00000236826:S50F	S	-	2	0	MMP8	102098568	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-2.687000	0.00833	0.399000	0.25367	0.655000	0.94253	TCT		0.438	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1		NM_002424	
MYL1	4632	hgsc.bcm.edu;ucsc.edu	37	2	211159133	211159133	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr2:211159133G>A	ENST00000352451.3	-	4	461	c.314C>T	c.(313-315)gCc>gTc	p.A105V	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.A61V	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	105					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.A105V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		AATTTTCTTGGCATTCAGCTC	0.378																																																	1	Substitution - Missense(1)	skin(1)											120.0	112.0	115.0					2																	211159133		2203	4300	6503	SO:0001583	missense	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.314C>T	2.37:g.211159133G>A	ENSP00000307280:p.Ala105Val		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374849	0.24857	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.79845	-1.31;-1.31	5.77	4.9	0.64082	EF-hand-like domain (1);	0.199640	0.56097	N	0.000029	T	0.70037	0.3178	L	0.33093	0.98	0.41689	D	0.98933	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.64219	-0.6459	10	0.10636	T	0.68	.	14.8789	0.70516	0.0687:0.0:0.9313:0.0	.	105;61	P05976;P05976-2	MYL1_HUMAN;.	V	61;105	ENSP00000343321:A61V;ENSP00000307280:A105V	ENSP00000343321:A61V	A	-	2	0	MYL1	210867378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.451000	0.44952	1.465000	0.48006	0.650000	0.86243	GCC		0.378	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2		NM_079420	
OR5T2	219464	hgsc.bcm.edu	37	11	55999588	55999588	+	Silent	SNP	T	T	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr11:55999588T>C	ENST00000313264.4	-	1	1149	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	358						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAATTTATTTTTTAGTATGAA	0.333																																																	0													12.0	12.0	12.0					11																	55999588		2104	4164	6268	SO:0001819	synonymous_variant	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.1074A>G	11.37:g.55999588T>C			B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	CCDS31523.1																																																																																				0.333	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1		NM_001004746	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52692298	52692298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr3:52692298G>A	ENST00000296302.7	-	5	563	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q188*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q188*			Q86U86	PB1_HUMAN	polybromo 1	188					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAGAAGCTGCTCCAGGATC	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													78.0	74.0	75.0					3																	52692298		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.562C>T	3.37:g.52692298G>A	ENSP00000296302:p.Gln188*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	33	5.235245	0.95207	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.3319	18.8333	0.92150	0.0:0.0:1.0:0.0	.	.	.	.	X	188;188;188;188;188;188;188;188;188;132;188	.	ENSP00000296302:Q188X	Q	-	1	0	PBRM1	52667338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.346000	0.79347	2.447000	0.82792	0.644000	0.83932	CAG		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PLG	5340	hgsc.bcm.edu;ucsc.edu	37	6	161139489	161139489	+	Splice_Site	SNP	G	G	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:161139489G>T	ENST00000308192.9	+	8	1013		c.e8+1			NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCTGCAAGTAAGTCCCCT	0.502																																																	0													102.0	109.0	106.0					6																	161139489		2203	4300	6503	SO:0001630	splice_region_variant	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.950+1G>T	6.37:g.161139489G>T			Q15146|Q5TEH4|Q6PA00	Splice_Site	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460008	0.84317	.	.	ENSG00000122194	ENST00000308192	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1034	0.89513	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLG	161059479	1.000000	0.71417	0.921000	0.36526	0.943000	0.58893	8.456000	0.90359	2.644000	0.89710	0.655000	0.94253	.		0.502	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2		NM_000301	Intron
PNCK	139728	hgsc.bcm.edu;ucsc.edu	37	X	152936428	152936428	+	Silent	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chrX:152936428G>A	ENST00000370150.1	-	9	929	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L	PNCK_ENST00000370145.4_Silent_p.L268L|PNCK_ENST00000340888.3_Silent_p.L251L|PNCK_ENST00000447676.2_Silent_p.L334L|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000393831.2_Silent_p.L274L|PNCK_ENST00000370142.1_Silent_p.L274L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGCTCCAGAAGGTGCCGG	0.652																																																	0													61.0	59.0	60.0					X																	152936428		2203	4300	6503	SO:0001819	synonymous_variant	139728			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.751C>T	X.37:g.152936428G>A			B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37																																																																																					0.652	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2		NM_198452	
PSKH1	5681	hgsc.bcm.edu;ucsc.edu	37	16	67942857	67942857	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr16:67942857G>A	ENST00000291041.5	+	2	375	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	69						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CCCGACTGCTGGCCACACGGA	0.592																																																	0													65.0	57.0	59.0					16																	67942857		2198	4300	6498	SO:0001583	missense	5681			M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.205G>A	16.37:g.67942857G>A	ENSP00000291041:p.Gly69Ser		Q9NY19	Missense_Mutation	SNP	ENST00000291041.5	37	CCDS10851.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830925	0.32329	.	.	ENSG00000159792	ENST00000291041	T	0.67345	-0.26	5.59	2.12	0.27331	.	0.559474	0.19131	N	0.121924	T	0.53061	0.1773	L	0.34521	1.04	0.32148	N	0.584662	B	0.02656	0.0	B	0.04013	0.001	T	0.56245	-0.8011	10	0.34782	T	0.22	-10.9118	12.0848	0.53691	0.2249:0.0:0.7751:0.0	.	69	P11801	KPSH1_HUMAN	S	69	ENSP00000291041:G69S	ENSP00000291041:G69S	G	+	1	0	PSKH1	66500358	0.009000	0.17119	0.804000	0.32291	0.561000	0.35649	0.790000	0.26900	0.738000	0.32606	0.655000	0.94253	GGC		0.592	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3		NM_006742	
PSMA6	5687	hgsc.bcm.edu;ucsc.edu	37	14	35777217	35777217	+	Missense_Mutation	SNP	A	A	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr14:35777217A>C	ENST00000261479.4	+	2	214	c.94A>C	c.(94-96)Att>Ctt	p.I32L	PSMA6_ENST00000553809.1_Missense_Mutation_p.I32L|PSMA6_ENST00000540871.1_Missense_Mutation_p.I13L|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.I32L	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTTTAAGGCTATTAACCAGGG	0.343																																																	0													73.0	71.0	71.0					14																	35777217		2203	4300	6503	SO:0001583	missense	5687			X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.94A>C	14.37:g.35777217A>C	ENSP00000261479:p.Ile32Leu		B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Missense_Mutation	SNP	ENST00000261479.4	37	CCDS9655.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312693	0.81358	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000556506	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	M	0.89163	3.01	0.80722	D	1	B	0.11235	0.004	B	0.38655	0.278	T	0.65327	-0.6195	10	0.72032	D	0.01	-3.0853	15.5765	0.76392	1.0:0.0:0.0:0.0	.	32	P60900	PSA6_HUMAN	L	13;32;32;32	ENSP00000444844:I13L;ENSP00000261479:I32L;ENSP00000452603:I32L;ENSP00000450528:I32L	ENSP00000261479:I32L	I	+	1	0	PSMA6	34846968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.216000	0.95154	2.131000	0.65755	0.533000	0.62120	ATT		0.343	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			
QTRT1	81890	hgsc.bcm.edu	37	19	10818183	10818183	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr19:10818183C>T	ENST00000250237.5	+	5	548	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	180					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAGGTCAATCCGCTGGCTGGA	0.642																																																	0													60.0	56.0	57.0					19																	10818183		2203	4300	6503	SO:0001583	missense	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.538C>T	19.37:g.10818183C>T	ENSP00000250237:p.Arg180Cys		B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	CCDS12248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.589743|3.589743	0.66105|0.66105	.|.	.|.	ENSG00000213339|ENSG00000213339	ENST00000421333|ENST00000250237	.|.	.|.	.|.	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	.|0.000000	.|0.64402	.|U	.|0.000003	D|D	0.88269|0.88269	0.6391|0.6391	H|H	0.98525|0.98525	4.255|4.255	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	D|D	0.92418|0.92418	0.5943|0.5943	6|9	0.72032|0.87932	D|D	0.01|0	-4.565|-4.565	14.2277|14.2277	0.65871|0.65871	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|180	.|Q9BXR0	.|TGT_HUMAN	L|C	191|180	.|.	ENSP00000389126:P191L|ENSP00000250237:R180C	P|R	+|+	2|1	0|0	QTRT1|QTRT1	10679183|10679183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	7.036000|7.036000	0.76524|0.76524	2.346000|2.346000	0.79739|0.79739	0.549000|0.549000	0.68633|0.68633	CCG|CGC		0.642	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1		NM_031209	
RBM15	64783	hgsc.bcm.edu;ucsc.edu	37	1	110888165	110888165	+	Silent	SNP	T	T	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr1:110888165T>C	ENST00000369784.3	+	2	3768	c.2868T>C	c.(2866-2868)ttT>ttC	p.F956F	RBM15_ENST00000487146.2_Intron	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	956	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCACAGGGTTTGGTTTTCAGA	0.393			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													157.0	174.0	168.0					1																	110888165		2203	4300	6503	SO:0001819	synonymous_variant	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2868T>C	1.37:g.110888165T>C			A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	CCDS822.1																																																																																				0.393	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768	
SACS	26278	hgsc.bcm.edu;ucsc.edu	37	13	23906942	23906942	+	Silent	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr13:23906942G>A	ENST00000382292.3	-	9	11346	c.11073C>T	c.(11071-11073)ttC>ttT	p.F3691F	SACS_ENST00000382298.3_Silent_p.F3691F|SACS_ENST00000402364.1_Silent_p.F2941F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3691					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACATTGCTTGAATTTTGGAT	0.418																																																	0													118.0	110.0	113.0					13																	23906942		2203	4300	6503	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11073C>T	13.37:g.23906942G>A			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.418	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363	
SLCO1B3	28234	hgsc.bcm.edu;ucsc.edu	37	12	21014049	21014049	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr12:21014049C>T	ENST00000381545.3	+	6	677	c.458C>T	c.(457-459)aCa>aTa	p.T153I	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T153I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.T153I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T153I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	153					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCAATGGAACATCACCTGAG	0.274																																																	0													48.0	48.0	48.0					12																	21014049		2196	4278	6474	SO:0001583	missense	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.458C>T	12.37:g.21014049C>T	ENSP00000370956:p.Thr153Ile		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	C	8.927	0.962529	0.18583	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000540229	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	3.53	1.55	0.23275	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.284167	0.28431	N	0.015377	T	0.34250	0.0891	L	0.59912	1.85	0.09310	N	1	B;B	0.31153	0.31;0.003	B;B	0.33799	0.17;0.05	T	0.17684	-1.0361	10	0.42905	T	0.14	.	5.3519	0.16040	0.2325:0.5412:0.2263:0.0	.	153;153	Q5JAR4;Q9NPD5	.;SO1B3_HUMAN	I	153	ENSP00000442000:T153I;ENSP00000261196:T153I;ENSP00000370956:T153I;ENSP00000451758:T153I;ENSP00000441269:T153I	ENSP00000441269:T153I	T	+	2	0	SLCO1B3;RP11-545J16.1	20905316	0.000000	0.05858	0.019000	0.16419	0.035000	0.12851	0.647000	0.24812	1.810000	0.52873	0.467000	0.42956	ACA		0.274	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1		NM_019844	
SUGT1	10910	hgsc.bcm.edu;ucsc.edu	37	13	53239772	53239772	+	Splice_Site	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr13:53239772G>A	ENST00000343788.6	+	10	601	c.519G>A	c.(517-519)aaG>aaA	p.K173K	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Splice_Site_p.K141K|SUGT1_ENST00000535397.1_Splice_Site_p.K85K	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	173	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TTTTTAATAGGTATGACTGGT	0.308																																																	0													54.0	57.0	56.0					13																	53239772		2199	4290	6489	SO:0001630	splice_region_variant	10910			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.519-1G>A	13.37:g.53239772G>A			A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Silent	SNP	ENST00000343788.6	37	CCDS45050.1																																																																																				0.308	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			Silent
SYNE1	23345	hgsc.bcm.edu;ucsc.edu	37	6	152470618	152470618	+	Silent	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:152470618G>A	ENST00000367255.5	-	136	25237	c.24636C>T	c.(24634-24636)cgC>cgT	p.R8212R	SYNE1_ENST00000354674.4_Silent_p.R367R|SYNE1_ENST00000423061.1_Silent_p.R8141R|SYNE1_ENST00000539504.1_Silent_p.R367R|SYNE1_ENST00000448038.1_Silent_p.R8141R|SYNE1_ENST00000356820.4_Silent_p.R2736R|SYNE1_ENST00000265368.4_Silent_p.R8212R|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.R7824R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8212					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATACAGGCAGGCGGATCAGTT	0.463										HNSCC(10;0.0054)																																							0													86.0	82.0	83.0					6																	152470618		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24636C>T	6.37:g.152470618G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TM2D2	83877	hgsc.bcm.edu;ucsc.edu	37	8	38853913	38853913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr8:38853913G>A	ENST00000456397.2	-	1	139	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	ADAM9_ENST00000481513.1_5'Flank|TM2D2_ENST00000456845.2_Intron|ADAM9_ENST00000487273.2_5'Flank|TM2D2_ENST00000412303.1_Intron|ADAM9_ENST00000466936.1_5'Flank|TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000522434.1_Intron	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	16						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AAAGCCGCCTGGCCGCACAGA	0.612																																																	0													84.0	87.0	86.0					8																	38853913		2203	4300	6503	SO:0001587	stop_gained	83877			AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.46C>T	8.37:g.38853913G>A	ENSP00000416050:p.Gln16*		B2RBK4|D3DSX8|Q8N0X9	Nonsense_Mutation	SNP	ENST00000456397.2	37	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	G	38	7.025518	0.98010	.	.	ENSG00000169490	ENST00000456397	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-14.1054	19.5973	0.95546	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000416050:Q16X	Q	-	1	0	TM2D2	38973070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.738000	0.93877	0.655000	0.94253	CAG		0.612	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1		NM_031940	
TNFRSF13B	23495	hgsc.bcm.edu;ucsc.edu	37	17	16852092	16852092	+	Missense_Mutation	SNP	C	C	G			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr17:16852092C>G	ENST00000261652.2	-	3	417	c.405G>C	c.(403-405)agG>agC	p.R135S	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.R89S|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.R89S|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.R135S	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	135					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						ATCCTTGGTACCTTCCCGAGT	0.542									IgA Deficiency, Selective																																								0													203.0	173.0	183.0					17																	16852092		2203	4300	6503	SO:0001583	missense	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.405G>C	17.37:g.16852092C>G	ENSP00000261652:p.Arg135Ser		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	3.990	-0.004584	0.07773	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.93906	-3.31;-3.21	4.37	2.19	0.27852	.	0.237338	0.27504	N	0.019062	D	0.90177	0.6930	M	0.61703	1.905	0.34627	D	0.719165	B;B;B	0.30851	0.02;0.297;0.197	B;B;B	0.28784	0.01;0.094;0.043	D	0.88489	0.3074	10	0.32370	T	0.25	-12.7706	11.6922	0.51523	0.0:0.7332:0.2668:0.0	.	135;89;135	B7Z6V8;O14836-2;O14836	.;.;TR13B_HUMAN	S	89;135	ENSP00000413453:R89S;ENSP00000261652:R135S	ENSP00000261652:R135S	R	-	3	2	TNFRSF13B	16792817	0.046000	0.20272	0.783000	0.31826	0.099000	0.18886	0.004000	0.13106	0.537000	0.28751	0.603000	0.83216	AGG		0.542	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			
TREML2	79865	hgsc.bcm.edu;ucsc.edu	37	6	41162231	41162231	+	Silent	SNP	C	C	T	rs372822570	byFrequency	TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr6:41162231C>T	ENST00000483722.1	-	3	902	c.717G>A	c.(715-717)tcG>tcA	p.S239S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	239					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTGTGGTGGGCGATCTGGTGC	0.617													C|||	6	0.00119808	0.0	0.0	5008	,	,		14953	0.0		0.0	False		,,,				2504	0.0061																0								C		0,4406		0,0,2203	82.0	84.0	83.0		717	-4.5	0.0	6		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TREML2	NM_024807.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		239/322	41162231	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.717G>A	6.37:g.41162231C>T			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	CCDS4853.2																																																																																				0.617	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3		NM_024807	
VPS13A	23230	hgsc.bcm.edu;ucsc.edu	37	9	79897064	79897064	+	Missense_Mutation	SNP	T	T	G			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr9:79897064T>G	ENST00000360280.3	+	29	3252	c.2992T>G	c.(2992-2994)Tta>Gta	p.L998V	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.L998V|VPS13A_ENST00000376636.3_Missense_Mutation_p.L998V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L998V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	998					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGATATTCATTTACACACTGA	0.363																																																	0													79.0	85.0	83.0					9																	79897064		2203	4296	6499	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2992T>G	9.37:g.79897064T>G	ENSP00000353422:p.Leu998Val		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635253	0.67130	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000005	T	0.40145	0.1105	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.994;0.999;0.999	T	0.35968	-0.9767	10	0.13108	T	0.6	.	9.1396	0.36894	0.0:0.0832:0.0:0.9168	.	998;998;998;998	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	998	ENSP00000365821:L998V;ENSP00000365823:L998V;ENSP00000353422:L998V;ENSP00000349985:L998V	ENSP00000349985:L998V	L	+	1	2	VPS13A	79086884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.640000	0.46579	1.914000	0.55421	0.460000	0.39030	TTA		0.363	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186	
DAW1	164781	hgsc.bcm.edu;ucsc.edu	37	2	228758531	228758531	+	Missense_Mutation	SNP	A	A	C			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr2:228758531A>C	ENST00000309931.2	+	5	421	c.338A>C	c.(337-339)gAt>gCt	p.D113A	DAW1_ENST00000545118.1_Missense_Mutation_p.D98A|DAW1_ENST00000373666.2_Missense_Mutation_p.D113A|DAW1_ENST00000472604.1_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	113						cilium (GO:0005929)											GGAAGCTATGATCGGACGTGC	0.453																																																	0													107.0	96.0	100.0					2																	228758531		2203	4300	6503	SO:0001583	missense	164781				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.338A>C	2.37:g.228758531A>C	ENSP00000311899:p.Asp113Ala		Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834566	0.71373	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	D;D;D	0.89343	-2.5;-2.5;-2.5	5.74	5.74	0.90152	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	D	0.96278	0.8786	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97403	0.9997	10	0.72032	D	0.01	.	14.8638	0.70399	1.0:0.0:0.0:0.0	.	113	Q8N136	WDR69_HUMAN	A	113;113;98	ENSP00000362770:D113A;ENSP00000311899:D113A;ENSP00000437887:D98A	ENSP00000311899:D113A	D	+	2	0	WDR69	228466775	1.000000	0.71417	0.603000	0.28903	0.435000	0.31806	8.194000	0.89721	2.174000	0.68829	0.528000	0.53228	GAT		0.453	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1		NM_178821	
ZNF540	163255	hgsc.bcm.edu;ucsc.edu	37	19	38103228	38103228	+	Silent	SNP	T	T	C	rs544295776		TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr19:38103228T>C	ENST00000592533.1	+	5	1379	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	ZNF540_ENST00000316433.4_Silent_p.H349H|ZNF540_ENST00000589117.1_Silent_p.H317H|ZNF540_ENST00000343599.5_Silent_p.H349H	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	349					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAAATTCATACTGGTGTAA	0.383													T|||	1	0.000199681	0.0	0.0	5008	,	,		19445	0.001		0.0	False		,,,				2504	0.0																0													70.0	68.0	68.0					19																	38103228		2203	4300	6503	SO:0001819	synonymous_variant	163255			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1047T>C	19.37:g.38103228T>C			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	CCDS12506.1																																																																																				0.383	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1		NM_152606	
ZNF606	80095	hgsc.bcm.edu;ucsc.edu	37	19	58490014	58490014	+	Missense_Mutation	SNP	T	T	A			TCGA-DV-5566-01A-01D-1534-10	TCGA-DV-5566-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	39a321cd-dbdf-474b-aead-6e69795470e0	cef01d29-8954-400d-b504-33ce7cc529ab	g.chr19:58490014T>A	ENST00000341164.4	-	7	2654	c.2034A>T	c.(2032-2034)aaA>aaT	p.K678N	ZNF606_ENST00000536132.1_Missense_Mutation_p.K588N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	678					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		ATTTATAGGGTTTCTCACCAG	0.413																																																	0													88.0	85.0	86.0					19																	58490014		2203	4300	6503	SO:0001583	missense	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2034A>T	19.37:g.58490014T>A	ENSP00000343617:p.Lys678Asn		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359135	0.41801	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.26067	1.76;1.76	4.43	-2.66	0.06077	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.141097	0.32593	N	0.005881	T	0.43144	0.1234	M	0.68728	2.09	0.43890	D	0.996514	D	0.89917	1.0	D	0.79108	0.992	T	0.24835	-1.0149	10	0.62326	D	0.03	.	12.8533	0.57871	0.0:0.5855:0.0:0.4145	.	678	Q8WXB4	ZN606_HUMAN	N	678;588	ENSP00000343617:K678N;ENSP00000445624:K588N	ENSP00000343617:K678N	K	-	3	2	ZNF606	63181826	0.000000	0.05858	0.965000	0.40720	0.989000	0.77384	-1.175000	0.03102	-0.833000	0.04245	-0.441000	0.05720	AAA		0.413	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1		NM_025027	
