#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_Annotation_Transcript	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_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_Description	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_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Region	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
LYRM9	201229	broad.mit.edu	37	17	26207284	26207284	+	Intron	SNP	G	G	C	rs561448562		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr17:26207284G>C	ENST00000379103.3	-	4	508				LYRM9_ENST00000460380.2_Missense_Mutation_p.L79V|RP11-138P22.1_ENST00000581901.1_RNA|LYRM9_ENST00000508862.1_Intron|LYRM9_ENST00000503642.1_Missense_Mutation_p.L79V|LYRM9_ENST00000379102.3_Intron|RP1-66C13.4_ENST00000582441.1_Intron	NM_001076680.1	NP_001070148.1	A8MSI8	LYRM9_HUMAN	LYR motif containing 9																		GCAGAGCCCAGGGGCCAAGCA	0.532											OREG0024270	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		18487	0.0		0.0	False		,,,				2504	0.001					ENST00000460380.2											0										c.(235-237)Ctg>Gtg	LYR motif containing 9						63.0	73.0	70.0					17																	26207284		2058	4217	6275	SO:0001627	intron_variant	201229						g.chr17:26207284G>C	BC018092	BC018092	CCDS45631.1	CCDS45631.1	17q11.2	2014-06-05	2012-10-23	2012-10-23	2014-06-05	2012-10-23	2012-10-23	ENSG00000232859	ENSG00000232859	ENSG00000232859	ENSG00000232859		"""LYR motif containing"""	"""LYR motif containing"""	27314	27314	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 17 open reading frame 108"""	C17orf108	"""chromosome 17 open reading frame 108"""	C17orf108		12477932	12477932	Standard	Standard	NM_001076680	NM_001076680		Approved	HSD24	uc002gzx.3	uc002gzx.3	A8MSI8	A8MSI8	OTTHUMG00000132829	OTTHUMG00000132829	ENST00000379103.3:c.219+15C>G	17.37:g.26207284G>C		784	LYRM9_ENST00000379102.3_Intron|RP11-138P22.1_ENST00000581901.1_RNA|LYRM9_ENST00000508862.1_Intron|RP1-66C13.4_ENST00000582441.1_Intron|LYRM9_ENST00000503642.1_Missense_Mutation_p.L79V|LYRM9_ENST00000379103.3_Intron	p.L79V							3	295	-					A6NJT7|Q6X7B8	Missense_Mutation	SNP	ENST00000379103.3	37	c.235C>G	CCDS45631.1	.	.	.	.	.	.	.	.	.	.	G	7.191	0.591509	0.13812	.	.	ENSG00000232859	ENST00000503642	.	.	.	4.55	3.33	0.38152	4.55	3.33	0.38152	.	.	.	.	.	T	0.31513	0.0799	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.18524	-1.0334	7	0.87932	D	0	.	8.4321	0.32764	0.1295:0.0:0.8705:0.0	.	88	D6RAR2	.	V	88	.	ENSP00000421807:L88V	L	-	1	2	2	C17orf108	23231411	23231411	0.001000	0.12720	0.003000	0.11579	0.009000	0.06853	0.423000	0.21313	2.075000	0.62263	0.655000	0.94253	CTG		0.532	LYRM9-001	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256294.3		10.125106	-2	-2	10	10	NM_001076680		3	10.125106	10.125106	3	0.500000	0	0	0	1	0	3	3	0.5
RECQL5	9400	broad.mit.edu	37	17	73623546	73623546	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr17:73623546C>T	ENST00000317905.5	-	20	3091	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	RECQL5_ENST00000423245.2_Missense_Mutation_p.E951K|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	978					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTTCGCTCTCGCACCGGGCC	0.622								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5											0			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(2932-2934)Gag>Aag	RecQ protein-like 5						69.0	79.0	76.0					17																	73623546		2033	4176	6209	SO:0001583	missense	9400			DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73623546C>T	AB006533	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469	ENSG00000108469	ENSG00000108469				9950	9950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RecQ protein 5"""	"""RecQ protein 5"""	603781	603781						9878247	9878247	Standard	Standard	NM_004259	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	uc010dgl.3	O94762	O94762			ENST00000317905.5:c.2932G>A	17.37:g.73623546C>T	ENSP00000317636:p.Glu978Lys		RECQL5_ENST00000423245.2_Missense_Mutation_p.E951K|RECQL5_ENST00000443199.2_5'UTR	p.E978K	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	3091	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		978		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2932G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501993	0.64298	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.61510	0.1	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.945;0.967;0.999	T	0.76958	-0.2766	10	0.56958	D	0.05	-30.6965	18.7978	0.92003	0.0:1.0:0.0:0.0	.	978;951;174	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	K	573;978;978	ENSP00000317636:E978K	ENSP00000317636:E978K	E	-	1	0	0	RECQL5	71135141	71135141	1.000000	0.71417	0.968000	0.41197	0.841000	0.47740	6.362000	0.73077	2.447000	0.82792	0.563000	0.77884	GAG		0.622	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		45.045476	-24	-24	101	101	NM_004259		17	48.559916	48.559916	49	0.257576	0	0	0	1	0	17	49	0.257576
SEL1L3	23231	broad.mit.edu	37	4	25819797	25819797	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr4:25819797G>C	ENST00000399878.3	-	9	1649	c.1527C>G	c.(1525-1527)agC>agG	p.S509R	SEL1L3_ENST00000502949.1_Missense_Mutation_p.S356R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S474R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	509						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCTGGAACAAGCTGGGGTGTT	0.537																																						ENST00000399878.3											0			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(1525-1527)agC>agG	sel-1 suppressor of lin-12-like 3 (C. elegans)						72.0	74.0	73.0					4																	25819797		1965	4159	6124	SO:0001583	missense	23231				integral to membrane	binding	g.chr4:25819797G>C	BC009945	BC009945	CCDS47037.1, CCDS75113.1	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			2009-09-24			ENSG00000091490	ENSG00000091490	ENSG00000091490	ENSG00000091490				29108	29108	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""KIAA0746 protein"""	"""KIAA0746 protein"""								9872452	9872452	Standard	Standard	XM_005248143	XM_005248143		Approved	KIAA0746	uc003gru.4	uc003gru.4	Q68CR1	Q68CR1	OTTHUMG00000160331	OTTHUMG00000160331	ENST00000399878.3:c.1527C>G	4.37:g.25819797G>C	ENSP00000382767:p.Ser509Arg		SEL1L3_ENST00000502949.1_Missense_Mutation_p.S356R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S474R	p.S509R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			9	1649	-			509		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1527C>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485927	0.26686	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.14391	2.7;2.72;2.51	5.95	2.91	0.33838	5.95	2.91	0.33838	.	0.523323	0.23881	N	0.043648	T	0.11239	0.0274	L	0.51422	1.61	0.09310	N	1	B	0.28552	0.215	B	0.23275	0.045	T	0.21965	-1.0230	10	0.25106	T	0.35	-7.5726	8.2079	0.31467	0.281:0.0:0.719:0.0	.	509	Q68CR1	SE1L3_HUMAN	R	509;474;356	ENSP00000382767:S509R;ENSP00000264868:S474R;ENSP00000425438:S356R	ENSP00000264868:S474R	S	-	3	2	2	SEL1L3	25428895	25428895	0.669000	0.27502	0.082000	0.20525	0.513000	0.34164	0.845000	0.27668	0.867000	0.35654	0.655000	0.94253	AGC		0.537	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		16.175053	-3	-3	16	16	NM_015187		5	16.175053	16.175053	5	0.500000	0	0	0	1	0	5	5	0.5
STIP1	10963	broad.mit.edu	37	11	63971545	63971545	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr11:63971545A>G	ENST00000305218.4	+	14	1726	c.1579A>G	c.(1579-1581)Ata>Gta	p.I527V	FERMT3_ENST00000279227.5_5'Flank|FERMT3_ENST00000345728.5_5'Flank|STIP1_ENST00000538945.1_Missense_Mutation_p.I503V|STIP1_ENST00000358794.5_Missense_Mutation_p.I574V	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	527	STI1 2.				response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAATCCTGTAATAGCACAGAA	0.463																																						ENST00000358794.5											0			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(1720-1722)Ata>Gta	stress-induced-phosphoprotein 1						151.0	138.0	143.0					11																	63971545		2201	4297	6498	SO:0001583	missense	10963			axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63971545A>G	BC039299	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439	ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	"""Tetratricopeptide (TTC) repeat domain containing"""	11387	11387	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	"""Hsp70/Hsp90-organizing protein"""	605063	605063	"""stress-induced-phosphoprotein 1"""		"""stress-induced-phosphoprotein 1"""			1569099	1569099	Standard	Standard	NM_006819	NM_006819		Approved	HOP, STI1	uc001nyk.1	uc001nyk.1	P31948	P31948	OTTHUMG00000167789	OTTHUMG00000167789	ENST00000305218.4:c.1579A>G	11.37:g.63971545A>G	ENSP00000305958:p.Ile527Val		STIP1_ENST00000305218.4_Missense_Mutation_p.I527V|STIP1_ENST00000538945.1_Missense_Mutation_p.I503V	p.I574V	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN			14	2273	+			527		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.1720A>G	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734688	0.30774	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	T;T;T	0.11495	2.77;3.04;2.81	5.34	5.34	0.76211	5.34	5.34	0.76211	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.07908	0.0198	N	0.12182	0.205	0.80722	D	1	P;B	0.39862	0.692;0.391	B;B	0.42495	0.389;0.13	T	0.43861	-0.9365	10	0.11794	T	0.64	-25.6402	14.599	0.68427	1.0:0.0:0.0:0.0	.	503;527	F5H0T1;P31948	.;STIP1_HUMAN	V	574;527;503	ENSP00000351646:I574V;ENSP00000305958:I527V;ENSP00000445957:I503V	ENSP00000305958:I527V	I	+	1	0	0	STIP1	63728121	63728121	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.196000	0.89725	2.164000	0.68074	0.459000	0.35465	ATA		0.463	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2		104.982074	-3	-3	112	112	NM_006819		32	106.119576	106.119576	53	0.376471	0	0	0	1	0	32	53	0.376471
KAT6A	7994	broad.mit.edu	37	8	41790274	41790274	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr8:41790274T>C	ENST00000396930.3	-	18	6007	c.5464A>G	c.(5464-5466)Aac>Gac	p.N1822D	KAT6A_ENST00000265713.2_Missense_Mutation_p.N1822D|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1822D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1822					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GATGTGAGGTTCATGGTAGTG	0.542																																						ENST00000396930.3											0										c.(5464-5466)Aac>Gac	K(lysine) acetyltransferase 6A						187.0	168.0	175.0					8																	41790274		2203	4300	6503	SO:0001583	missense	7994			histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790274T>C	U47742	U47742	CCDS6124.1	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	13013	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	"""Monocytic leukemia zinc finger protein"""	601408	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	8849440, 8782817	Standard	Standard	NM_001099412	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	uc003xon.4	Q92794	Q92794	OTTHUMG00000150453	OTTHUMG00000150453	ENST00000396930.3:c.5464A>G	8.37:g.41790274T>C	ENSP00000380136:p.Asn1822Asp		KAT6A_ENST00000265713.2_Missense_Mutation_p.N1822D|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1822D	p.N1822D	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	6007	-			1822		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.5464A>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268958	0.23221	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.68624	-0.34;-0.34;-0.34	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.57873	0.2083	L	0.27053	0.805	0.58432	D	0.999993	P	0.52316	0.952	B	0.43194	0.411	T	0.63866	-0.6540	10	0.59425	D	0.04	-22.8583	15.9132	0.79488	0.0:0.0:0.0:1.0	.	1822	Q92794	KAT6A_HUMAN	D	1822	ENSP00000265713:N1822D;ENSP00000385888:N1822D;ENSP00000380136:N1822D	ENSP00000265713:N1822D	N	-	1	0	0	KAT6A	41909431	41909431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.542000	0.82095	2.148000	0.66965	0.533000	0.62120	AAC		0.542	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		93.568160	-13	-13	70	70	NM_006766		29	93.732144	93.732144	36	0.446154	0	0	0	1	0	29	36	0.446154
SLC19A1	6573	broad.mit.edu	37	21	46950865	46950865	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr21:46950865C>T	ENST00000311124.4	-	4	1122	c.970G>A	c.(970-972)Gcg>Acg	p.A324T	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A284T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A324T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A324T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	324					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	ACGAAGCCCGCGGCGAAGGAC	0.711																																						ENST00000311124.4											0			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(970-972)Gcg>Acg	solute carrier family 19 (folate transporter), member 1						14.0	14.0	14.0					21																	46950865		2191	4272	6463	SO:0001583	missense	6573			folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950865C>T	U15939	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			2013-05-22			ENSG00000173638	ENSG00000173638	ENSG00000173638	ENSG00000173638		"""Solute carriers"""	"""Solute carriers"""	10937	10937	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600424	600424						9570943	9570943	Standard	Standard	NM_194255	NM_194255		Approved	FOLT	uc002zhl.2	uc002zhl.2	P41440	P41440	OTTHUMG00000090397	OTTHUMG00000090397	ENST00000311124.4:c.970G>A	21.37:g.46950865C>T	ENSP00000308895:p.Ala324Thr		SLC19A1_ENST00000380010.4_Missense_Mutation_p.A324T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A324T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A284T	p.A324T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	4	1122	-			324		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.970G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	c	19.41	3.823174	0.71143	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.81908	-1.55;-1.55;-1.55	4.16	4.16	0.48862	4.16	4.16	0.48862	Major facilitator superfamily domain, general substrate transporter (1);	0.056197	0.64402	N	0.000001	D	0.90532	0.7033	M	0.76938	2.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.997;1.0;0.997	D	0.91568	0.5269	10	0.56958	D	0.05	-35.1012	15.397	0.74805	0.0:1.0:0.0:0.0	.	284;346;324;324	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	71;324;324;284	ENSP00000308895:A324T;ENSP00000369347:A324T;ENSP00000441772:A284T	ENSP00000308895:A324T	A	-	1	0	0	SLC19A1	45775293	45775293	1.000000	0.71417	0.295000	0.24960	0.199000	0.23934	6.964000	0.76061	2.034000	0.60081	0.289000	0.19496	GCG		0.711	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1		2.703999	-1	-1	32	32			3	7.244018	7.244018	26	0.103448	0	0	0	1	0	3	26	0.103448
LRRC16A	55604	broad.mit.edu	37	6	25500413	25500413	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr6:25500413G>C	ENST00000329474.6	+	17	1713	c.1345G>C	c.(1345-1347)Gct>Cct	p.A449P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	449					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATTGGGCCTGGCTTGTAATCA	0.428																																						ENST00000329474.6											0			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1345-1347)Gct>Cct	leucine rich repeat containing 16A						157.0	144.0	148.0					6																	25500413		1893	4121	6014	SO:0001583	missense	55604			actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25500413G>C	AK000055	AK000055	CCDS54973.1	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691	ENSG00000079691	ENSG00000079691				21581	21581	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	609593	"""leucine rich repeat containing 16"""	LRRC16	"""leucine rich repeat containing 16"""	LRRC16		19846667	19846667	Standard	Standard	NM_017640	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	uc011djw.2	Q5VZK9	Q5VZK9	OTTHUMG00000014393	OTTHUMG00000014393	ENST00000329474.6:c.1345G>C	6.37:g.25500413G>C	ENSP00000331983:p.Ala449Pro			p.A449P	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			17	1713	+			449		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1345G>C	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291781	0.80914	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54866	0.55	5.37	3.55	0.40652	5.37	3.55	0.40652	.	0.049679	0.85682	D	0.000000	T	0.57710	0.2072	M	0.83483	2.645	0.80722	D	1	D;D;D	0.63880	0.977;0.993;0.987	P;P;P	0.57960	0.83;0.83;0.799	T	0.63120	-0.6708	10	0.54805	T	0.06	.	10.4624	0.44587	0.0699:0.0:0.7959:0.1342	.	449;449;449	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	P	449	ENSP00000331983:A449P	ENSP00000331983:A449P	A	+	1	0	0	LRRC16A	25608392	25608392	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.410000	0.66381	0.716000	0.32124	0.563000	0.77884	GCT		0.428	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		43.375143	9	9	39	39	NM_017640		13	43.383791	43.383791	12	0.520000	0	0	0	1	0	13	12	0.52
ZNF680	340252	broad.mit.edu	37	7	64004737	64004737	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr7:64004737C>T	ENST00000309683.6	-	2	255	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	ZNF680_ENST00000447137.2_Missense_Mutation_p.R35Q|ZNF680_ENST00000476563.1_Intron	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATATAAATTCCGTTGTGCAGT	0.438																																						ENST00000309683.6											0			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(103-105)cGg>cAg	zinc finger protein 680						155.0	159.0	158.0					7																	64004737		2203	4300	6503	SO:0001583	missense	340252			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64004737C>T	AK074911	AK074911	CCDS34644.1, CCDS47594.1	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			2013-01-08			ENSG00000173041	ENSG00000173041	ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	26897	26897	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""	"""hypothetical protein FLJ90430"""								12477932	12477932	Standard	Standard	NM_178558	NM_178558		Approved	FLJ90430	uc003tta.2	uc003tta.2	Q8NEM1	Q8NEM1	OTTHUMG00000156542	OTTHUMG00000156542	ENST00000309683.6:c.104G>A	7.37:g.64004737C>T	ENSP00000309330:p.Arg35Gln		ZNF680_ENST00000447137.2_Missense_Mutation_p.R35Q|ZNF680_ENST00000476563.1_Intron	p.R35Q	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN			2	255	-		Lung NSC(55;0.118)|all_lung(88;0.243)	35	KRAB.	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.104G>A	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	N	0.016	-1.527136	0.00959	.	.	ENSG00000173041	ENST00000309683;ENST00000447137	T;T	0.02763	4.17;4.17	0.665	-0.96	0.10340	0.665	-0.96	0.10340	Krueppel-associated box (4);	.	.	.	.	T	0.01489	0.0048	N	0.21142	0.635	0.09310	N	1	B;B	0.29646	0.081;0.253	B;B	0.22880	0.024;0.042	T	0.45629	-0.9248	8	0.05436	T	0.98	.	.	.	.	.	35;35	Q6ZNF3;Q8NEM1	.;ZN680_HUMAN	Q	35	ENSP00000309330:R35Q;ENSP00000393506:R35Q	ENSP00000309330:R35Q	R	-	2	0	0	ZNF680	63642172	63642172	0.001000	0.12720	0.014000	0.15608	0.011000	0.07611	-0.180000	0.09754	-0.429000	0.07329	-0.350000	0.07774	CGG		0.438	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1		-13.820319	-71	-71	215	215	NM_178558		5	11.016772	11.016772	107	0.044643	0	0	0	1	0	5	107	0.044643
PDIA5	10954	broad.mit.edu	37	3	122821618	122821618	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr3:122821618A>G	ENST00000316218.7	+	5	457	c.362A>G	c.(361-363)gAa>gGa	p.E121G		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	121					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTTCATACTGAATATAACCGA	0.403																																						ENST00000316218.7											0			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(361-363)gAa>gGa	protein disulfide isomerase family A, member 5						142.0	124.0	130.0					3																	122821618		2203	4300	6503	SO:0001583	missense	10954			cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122821618A>G	AK054963	AK054963	CCDS3020.1	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	"""Protein disulfide isomerases"""	24811	24811	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""protein disulfide isomerase-associated 5"""		"""protein disulfide isomerase-associated 5"""			7556671	7556671	Standard	Standard	NM_006810	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	uc003egc.2	Q14554	Q14554	OTTHUMG00000159558	OTTHUMG00000159558	ENST00000316218.7:c.362A>G	3.37:g.122821618A>G	ENSP00000323313:p.Glu121Gly			p.E121G	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	5	457	+			121		D3DN95|Q9BV43	Missense_Mutation	SNP	ENST00000316218.7	37	c.362A>G	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233782	0.58886	.	.	ENSG00000065485	ENST00000316218;ENST00000484644	T	0.25085	1.82	4.97	4.97	0.65823	4.97	4.97	0.65823	Thioredoxin-like fold (1);	0.109692	0.64402	D	0.000009	T	0.26919	0.0659	L	0.48362	1.52	0.44908	D	0.99792	P	0.36162	0.54	B	0.39771	0.309	T	0.04115	-1.0976	10	0.46703	T	0.11	.	12.261	0.54651	1.0:0.0:0.0:0.0	.	121	Q14554	PDIA5_HUMAN	G	121;25	ENSP00000323313:E121G	ENSP00000323313:E121G	E	+	2	0	0	PDIA5	124304308	124304308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.695000	0.61767	2.080000	0.62538	0.460000	0.39030	GAA		0.403	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1		53.368952	14	14	68	68	NM_006810		17	53.508705	53.508705	22	0.435897	0	0	0	1	0	17	22	0.435897
MAP3K12	7786	broad.mit.edu	37	12	53880791	53880791	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr12:53880791G>A	ENST00000267079.2	-	3	511	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	96					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602																																						ENST00000267079.2											0			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(286-288)Cgc>Tgc	mitogen-activated protein kinase kinase kinase 12						82.0	67.0	72.0					12																	53880791		2203	4300	6503	SO:0001583	missense	7786			histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880791G>A	U07358	U07358	CCDS8860.1, CCDS55831.1	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			2013-10-30			ENSG00000139625	ENSG00000139625	ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	6851	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	"""dual leucine zipper kinase DLK"""	600447	600447		ZPK		ZPK		8037767	8037767	Standard	Standard	NM_006301	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	uc001sdn.2	Q12852	Q12852	OTTHUMG00000169854	OTTHUMG00000169854	ENST00000267079.2:c.286C>T	12.37:g.53880791G>A	ENSP00000267079:p.Arg96Cys		MAP3K12_ENST00000547035.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R129C|MAP3K12_ENST00000547151.1_5'UTR	p.R96C	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			3	511	-			96		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.286C>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316940	0.60524	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.77489	-1.09;-1.1;-1.1	4.73	4.73	0.59995	4.73	4.73	0.59995	.	0.000000	0.42821	D	0.000645	T	0.78848	0.4348	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.899	T	0.80710	-0.1261	10	0.87932	D	0	.	10.797	0.46466	0.0:0.0:0.6951:0.3049	.	129;96	G3V1Y2;Q12852	.;M3K12_HUMAN	C	96;129;129	ENSP00000267079:R96C;ENSP00000449038:R129C;ENSP00000448689:R129C	ENSP00000267079:R96C	R	-	1	0	0	MAP3K12	52167058	52167058	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	1.747000	0.38298	2.353000	0.79882	0.462000	0.41574	CGC		0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1		-4.616330	10	10	60	60	NM_006301		3	6.877454	6.877454	52	0.054545	0	0	0	1	0	3	52	0.054545
HMGXB4	10042	broad.mit.edu	37	22	35661472	35661472	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr22:35661472C>A	ENST00000216106.5	+	5	1219	c.1091C>A	c.(1090-1092)cCc>cAc	p.P364H	HMGXB4_ENST00000444518.2_Missense_Mutation_p.P255H	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	364					endosome to lysosome transport (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						GGCCCTCCTCCCAGCATCCCA	0.517																																						ENST00000216106.5											0			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1090-1092)cCc>cAc	HMG box domain containing 4						74.0	77.0	76.0					22																	35661472		2203	4300	6503	SO:0001583	missense	10042			endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661472C>A	AJ010069	AJ010069	CCDS33641.1	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	"""High mobility group / Non-canonical"""	5003	5003	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604702	604702	"""high-mobility group protein 2-like 1"""	HMG2L1	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	10329004, 10591208, 20511232	Standard	Standard	NM_001003681	NM_001003681		Approved	THC211630	uc003anl.3	uc003anl.3	Q9UGU5	Q9UGU5	OTTHUMG00000150439	OTTHUMG00000150439	ENST00000216106.5:c.1091C>A	22.37:g.35661472C>A	ENSP00000216106:p.Pro364His		HMGXB4_ENST00000444518.2_Missense_Mutation_p.P255H	p.P364H	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	1219	+			364		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.1091C>A	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.529083	0.27387	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.52057	0.68;2.19;0.69;2.19	5.74	4.73	0.59995	5.74	4.73	0.59995	.	0.509257	0.24054	N	0.041970	T	0.28167	0.0695	N	0.14661	0.345	0.33438	D	0.582035	P	0.45283	0.855	B	0.37091	0.241	T	0.47611	-0.9104	10	0.87932	D	0	-11.8579	10.4023	0.44237	0.0:0.8555:0.0:0.1445	.	364	Q9UGU5	HMGX4_HUMAN	H	255;255;255;364	ENSP00000401658:P255H;ENSP00000398302:P255H;ENSP00000415500:P255H;ENSP00000216106:P364H	ENSP00000216106:P364H	P	+	2	0	0	HMGXB4	33991472	33991472	0.998000	0.40836	0.989000	0.46669	0.462000	0.32619	3.083000	0.50136	2.712000	0.92718	0.650000	0.86243	CCC		0.517	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2		86.831972	-11	-11	57	57	NM_005487		27	87.586145	87.586145	15	0.642857	1	0	1.2476e-16	1	1.28225e-16	27	15	0.642857
UBR4	23352	broad.mit.edu	37	1	19473374	19473374	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:19473374G>A	ENST00000375254.3	-	52	7777	c.7750C>T	c.(7750-7752)Cgc>Tgc	p.R2584C	UBR4_ENST00000375226.2_Missense_Mutation_p.R2595C|UBR4_ENST00000375267.2_Missense_Mutation_p.R2584C|UBR4_ENST00000375217.2_Missense_Mutation_p.R2584C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2584					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGTTGGGGCGCATGATGGCA	0.532																																						ENST00000375267.2											0			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7750-7752)Cgc>Tgc	ubiquitin protein ligase E3 component n-recognin 4						230.0	214.0	220.0					1																	19473374		2203	4300	6503	SO:0001583	missense	23352			interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19473374G>A	AF348492	AF348492	CCDS189.1	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	"""Ubiquitin protein ligase E3 component n-recognins"""	30313	30313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609890	609890	"""zinc finger, UBR1 type 1"""	ZUBR1	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	14702039, 10718198, 16055722	Standard	Standard	XM_005245802	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	uc001bbi.3	Q5T4S7	Q5T4S7	OTTHUMG00000002498	OTTHUMG00000002498	ENST00000375254.3:c.7750C>T	1.37:g.19473374G>A	ENSP00000364403:p.Arg2584Cys		UBR4_ENST00000375217.2_Missense_Mutation_p.R2584C|UBR4_ENST00000375254.3_Missense_Mutation_p.R2584C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2595C	p.R2584C			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	52	7753	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2584		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7750C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942569	0.73672	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.39787	1.26;1.25;1.39;1.06	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.61783	-0.6992	10	0.87932	D	0	.	16.0062	0.80363	0.0:0.0:0.8575:0.1425	.	2584	Q5T4S7	UBR4_HUMAN	C	2584;2584;2584;2595;199;1305	ENSP00000364403:R2584C;ENSP00000364416:R2584C;ENSP00000364365:R2584C;ENSP00000364374:R2595C	ENSP00000364365:R2584C	R	-	1	0	0	UBR4	19345961	19345961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.891000	0.63185	2.817000	0.96982	0.563000	0.77884	CGC		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		-34.145054	-7	-7	208	208	NM_020765		4	7.628042	7.628042	162	0.024096	0	0	0	1	0	4	162	0.024096
OGN	4969	broad.mit.edu	37	9	95147973	95147973	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr9:95147973G>T	ENST00000262551.4	-	7	1246	c.826C>A	c.(826-828)Cca>Aca	p.P276T	OGN_ENST00000375561.5_Missense_Mutation_p.P276T|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	276					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AGGACGATTGGATTGCCCTCC	0.403																																						ENST00000262551.4											0			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(826-828)Cca>Aca	osteoglycin						147.0	139.0	142.0					9																	95147973		2203	4300	6503	SO:0001583	missense	4969				extracellular space|proteinaceous extracellular matrix	growth factor activity	g.chr9:95147973G>T	AI424992	AI424992	CCDS6695.1	CCDS6695.1	9q22	2008-02-05	2007-02-16		2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809	ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	8126	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	"""mimecan proteoglycan"""	602383	602383	"""osteoglycin (osteoinductive factor)"""		"""osteoglycin (osteoinductive factor)"""			2372374	2372374	Standard	Standard	NM_033014	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	uc004asa.3	P20774	P20774	OTTHUMG00000020224	OTTHUMG00000020224	ENST00000262551.4:c.826C>A	9.37:g.95147973G>T	ENSP00000262551:p.Pro276Thr		CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.P276T	p.P276T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN			7	1246	-			276		Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	ENST00000262551.4	37	c.826C>A	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283429	0.80803	.	.	ENSG00000106809	ENST00000262551;ENST00000375561	D;D	0.83673	-1.75;-1.75	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.91505	0.5222	10	0.66056	D	0.02	.	19.6241	0.95671	0.0:0.0:1.0:0.0	.	334;276	B4DI63;P20774	.;MIME_HUMAN	T	276	ENSP00000262551:P276T;ENSP00000364711:P276T	ENSP00000262551:P276T	P	-	1	0	0	OGN	94187794	94187794	1.000000	0.71417	0.947000	0.38551	0.617000	0.37484	9.835000	0.99442	2.708000	0.92522	0.650000	0.86243	CCA		0.403	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1		-4.183354	-24	-24	84	84	NM_024416		5	9.876158	9.876158	68	0.068493	1	0	0.000602214	1	0.000602214	5	68	0.068493
PPP1R12C	54776	broad.mit.edu	37	19	55602889	55602889	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr19:55602889T>C	ENST00000263433.3	-	22	2315	c.2300A>G	c.(2299-2301)aAg>aGg	p.K767R	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K692R|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K704R	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ATTCTCATCCTTGAGGCGCTG	0.637																																						ENST00000263433.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(2299-2301)aAg>aGg	protein phosphatase 1, regulatory subunit 12C						60.0	55.0	57.0					19																	55602889		2203	4300	6503	SO:0001583	missense	54776				cytoplasm		g.chr19:55602889T>C	AF312028	AF312028	CCDS12916.1	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503	ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	14947	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	"""myosin-binding subunit 85"""	613245	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	11399775	Standard	Standard	NM_017607	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	uc002qix.4	Q9BZL4	Q9BZL4			ENST00000263433.3:c.2300A>G	19.37:g.55602889T>C	ENSP00000263433:p.Lys767Arg		PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K692R|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K704R	p.K767R	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	22	2315	-			767			Missense_Mutation	SNP	ENST00000263433.3	37	c.2300A>G	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902556	0.52227	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.15718	2.4;2.4;2.4	4.2	3.17	0.36434	4.2	3.17	0.36434	.	0.145923	0.42821	D	0.000646	T	0.31009	0.0783	L	0.58810	1.83	0.30710	N	0.749401	D;P;D	0.69078	0.997;0.873;0.997	D;B;D	0.73380	0.98;0.411;0.98	T	0.13818	-1.0495	10	0.87932	D	0	.	5.7809	0.18306	0.0:0.1213:0.0:0.8787	.	692;765;767	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	R	767;704;692	ENSP00000263433:K767R;ENSP00000365573:K704R;ENSP00000387833:K692R	ENSP00000263433:K767R	K	-	2	0	0	PPP1R12C	60294701	60294701	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	3.603000	0.54074	1.683000	0.51011	0.459000	0.35465	AAG		0.637	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2		51.300471	-2	-2	45	45	NM_017607		16	51.307465	51.307465	15	0.516129	0	0	0	1	0	16	15	0.516129
SLC40A1	30061	broad.mit.edu	37	2	190428516	190428516	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr2:190428516T>C	ENST00000261024.2	-	7	1622	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	399					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AACGGACAAGTCCAGGGGGCT	0.428																																						ENST00000261024.2											0			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1195-1197)gAc>gGc	solute carrier family 40 (iron-regulated transporter), member 1						78.0	77.0	77.0					2																	190428516		2203	4300	6503	SO:0001583	missense	30061			anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190428516T>C	AF215636	AF215636	CCDS2299.1	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	"""Solute carriers"""	10909	10909	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ferroportin 1"""	"""ferroportin 1"""	604653	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	10828623	Standard	Standard	NM_014585	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	uc002uqp.4	Q9NP59	Q9NP59	OTTHUMG00000132662	OTTHUMG00000132662	ENST00000261024.2:c.1196A>G	2.37:g.190428516T>C	ENSP00000261024:p.Asp399Gly			p.D399G	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		7	1622	-			399		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.1196A>G	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.931013	0.92389	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.93906	-3.31	6.02	6.02	0.97574	6.02	6.02	0.97574	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	M	0.78049	2.395	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	D	0.96125	0.9088	10	0.49607	T	0.09	-33.6668	16.542	0.84395	0.0:0.0:0.0:1.0	.	399	Q9NP59	S40A1_HUMAN	G	399;134	ENSP00000261024:D399G	ENSP00000261024:D399G	D	-	2	0	0	SLC40A1	190136761	190136761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.025000	0.88777	2.304000	0.77564	0.528000	0.53228	GAC		0.428	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2		73.833352	-11	-11	50	50			23	73.837571	73.837571	24	0.489362	0	0	0	1	0	23	24	0.489362
KRT83	3889	broad.mit.edu	37	12	52710711	52710711	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr12:52710711T>C	ENST00000293670.3	-	5	909	c.847A>G	c.(847-849)Atc>Gtc	p.I283V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	283	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGCCTTGATCTCGGCAACG	0.582																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3											0			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(847-849)Atc>Gtc	keratin 83						175.0	145.0	155.0					12																	52710711		2203	4300	6503	SO:0001583	missense	3889			epidermis development	keratin filament	structural molecule activity	g.chr12:52710711T>C	X99141	X99141	CCDS8823.1	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	6460	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""hard keratin type II"""	"""hard keratin type II"""	602765	602765	"""keratin, hair, basic, 3"""	KRTHB3	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	9084137, 16831889	Standard	Standard	NM_002282	NM_002282		Approved	Hb-3	uc001saf.2	uc001saf.2	P78385	P78385	OTTHUMG00000169632	OTTHUMG00000169632	ENST00000293670.3:c.847A>G	12.37:g.52710711T>C	ENSP00000293670:p.Ile283Val			p.I283V	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	909	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		283	Coil 2.|Rod.	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.847A>G	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	T	4.896	0.166519	0.09339	.	.	ENSG00000170523	ENST00000293670	D	0.89270	-2.49	3.9	3.9	0.45041	3.9	3.9	0.45041	Filament (1);	0.000000	0.42053	U	0.000761	T	0.80914	0.4715	L	0.37800	1.135	0.36185	D	0.849683	B	0.28233	0.204	B	0.37692	0.256	T	0.72090	-0.4395	10	0.02654	T	1	.	4.7787	0.13192	0.0:0.2834:0.0:0.7166	.	283	P78385	KRT83_HUMAN	V	283	ENSP00000293670:I283V	ENSP00000293670:I283V	I	-	1	0	0	KRT83	50996978	50996978	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	5.993000	0.70616	1.544000	0.49359	0.459000	0.35465	ATC		0.582	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1		7.955240	-29	-29	108	108	NM_002282		8	16.268038	16.268038	53	0.131148	0	0	0	1	0	8	53	0.131148
WDR41	55255	broad.mit.edu	37	5	76788029	76788029	+	Missense_Mutation	SNP	A	A	C	rs200920979		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr5:76788029A>C	ENST00000296679.4	-	1	392	c.17T>G	c.(16-18)aTc>aGc	p.I6S	WDR41_ENST00000507029.1_Missense_Mutation_p.I6S|WDR41_ENST00000414719.2_5'Flank	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	6						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GCCTCCCCCGATCAGCCATCG	0.706																																						ENST00000296679.4											0			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(16-18)aTc>aGc	WD repeat domain 41						42.0	45.0	44.0					5																	76788029		2203	4300	6503	SO:0001583	missense	55255						g.chr5:76788029A>C	AF115511	AF115511	CCDS4038.1	CCDS4038.1	5q14	2013-01-09			2013-01-09			ENSG00000164253	ENSG00000164253	ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	"""WD repeat domain containing"""	25601	25601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_018268	NM_018268		Approved	FLJ10904	uc003kff.1	uc003kff.1	Q9HAD4	Q9HAD4	OTTHUMG00000102169	OTTHUMG00000102169	ENST00000296679.4:c.17T>G	5.37:g.76788029A>C	ENSP00000296679:p.Ile6Ser		WDR41_ENST00000507029.1_Missense_Mutation_p.I6S	p.I6S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	1	392	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	6		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.17T>G	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.920822	0.73213	.	.	ENSG00000164253	ENST00000296679;ENST00000507029;ENST00000511791;ENST00000514559;ENST00000511036	T;T;T;T;T	0.59224	0.39;0.92;1.15;0.35;0.28	4.02	4.02	0.46733	4.02	4.02	0.46733	.	0.418213	0.25981	N	0.027077	T	0.38188	0.1031	N	0.14661	0.345	0.80722	D	1	P;B	0.45348	0.856;0.181	B;B	0.38156	0.266;0.134	T	0.46693	-0.9173	10	0.87932	D	0	-3.0539	11.6016	0.51006	1.0:0.0:0.0:0.0	.	6;6	B4DT55;Q9HAD4	.;WDR41_HUMAN	S	6	ENSP00000296679:I6S;ENSP00000424287:I6S;ENSP00000423540:I6S;ENSP00000426937:I6S;ENSP00000422510:I6S	ENSP00000296679:I6S	I	-	2	0	0	WDR41	76823785	76823785	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.877000	0.63086	1.805000	0.52779	0.374000	0.22700	ATC		0.706	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2		46.248309	-12	-12	42	42	NM_018268		14	46.277244	46.277244	16	0.466667	0	0	0	1	0	14	16	0.466667
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		127.249806	-21	-21	91	91	NM_002072		38	127.274374	127.274374	41	0.481013	0	0	0	1	0	38	41	0.481013
SNHG14	104472715	broad.mit.edu	37	15	25321125	25321125	+	RNA	SNP	T	T	G			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr15:25321125T>G	ENST00000549804.2	+	0	1109				SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-10_ENST00000363791.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TTGAACAAAATGAGTGAAAAC	0.443																																						ENST00000549804.2											0																	111.0	100.0	104.0					15																	25321125		876	1991	2867			0						g.chr15:25321125T>G					15q11.2	2014-01-17	2011-08-22	2011-08-22	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	"""Long non-coding RNAs"""	37462	37462	non-coding RNA	RNA, long non-coding	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""	"""non-protein coding RNA 214"""			"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1	"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	23771028	Standard	Standard				Approved	NCRNA00214, UBE3A-AS					OTTHUMG00000056661	OTTHUMG00000056661		15.37:g.25321125T>G			SNORD116-11_ENST00000383882.1_RNA								0	1109	+						RNA	SNP	ENST00000549804.2	37																																																																																											0.443	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2		62.223338	-56	-56	149	149			19	62.245036	62.245036	21	0.475000	0	0	0	1	0	19	21	0.475
ZBTB8A	653121	broad.mit.edu	37	1	33058775	33058775	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:33058775C>G	ENST00000373510.4	+	3	472	c.243C>G	c.(241-243)gaC>gaG	p.D81E	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.D81E|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TTATCTTGGACTTCGTATATT	0.413																																						ENST00000373510.4											0			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(241-243)gaC>gaG	zinc finger and BTB domain containing 8A						113.0	108.0	110.0					1																	33058775		2203	4300	6503	SO:0001583	missense	653121			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058775C>G	AF548353	AF548353	CCDS30664.1	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	24172	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger and BTB domain containing 8"""	ZBTB8	"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	12477932	Standard	Standard	NM_001040441	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	uc001bvn.3	Q96BR9	Q96BR9	OTTHUMG00000007855	OTTHUMG00000007855	ENST00000373510.4:c.243C>G	1.37:g.33058775C>G	ENSP00000362609:p.Asp81Glu		RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.D81E	p.D81E	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	472	+			81	BTB.	Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.243C>G	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640850	0.67244	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.70045	-0.45;-0.45	5.32	4.39	0.52855	5.32	4.39	0.52855	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	T	0.69940	0.3167	L	0.37630	1.12	0.43953	D	0.996624	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.968	T	0.64803	-0.6321	10	0.27785	T	0.31	-16.0751	9.3611	0.38197	0.0:0.8499:0.0:0.1501	.	81;81	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	E	81	ENSP00000362609:D81E;ENSP00000317561:D81E	ENSP00000317561:D81E	D	+	3	2	2	ZBTB8A	32831362	32831362	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	0.687000	0.25407	2.651000	0.90000	0.585000	0.79938	GAC		0.413	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2		0.381265	-1	-1	134	134	NM_144621		9	21.028093	21.028093	105	0.078947	0	0	0	1	0	9	105	0.078947
MUC16	94025	broad.mit.edu	37	19	8999436	8999436	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr19:8999436T>C	ENST00000397910.4	-	56	40942	c.40739A>G	c.(40738-40740)gAg>gGg	p.E13580G	MUC16_ENST00000380951.5_Missense_Mutation_p.E221G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13582	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGCCCAGCTCAGTGATGCT	0.572																																						ENST00000397910.4											0			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40738-40740)gAg>gGg	mucin 16, cell surface associated						235.0	197.0	210.0					19																	8999436		2063	4208	6271	SO:0001583	missense	94025			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999436T>C	AF414442	AF414442	CCDS54212.1	CCDS54212.1	19p13.2	2008-02-05	2006-03-14		2008-02-05	2006-03-14			ENSG00000181143		ENSG00000181143		"""Mucins"""	"""Mucins"""	15582	15582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606154	606154						11369781	11369781	Standard	Standard	XM_006722941	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	uc002mkp.3	Q8WXI7	Q8WXI7			ENST00000397910.4:c.40739A>G	19.37:g.8999436T>C	ENSP00000381008:p.Glu13580Gly		MUC16_ENST00000380951.5_Missense_Mutation_p.E221G	p.E13580G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			56	40942	-			13582	SEA 10.	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40739A>G	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.899|8.899	0.955939|0.955939	0.18507|0.18507	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.29655|.	1.56;1.56|.	3.48|3.48	-1.19|-1.19	0.09585|0.09585	3.48|3.48	-1.19|-1.19	0.09585|0.09585	SEA (2);|.	.|.	.|.	.|.	.|.	T|T	0.53254|0.53254	0.1785|0.1785	M|M	0.65975|0.65975	2.015|2.015	.|.	.|.	.|.	B;D|.	0.53745|.	0.134;0.962|.	B;D|.	0.66716|.	0.063;0.946|.	T|T	0.58086|0.58086	-0.7698|-0.7698	7|4	.|.	.|.	.|.	.|.	7.319|7.319	0.26517|0.26517	0.0:0.4982:0.0:0.5018|0.0:0.4982:0.0:0.5018	.|.	21225;13580|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	G|G	13580;221|420	ENSP00000381008:E13580G;ENSP00000370338:E221G|.	.|.	E|S	-|-	2|1	0|0	0|0	MUC16|MUC16	8860436|8860436	8860436|8860436	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.020000|0.020000	0.10135|0.10135	-0.642000|-0.642000	0.05427|0.05427	-0.468000|-0.468000	0.06922|0.06922	0.454000|0.454000	0.30748|0.30748	GAG|AGC		0.572	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		143.329073	-48	-48	333	333	NM_024690		56	157.634179	157.634179	177	0.240343	0	0	0	1	0	56	177	0.240343
NREP	9315	broad.mit.edu	37	5	111066659	111066659	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr5:111066659C>T	ENST00000379671.3	-	5	430	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	NREP_ENST00000508870.1_Missense_Mutation_p.E56K|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000447165.2_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000453526.2_Missense_Mutation_p.E56K|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000455559.2_Missense_Mutation_p.E56K|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000395634.3_Missense_Mutation_p.E100K|NREP_ENST00000419114.2_Missense_Mutation_p.E56K|NREP_ENST00000450761.2_Missense_Mutation_p.E56K|NREP_ENST00000509427.1_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000257435.7_Missense_Mutation_p.E56K|NREP_ENST00000446294.2_Missense_Mutation_p.E56K|NREP_ENST00000509025.1_Intron	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	56					axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGCGGAGTTCACTGCTGCCC	0.478																																						ENST00000379671.3											0										c.(166-168)Gaa>Aaa	neuronal regeneration related protein						168.0	147.0	154.0					5																	111066659		2202	4300	6502	SO:0001583	missense	9315				cytoplasm		g.chr5:111066659C>T	AF119859	AF119859	CCDS4105.1, CCDS47255.1	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986	ENSG00000134986	ENSG00000134986				16834	16834	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	"""neuronal protein 3.1"""	607332	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	8261136, 10981724, 15485502	Standard	Standard	NM_004772	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	uc011cvr.2	Q16612	Q16612	OTTHUMG00000128795	OTTHUMG00000128795	ENST00000379671.3:c.166G>A	5.37:g.111066659C>T	ENSP00000368993:p.Glu56Lys		NREP_ENST00000455559.2_Missense_Mutation_p.E56K|NREP_ENST00000446294.2_Missense_Mutation_p.E56K|NREP_ENST00000450761.2_Missense_Mutation_p.E56K|NREP_ENST00000509427.1_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000447165.2_Missense_Mutation_p.E56K|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000395634.3_Missense_Mutation_p.E100K|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000508870.1_Missense_Mutation_p.E56K|NREP_ENST00000509025.1_Intron|NREP_ENST00000419114.2_Missense_Mutation_p.E56K|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000257435.7_Missense_Mutation_p.E56K|NREP_ENST00000453526.2_Missense_Mutation_p.E56K	p.E56K	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN			5	430	-			56		B2RDN8|B7Z5D2|D3DSZ8	Missense_Mutation	SNP	ENST00000379671.3	37	c.166G>A	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635706	0.29068	.	.	ENSG00000134986	ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100	T;T;T;T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.455843	0.20888	N	0.083874	T	0.55226	0.1907	.	.	.	0.19300	N	0.999973	P;P;B	0.42078	0.77;0.77;0.322	P;P;B	0.48598	0.505;0.583;0.142	T	0.50268	-0.8848	9	0.38643	T	0.18	-0.6437	19.1289	0.93397	0.0:1.0:0.0:0.0	.	56;100;56	D6RIC9;B7Z5D2;Q16612	.;.;NP311_HUMAN	K	56;56;56;56;100;56;56;56;56;56;56;56	ENSP00000368993:E56K;ENSP00000257435:E56K;ENSP00000408839:E56K;ENSP00000402965:E56K;ENSP00000378996:E100K;ENSP00000416617:E56K;ENSP00000399766:E56K;ENSP00000422630:E56K;ENSP00000403383:E56K;ENSP00000392559:E56K;ENSP00000427149:E56K;ENSP00000427476:E56K	ENSP00000257435:E56K	E	-	1	0	0	C5orf13	111094558	111094558	0.349000	0.24870	0.020000	0.16555	0.948000	0.59901	3.573000	0.53856	2.523000	0.85059	0.655000	0.94253	GAA		0.478	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1		101.174741	-12	-12	65	65	NM_004772		33	101.205669	101.205669	30	0.523810	0	0	0	1	0	33	30	0.52381
NPR1	4881	broad.mit.edu	37	1	153658320	153658320	+	Silent	SNP	C	C	T			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr1:153658320C>T	ENST00000368680.3	+	9	2116	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	548	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCACAGAGGGCCAGTTCCAAG	0.562																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3											0			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1642-1644)ggC>ggT	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)						67.0	59.0	62.0					1																	153658320		2203	4300	6503	SO:0001819	synonymous_variant	4881			body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153658320C>T	BC063304	BC063304	CCDS1051.1	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418	ENSG00000169418	ENSG00000169418				7943	7943	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	"""guanylate cyclase A"""	108960	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	1979052	Standard	Standard	NM_000906	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	uc001fcs.4	P16066	P16066	OTTHUMG00000037085	OTTHUMG00000037085	ENST00000368680.3:c.1644C>T	1.37:g.153658320C>T				p.G548G	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	2116	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		548	Protein kinase.	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.1644C>T	CCDS1051.1																																																																																									0.562	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1		76.001443	-12	-12	82	82	NM_000906		27	76.717383	76.717383	42	0.391304	0	0	0	1	0	27	42	0.391304
IFT140	9742	broad.mit.edu	37	16	1574691	1574691	+	Silent	SNP	C	C	T	rs151293332		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr16:1574691C>T	ENST00000426508.2	-	24	3366	c.3003G>A	c.(3001-3003)gcG>gcA	p.A1001A	IFT140_ENST00000361339.5_Silent_p.A195A	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1001					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGGCTATTTGCGCAGCCTAGA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		11513	0.0		0.0	False		,,,				2504	0.001					ENST00000426508.2											0			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3001-3003)gcG>gcA	intraflagellar transport 140 homolog (Chlamydomonas)						57.0	60.0	59.0					16																	1574691		2199	4300	6499	SO:0001819	synonymous_variant	9742						g.chr16:1574691C>T	AB011162	AB011162	CCDS10439.1	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	29077	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614620	614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	9628581	Standard	Standard	NM_014714	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	uc002cmb.3	Q96RY7	Q96RY7	OTTHUMG00000128585	OTTHUMG00000128585	ENST00000426508.2:c.3003G>A	16.37:g.1574691C>T			IFT140_ENST00000361339.5_Silent_p.A195A	p.A1001A	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			24	3366	-		Hepatocellular(780;0.219)	1001		A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.3003G>A	CCDS10439.1																																																																																									0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		-1.905916	-9	-9	53	53	NM_014714		3	6.577931	6.577931	41	0.068182	0	0	0	1	0	3	41	0.068182
TGM4	7047	broad.mit.edu	37	3	44952846	44952846	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr3:44952846A>C	ENST00000296125.4	+	13	1929	c.1861A>C	c.(1861-1863)Aag>Cag	p.K621Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	621					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACTGACGTCAAGTTCTCTTT	0.478																																						ENST00000296125.4											0			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1861-1863)Aag>Cag	transglutaminase 4						152.0	142.0	145.0					3																	44952846		2203	4300	6503	SO:0001583	missense	7047			peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952846A>C	BC007003	BC007003	CCDS2723.1	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	"""Transglutaminases"""	11780	11780	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600585	600585	"""transglutaminase 4 (prostate)"""		"""transglutaminase 4 (prostate)"""			7665178, 7916568	7665178, 7916568	Standard	Standard	NM_003241	NM_003241		Approved	TGP	uc003coc.4	uc003coc.4	P49221	P49221	OTTHUMG00000133096	OTTHUMG00000133096	ENST00000296125.4:c.1861A>C	3.37:g.44952846A>C	ENSP00000296125:p.Lys621Gln			p.K621Q	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	13	1929	+			621		Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1861A>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	A	9.577	1.122484	0.20877	.	.	ENSG00000163810	ENST00000296125	T	0.68025	-0.3	2.72	1.33	0.21861	2.72	1.33	0.21861	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.141093	0.30126	U	0.010344	T	0.47581	0.1453	L	0.33485	1.01	0.22066	N	0.999383	B	0.30973	0.302	B	0.29663	0.105	T	0.25293	-1.0136	10	0.16420	T	0.52	.	8.4649	0.32949	0.6368:0.3632:0.0:0.0	.	621	P49221	TGM4_HUMAN	Q	621	ENSP00000296125:K621Q	ENSP00000296125:K621Q	K	+	1	0	0	TGM4	44927850	44927850	0.783000	0.28701	0.226000	0.23910	0.097000	0.18754	1.203000	0.32284	0.991000	0.38814	0.460000	0.39030	AAG		0.478	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2		135.162893	-28	-28	100	100	NM_003241		41	135.607544	135.607544	55	0.427083	0	0	0	1	0	41	55	0.427083
SLIT2	9353	broad.mit.edu	37	4	20543158	20543158	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr4:20543158G>A	ENST00000504154.1	+	20	2311	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R	SLIT2_ENST00000503837.1_Missense_Mutation_p.G683R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G679R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G691R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	687	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATTGTCACGGGAAATCCTAG	0.438																																						ENST00000504154.1											0			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2059-2061)Gga>Aga	slit homolog 2 (Drosophila)						114.0	103.0	107.0					4																	20543158		2203	4300	6503	SO:0001583	missense	9353			apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20543158G>A	AF055585	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147	ENSG00000145147	ENSG00000145147				11086	11086	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603746	603746	"""slit (Drosophila) homolog 2"""	SLIL3	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	9813312, 18269211	Standard	Standard	XM_005248211	XM_005248211		Approved	Slit-2	uc003gpr.1	uc003gpr.1	O94813	O94813	OTTHUMG00000128551	OTTHUMG00000128551	ENST00000504154.1:c.2059G>A	4.37:g.20543158G>A	ENSP00000422591:p.Gly687Arg		SLIT2_ENST00000503837.1_Missense_Mutation_p.G683R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G679R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G691R	p.G687R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			20	2311	+			687	LRRCT 3.	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2059G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717663	0.89205	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80738	-1.41;-1.41;-1.34;-1.4	5.91	5.91	0.95273	5.91	5.91	0.95273	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88716	0.3226	10	0.62326	D	0.03	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	679;687	O94813-3;O94813	.;SLIT2_HUMAN	R	679;687;691;683;683	ENSP00000427548:G679R;ENSP00000422591:G687R;ENSP00000273739:G691R;ENSP00000422261:G683R	ENSP00000273739:G691R	G	+	1	0	0	SLIT2	20152256	20152256	1.000000	0.71417	0.978000	0.43139	0.909000	0.53808	9.471000	0.97696	2.794000	0.96219	0.655000	0.94253	GGA		0.438	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		-4.809987	9	9	76	76			3	6.678549	6.678549	52	0.054545	0	0	0	1	0	3	52	0.054545
SHPK	23729	broad.mit.edu	37	17	3514063	3514063	+	Silent	SNP	G	G	A			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr17:3514063G>A	ENST00000225519.3	-	7	1330	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	410					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		ATGGAGTGCAGGTTCTGAACA	0.632																																						ENST00000225519.3											0			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1228-1230)Ctg>Ttg	sedoheptulokinase						122.0	123.0	123.0					17																	3514063		2203	4300	6503	SO:0001819	synonymous_variant	23729			carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3514063G>A	AF163573	AF163573	CCDS11030.1	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	ENSG00000197417	ENSG00000197417	2.7.1.14			1492	1492	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605060	605060	"""carbohydrate kinase-like"""	CARKL	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	10673275, 18186520	Standard	Standard	NM_013276	NM_013276		Approved	SHK	uc002fvz.1	uc002fvz.1	Q9UHJ6	Q9UHJ6	OTTHUMG00000090694	OTTHUMG00000090694	ENST00000225519.3:c.1228C>T	17.37:g.3514063G>A				p.L410L	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1330	-			410		B2R640|Q8WUH3	Silent	SNP	ENST00000225519.3	37	c.1228C>T	CCDS11030.1																																																																																									0.632	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		123.454648	-13	-13	112	112			38	123.566422	123.566422	32	0.542857	0	0	0	1	0	38	32	0.542857
LAMA1	284217	broad.mit.edu	37	18	6999964	6999964	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr18:6999964T>C	ENST00000389658.3	-	31	4508	c.4415A>G	c.(4414-4416)cAc>cGc	p.H1472R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1472	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACGGAAATCGTGGTCCCCTTC	0.423																																						ENST00000389658.3											0			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4414-4416)cAc>cGc	laminin, alpha 1						77.0	68.0	71.0					18																	6999964		2203	4300	6503	SO:0001583	missense	284217			axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6999964T>C	X58531	X58531	CCDS32787.1	CCDS32787.1	18p11.3	2013-03-01			2013-03-01			ENSG00000101680	ENSG00000101680	ENSG00000101680	ENSG00000101680		"""Laminins"""	"""Laminins"""	6481	6481	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			150320	150320		LAMA		LAMA		2591971	2591971	Standard	Standard	NM_005559	NM_005559		Approved		uc002knm.3	uc002knm.3	P25391	P25391	OTTHUMG00000133478	OTTHUMG00000133478	ENST00000389658.3:c.4415A>G	18.37:g.6999964T>C	ENSP00000374309:p.His1472Arg			p.H1472R	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			31	4508	-		Colorectal(10;0.172)	1472	Laminin EGF-like 16.		Missense_Mutation	SNP	ENST00000389658.3	37	c.4415A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	5.540	0.284495	0.10513	.	.	ENSG00000101680	ENST00000389658	T	0.62364	0.03	5.43	-2.46	0.06461	5.43	-2.46	0.06461	EGF-like, laminin (3);	1.471490	0.03930	N	0.285182	T	0.45216	0.1331	N	0.19112	0.55	0.09310	N	1	B	0.25719	0.132	B	0.31101	0.124	T	0.24870	-1.0148	10	0.15499	T	0.54	.	7.4081	0.27001	0.0:0.2705:0.1162:0.6132	.	1472	P25391	LAMA1_HUMAN	R	1472	ENSP00000374309:H1472R	ENSP00000374309:H1472R	H	-	2	0	0	LAMA1	6989964	6989964	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.464000	0.21988	-0.581000	0.05937	-0.242000	0.12053	CAC		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		7.886176	-14	-14	22	22	NM_005559		4	9.979212	9.979212	18	0.181818	0	0	0	1	0	4	18	0.181818
ARHGAP39	80728	broad.mit.edu	37	8	145773633	145773634	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	g.chr8:145773633_145773634delGG	ENST00000276826.5	-	4	1037_1038	c.836_837delCC	c.(835-837)gccfs	p.A279fs	ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.A279fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.A279fs|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	279	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTGGGAGCTCGGCCCTCTTCAG	0.693																																						ENST00000276826.5											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(835-837)gccfs	Rho GTPase activating protein 39																																			SO:0001589	frameshift_variant	80728			axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773633_145773634delGG			CCDS34971.1	CCDS34971.1	8q24.3	2011-06-29			2011-06-29			ENSG00000147799	ENSG00000147799	ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	"""Rho GTPase activating proteins"""	29351	29351	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880	615880						15755809	15755809	Standard	Standard	XM_005272344	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	uc003zds.1	Q9C0H5	Q9C0H5	OTTHUMG00000165182	OTTHUMG00000165182	ENST00000276826.5:c.836_837delCC	8.37:g.145773633_145773634delGG	ENSP00000276826:p.Ala279fs		ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.A279fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.A279fs	p.A279fs			Q9C0H5	RHG39_HUMAN			4	1037_1038	-			279	Pro-rich.	B4E1I1	Frame_Shift_Del	DEL	ENST00000276826.5	37	c.836_837delCC																																																																																										0.693	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	.	.	0	0	9	9			3			5	0.38						3	5	0.38
