#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_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	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_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	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_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	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_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	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_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OR5D18	219438	broad.mit.edu	37	11	55587681	55587681	+	Missense_Mutation	SNP	T	T	A	rs369481031		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:55587681T>A	ENST00000333976.4	+	1	596	c.576T>A	c.(574-576)gaT>gaA	p.D192E		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTTGCTCTGATACTTACATCA	0.398																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(574-576)gaT>gaA		olfactory receptor, family 5, subfamily D, member 18							196.0	174.0	182.0					11																	55587681		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587681T>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.576T>A	11.37:g.55587681T>A	ENSP00000335025:p.Asp192Glu						p.D192E	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	596	+		all_epithelial(135;0.208)	192					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.576T>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	9.064	0.995121	0.19043	.	.	ENSG00000186119	ENST00000333976	T	0.00227	8.5	4.85	-0.612	0.11597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	D	0.000996	T	0.00412	0.0013	M	0.80847	2.515	0.09310	N	0.999999	D	0.63880	0.993	P	0.62014	0.897	T	0.39099	-0.9630	10	0.87932	D	0	-10.2857	9.3976	0.38412	0.0:0.604:0.0:0.396	.	192	Q8NGL1	OR5DI_HUMAN	E	192	ENSP00000335025:D192E	ENSP00000335025:D192E	D	+	3	2	OR5D18	55344257	0.000000	0.05858	0.017000	0.16124	0.076000	0.17211	-0.618000	0.05578	-0.033000	0.13736	-0.401000	0.06369	GAT		0.398	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		48	192	0	0	0	0.870114	0	48	192				
WDR66	144406	broad.mit.edu	37	12	122359424	122359424	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:122359424G>C	ENST00000288912.4	+	2	1067	c.213G>C	c.(211-213)aaG>aaC	p.K71N	WDR66_ENST00000397454.2_Missense_Mutation_p.K71N	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	71	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		aggaCAAAAAGATTGTCATGG	0.498																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(211-213)aaG>aaC		WD repeat domain 66							67.0	73.0	71.0					12																	122359424		1955	4127	6082	SO:0001583	missense	144406						calcium ion binding	g.chr12:122359424G>C	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.213G>C	12.37:g.122359424G>C	ENSP00000288912:p.Lys71Asn					WDR66_ENST00000397454.2_Missense_Mutation_p.K71N	p.K71N	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	2	1067	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		71			Glu-rich.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.213G>C	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346394	0.24426	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.20738	2.05;2.05	3.67	-2.79	0.05841	.	.	.	.	.	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.31724	-0.9933	9	0.34782	T	0.22	.	3.9526	0.09375	0.5431:0.0:0.2789:0.178	.	71	Q8TBY9	WDR66_HUMAN	N	71	ENSP00000288912:K71N;ENSP00000380595:K71N	ENSP00000288912:K71N	K	+	3	2	WDR66	120843807	0.000000	0.05858	0.001000	0.08648	0.545000	0.35147	-0.599000	0.05700	-0.459000	0.07013	0.313000	0.20887	AAG		0.498	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		16	30	0	0	0	0.608945	0	16	30				
TTC37	9652	broad.mit.edu	37	5	94849322	94849322	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:94849322A>T	ENST00000358746.2	-	27	3029	c.2731T>A	c.(2731-2733)Tat>Aat	p.Y911N	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATGGTGTCATAACTTCCAACT	0.333																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2731-2733)Tat>Aat		tetratricopeptide repeat domain 37							109.0	107.0	108.0					5																	94849322		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94849322A>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2731T>A	5.37:g.94849322A>T	ENSP00000351596:p.Tyr911Asn					TTC37_ENST00000515176.1_5'UTR	p.Y911N	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			27	3029	-			911					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.2731T>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.412635	0.42817	.	.	ENSG00000198677	ENST00000358746	T	0.54071	0.59	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.062472	0.64402	D	0.000003	T	0.49541	0.1563	L	0.60455	1.87	0.58432	D	0.999993	P	0.45902	0.868	B	0.43018	0.405	T	0.48703	-0.9012	10	0.32370	T	0.25	.	10.3425	0.43887	0.9263:0.0:0.0737:0.0	.	911	Q6PGP7	TTC37_HUMAN	N	911	ENSP00000351596:Y911N	ENSP00000351596:Y911N	Y	-	1	0	TTC37	94875078	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.112000	0.77086	2.231000	0.72958	0.397000	0.26171	TAT		0.333	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		28	58	0	0	0	0.750413	0	28	58				
AATK	9625	broad.mit.edu	37	17	79095073	79095073	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:79095073G>A	ENST00000326724.4	-	11	2687	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	AATK_ENST00000417379.1_Missense_Mutation_p.P785L	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	888					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCGGAAGGCTGGCACCACATC	0.657																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(2662-2664)cCa>cTa		apoptosis-associated tyrosine kinase							17.0	22.0	20.0					17																	79095073		2028	4188	6216	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79095073G>A	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2663C>T	17.37:g.79095073G>A	ENSP00000324196:p.Pro888Leu					AATK_ENST00000417379.1_Missense_Mutation_p.P785L	p.P888L	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	2687	-	all_neural(118;0.101)		888					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.2663C>T	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.80|13.80	2.344569|2.344569	0.41498|0.41498	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000326724;ENST00000374792|ENST00000417379	T;T|.	0.81078|.	-1.39;-1.45|.	4.47|4.47	0.927|0.927	0.19437|0.19437	.|.	0.356518|.	0.25169|.	N|.	0.032613|.	T|.	0.37544|.	0.1007|.	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.08055|.	0.003|.	T|.	0.29181|.	-1.0020|.	10|.	0.48119|.	T|.	0.1|.	.|.	4.6306|4.6306	0.12500|0.12500	0.0839:0.2435:0.538:0.1346|0.0839:0.2435:0.538:0.1346	.|.	888|.	Q6ZMQ8|.	LMTK1_HUMAN|.	L|X	888;852|841	ENSP00000324196:P888L;ENSP00000363924:P852L|.	ENSP00000324196:P888L|.	P|Q	-|-	2|1	0|0	AATK|AATK	76709668|76709668	0.986000|0.986000	0.35501|0.35501	0.005000|0.005000	0.12908|0.12908	0.141000|0.141000	0.21300|0.21300	2.442000|2.442000	0.44873|0.44873	0.875000|0.875000	0.35847|0.35847	0.462000|0.462000	0.41574|0.41574	CCA|CAG		0.657	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		4	28	0	0	0	0.184627	0	4	28				
CDH13	1012	broad.mit.edu	37	16	83065808	83065808	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:83065808C>G	ENST00000566620.1	+	3	641	c.351C>G	c.(349-351)atC>atG	p.I117M	CDH13_ENST00000565636.1_Missense_Mutation_p.I117M|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.I117M|CDH13_ENST00000446376.2_Missense_Mutation_p.I117M|CDH13_ENST00000268613.10_Missense_Mutation_p.I164M|CDH13_ENST00000431540.3_Missense_Mutation_p.I117M	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	117					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGAAAGACATCCAGGGCTCCT	0.468																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(349-351)atC>atG		cadherin 13							47.0	48.0	48.0					16																	83065808		1941	4129	6070	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83065808C>G	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.351C>G	16.37:g.83065808C>G	ENSP00000454435:p.Ile117Met					CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000565636.1_Missense_Mutation_p.I117M|CDH13_ENST00000446376.2_Missense_Mutation_p.I117M|CDH13_ENST00000428848.3_Missense_Mutation_p.I117M|CDH13_ENST00000268613.10_Missense_Mutation_p.I164M|CDH13_ENST00000431540.3_Missense_Mutation_p.I117M	p.I117M	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	3	641	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	117					A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.351C>G	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	7.048	0.563846	0.13498	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000431540;ENST00000446376	T;T;T;T	0.57907	0.39;0.37;0.93;0.94	5.38	4.43	0.53597	Cadherin-like (1);	.	.	.	.	T	0.40094	0.1103	N	0.08118	0	0.22280	N	0.999235	D;P;D;P	0.58970	0.984;0.9;0.978;0.539	P;B;P;B	0.54312	0.748;0.423;0.598;0.086	T	0.11665	-1.0578	9	0.38643	T	0.18	.	4.312	0.10976	0.2578:0.5319:0.1324:0.0779	.	117;164;117;117	B7Z590;B7Z9B1;A8W477;P55290	.;.;.;CAD13_HUMAN	M	164;117;117;117;117	ENSP00000268613:I164M;ENSP00000394557:I117M;ENSP00000408632:I117M;ENSP00000388804:I117M	ENSP00000268613:I164M	I	+	3	3	CDH13	81623309	0.970000	0.33590	1.000000	0.80357	0.495000	0.33615	-0.055000	0.11807	1.407000	0.46875	0.491000	0.48974	ATC		0.468	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		10	24	0	0	0	0.335167	0	10	24				
PKHD1	5314	broad.mit.edu	37	6	51947979	51947979	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:51947979C>T	ENST00000371117.3	-	3	402	c.127G>A	c.(127-129)Gat>Aat	p.D43N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D43N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	43	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACCTACCATCAAAAATGACT	0.398																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(127-129)Gat>Aat		polycystic kidney and hepatic disease 1 (autosomal recessive)							133.0	111.0	118.0					6																	51947979		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947979C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.127G>A	6.37:g.51947979C>T	ENSP00000360158:p.Asp43Asn					PKHD1_ENST00000340994.4_Missense_Mutation_p.D43N	p.D43N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			3	402	-	Lung NSC(77;0.0605)		43			IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.127G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913336	0.72983	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87103	-2.01;-2.21	5.51	5.51	0.81932	.	0.082778	0.50627	D	0.000115	D	0.86661	0.5986	L	0.49350	1.555	0.36658	D	0.877805	P;D	0.76494	0.687;0.999	B;D	0.66084	0.301;0.941	T	0.83324	-0.0016	10	0.09338	T	0.73	.	16.5687	0.84605	0.0:1.0:0.0:0.0	.	43;43	P08F94-2;P08F94	.;PKHD1_HUMAN	N	43	ENSP00000360158:D43N;ENSP00000341097:D43N	ENSP00000341097:D43N	D	-	1	0	PKHD1	52055938	0.999000	0.42202	1.000000	0.80357	0.861000	0.49209	2.086000	0.41643	2.605000	0.88082	0.563000	0.77884	GAT		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		13	117	0	0	0	0.479597	0	13	117				
ZC2HC1A	51101	broad.mit.edu	37	8	79598823	79598823	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:79598823C>T	ENST00000263849.4	+	4	434	c.332C>T	c.(331-333)cCt>cTt	p.P111L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	111							metal ion binding (GO:0046872)										CCTCCTCCTCCTCCACCTTCT	0.378																																						ENST00000263849.4																			0											c.(331-333)cCt>cTt		zinc finger, C2HC-type containing 1A							61.0	59.0	60.0					8																	79598823		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79598823C>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.332C>T	8.37:g.79598823C>T	ENSP00000263849:p.Pro111Leu					ZC2HC1A_ENST00000521176.1_3'UTR	p.P111L	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			4	434	+			111					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.332C>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951684	0.92660	.	.	ENSG00000104427	ENST00000263849	T	0.52754	0.65	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71206	-0.4661	9	.	.	.	-17.3761	19.429	0.94756	0.0:1.0:0.0:0.0	.	111	Q96GY0	F164A_HUMAN	L	111	ENSP00000263849:P111L	.	P	+	2	0	FAM164A	79761378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.223000	0.78033	2.667000	0.90743	0.585000	0.79938	CCT		0.378	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		13	50	0	0	0	0.479597	0	13	50				
SPINT1	6692	broad.mit.edu	37	15	41145416	41145416	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:41145416C>A	ENST00000344051.4	+	3	804	c.570C>A	c.(568-570)cgC>cgA	p.R190R	SPINT1_ENST00000562057.1_Silent_p.R190R|SPINT1_ENST00000431806.1_Silent_p.R190R			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	190					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CAGATTGGCGCCTACTGCGGG	0.617																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(568-570)cgC>cgA		serine peptidase inhibitor, Kunitz type 1							130.0	124.0	126.0					15																	41145416		2203	4300	6503	SO:0001819	synonymous_variant	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41145416C>A		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.570C>A	15.37:g.41145416C>A						SPINT1_ENST00000562057.1_Silent_p.R190R|SPINT1_ENST00000431806.1_Silent_p.R190R	p.R190R			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	3	804	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	190					Q7Z7D2	Silent	SNP	ENST00000344051.4	37	c.570C>A	CCDS10067.1																																																																																				0.617	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		46	145	1	0	2.24722e-20	0.870114	2.57528e-20	46	145				
ANKRD52	283373	broad.mit.edu	37	12	56638175	56638175	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:56638175C>T	ENST00000267116.7	-	25	2888	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	923										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTCTTGTTCTCATCCAACACA	0.507																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2767-2769)Gag>Aag		ankyrin repeat domain 52							102.0	98.0	99.0					12																	56638175		1977	4163	6140	SO:0001583	missense	283373						protein binding	g.chr12:56638175C>T	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2767G>A	12.37:g.56638175C>T	ENSP00000267116:p.Glu923Lys					ANKRD52_ENST00000548241.1_5'UTR	p.E923K	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			25	2888	-			923					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2767G>A	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866497	0.17250	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.14640	2.49	4.14	4.14	0.48551	Ankyrin repeat-containing domain (3);	0.485966	0.22015	N	0.065805	T	0.04543	0.0124	N	0.02751	-0.505	0.36420	D	0.864273	B	0.02656	0.0	B	0.09377	0.004	T	0.24977	-1.0145	10	0.02654	T	1	.	9.9661	0.41725	0.0:0.9035:0.0:0.0965	.	923	Q8NB46	ANR52_HUMAN	K	923	ENSP00000267116:E923K	ENSP00000267116:E923K	E	-	1	0	ANKRD52	54924442	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	2.493000	0.45320	2.586000	0.87340	0.655000	0.94253	GAG		0.507	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		17	47	0	0	0	0.539581	0	17	47				
ZNF451	26036	broad.mit.edu	37	6	56999545	56999545	+	Silent	SNP	C	C	T	rs553810275		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:56999545C>T	ENST00000370706.4	+	7	823	c.579C>T	c.(577-579)ttC>ttT	p.F193F	RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F193F|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Silent_p.F193F|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F193F(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAGTAGGTTCGATCACTCTC	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19522	0.0		0.0	False		,,,				2504	0.0					ENST00000370706.4																			2	Substitution - coding silent(2)	p.F193F(2)	prostate(2)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(577-579)ttC>ttT		zinc finger protein 451							112.0	97.0	102.0					6																	56999545		2203	4300	6503	SO:0001819	synonymous_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56999545C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.579C>T	6.37:g.56999545C>T						RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F193F|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.F193F|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	p.F193F	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		7	823	+	Lung NSC(77;0.145)		193					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	c.579C>T	CCDS43477.1																																																																																				0.353	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		32	96	0	0	0	0.788014	0	32	96				
DGCR2	9993	broad.mit.edu	37	22	19050747	19050747	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:19050747G>A	ENST00000263196.7	-	5	840	c.593C>T	c.(592-594)tCc>tTc	p.S198F	DGCR2_ENST00000537045.1_Missense_Mutation_p.S157F|DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000545799.1_Missense_Mutation_p.S195F	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACCTTCCAAGGAGCGGTTCCG	0.582																																						ENST00000545799.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(583-585)tCc>tTc		DiGeorge syndrome critical region gene 2							110.0	85.0	93.0					22																	19050747		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19050747G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.593C>T	22.37:g.19050747G>A	ENSP00000263196:p.Ser198Phe					DGCR2_ENST00000263196.7_Missense_Mutation_p.S198F|DGCR2_ENST00000537045.1_Missense_Mutation_p.S157F|DGCR2_ENST00000473832.1_5'UTR	p.S195F			P98153	IDD_HUMAN			5	784	-	Colorectal(54;0.0993)		198			C-type lectin.		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.584C>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133495	0.77662	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;T;T	0.20598	2.06;2.06;2.06	5.66	5.66	0.87406	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.107006	0.64402	D	0.000003	T	0.50531	0.1621	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.949	T	0.52200	-0.8607	10	0.87932	D	0	.	19.3521	0.94393	0.0:0.0:1.0:0.0	.	154;198	B7Z3T5;P98153	.;IDD_HUMAN	F	157;198;195;198	ENSP00000440062:S157F;ENSP00000263196:S198F;ENSP00000445069:S195F	ENSP00000263196:S198F	S	-	2	0	DGCR2	17430747	1.000000	0.71417	0.996000	0.52242	0.292000	0.27327	9.697000	0.98697	2.667000	0.90743	0.563000	0.77884	TCC		0.582	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		10	42	0	0	0	0.411799	0	10	42				
CTNND2	1501	broad.mit.edu	37	5	11384811	11384811	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:11384811G>C	ENST00000304623.8	-	7	1332	c.1143C>G	c.(1141-1143)gcC>gcG	p.A381A	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.A381A|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.A290A|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	381					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGGTGGCCGTGGCATACAGCT	0.697																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1141-1143)gcC>gcG		catenin (cadherin-associated protein), delta 2							36.0	31.0	33.0					5																	11384811		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11384811G>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1143C>G	5.37:g.11384811G>C						CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.A381A|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000511377.1_Silent_p.A290A	p.A381A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			7	1332	-			381					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1143C>G	CCDS3881.1																																																																																				0.697	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		10	30	0	0	0	0.411799	0	10	30				
ACAD8	27034	broad.mit.edu	37	11	134131693	134131693	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:134131693G>A	ENST00000281182.4	+	9	1107	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ACAD8_ENST00000537423.1_Missense_Mutation_p.R257H|ACAD8_ENST00000374752.4_Missense_Mutation_p.R207H|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	334			R -> C (in IBDD). {ECO:0000269|PubMed:16857760}.		branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	CTGATGGTCCGCAATGCAGCA	0.557																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1000-1002)cGc>cAc		acyl-CoA dehydrogenase family, member 8							118.0	93.0	101.0					11																	134131693		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134131693G>A	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.1001G>A	11.37:g.134131693G>A	ENSP00000281182:p.Arg334His					ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.R257H|ACAD8_ENST00000374752.4_Missense_Mutation_p.R207H|ACAD8_ENST00000524547.1_3'UTR	p.R334H	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	9	1107	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	334		R -> C (in IBDD).			B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.1001G>A	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919340	0.73098	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000374752	D;D;D	0.96104	-3.91;-3.91;-3.91	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96216	0.8766	L	0.31526	0.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.96110	0.9076	10	0.46703	T	0.11	.	19.816	0.96568	0.0:0.0:1.0:0.0	.	257;207;334	B7Z5W4;Q6ZWP6;Q9UKU7	.;.;ACAD8_HUMAN	H	334;257;207	ENSP00000281182:R334H;ENSP00000443763:R257H;ENSP00000363884:R207H	ENSP00000281182:R334H	R	+	2	0	ACAD8	133636903	1.000000	0.71417	0.968000	0.41197	0.129000	0.20672	7.883000	0.87264	2.687000	0.91594	0.561000	0.74099	CGC		0.557	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		3	33	0	0	0	0.115264	0	3	33				
TTC37	9652	broad.mit.edu	37	5	94849321	94849321	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:94849321T>A	ENST00000358746.2	-	27	3030	c.2732A>T	c.(2731-2733)tAt>tTt	p.Y911F	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	911						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CATGGTGTCATAACTTCCAAC	0.328																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(2731-2733)tAt>tTt		tetratricopeptide repeat domain 37							109.0	107.0	108.0					5																	94849321		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94849321T>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2732A>T	5.37:g.94849321T>A	ENSP00000351596:p.Tyr911Phe					TTC37_ENST00000515176.1_5'UTR	p.Y911F	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			27	3030	-			911					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.2732A>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.917047	0.73098	.	.	ENSG00000198677	ENST00000358746	T	0.52983	0.64	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.062472	0.64402	D	0.000003	T	0.53610	0.1807	L	0.60455	1.87	0.53005	D	0.999961	D	0.57257	0.979	P	0.51806	0.68	T	0.48958	-0.8988	10	0.15066	T	0.55	.	15.9616	0.79933	0.0:0.0:0.0:1.0	.	911	Q6PGP7	TTC37_HUMAN	F	911	ENSP00000351596:Y911F	ENSP00000351596:Y911F	Y	-	2	0	TTC37	94875077	1.000000	0.71417	0.998000	0.56505	0.680000	0.39746	7.606000	0.82863	2.231000	0.72958	0.397000	0.26171	TAT		0.328	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		28	59	0	0	0	0.750413	0	28	59				
TACR3	6870	broad.mit.edu	37	4	104511031	104511031	+	Silent	SNP	G	G	A	rs201120800		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:104511031G>A	ENST00000304883.2	-	5	1346	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	402					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGTCACGGTGTACATAC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18887	0.0		0.0	False		,,,				2504	0.001					ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1204-1206)acC>acT		tachykinin receptor 3		G		0,4406		0,0,2203	233.0	215.0	221.0		1206	-9.2	0.5	4		221	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TACR3	NM_001059.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		402/466	104511031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511031G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1206C>T	4.37:g.104511031G>A						RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	p.T402T	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1346	-		Hepatocellular(203;0.217)	402					Q0P510	Silent	SNP	ENST00000304883.2	37	c.1206C>T	CCDS3664.1																																																																																				0.502	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		88	281	0	0	0	0.870114	0	88	281				
LRRK1	79705	broad.mit.edu	37	15	101588744	101588744	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:101588744A>T	ENST00000388948.3	+	22	3540	c.3181A>T	c.(3181-3183)Acc>Tcc	p.T1061S	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.T1058S|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGAAAGTCACCATTTACAG	0.433																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3172-3174)Acc>Tcc		leucine-rich repeat kinase 1							118.0	116.0	117.0					15																	101588744		1862	4106	5968	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101588744A>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3181A>T	15.37:g.101588744A>T	ENSP00000373600:p.Thr1061Ser					RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.T1061S	p.T1058S			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		23	3572	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1061						Missense_Mutation	SNP	ENST00000388948.3	37	c.3172A>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	A	0.564	-0.844012	0.02671	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.72051	-0.6;-0.62	5.1	-3.15	0.05233	.	0.428043	0.25729	N	0.028697	T	0.37812	0.1017	N	0.04508	-0.205	0.19575	N	0.999969	B	0.30406	0.278	B	0.24974	0.057	T	0.39099	-0.9630	10	0.13108	T	0.6	.	9.8805	0.41231	0.4447:0.1045:0.4508:0.0	.	1061	Q38SD2	LRRK1_HUMAN	S	1061;1058	ENSP00000373600:T1061S;ENSP00000284395:T1058S	ENSP00000284395:T1058S	T	+	1	0	LRRK1	99406267	0.965000	0.33210	0.626000	0.29213	0.861000	0.49209	0.957000	0.29215	-1.472000	0.01883	-2.468000	0.00203	ACC		0.433	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		42	135	0	0	0	0.853193	0	42	135				
SCN8A	6334	broad.mit.edu	37	12	52056740	52056740	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:52056740G>A	ENST00000354534.6	+	2	317	c.139G>A	c.(139-141)Gac>Aac	p.D47N	SCN8A_ENST00000545061.1_Missense_Mutation_p.D47N|SCN8A_ENST00000550891.1_Missense_Mutation_p.D47N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	47					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCATCGGGAGGACGATGAGGA	0.552																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(139-141)Gac>Aac		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						92.0	99.0	96.0					12																	52056740		2061	4205	6266	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52056740G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.139G>A	12.37:g.52056740G>A	ENSP00000346534:p.Asp47Asn					SCN8A_ENST00000545061.1_Missense_Mutation_p.D47N|SCN8A_ENST00000550891.1_Missense_Mutation_p.D47N	p.D47N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	2	317	+			47					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.139G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054518	0.55218	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133	D;D;D;D	0.96011	-3.84;-3.88;-3.84;-3.7	5.12	4.24	0.50183	.	.	.	.	.	D	0.93203	0.7835	M	0.73217	2.22	0.52501	D	0.999952	P	0.35433	0.501	B	0.27608	0.081	D	0.92082	0.5673	9	0.33141	T	0.24	.	14.1241	0.65208	0.0721:0.0:0.9279:0.0	.	47	Q9UQD0	SCN8A_HUMAN	N	47	ENSP00000448415:D47N;ENSP00000346534:D47N;ENSP00000440360:D47N;ENSP00000347255:D47N	ENSP00000346534:D47N	D	+	1	0	SCN8A	50343007	0.898000	0.30612	0.905000	0.35620	0.999000	0.98932	2.972000	0.49256	1.545000	0.49373	0.655000	0.94253	GAC		0.552	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		43	111	0	0	0	0.834066	0	43	111				
PC	5091	broad.mit.edu	37	11	66620711	66620711	+	Splice_Site	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:66620711G>T	ENST00000393958.2	-	12	1605	c.1512C>A	c.(1510-1512)ctC>ctA	p.L504L	PC_ENST00000393955.2_Splice_Site_p.L504L|PC_ENST00000393960.1_Splice_Site_p.L504L|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	504					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGGCCAGACCGAGGTAGTGCA	0.617																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.e13+1		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						109.0	83.0	92.0					11																	66620711		2200	4295	6495	SO:0001630	splice_region_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66620711G>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1513+1C>A	11.37:g.66620711G>T						PC_ENST00000393955.2_Splice_Site_p.L504_splice|PC_ENST00000393958.2_Splice_Site_p.L504_splice	p.L504_splice	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	13	1793	-		Melanoma(852;0.0525)	504					B4DN00|Q16705	Splice_Site	SNP	ENST00000393958.2	37	c.1513_splice	CCDS8152.1																																																																																				0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	Silent	27	74	1	0	7.41945e-09	0.693898	7.92418e-09	27	74				
KCNJ1	3758	broad.mit.edu	37	11	128709328	128709328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:128709328C>T	ENST00000392664.2	-	2	984	c.868G>A	c.(868-870)Gac>Aac	p.D290N	KCNJ1_ENST00000440599.2_Missense_Mutation_p.D271N|KCNJ1_ENST00000324036.3_Missense_Mutation_p.D271N|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D271N|KCNJ1_ENST00000392665.2_Missense_Mutation_p.D271N	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	290					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	AATTCAAAGTCCTGCTGGAGA	0.478																																						ENST00000392665.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(811-813)Gac>Aac		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						69.0	67.0	67.0					11																	128709328		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709328C>T	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.868G>A	11.37:g.128709328C>T	ENSP00000376432:p.Asp290Asn					KCNJ1_ENST00000392664.2_Missense_Mutation_p.D290N|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D271N|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D271N|KCNJ1_ENST00000324036.3_Missense_Mutation_p.D271N	p.D271N	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	955	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	290					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.811G>A	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000727	0.93227	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.091468	0.85682	D	0.000000	D	0.95664	0.8590	M	0.65498	2.005	0.80722	D	1	P	0.51537	0.946	P	0.51453	0.67	D	0.95490	0.8568	10	0.56958	D	0.05	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	290	P48048	IRK1_HUMAN	N	271;271;271;271;290	ENSP00000376433:D271N;ENSP00000376434:D271N;ENSP00000406320:D271N;ENSP00000316233:D271N;ENSP00000376432:D290N	ENSP00000316233:D271N	D	-	1	0	KCNJ1	128214538	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	GAC		0.478	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		37	72	0	0	0	0.804634	0	37	72				
OSBPL6	114880	broad.mit.edu	37	2	179214036	179214036	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:179214036C>T	ENST00000190611.4	+	12	1449	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	OSBPL6_ENST00000409045.3_Missense_Mutation_p.P327L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P358L|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P362L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P383L|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P327L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P358L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	358					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGACTCCCCCTAGCCACCTC	0.438																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1072-1074)cCt>cTt		oxysterol binding protein-like 6							184.0	180.0	181.0					2																	179214036		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179214036C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1073C>T	2.37:g.179214036C>T	ENSP00000190611:p.Pro358Leu					OSBPL6_ENST00000315022.2_Missense_Mutation_p.P362L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P327L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P383L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P358L|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P327L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P358L	p.P358L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		12	1449	+			358					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1073C>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470614	0.84533	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000361154;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.12984	2.72;2.73;2.63;2.72;2.74;2.73;2.73	5.5	5.5	0.81552	.	0.170757	0.53938	D	0.000054	T	0.13670	0.0331	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.30146	0.055;0.168;0.102;0.168;0.07;0.27	B;B;B;B;B;B	0.28991	0.055;0.097;0.022;0.097;0.021;0.047	T	0.10451	-1.0629	10	0.18710	T	0.47	-13.5625	19.3979	0.94614	0.0:1.0:0.0:0.0	.	327;362;358;383;358;327	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	L	383;358;143;327;327;358;358;362	ENSP00000376293:P383L;ENSP00000352713:P358L;ENSP00000349591:P327L;ENSP00000387248:P327L;ENSP00000190611:P358L;ENSP00000386885:P358L;ENSP00000318723:P362L	ENSP00000190611:P358L	P	+	2	0	OSBPL6	178922282	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.553000	0.53713	2.595000	0.87683	0.655000	0.94253	CCT		0.438	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		83	278	0	0	0	0.870114	0	83	278				
KIF23	9493	broad.mit.edu	37	15	69733141	69733141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:69733141G>A	ENST00000260363.4	+	18	2219	c.2102G>A	c.(2101-2103)gGc>gAc	p.G701D	KIF23_ENST00000352331.4_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.G701D|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000537891.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	701					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATTTCCAACGGCCAGCAACTC	0.398																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2101-2103)gGc>gAc		kinesin family member 23							51.0	52.0	51.0					15																	69733141		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69733141G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2102G>A	15.37:g.69733141G>A	ENSP00000260363:p.Gly701Asp					KIF23_ENST00000537891.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.G701D|KIF23_ENST00000352331.4_Intron	p.G701D	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			18	2219	+			701					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2102G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694189	0.48202	.	.	ENSG00000137807	ENST00000260363;ENST00000395392	T;T	0.74737	-0.87;-0.87	5.5	4.57	0.56435	.	0.136685	0.49305	D	0.000147	T	0.52964	0.1767	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47995	-0.9073	10	0.12103	T	0.63	.	14.0584	0.64784	0.0:0.1508:0.8492:0.0	.	701	Q02241	KIF23_HUMAN	D	701	ENSP00000260363:G701D;ENSP00000378790:G701D	ENSP00000260363:G701D	G	+	2	0	KIF23	67520195	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.256000	0.51492	1.437000	0.47472	-0.181000	0.13052	GGC		0.398	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				3	68	0	0	0	0.115264	0	3	68				
SLC35F1	222553	broad.mit.edu	37	6	118228939	118228939	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:118228939C>A	ENST00000360388.4	+	1	251	c.50C>A	c.(49-51)gCc>gAc	p.A17D		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	17					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCGTCGCCAGCCCCGCCGAAC	0.746																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(49-51)gCc>gAc		solute carrier family 35, member F1							8.0	12.0	11.0					6																	118228939		1667	3604	5271	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118228939C>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.50C>A	6.37:g.118228939C>A	ENSP00000353557:p.Ala17Asp						p.A17D	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	1	251	+			17					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.50C>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190221	0.38707	.	.	ENSG00000196376	ENST00000360388	.	.	.	3.78	2.75	0.32379	.	.	.	.	.	T	0.10035	0.0246	N	0.14661	0.345	0.28269	N	0.924504	B	0.18461	0.028	B	0.16289	0.015	T	0.20107	-1.0285	8	0.12103	T	0.63	.	12.9482	0.58384	0.2384:0.7616:0.0:0.0	.	17	Q5T1Q4	S35F1_HUMAN	D	17	.	ENSP00000353557:A17D	A	+	2	0	SLC35F1	118335632	0.999000	0.42202	0.999000	0.59377	0.961000	0.63080	1.404000	0.34623	1.657000	0.50732	0.455000	0.32223	GCC		0.746	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		4	10	1	0	0.184627	0.184627	0.18701	4	10				
ZFHX4	79776	broad.mit.edu	37	8	77619978	77619978	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:77619978C>A	ENST00000521891.2	+	3	3236	c.2788C>A	c.(2788-2790)Ctc>Atc	p.L930I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L904I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L904I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L904I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	904					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L930V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGCGCTCTCTCCCTGAAGA	0.512										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.L930V(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2788-2790)Ctc>Atc		zinc finger homeobox 4							75.0	74.0	74.0					8																	77619978		2200	4298	6498	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77619978C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2788C>A	8.37:g.77619978C>A	ENSP00000430497:p.Leu930Ile	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L904I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L904I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L904I|ZFHX4_ENST00000517683.1_Intron	p.L930I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		3	3236	+			904					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2788C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662295	0.29515	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.28	5.28	0.74379	.	0.000000	0.38959	U	0.001515	T	0.67534	0.2903	L	0.47016	1.485	0.58432	D	0.999999	D;D;D;P	0.71674	0.997;0.998;0.998;0.843	D;D;D;P	0.77557	0.978;0.99;0.99;0.537	T	0.64807	-0.6320	10	0.42905	T	0.14	.	19.1043	0.93287	0.0:1.0:0.0:0.0	.	904;904;930;904	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	930;930;904;904;904	ENSP00000430497:L930I;ENSP00000399605:L904I;ENSP00000050961:L904I;ENSP00000430848:L904I	ENSP00000050961:L904I	L	+	1	0	ZFHX4	77782533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.264000	0.58859	2.761000	0.94854	0.585000	0.79938	CTC		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	53	1	0	6.40141e-05	0.387290	6.70014e-05	12	53				
HCN1	348980	broad.mit.edu	37	5	45396672	45396672	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:45396672G>C	ENST00000303230.4	-	4	1209	c.1152C>G	c.(1150-1152)acC>acG	p.T384T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	384					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGCATAGCAGGTGGCCCCGA	0.507																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1150-1152)acC>acG		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							88.0	75.0	79.0					5																	45396672		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396672G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1152C>G	5.37:g.45396672G>C							p.T384T	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			4	1209	-			384						Silent	SNP	ENST00000303230.4	37	c.1152C>G	CCDS3952.1																																																																																				0.507	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		23	76	0	0	0	0.639603	0	23	76				
MYPN	84665	broad.mit.edu	37	10	69908207	69908207	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:69908207G>T	ENST00000358913.5	+	5	1716	c.1228G>T	c.(1228-1230)Gtg>Ttg	p.V410L	MYPN_ENST00000373675.3_Missense_Mutation_p.V410L|MYPN_ENST00000354393.2_Missense_Mutation_p.V135L|MYPN_ENST00000540630.1_Missense_Mutation_p.V410L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	410	Interaction with CARP.		V -> A (in CHM22; dbSNP:rs199476406). {ECO:0000269|PubMed:22286171}.		sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCAACCTCGTGTGGCAACCAT	0.527																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(1228-1230)Gtg>Ttg		myopalladin							108.0	84.0	92.0					10																	69908207		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69908207G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1228G>T	10.37:g.69908207G>T	ENSP00000351790:p.Val410Leu					MYPN_ENST00000540630.1_Missense_Mutation_p.V410L|MYPN_ENST00000354393.2_Missense_Mutation_p.V135L|MYPN_ENST00000373675.3_Missense_Mutation_p.V410L	p.V410L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			5	1716	+			410			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1228G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367427	0.24771	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.60797	0.42;0.54;0.51;0.16	5.75	4.82	0.62117	.	0.585256	0.17894	N	0.158425	T	0.39708	0.1088	N	0.16478	0.41	0.25934	N	0.982952	B;B;B;B	0.12630	0.004;0.006;0.002;0.001	B;B;B;B	0.14578	0.004;0.011;0.004;0.002	T	0.11397	-1.0589	9	.	.	.	.	12.2213	0.54435	0.0:0.0:0.831:0.169	.	410;410;135;410	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	L	135;135;410;410;410	ENSP00000346369:V135L;ENSP00000351790:V410L;ENSP00000441668:V410L;ENSP00000362779:V410L	.	V	+	1	0	MYPN	69578213	0.996000	0.38824	0.928000	0.36995	0.529000	0.34654	2.963000	0.49184	2.705000	0.92388	0.655000	0.94253	GTG		0.527	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		23	67	1	0	2.32416e-17	0.624587	2.60638e-17	23	67				
MAU2	23383	broad.mit.edu	37	19	19431858	19431858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:19431858G>A	ENST00000392313.6	+	1	369	c.190G>A	c.(190-192)Gag>Aag	p.E64K	MAU2_ENST00000262815.8_Missense_Mutation_p.E64K|SUGP1_ENST00000334782.5_5'Flank|SUGP1_ENST00000247001.5_5'Flank|SUGP1_ENST00000585763.1_5'Flank	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	64	Sufficient for interaction with NIPBL.				maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCAGCGCATCGAGGCCCGTAC	0.672																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(190-192)Gag>Aag		MAU2 sister chromatid cohesion factor							25.0	29.0	28.0					19																	19431858		2077	4228	6305	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19431858G>A	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.190G>A	19.37:g.19431858G>A	ENSP00000376127:p.Glu64Lys					MAU2_ENST00000262815.8_Missense_Mutation_p.E64K	p.E64K	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			1	236	+			64			Sufficient for interaction with NIPBL.		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.190G>A	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	37	6.102059	0.97286	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.77620	-1.11;-1.11	5.31	5.31	0.75309	.	0.000000	0.85682	U	0.000000	D	0.84561	0.5499	M	0.76574	2.34	0.80722	D	1	D	0.64830	0.994	P	0.53809	0.735	D	0.86721	0.1942	10	0.72032	D	0.01	.	17.548	0.87867	0.0:0.0:1.0:0.0	.	64	Q9Y6X3	SCC4_HUMAN	K	64	ENSP00000376127:E64K;ENSP00000262815:E64K	ENSP00000262815:E64K	E	+	1	0	MAU2	19292858	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.674000	0.91191	2.511000	0.84671	0.561000	0.74099	GAG		0.672	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		6	21	0	0	0	0.307466	0	6	21				
RXFP1	59350	broad.mit.edu	37	4	159560442	159560442	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:159560442C>G	ENST00000307765.5	+	14	1325	c.1074C>G	c.(1072-1074)atC>atG	p.I358M	RXFP1_ENST00000448688.2_Missense_Mutation_p.I253M|RXFP1_ENST00000460056.2_Missense_Mutation_p.I277M|RXFP1_ENST00000470033.1_Missense_Mutation_p.I325M|RXFP1_ENST00000343542.5_Missense_Mutation_p.I310M	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	358					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TTTCAAATATCCAACAAAGGA	0.274																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1072-1074)atC>atG		relaxin/insulin-like family peptide receptor 1							96.0	89.0	91.0					4																	159560442		1808	4052	5860	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159560442C>G	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1074C>G	4.37:g.159560442C>G	ENSP00000303248:p.Ile358Met					RXFP1_ENST00000448688.2_Missense_Mutation_p.I253M|RXFP1_ENST00000460056.2_Missense_Mutation_p.I277M|RXFP1_ENST00000343542.5_Missense_Mutation_p.I310M|RXFP1_ENST00000470033.1_Missense_Mutation_p.I325M	p.I358M	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	14	1325	+	all_hematologic(180;0.24)	Renal(120;0.0854)	358					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1074C>G	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943510	0.53079	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;D;T	0.85013	3.43;3.43;-0.58;-1.93;3.43	5.23	2.29	0.28610	.	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	M	0.84511	2.7	0.47819	D	0.999523	D;D;P;D;P;P;D;P	0.61080	0.97;0.989;0.949;0.983;0.929;0.879;0.97;0.949	P;P;P;P;P;P;P;P	0.58721	0.688;0.844;0.596;0.835;0.771;0.54;0.688;0.692	D	0.86742	0.1955	10	0.48119	T	0.1	.	8.007	0.30332	0.0:0.6482:0.0:0.3518	.	369;385;253;310;325;277;228;358	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	M	277;358;253;310;325;228	ENSP00000423306:I277M;ENSP00000303248:I358M;ENSP00000414885:I253M;ENSP00000345889:I310M;ENSP00000420712:I325M	ENSP00000303248:I358M	I	+	3	3	RXFP1	159779892	0.793000	0.28825	1.000000	0.80357	0.976000	0.68499	-0.124000	0.10595	0.114000	0.18032	-0.136000	0.14681	ATC		0.274	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		14	75	0	0	0	0.520397	0	14	75				
ZNF292	23036	broad.mit.edu	37	6	87969024	87969024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:87969024C>T	ENST00000369577.3	+	8	5720	c.5677C>T	c.(5677-5679)Caa>Taa	p.Q1893*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q1888*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1893						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATAAACATTCAATTTAATGA	0.353																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5677-5679)Caa>Taa		zinc finger protein 292							47.0	48.0	48.0					6																	87969024		1903	4122	6025	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969024C>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5677C>T	6.37:g.87969024C>T	ENSP00000358590:p.Gln1893*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q1888*	p.Q1893*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5720	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1893					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.5677C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	42	9.692607	0.99240	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.87	5.87	0.94306	.	0.345894	0.34906	N	0.003587	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	.	.	.	X	1893;1888	.	ENSP00000342847:Q1888X	Q	+	1	0	ZNF292	88025743	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.283000	0.58977	2.941000	0.99782	0.655000	0.94253	CAA		0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		23	63	0	0	0	0.624587	0	23	63				
ITGB6	3694	broad.mit.edu	37	2	161030575	161030575	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:161030575G>A	ENST00000283249.2	-	5	906	c.669C>T	c.(667-669)ttC>ttT	p.F223F	ITGB6_ENST00000428609.2_Silent_p.F181F|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Silent_p.F223F|ITGB6_ENST00000409967.2_Silent_p.F223F	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	223	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAATTTCATTGAATCTTTCAG	0.353																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(667-669)ttC>ttT		integrin, beta 6							92.0	87.0	89.0					2																	161030575		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161030575G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.669C>T	2.37:g.161030575G>A						ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.F181F|ITGB6_ENST00000409872.1_Silent_p.F223F|ITGB6_ENST00000409967.2_Silent_p.F223F	p.F223F			P18564	ITB6_HUMAN			5	906	-			223			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.669C>T	CCDS2212.1																																																																																				0.353	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		17	52	0	0	0	0.520397	0	17	52				
SCN11A	11280	broad.mit.edu	37	3	38888755	38888755	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:38888755C>A	ENST00000302328.3	-	26	5004	c.4806G>T	c.(4804-4806)gtG>gtT	p.V1602V	SCN11A_ENST00000456224.3_Silent_p.V1564V|SCN11A_ENST00000450244.1_Silent_p.V1602V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1602					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCTAAAATCACAGCAATGT	0.413																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4804-4806)gtG>gtT		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						117.0	118.0	118.0					3																	38888755		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888755C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4806G>T	3.37:g.38888755C>A						SCN11A_ENST00000456224.3_Silent_p.V1564V|SCN11A_ENST00000302328.3_Silent_p.V1602V	p.V1602V			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5004	-			1602					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.4806G>T	CCDS33737.1																																																																																				0.413	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	123	1	0	0.00909568	0.150653	0.00933348	4	123				
TBPL1	9519	broad.mit.edu	37	6	134308158	134308158	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:134308158A>G	ENST00000237264.4	+	7	816	c.541A>G	c.(541-543)Agc>Ggc	p.S181G	TBPL1_ENST00000477527.1_3'UTR	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	181					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		TGTGTTTGAAAGCAGGAAAGA	0.398																																						ENST00000237264.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6						c.(541-543)Agc>Ggc		TBP-like 1							72.0	70.0	71.0					6																	134308158		2203	4300	6503	SO:0001583	missense	9519				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity	g.chr6:134308158A>G	AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.541A>G	6.37:g.134308158A>G	ENSP00000237264:p.Ser181Gly					TBPL1_ENST00000477527.1_3'UTR	p.S181G	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN		GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)	7	816	+	Colorectal(23;0.221)|Breast(56;0.247)		181					A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP	ENST00000237264.4	37	c.541A>G	CCDS5168.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.531426	0.45073	.	.	ENSG00000028839	ENST00000237264	.	.	.	5.94	5.94	0.96194	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	0.158248	0.64402	D	0.000001	T	0.35508	0.0934	L	0.29908	0.895	0.43698	D	0.996151	P	0.37038	0.579	B	0.35971	0.215	T	0.47341	-0.9125	9	0.87932	D	0	-0.5074	15.5752	0.76373	1.0:0.0:0.0:0.0	.	181	P62380	TBPL1_HUMAN	G	181	.	ENSP00000237264:S181G	S	+	1	0	TBPL1	134349851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.768000	0.68858	2.272000	0.75746	0.523000	0.50628	AGC		0.398	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042294.2			23	83	0	0	0	0.639603	0	23	83				
LOC645166	645166	broad.mit.edu	37	1	148932860	148932860	+	lincRNA	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:148932860G>C	ENST00000539543.1	+	0	116					NR_027355.2																						CCAGTACCAAGAGTTGGTGGG	0.622																																						ENST00000539543.1																			0																																																			645166							g.chr1:148932860G>C																													1.37:g.148932860G>C								NR_027355.1						0	116	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.622	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				17	268	0	0	0	0.539581	0	17	268				
FCGBP	8857	broad.mit.edu	37	19	40367904	40367904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:40367904G>T	ENST00000221347.6	-	29	13063	c.13056C>A	c.(13054-13056)tgC>tgA	p.C4352*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4352	TIL 10.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTTTTCTGGGCAGGTGATCT	0.617																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13054-13056)tgC>tgA		Fc fragment of IgG binding protein							35.0	45.0	41.0					19																	40367904		2182	4079	6261	SO:0001587	stop_gained	8857					extracellular region	protein binding	g.chr19:40367904G>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13056C>A	19.37:g.40367904G>T	ENSP00000221347:p.Cys4352*						p.C4352*	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13063	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4352			TIL 10.		O95784	Nonsense_Mutation	SNP	ENST00000221347.6	37	c.13056C>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	53	20.800618	0.99934	.	.	ENSG00000090920	ENST00000221347	.	.	.	4.28	2.16	0.27623	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3907	0.26909	0.2845:0.0:0.7155:0.0	.	.	.	.	X	4352	.	ENSP00000221347:C4352X	C	-	3	2	FCGBP	45059744	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	2.477000	0.45180	1.147000	0.42369	0.305000	0.20034	TGC		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		45	167	1	0	1.32136e-16	0.840704	1.4713e-16	45	167				
LGSN	51557	broad.mit.edu	37	6	63990490	63990490	+	Silent	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:63990490A>G	ENST00000370657.4	-	4	999	c.966T>C	c.(964-966)gaT>gaC	p.D322D	LGSN_ENST00000370658.5_Missense_Mutation_p.I182T			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	322					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTTTCTTCCTATCGACATCCC	0.438																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(544-546)aTa>aCa		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						81.0	82.0	81.0					6																	63990490		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990490A>G	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.966T>C	6.37:g.63990490A>G						LGSN_ENST00000370657.4_Silent_p.D322D	p.I182T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			5	578	-			346					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.545T>C	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.415849	0.01136	.	.	ENSG00000146166	ENST00000370658	T	0.22945	1.93	5.62	-4.86	0.03132	.	.	.	.	.	T	0.02193	0.0068	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42344	-0.9457	8	0.10636	T	0.68	-0.0764	3.701	0.08382	0.3742:0.1168:0.3961:0.1129	.	182	Q5TDP6-2	.	T	182	ENSP00000359692:I182T	ENSP00000359692:I182T	I	-	2	0	LGSN	64048449	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.330000	0.19715	-1.226000	0.02574	-2.551000	0.00177	ATA		0.438	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		33	81	0	0	0	0.750413	0	33	81				
OR2W5	441932	broad.mit.edu	37	1	247654496	247654496	+	RNA	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:247654496C>A	ENST00000522351.1	+	0	127							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCGGCCTGGACTGGAGAAAAT	0.488																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															167.0	152.0	157.0					1																	247654496		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654496C>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654496C>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	127	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.488	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		22	81	1	0	7.41877e-09	0.608945	7.92418e-09	22	81				
CD109	135228	broad.mit.edu	37	6	74516767	74516767	+	Missense_Mutation	SNP	C	C	G	rs141815508		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:74516767C>G	ENST00000287097.5	+	25	3273	c.3161C>G	c.(3160-3162)aCt>aGt	p.T1054S	CD109_ENST00000437994.2_Missense_Mutation_p.T1054S|CD109_ENST00000422508.2_Missense_Mutation_p.T977S			Q6YHK3	CD109_HUMAN	CD109 molecule	1054					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATATTGTAACTTCTCTCCTG	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18092	0.0		0.001	False		,,,				2504	0.0					ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3160-3162)aCt>aGt		CD109 molecule		C	SER/THR,SER/THR,SER/THR	0,4406		0,0,2203	91.0	91.0	91.0		3161,2930,3161	4.6	1.0	6	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	58,58,58	0,3,6500	GG,GC,CC		0.0349,0.0,0.0231	benign,benign,benign	1054/1429,977/1369,1054/1446	74516767	3,13003	2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74516767C>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3161C>G	6.37:g.74516767C>G	ENSP00000287097:p.Thr1054Ser					CD109_ENST00000287097.5_Missense_Mutation_p.T1054S|CD109_ENST00000422508.2_Missense_Mutation_p.T977S	p.T1054S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			25	3592	+			1054					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.3161C>G	CCDS4982.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.37	2.218186	0.39201	0.0	3.49E-4	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.32753	1.44;1.44;1.44	4.62	4.62	0.57501	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.165039	0.52532	D	0.000070	T	0.16085	0.0387	L	0.37507	1.11	0.28522	N	0.91302	B;B;B	0.31680	0.335;0.257;0.153	B;B;B	0.34301	0.122;0.13;0.179	T	0.08166	-1.0735	10	0.41790	T	0.15	.	18.0111	0.89224	0.0:1.0:0.0:0.0	.	977;1054;1054	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	S	1054;977;1054	ENSP00000388062:T1054S;ENSP00000404475:T977S;ENSP00000287097:T1054S	ENSP00000287097:T1054S	T	+	2	0	CD109	74573488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.570000	0.60872	2.561000	0.86390	0.650000	0.86243	ACT		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		16	51	0	0	0	0.539581	0	16	51				
SCO2	9997	broad.mit.edu	37	22	50962708	50962708	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962708C>T	ENST00000543927.1	-	2	339	c.133G>A	c.(133-135)Gag>Aag	p.E45K	SCO2_ENST00000252785.3_Missense_Mutation_p.E45K|SCO2_ENST00000535425.1_Missense_Mutation_p.E45K|SCO2_ENST00000395693.3_Missense_Mutation_p.E45K|CTA-384D8.36_ENST00000608319.1_RNA	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	45					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTGTCTCTGCAGGGCCC	0.692																																						ENST00000543927.1																			0				endometrium(1)|lung(1)	2						c.(133-135)Gag>Aag		SCO2 cytochrome c oxidase assembly protein							20.0	24.0	23.0					22																	50962708		2187	4236	6423	SO:0001583	missense	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962708C>T	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.133G>A	22.37:g.50962708C>T	ENSP00000444433:p.Glu45Lys					SCO2_ENST00000395693.3_Missense_Mutation_p.E45K|SCO2_ENST00000535425.1_Missense_Mutation_p.E45K|SCO2_ENST00000252785.3_Missense_Mutation_p.E45K	p.E45K	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	339	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	45					Q3T1B5|Q9UK87	Missense_Mutation	SNP	ENST00000543927.1	37	c.133G>A	CCDS14095.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850483	0.17034	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785;ENST00000439934;ENST00000423348	D;D;D;D;T;T	0.83673	-1.75;-1.75;-1.75;-1.75;-0.59;-0.59	3.38	3.38	0.38709	.	1.541730	0.04355	N	0.356444	T	0.71753	0.3377	L	0.27053	0.805	0.09310	N	1	B	0.24186	0.099	B	0.17433	0.018	T	0.55579	-0.8119	10	0.02654	T	1	.	10.4465	0.44497	0.0:1.0:0.0:0.0	.	45	O43819	SCO2_HUMAN	K	45	ENSP00000379046:E45K;ENSP00000444433:E45K;ENSP00000444242:E45K;ENSP00000252785:E45K;ENSP00000415642:E45K;ENSP00000403570:E45K	ENSP00000252785:E45K	E	-	1	0	SCO2	49309574	0.000000	0.05858	0.008000	0.14137	0.106000	0.19336	0.568000	0.23623	1.910000	0.55303	0.563000	0.77884	GAG		0.692	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		29	63	0	0	0	0.804634	0	29	63				
CYP24A1	1591	broad.mit.edu	37	20	52779266	52779266	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:52779266G>T	ENST00000216862.3	-	7	1373	c.980C>A	c.(979-981)gCg>gAg	p.A327E	CYP24A1_ENST00000395954.3_Missense_Mutation_p.A185E|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A327E	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	327					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CGTTTCCACCGCAGCCAGCTG	0.418																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(979-981)gCg>gAg		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						60.0	58.0	59.0					20																	52779266		2203	4300	6503	SO:0001583	missense	1591				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52779266G>T	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.980C>A	20.37:g.52779266G>T	ENSP00000216862:p.Ala327Glu					CYP24A1_ENST00000395954.3_Missense_Mutation_p.A185E|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A327E	p.A327E	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		7	1373	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		327					Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	c.980C>A	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402484	0.42613	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.80393	-0.44;-0.44;-1.37	5.6	4.64	0.57946	.	0.106432	0.64402	D	0.000005	D	0.89448	0.6718	M	0.81942	2.565	0.37972	D	0.93332	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74674	0.984;0.984;0.958	D	0.92232	0.5793	10	0.87932	D	0	-22.6442	14.8644	0.70404	0.0:0.2904:0.7096:0.0	.	327;327;185	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	E	327;327;185	ENSP00000216862:A327E;ENSP00000379285:A327E;ENSP00000379284:A185E	ENSP00000216862:A327E	A	-	2	0	CYP24A1	52212673	0.993000	0.37304	0.527000	0.27925	0.140000	0.21249	2.715000	0.47210	1.346000	0.45694	-0.176000	0.13171	GCG		0.418	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			26	64	1	0	3.73148e-12	0.717897	4.0968e-12	26	64				
PIK3CD	5293	broad.mit.edu	37	1	9787005	9787005	+	Silent	SNP	G	G	A	rs374648959		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:9787005G>A	ENST00000377346.4	+	24	3231	c.3036G>A	c.(3034-3036)ctG>ctA	p.L1012L	PIK3CD_ENST00000361110.2_Silent_p.L1036L|PIK3CD_ENST00000536656.1_Silent_p.L1036L|CLSTN1_ENST00000477264.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	1012	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AGGAGGCACTGAAGCACTTCC	0.557																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(3106-3108)ctG>ctA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta		G		0,4406		0,0,2203	78.0	73.0	75.0		3036	-5.6	0.0	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIK3CD	NM_005026.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1012/1045	9787005	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9787005G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.3036G>A	1.37:g.9787005G>A						PIK3CD_ENST00000361110.2_Silent_p.L1036L|PIK3CD_ENST00000377346.4_Silent_p.L1012L	p.L1036L			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	24	3316	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1012			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.3108G>A	CCDS104.1																																																																																				0.557	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		13	31	0	0	0	0.435327	0	13	31				
MCHR2	84539	broad.mit.edu	37	6	100368869	100368869	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:100368869C>A	ENST00000281806.2	-	6	1284	c.970G>T	c.(970-972)Gcg>Tcg	p.A324S	MCHR2_ENST00000369212.2_Missense_Mutation_p.A324S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCTCAGTCGCTCTTCTTTGG	0.423																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(970-972)Gcg>Tcg		melanin-concentrating hormone receptor 2							149.0	157.0	155.0					6																	100368869		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100368869C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.970G>T	6.37:g.100368869C>A	ENSP00000281806:p.Ala324Ser					MCHR2_ENST00000369212.1_Missense_Mutation_p.A324S|MCHR2_ENST00000445970.1_Missense_Mutation_p.A324S	p.A324S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	1284	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	324					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.970G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.345297	0.01266	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.69806	-0.43;-0.43;-0.43	5.47	-1.51	0.08664	.	0.716164	0.11937	N	0.515147	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27157	-1.0082	10	0.10902	T	0.67	.	4.1838	0.10388	0.2487:0.368:0.0:0.3833	.	324	Q969V1	MCHR2_HUMAN	S	324	ENSP00000403490:A324S;ENSP00000281806:A324S;ENSP00000358214:A324S	ENSP00000281806:A324S	A	-	1	0	MCHR2	100475590	0.001000	0.12720	0.005000	0.12908	0.038000	0.13279	0.158000	0.16422	-0.214000	0.10078	-0.137000	0.14449	GCG		0.423	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		45	190	1	0	1.86633e-21	0.870114	2.15452e-21	45	190				
CAPZA1	829	broad.mit.edu	37	1	113189888	113189888	+	Silent	SNP	A	A	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:113189888A>C	ENST00000263168.3	+	2	768	c.96A>C	c.(94-96)gtA>gtC	p.V32V	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	32					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTAATGAAGTATTCAATGGTG	0.338																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(94-96)gtA>gtC		capping protein (actin filament) muscle Z-line, alpha 1							87.0	95.0	93.0					1																	113189888		2203	4297	6500	SO:0001819	synonymous_variant	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113189888A>C	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.96A>C	1.37:g.113189888A>C						CAPZA1_ENST00000476936.1_3'UTR	p.V32V	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	768	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	32					Q53FQ6|Q6FHD5	Silent	SNP	ENST00000263168.3	37	c.96A>C	CCDS30805.1																																																																																				0.338	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		56	87	0	0	0	0.870114	0	56	87				
CFHR5	81494	broad.mit.edu	37	1	196967390	196967390	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:196967390C>G	ENST00000256785.4	+	7	1212	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.S392*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	368	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TACAGGCACTCAGTCTGTATA	0.323																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1174-1176)tCa>tGa		complement factor H-related 5							44.0	42.0	43.0					1																	196967390		2203	4297	6500	SO:0001587	stop_gained	81494				complement activation, alternative pathway	extracellular region		g.chr1:196967390C>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1103C>G	1.37:g.196967390C>G	ENSP00000256785:p.Ser368*					CFHR5_ENST00000256785.4_Nonsense_Mutation_p.S368*	p.S392*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			7	1231	+			368			Sushi 7.		Q2NKK2	Nonsense_Mutation	SNP	ENST00000256785.4	37	c.1175C>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099448	0.56183	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.28	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.1746	0.42931	0.0:1.0:0.0:0.0	.	.	.	.	X	392;368	.	ENSP00000256785:S368X	S	+	2	0	CFHR5	195234013	0.001000	0.12720	0.004000	0.12327	0.094000	0.18550	0.991000	0.29654	1.824000	0.53156	0.289000	0.19496	TCA		0.323	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		14	49	0	0	0	0.457914	0	14	49				
CORO2B	10391	broad.mit.edu	37	15	69011053	69011053	+	Silent	SNP	C	C	T	rs3751554	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:69011053C>T	ENST00000566799.1	+	9	1013	c.984C>T	c.(982-984)caC>caT	p.H328H	CORO2B_ENST00000540068.1_Silent_p.H323H|CORO2B_ENST00000261861.5_Silent_p.H323H|CORO2B_ENST00000543950.1_Silent_p.H323H			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	328					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCCAAGCACGGGCTGGATG	0.592																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(967-969)caC>caT		coronin, actin binding protein, 2B		C	,,	3,4397	6.2+/-15.9	0,3,2197	79.0	59.0	66.0		969,969,984	0.7	1.0	15	dbSNP_107	66	4,8592	4.3+/-15.6	0,4,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	CORO2B	NM_001190456.1,NM_001190457.1,NM_006091.4	,,	0,7,6491	TT,TC,CC		0.0465,0.0682,0.0539	,,	323/476,323/476,328/481	69011053	7,12989	2200	4298	6498	SO:0001819	synonymous_variant	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011053C>T	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.984C>T	15.37:g.69011053C>T						CORO2B_ENST00000540068.1_Silent_p.H323H|CORO2B_ENST00000566799.1_Silent_p.H328H|CORO2B_ENST00000261861.5_Silent_p.H323H	p.H323H	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			9	1323	+			328					A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	c.969C>T	CCDS10229.2																																																																																				0.592	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		7	40	0	0	0	0.248553	0	7	40				
CEP19	84984	broad.mit.edu	37	3	196434583	196434583	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:196434583T>A	ENST00000399942.4	-	2	520	c.226A>T	c.(226-228)Aag>Tag	p.K76*	RNU6-646P_ENST00000364571.1_RNA|CEP19_ENST00000409690.3_Nonsense_Mutation_p.K115*			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	111						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						GCAAGCTCCTTGTCATCTAGT	0.398																																						ENST00000409690.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(343-345)Aag>Tag		centrosomal protein 19kDa							226.0	209.0	214.0					3																	196434583		1892	4110	6002	SO:0001587	stop_gained	84984					centriole|spindle pole		g.chr3:196434583T>A	BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.226A>T	3.37:g.196434583T>A	ENSP00000382823:p.Lys76*					CEP19_ENST00000399942.4_Nonsense_Mutation_p.K76*	p.K115*	NM_032898.3	NP_116287.2	Q96LK0	CEP19_HUMAN			3	765	-			111					B2RA74|Q96I48	Nonsense_Mutation	SNP	ENST00000399942.4	37	c.343A>T		.	.	.	.	.	.	.	.	.	.	T	37	6.621588	0.97714	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.56	5.56	0.83823	.	0.228865	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6241	16.021	0.80493	0.0:0.0:0.0:1.0	.	.	.	.	X	115;76	.	ENSP00000382823:K76X	K	-	1	0	CEP19	197918980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.452000	0.60054	2.240000	0.73641	0.533000	0.62120	AAG		0.398	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		66	330	0	0	0	0.870114	0	66	330				
MYH3	4621	broad.mit.edu	37	17	10543464	10543464	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:10543464G>A	ENST00000583535.1	-	22	2618	c.2531C>T	c.(2530-2532)gCa>gTa	p.A844V	MYH3_ENST00000226209.7_Missense_Mutation_p.A844V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	844					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCAGTCTCTGCACTCTTGAG	0.468																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(2530-2532)gCa>gTa		myosin, heavy chain 3, skeletal muscle, embryonic							143.0	132.0	136.0					17																	10543464		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543464G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2531C>T	17.37:g.10543464G>A	ENSP00000464317:p.Ala844Val					MYH3_ENST00000226209.7_Missense_Mutation_p.A844V	p.A844V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			22	2618	-			844					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2531C>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604510	0.66445	.	.	ENSG00000109063	ENST00000226209	D	0.83837	-1.77	5.54	5.54	0.83059	.	.	.	.	.	D	0.84804	0.5553	M	0.76328	2.33	0.54753	D	0.999988	B	0.24618	0.107	B	0.27170	0.077	T	0.81911	-0.0716	9	0.52906	T	0.07	.	19.8453	0.96705	0.0:0.0:1.0:0.0	.	844	P11055	MYH3_HUMAN	V	844	ENSP00000226209:A844V	ENSP00000226209:A844V	A	-	2	0	MYH3	10484189	1.000000	0.71417	0.706000	0.30403	0.766000	0.43426	4.367000	0.59498	2.754000	0.94517	0.655000	0.94253	GCA		0.468	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		50	86	0	0	0	0.870114	0	50	86				
ITPR1	3708	broad.mit.edu	37	3	4699938	4699938	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:4699938G>A	ENST00000443694.2	+	10	1082	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	ITPR1_ENST00000302640.8_Missense_Mutation_p.R361H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R376H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R376H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R361H|ITPR1_ENST00000423119.2_Missense_Mutation_p.R376H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	376	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACCACTCTGCGTGGAGGTGAC	0.493																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(1081-1083)cGt>cAt		inositol 1,4,5-trisphosphate receptor, type 1							108.0	106.0	107.0					3																	4699938		1946	4142	6088	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4699938G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1082G>A	3.37:g.4699938G>A	ENSP00000401671:p.Arg361His					ITPR1_ENST00000456211.2_Missense_Mutation_p.R361H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R376H|ITPR1_ENST00000423119.2_Missense_Mutation_p.R376H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R376H|ITPR1_ENST00000443694.2_Missense_Mutation_p.R361H	p.R361H	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	12	1432	+			376			MIR 4.		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.1082G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722954	0.68959	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.39	5.39	0.77823	MIR motif (1);MIR (2);	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	L	0.36672	1.1	0.80722	D	1	P;P;P	0.48834	0.641;0.81;0.916	P;P;B	0.46940	0.451;0.532;0.322	D	0.86028	0.1511	10	0.44086	T	0.13	.	19.171	0.93578	0.0:0.0:1.0:0.0	.	361;376;376	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	H	376;361;376;376;376;361;361	ENSP00000306253:R361H;ENSP00000346595:R376H;ENSP00000405934:R376H;ENSP00000349597:R376H;ENSP00000397885:R361H;ENSP00000401671:R361H	ENSP00000306253:R361H	R	+	2	0	ITPR1	4674938	1.000000	0.71417	0.908000	0.35775	0.859000	0.49053	6.699000	0.74613	2.525000	0.85131	0.655000	0.94253	CGT		0.493	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		20	44	0	0	0	0.592651	0	20	44				
UIMC1	51720	broad.mit.edu	37	5	176396609	176396609	+	Silent	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:176396609G>T	ENST00000377227.4	-	5	588	c.456C>A	c.(454-456)ctC>ctA	p.L152L	UIMC1_ENST00000506128.1_Silent_p.L152L|UIMC1_ENST00000377219.2_Silent_p.L152L|UIMC1_ENST00000503273.1_5'Flank|UIMC1_ENST00000511320.1_Silent_p.L152L			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	152	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCTTCAGTGAGCCCAGAGT	0.517																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(454-456)ctC>ctA		ubiquitin interaction motif containing 1							149.0	133.0	139.0					5																	176396609		2203	4300	6503	SO:0001819	synonymous_variant	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176396609G>T	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.456C>A	5.37:g.176396609G>T						UIMC1_ENST00000511320.1_Silent_p.L152L|UIMC1_ENST00000377227.4_Silent_p.L152L|UIMC1_ENST00000506128.1_Silent_p.L152L	p.L152L	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	622	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	152			Necessary for interaction with NR6A1 N- terminus.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	c.456C>A	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	G	4.423	0.078210	0.08485	.	.	ENSG00000087206	ENST00000323774	.	.	.	5.73	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	1.2875	9.8429	0.41010	0.0833:0.1444:0.7723:0.0	.	.	.	.	X	28	.	ENSP00000314909:S28X	S	-	2	0	UIMC1	176329215	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.417000	0.44653	2.701000	0.92244	0.561000	0.74099	TCA		0.517	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		23	22	1	0	1.36565e-18	0.639603	1.54249e-18	23	22				
MRGPRD	116512	broad.mit.edu	37	11	68748063	68748063	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:68748063G>C	ENST00000309106.3	-	1	392	c.393C>G	c.(391-393)atC>atG	p.I131M		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	131						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTTGAACCAGATAGGGAAGA	0.577																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(391-393)atC>atG		MAS-related GPR, member D							65.0	58.0	60.0					11																	68748063		2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748063G>C	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.393C>G	11.37:g.68748063G>C	ENSP00000310631:p.Ile131Met						p.I131M	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	392	-			131					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.393C>G	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	9.715	1.158037	0.21454	.	.	ENSG00000172938	ENST00000309106	T	0.37058	1.22	4.87	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.506034	0.16210	U	0.224518	T	0.60932	0.2307	M	0.80183	2.485	0.28681	N	0.905118	D	0.69078	0.997	D	0.75020	0.985	T	0.58891	-0.7556	10	0.72032	D	0.01	-21.387	12.9127	0.58189	0.0:0.1649:0.8351:0.0	.	131	Q8TDS7	MRGRD_HUMAN	M	131	ENSP00000310631:I131M	ENSP00000310631:I131M	I	-	3	3	MRGPRD	68504639	1.000000	0.71417	0.938000	0.37757	0.062000	0.15995	2.243000	0.43115	1.027000	0.39758	0.460000	0.39030	ATC		0.577	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		16	142	0	0	0	0.479597	0	16	142				
KIF3C	3797	broad.mit.edu	37	2	26203523	26203523	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:26203523G>T	ENST00000264712.3	-	1	1843	c.1264C>A	c.(1264-1266)Cct>Act	p.P422T	KIF3C_ENST00000405914.1_Missense_Mutation_p.P422T	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	422					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCCTCAGGGTACCCAGGC	0.662																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1264-1266)Cct>Act		kinesin family member 3C							60.0	67.0	65.0					2																	26203523		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203523G>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1264C>A	2.37:g.26203523G>T	ENSP00000264712:p.Pro422Thr					KIF3C_ENST00000405914.1_Missense_Mutation_p.P422T	p.P422T	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1843	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		422					O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.1264C>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	5.260	0.233341	0.09969	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.72725	-0.68;-0.68	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	N	0.14661	0.345	0.42224	D	0.99186	B;P	0.47762	0.165;0.9	B;B	0.43301	0.022;0.415	T	0.55405	-0.8146	10	0.19590	T	0.45	.	15.3948	0.74784	0.0:0.0:1.0:0.0	.	422;422	B7ZM25;O14782	.;KIF3C_HUMAN	T	422;228;422	ENSP00000264712:P422T;ENSP00000385030:P422T	ENSP00000264712:P422T	P	-	1	0	KIF3C	26057027	1.000000	0.71417	0.994000	0.49952	0.323000	0.28346	3.302000	0.51849	2.711000	0.92665	0.655000	0.94253	CCT		0.662	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			56	175	1	0	2.53126e-37	0.870114	2.98803e-37	56	175				
HMGA2	8091	broad.mit.edu	37	12	66221845	66221845	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:66221845G>T	ENST00000403681.2	+	2	1316	c.176G>T	c.(175-177)aGt>aTt	p.S59I	RPSAP52_ENST00000489520.2_RNA|HMGA2_ENST00000541363.1_Missense_Mutation_p.S59I|HMGA2_ENST00000393578.3_Missense_Mutation_p.S59I|HMGA2_ENST00000536545.1_Missense_Mutation_p.S59I|HMGA2_ENST00000425208.2_Missense_Mutation_p.S59I|HMGA2_ENST00000393577.3_Missense_Mutation_p.S59I|HMGA2_ENST00000354636.3_Missense_Mutation_p.S59I	NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	59	Interaction with E4F1.				adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AAAAACAAGAGTCCCTCTAAA	0.463			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""																																	ENST00000541363.1				Dom	yes		12	12q15	8091	T	high mobility group AT-hook 2 (HMGIC)			M	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""		"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""	HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	0				lung(2)	2						c.(175-177)aGt>aTt		high mobility group AT-hook 2							92.0	98.0	96.0					12																	66221845		2203	4300	6503	SO:0001583	missense	8091				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	g.chr12:66221845G>T	U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"""High-mobility group / Canonical"""	5009	protein-coding gene	gene with protein product		600698	"""high-mobility group (nonhistone chromosomal) protein isoform I-C"""	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.176G>T	12.37:g.66221845G>T	ENSP00000384026:p.Ser59Ile					HMGA2_ENST00000354636.3_Missense_Mutation_p.S59I|HMGA2_ENST00000403681.2_Missense_Mutation_p.S59I|HMGA2_ENST00000425208.2_Missense_Mutation_p.S59I|HMGA2_ENST00000536545.1_Missense_Mutation_p.S59I|HMGA2_ENST00000393578.3_Missense_Mutation_p.S59I|HMGA2_ENST00000393577.3_Missense_Mutation_p.S59I	p.S59I			P52926	HMGA2_HUMAN	GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)	2	549	+	all_cancers(1;5.78e-46)		59			Interaction with E4F1.		E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Missense_Mutation	SNP	ENST00000403681.2	37	c.176G>T	CCDS44936.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239347	0.79800	.	.	ENSG00000149948	ENST00000403681;ENST00000354636;ENST00000393578;ENST00000536545;ENST00000425208;ENST00000541363;ENST00000393577	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.17	5.17	0.71159	.	0.058529	0.64402	D	0.000002	T	0.60843	0.2300	M	0.62723	1.935	0.40369	D	0.979321	D;D;D;D;D	0.71674	0.989;0.994;0.995;0.998;0.995	P;P;P;P;P	0.62649	0.651;0.865;0.88;0.905;0.88	T	0.60234	-0.7303	9	.	.	.	-10.5018	19.058	0.93074	0.0:0.0:1.0:0.0	.	59;59;59;59;59	P52926;F5H2U8;Q1M182;F5H6H0;Q1M186	HMGA2_HUMAN;.;.;.;.	I	59	ENSP00000384026:S59I;ENSP00000346658:S59I;ENSP00000377206:S59I;ENSP00000437621:S59I;ENSP00000407306:S59I;ENSP00000439317:S59I;ENSP00000377205:S59I	.	S	+	2	0	HMGA2	64508112	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.000000	0.70678	2.578000	0.87016	0.650000	0.86243	AGT		0.463	HMGA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401654.1	NM_003483		17	70	1	0	4.14922e-12	0.500413	4.5238e-12	17	70				
PRKCH	5583	broad.mit.edu	37	14	61857999	61857999	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:61857999C>T	ENST00000332981.5	+	2	805	c.420C>T	c.(418-420)ttC>ttT	p.F140F	PRKCH_ENST00000555082.1_5'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	140					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCGGGAGTTTCACTGAAGGTA	0.338																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(418-420)ttC>ttT		protein kinase C, eta							85.0	85.0	85.0					14																	61857999		2203	4300	6503	SO:0001819	synonymous_variant	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:61857999C>T	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.420C>T	14.37:g.61857999C>T						PRKCH_ENST00000555082.1_5'UTR	p.F140F	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	2	805	+			140					B4DJN5|Q16246|Q8NE03	Silent	SNP	ENST00000332981.5	37	c.420C>T	CCDS9752.1																																																																																				0.338	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		28	86	0	0	0	0.760397	0	28	86				
SULT4A1	25830	broad.mit.edu	37	22	44234792	44234792	+	Nonsense_Mutation	SNP	G	G	A	rs199511302		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:44234792G>A	ENST00000330884.4	-	4	583	c.463C>T	c.(463-465)Cga>Tga	p.R155*	SULT4A1_ENST00000249130.5_Nonsense_Mutation_p.R155*|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	155					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		AAGGTGCCTCGGTAGCTCATG	0.537																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(463-465)Cga>Tga		sulfotransferase family 4A, member 1							98.0	82.0	87.0					22																	44234792		2203	4300	6503	SO:0001587	stop_gained	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44234792G>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.463C>T	22.37:g.44234792G>A	ENSP00000332565:p.Arg155*					SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Nonsense_Mutation_p.R155*	p.R155*	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	4	583	-		Ovarian(80;0.024)|all_neural(38;0.0416)	155					B2R7N3|O43728	Nonsense_Mutation	SNP	ENST00000330884.4	37	c.463C>T	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	G	39	7.655218	0.98415	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	.	.	.	4.82	3.75	0.43078	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	12.4765	0.55817	0.0:0.0:0.7167:0.2833	.	.	.	.	X	155	.	ENSP00000249130:R155X	R	-	1	2	SULT4A1	42566125	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.768000	0.55295	2.230000	0.72887	0.561000	0.74099	CGA		0.537	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		20	69	0	0	0	0.608945	0	20	69				
SLC34A3	142680	broad.mit.edu	37	9	140128317	140128317	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr9:140128317C>A	ENST00000538474.1	+	9	1073	c.849C>A	c.(847-849)acC>acA	p.T283T	SLC34A3_ENST00000361134.2_Silent_p.T283T	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	283					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCCCCAGACCCAGGAGAACA	0.687																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(847-849)acC>acA		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							15.0	16.0	16.0					9																	140128317		2194	4293	6487	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128317C>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.849C>A	9.37:g.140128317C>A						SLC34A3_ENST00000361134.2_Silent_p.T283T	p.T283T	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	9	1073	+	all_cancers(76;0.0926)		283					A2BFA1	Silent	SNP	ENST00000538474.1	37	c.849C>A	CCDS7038.1																																																																																				0.687	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		6	18	1	0	0.000274275	0.307466	0.000285173	6	18				
BMP4	652	broad.mit.edu	37	14	54418769	54418769	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:54418769C>T	ENST00000245451.4	-	3	565	c.172G>A	c.(172-174)Gag>Aag	p.E58K	BMP4_ENST00000417573.1_Missense_Mutation_p.E58K|BMP4_ENST00000558984.1_Missense_Mutation_p.E58K|BMP4_ENST00000559087.1_Missense_Mutation_p.E58K	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	58					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTGTCGCCTCGAAGTCCCGC	0.607																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(172-174)Gag>Aag		bone morphogenetic protein 4							42.0	46.0	45.0					14																	54418769		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54418769C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.172G>A	14.37:g.54418769C>T	ENSP00000245451:p.Glu58Lys					BMP4_ENST00000417573.1_Missense_Mutation_p.E58K|BMP4_ENST00000558984.1_Missense_Mutation_p.E58K|BMP4_ENST00000559087.1_Missense_Mutation_p.E58K	p.E58K	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			3	565	-			58					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.172G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522307	0.96431	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.66099	-0.19;-0.19	5.2	5.2	0.72013	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80803	0.4693	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83076	-0.0140	10	0.87932	D	0	.	17.9081	0.88926	0.0:1.0:0.0:0.0	.	58	P12644	BMP4_HUMAN	K	58	ENSP00000245451:E58K;ENSP00000394165:E58K	ENSP00000245451:E58K	E	-	1	0	BMP4	53488519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.589000	0.82641	2.717000	0.92951	0.655000	0.94253	GAG		0.607	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		29	81	0	0	0	0.729181	0	29	81				
WWC2	80014	broad.mit.edu	37	4	184203868	184203868	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:184203868A>G	ENST00000403733.3	+	18	2891	c.2692A>G	c.(2692-2694)Atg>Gtg	p.M898V	WWC2_ENST00000448232.2_Missense_Mutation_p.M922V|WWC2_ENST00000504005.1_Missense_Mutation_p.M580V|WWC2_ENST00000513834.1_Missense_Mutation_p.M849V|WWC2_ENST00000508747.1_Missense_Mutation_p.M26V	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	898					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TAGGCTAACAATGCTAAGAGA	0.413																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(2692-2694)Atg>Gtg		WW and C2 domain containing 2							42.0	40.0	41.0					4																	184203868		2199	4296	6495	SO:0001583	missense	80014							g.chr4:184203868A>G	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2692A>G	4.37:g.184203868A>G	ENSP00000384222:p.Met898Val					WWC2_ENST00000513834.1_Missense_Mutation_p.M849V|WWC2_ENST00000508747.1_Missense_Mutation_p.M26V|WWC2_ENST00000504005.1_Missense_Mutation_p.M580V|WWC2_ENST00000448232.2_Missense_Mutation_p.M922V	p.M898V	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	18	2891	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	898					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.2692A>G	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	A	0.482	-0.879315	0.02550	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005;ENST00000508747	T;T;T;T;T	0.22743	3.55;3.53;3.47;3.4;1.94	5.0	2.52	0.30459	.	0.195138	0.45126	D	0.000391	T	0.25644	0.0624	M	0.80422	2.495	0.58432	D	0.999999	B;B;B;B	0.18166	0.001;0.001;0.026;0.001	B;B;B;B	0.18561	0.001;0.003;0.022;0.0	T	0.04678	-1.0934	10	0.33141	T	0.24	-9.8969	10.685	0.45837	0.6613:0.3387:0.0:0.0	.	922;898;26;849	Q6AWC2-6;Q6AWC2;Q6AWC2-7;Q6AWC2-4	.;WWC2_HUMAN;.;.	V	898;849;922;580;26	ENSP00000384222:M898V;ENSP00000425054:M849V;ENSP00000398577:M922V;ENSP00000427569:M580V;ENSP00000420835:M26V	ENSP00000384222:M898V	M	+	1	0	WWC2	184440862	0.956000	0.32656	0.350000	0.25708	0.395000	0.30598	2.194000	0.42668	0.363000	0.24346	0.533000	0.62120	ATG		0.413	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		2	4	0	0	0	0.115264	0	2	4				
HEATR5B	54497	broad.mit.edu	37	2	37215951	37215951	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:37215951G>A	ENST00000233099.5	-	35	5844	c.5749C>T	c.(5749-5751)Cgt>Tgt	p.R1917C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1828C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1917						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAAAGGGCACGATTGGAATGC	0.358																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5749-5751)Cgt>Tgt		HEAT repeat containing 5B							105.0	110.0	108.0					2																	37215951		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37215951G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5749C>T	2.37:g.37215951G>A	ENSP00000233099:p.Arg1917Cys					HEATR5B_ENST00000354531.2_Missense_Mutation_p.R1828C	p.R1917C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			35	5844	-		all_hematologic(82;0.21)	1917					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.5749C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241514	0.79912	.	.	ENSG00000008869	ENST00000425467;ENST00000233099;ENST00000354531	T;T	0.65732	-0.17;-0.17	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.051442	0.85682	D	0.000000	T	0.70430	0.3223	M	0.61703	1.905	0.40770	D	0.983087	D;D	0.63046	0.992;0.992	P;P	0.54815	0.761;0.761	T	0.73620	-0.3925	10	0.56958	D	0.05	-11.3351	14.1413	0.65322	0.0:0.0:0.85:0.15	.	1917;1917	Q9P2D3;B9EK47	HTR5B_HUMAN;.	C	18;1917;1828	ENSP00000233099:R1917C;ENSP00000346531:R1828C	ENSP00000233099:R1917C	R	-	1	0	HEATR5B	37069455	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.183000	0.72002	2.619000	0.88677	0.491000	0.48974	CGT		0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		33	75	0	0	0	0.796494	0	33	75				
FBXO43	286151	broad.mit.edu	37	8	101153460	101153460	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:101153460A>T	ENST00000428847.2	-	2	1338	c.1022T>A	c.(1021-1023)tTg>tAg	p.L341*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	341					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGATTTCTCCAAGCTAAGTGA	0.428																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1021-1023)tTg>tAg		F-box protein 43							101.0	93.0	96.0					8																	101153460		1861	4105	5966	SO:0001587	stop_gained	286151				meiosis		zinc ion binding	g.chr8:101153460A>T	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1022T>A	8.37:g.101153460A>T	ENSP00000403293:p.Leu341*						p.L341*	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1338	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		341						Nonsense_Mutation	SNP	ENST00000428847.2	37	c.1022T>A	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	A	38	7.234634	0.98154	.	.	ENSG00000156509	ENST00000428847	.	.	.	5.57	1.75	0.24633	.	0.289778	0.33591	N	0.004750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0175	8.3292	0.32175	0.5331:0.3975:0.0694:0.0	.	.	.	.	X	341	.	ENSP00000403293:L341X	L	-	2	0	FBXO43	101222636	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	3.022000	0.49659	0.432000	0.26286	0.533000	0.62120	TTG		0.428	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		45	150	0	0	0	0.847076	0	45	150				
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1498-1500)aCa>aAa		zinc finger protein 623							77.0	77.0	77.0					8																	144733541		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733541C>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1499C>A	8.37:g.144733541C>A	ENSP00000445979:p.Thr500Lys					ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	p.T500K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1588	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		500					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1499C>A	CCDS34957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.25|11.25	1.581994|1.581994	0.28180|0.28180	.|.	.|.	ENSG00000183309|ENSG00000183309	ENST00000328466|ENST00000526926;ENST00000458270;ENST00000532796;ENST00000501748	.|T;T;T	.|0.60424	.|0.19;0.19;0.19	4.3|4.3	3.4|3.4	0.38934|0.38934	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.35038|0.35038	0.0918|0.0918	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.23650	.|0.089	.|B	.|0.14023	.|0.01	T|T	0.09684|0.09684	-1.0663|-1.0663	6|8	0.72032|.	D|.	0.01|.	-1.5887|-1.5887	7.2014|7.2014	0.25883|0.25883	0.0:0.7908:0.0:0.2092|0.0:0.7908:0.0:0.2092	.|.	.|500	.|O75123	.|ZN623_HUMAN	K|K	460|460;460;500;500	.|ENSP00000435232:T460K;ENSP00000411139:T460K;ENSP00000445979:T500K	ENSP00000330358:Q460K|.	Q|T	+|+	1|2	0|0	ZNF623|ZNF623	144804684|144804684	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.029000|0.029000	0.11900|0.11900	1.225000|1.225000	0.32551|0.32551	2.115000|2.115000	0.64714|0.64714	0.491000|0.491000	0.48974|0.48974	CAA|ACA		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		4	145	1	0	0.184627	0.184627	0.18701	4	145				
CAMKK2	10645	broad.mit.edu	37	12	121678561	121678561	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:121678561G>A	ENST00000324774.5	-	17	2536	c.1708C>T	c.(1708-1710)Ccc>Tcc	p.P570S	CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000538733.1_3'UTR|CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P527S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P570S|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_3'UTR|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P570S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	570					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGAGCCGGGGGCGGGGGCC	0.711																																						ENST00000324774.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1708-1710)Ccc>Tcc		calcium/calmodulin-dependent protein kinase kinase 2, beta							12.0	16.0	15.0					12																	121678561		2149	4223	6372	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121678561G>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1708C>T	12.37:g.121678561G>A	ENSP00000312741:p.Pro570Ser					CAMKK2_ENST00000412367.2_3'UTR|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P527S|CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000538733.1_3'UTR|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P570S|CAMKK2_ENST00000404169.3_Missense_Mutation_p.P570S	p.P570S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			17	2536	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		570					A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.1708C>T	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	6.967	0.548302	0.13312	.	.	ENSG00000110931	ENST00000347034;ENST00000324774;ENST00000404169	T;T;T	0.72282	-0.64;-0.61;-0.61	4.86	0.439	0.16567	.	.	.	.	.	T	0.62417	0.2426	L	0.36672	1.1	0.20403	N	0.999907	B;B	0.21606	0.058;0.02	B;B	0.22601	0.04;0.018	T	0.51419	-0.8708	9	0.34782	T	0.22	-5.7433	17.0167	0.86421	0.0:0.4746:0.5254:0.0	.	527;570	Q96RR4-4;Q96RR4	.;KKCC2_HUMAN	S	527;570;570	ENSP00000321230:P527S;ENSP00000312741:P570S;ENSP00000384600:P570S	ENSP00000312741:P570S	P	-	1	0	CAMKK2	120162944	0.004000	0.15560	0.018000	0.16275	0.004000	0.04260	0.344000	0.19962	0.186000	0.20125	-0.217000	0.12591	CCC		0.711	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		8	41	0	0	0	0.335167	0	8	41				
SCO2	9997	broad.mit.edu	37	22	50962769	50962769	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962769C>T	ENST00000543927.1	-	2	278	c.72G>A	c.(70-72)ggG>ggA	p.G24G	SCO2_ENST00000252785.3_Silent_p.G24G|SCO2_ENST00000535425.1_Silent_p.G24G|SCO2_ENST00000395693.3_Silent_p.G24G|CTA-384D8.36_ENST00000608319.1_RNA	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	24					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCCAGGGTCCCAGGGAGGA	0.652																																						ENST00000543927.1																			0				endometrium(1)|lung(1)	2						c.(70-72)ggG>ggA		SCO2 cytochrome c oxidase assembly protein							19.0	22.0	21.0					22																	50962769		2191	4267	6458	SO:0001819	synonymous_variant	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962769C>T	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.72G>A	22.37:g.50962769C>T						SCO2_ENST00000395693.3_Silent_p.G24G|SCO2_ENST00000535425.1_Silent_p.G24G|SCO2_ENST00000252785.3_Silent_p.G24G	p.G24G	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	278	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	24					Q3T1B5|Q9UK87	Silent	SNP	ENST00000543927.1	37	c.72G>A	CCDS14095.1																																																																																				0.652	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		9	63	0	0	0	0.520397	0	9	63				
ZC3H18	124245	broad.mit.edu	37	16	88691022	88691022	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:88691022G>A	ENST00000301011.5	+	12	2111	c.1911G>A	c.(1909-1911)gtG>gtA	p.V637V	ZC3H18_ENST00000452588.2_Silent_p.V661V	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	637	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGAAGTCAGTGAAGAAGCCGG	0.667																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1909-1911)gtG>gtA		zinc finger CCCH-type containing 18							38.0	55.0	49.0					16																	88691022		2198	4298	6496	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88691022G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1911G>A	16.37:g.88691022G>A						ZC3H18_ENST00000452588.2_Silent_p.V661V	p.V637V	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	12	2111	+			637			Ser-rich.		Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1911G>A	CCDS10967.1																																																																																				0.667	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		13	37	0	0	0	0.435327	0	13	37				
CSRNP1	64651	broad.mit.edu	37	3	39186502	39186502	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:39186502T>A	ENST00000273153.5	-	3	628	c.451A>T	c.(451-453)Atg>Ttg	p.M151L	CSRNP1_ENST00000514182.1_Missense_Mutation_p.M151L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	151					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACTGCAGCATCTCCAACTTC	0.617																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(451-453)Atg>Ttg		cysteine-serine-rich nuclear protein 1							75.0	59.0	64.0					3																	39186502		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39186502T>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.451A>T	3.37:g.39186502T>A	ENSP00000273153:p.Met151Leu					CSRNP1_ENST00000514182.1_Missense_Mutation_p.M151L	p.M151L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			3	628	-			151					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.451A>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099963	0.37048	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15139	2.45;2.45	5.14	0.574	0.17368	.	0.610508	0.17012	N	0.190478	T	0.10035	0.0246	N	0.19112	0.55	0.21020	N	0.99981	B	0.02656	0.0	B	0.04013	0.001	T	0.25082	-1.0142	10	0.42905	T	0.14	-2.3704	8.7315	0.34503	0.0:0.7378:0.1502:0.1121	.	151	Q96S65	CSRN1_HUMAN	L	151	ENSP00000273153:M151L;ENSP00000422532:M151L	ENSP00000273153:M151L	M	-	1	0	CSRNP1	39161506	0.000000	0.05858	0.103000	0.21229	0.986000	0.74619	0.276000	0.18716	-0.114000	0.11936	0.459000	0.35465	ATG		0.617	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		27	39	0	0	0	0.740014	0	27	39				
BAZ2B	29994	broad.mit.edu	37	2	160239306	160239306	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:160239306T>A	ENST00000392783.2	-	25	4264	c.3769A>T	c.(3769-3771)Atc>Ttc	p.I1257F	BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1223F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1157F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1221F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCATGAATGATTCTGAGCCTT	0.398																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3769-3771)Atc>Ttc		bromodomain adjacent to zinc finger domain, 2B							92.0	88.0	89.0					2																	160239306		1921	4125	6046	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160239306T>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3769A>T	2.37:g.160239306T>A	ENSP00000376534:p.Ile1257Phe					BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1221F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1223F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1157F	p.I1257F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			25	4264	-			1257					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3769A>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158698	0.78226	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.59364	0.35;0.34;0.35;0.27	5.81	5.81	0.92471	.	0.409504	0.17216	U	0.182524	T	0.47948	0.1473	N	0.22421	0.69	0.43503	D	0.99575	P;P	0.49559	0.815;0.925	B;P	0.44422	0.413;0.449	T	0.38222	-0.9671	10	0.19590	T	0.45	-7.8365	16.1966	0.82029	0.0:0.0:0.0:1.0	.	1221;1257	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	F	1221;1257;1223;1157	ENSP00000376533:I1221F;ENSP00000376534:I1257F;ENSP00000348087:I1223F;ENSP00000339670:I1157F	ENSP00000339670:I1157F	I	-	1	0	BAZ2B	159947552	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.597000	0.74118	2.217000	0.71921	0.477000	0.44152	ATC		0.398	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			29	85	0	0	0	0.750413	0	29	85				
VWA3A	146177	broad.mit.edu	37	16	22144336	22144336	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:22144336C>T	ENST00000389398.5	+	20	2084	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	663	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCCCGCTATGCCAGTCACACT	0.607																																						ENST00000389398.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(1987-1989)gCc>gTc		von Willebrand factor A domain containing 3A							42.0	46.0	45.0					16																	22144336		2084	4183	6267	SO:0001583	missense	146177					extracellular region		g.chr16:22144336C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1988C>T	16.37:g.22144336C>T	ENSP00000374049:p.Ala663Val					VWA3A_ENST00000389397.4_5'UTR	p.A663V	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	20	2084	+			663			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1988C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767609	0.69878	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.32272	1.46	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	T	0.50667	0.1629	M	0.64997	1.995	0.80722	D	1	D;P	0.71674	0.998;0.952	D;P	0.66979	0.948;0.69	T	0.49504	-0.8933	10	0.59425	D	0.04	.	13.6555	0.62336	0.0:0.8449:0.1551:0.0	.	663;287	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	V	663;286	ENSP00000374049:A663V	ENSP00000299840:A286V	A	+	2	0	VWA3A	22051837	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	4.914000	0.63348	2.574000	0.86865	0.650000	0.86243	GCC		0.607	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			3	33	0	0	0	0.115264	0	3	33				
TMC4	147798	broad.mit.edu	37	19	54664094	54664094	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:54664094G>C	ENST00000376591.4	-	15	2219	c.2088C>G	c.(2086-2088)gtC>gtG	p.V696V	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000416963.1_Silent_p.V278V|TMC4_ENST00000301187.4_Silent_p.V690V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	696					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGCCAGGAAGACTTTATTCT	0.632																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(2086-2088)gtC>gtG		transmembrane channel-like 4							77.0	86.0	83.0					19																	54664094		2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54664094G>C	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.2088C>G	19.37:g.54664094G>C						TMC4_ENST00000416963.1_Silent_p.V278V|TMC4_ENST00000301187.4_Silent_p.V690V	p.V696V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			15	2219	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		696					Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.2088C>G	CCDS46174.1																																																																																				0.632	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			42	176	0	0	0	0.827153	0	42	176				
HILPDA	29923	broad.mit.edu	37	7	128097493	128097493	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:128097493C>G	ENST00000257696.4	+	2	372	c.171C>G	c.(169-171)gaC>gaG	p.D57E	RP11-212P7.3_ENST00000462662.1_RNA|RP11-155G14.6_ENST00000493710.1_RNA|HILPDA_ENST00000481454.1_Intron|HILPDA_ENST00000435296.2_Missense_Mutation_p.D57E	NM_001098786.1|NM_013332.3	NP_001092256.1|NP_037464.1	Q9Y5L2	HLPDA_HUMAN	hypoxia inducible lipid droplet-associated	57					autocrine signaling (GO:0035425)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of lipid storage (GO:0010884)|response to stress (GO:0006950)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|secretory granule (GO:0030141)	receptor binding (GO:0005102)										GCCTTCCAGACCATCCATCCA	0.542																																						ENST00000257696.4																			0											c.(169-171)gaC>gaG		hypoxia inducible lipid droplet-associated							123.0	109.0	114.0					7																	128097493		2203	4300	6503	SO:0001583	missense	29923				autocrine signaling|positive regulation of cell proliferation|response to stress	cell surface|extracellular space|integral to membrane|stored secretory granule	receptor binding	g.chr7:128097493C>G	AF144755	CCDS5802.1	7q32.1	2011-11-02	2011-11-02	2011-11-02	ENSG00000135245	ENSG00000135245			28859	protein-coding gene	gene with protein product	"""hypoxia inducible gene 2"""		"""chromosome 7 open reading frame 68"""	C7orf68		10690527, 15930302	Standard	NM_001098786		Approved	FLJ21076, HIG-2, HIG2	uc010lli.3	Q9Y5L2	OTTHUMG00000157712	ENST00000257696.4:c.171C>G	7.37:g.128097493C>G	ENSP00000257696:p.Asp57Glu					RP11-155G14.5_ENST00000493710.1_RNA|HILPDA_ENST00000435296.2_Missense_Mutation_p.D57E|HILPDA_ENST00000481454.1_Intron	p.D57E	NM_001098786.1|NM_013332.3	NP_001092256.1|NP_037464.1	Q9Y5L2	HIG2_HUMAN			2	372	+			57					A4D0Z5|Q52LY5|Q53HJ7	Missense_Mutation	SNP	ENST00000257696.4	37	c.171C>G	CCDS5802.1	.	.	.	.	.	.	.	.	.	.	c	12.21	1.868716	0.32977	.	.	ENSG00000135245	ENST00000435296;ENST00000257696	.	.	.	4.57	1.54	0.23209	.	0.173592	0.27673	N	0.018334	T	0.31358	0.0794	.	.	.	0.80722	D	1	B	0.19935	0.04	B	0.17098	0.017	T	0.04593	-1.0940	7	.	.	.	17.9545	4.8199	0.13385	0.3814:0.5166:0.0:0.102	.	57	Q9Y5L2	HIG2_HUMAN	E	57	.	.	D	+	3	2	C7orf68	127884729	0.970000	0.33590	0.998000	0.56505	0.262000	0.26303	-0.089000	0.11180	0.624000	0.30286	0.655000	0.94253	GAC		0.542	HILPDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349450.1	NM_013332		22	78	0	0	0	0.639603	0	22	78				
GIPC2	54810	broad.mit.edu	37	1	78591604	78591604	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:78591604G>A	ENST00000370759.3	+	5	947	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	252						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						AAAGATTGATGATGTTCTTGA	0.294																																						ENST00000370759.3																			0				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						c.(754-756)Gat>Aat		GIPC PDZ domain containing family, member 2							81.0	85.0	83.0					1																	78591604		2203	4300	6503	SO:0001583	missense	54810					cytoplasm		g.chr1:78591604G>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.754G>A	1.37:g.78591604G>A	ENSP00000359795:p.Asp252Asn						p.D252N	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN			5	947	+			252					Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	c.754G>A	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083370	0.55861	.	.	ENSG00000137960	ENST00000370759	D	0.82167	-1.58	5.19	2.11	0.27256	.	0.303068	0.38605	N	0.001626	T	0.68201	0.2975	M	0.69523	2.12	0.49389	D	0.999789	B	0.23735	0.09	B	0.21360	0.034	T	0.67142	-0.5745	10	0.44086	T	0.13	-16.7002	8.114	0.30930	0.1449:0.0:0.7267:0.1284	.	252	Q8TF65	GIPC2_HUMAN	N	252	ENSP00000359795:D252N	ENSP00000359795:D252N	D	+	1	0	GIPC2	78364192	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	5.117000	0.64667	0.692000	0.31613	0.655000	0.94253	GAT		0.294	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		14	50	0	0	0	0.500413	0	14	50				
TP63	8626	broad.mit.edu	37	3	189526081	189526081	+	Silent	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:189526081G>T	ENST00000264731.3	+	4	434	c.345G>T	c.(343-345)ggG>ggT	p.G115G	TP63_ENST00000392463.2_Silent_p.G21G|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Silent_p.G21G|TP63_ENST00000418709.2_Silent_p.G115G|TP63_ENST00000392460.3_Silent_p.G115G|TP63_ENST00000449992.1_Intron|TP63_ENST00000354600.5_Silent_p.G21G|TP63_ENST00000440651.2_Silent_p.G115G|TP63_ENST00000320472.5_Silent_p.G115G|TP63_ENST00000437221.1_Silent_p.G21G|TP63_ENST00000392461.3_Silent_p.G21G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	115					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGAACCTGGGGCTCCTGAACA	0.567										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(343-345)ggG>ggT		tumor protein p63							121.0	108.0	112.0					3																	189526081		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526081G>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.345G>T	3.37:g.189526081G>T		HNSCC(45;0.13)				TP63_ENST00000456148.1_Silent_p.G21G|TP63_ENST00000354600.5_Silent_p.G21G|TP63_ENST00000320472.5_Silent_p.G115G|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000440651.2_Silent_p.G115G|TP63_ENST00000437221.1_Silent_p.G21G|TP63_ENST00000392460.3_Silent_p.G115G|TP63_ENST00000392463.2_Silent_p.G21G|TP63_ENST00000392461.3_Silent_p.G21G|TP63_ENST00000418709.2_Silent_p.G115G	p.G115G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	434	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		115					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.345G>T	CCDS3293.1																																																																																				0.567	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		143	152	1	0	6.50729e-104	0.870114	7.91973e-104	143	152				
KIF7	374654	broad.mit.edu	37	15	90176168	90176168	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:90176168C>T	ENST00000394412.3	-	14	2854	c.2778G>A	c.(2776-2778)cgG>cgA	p.R926R		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	926					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCAGCGCCCGCCGCTGCTGTA	0.622																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(2776-2778)cgG>cgA		kinesin family member 7							25.0	25.0	25.0					15																	90176168		2200	4298	6498	SO:0001819	synonymous_variant	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90176168C>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2778G>A	15.37:g.90176168C>T							p.R926R	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		14	2854	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		926					Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	ENST00000394412.3	37	c.2778G>A	CCDS32325.2																																																																																				0.622	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		17	19	0	0	0	0.520397	0	17	19				
COL6A3	1293	broad.mit.edu	37	2	238253355	238253355	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:238253355C>G	ENST00000295550.4	-	36	7758	c.7306G>C	c.(7306-7308)Gag>Cag	p.E2436Q	COL6A3_ENST00000347401.3_Missense_Mutation_p.E2235Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.E2230Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2236Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2230Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1829Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2436	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGTTGCTCTCAGCAATGGTC	0.557																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7306-7308)Gag>Cag		collagen, type VI, alpha 3							69.0	74.0	72.0					2																	238253355		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253355C>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7306G>C	2.37:g.238253355C>G	ENSP00000295550:p.Glu2436Gln					COL6A3_ENST00000353578.4_Missense_Mutation_p.E2230Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2235Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2236Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2230Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1829Q	p.E2436Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7758	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2436			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7306G>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372586	0.42003	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.22	5.22	0.72569	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000036	T	0.37839	0.1018	M	0.66378	2.025	0.48975	D	0.999732	D;D;D;P	0.89917	1.0;1.0;1.0;0.909	D;D;D;P	0.75484	0.986;0.977;0.975;0.842	T	0.07195	-1.0785	10	0.51188	T	0.08	.	18.7966	0.91997	0.0:1.0:0.0:0.0	.	1829;1829;2230;2436	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	Q	2436;2235;2230;1829;2230;2236	ENSP00000295550:E2436Q;ENSP00000315609:E2235Q;ENSP00000315873:E2230Q;ENSP00000418285:E1829Q;ENSP00000386844:E2230Q;ENSP00000295546:E2236Q	ENSP00000295550:E2436Q	E	-	1	0	COL6A3	237918094	1.000000	0.71417	0.947000	0.38551	0.854000	0.48673	5.830000	0.69324	2.427000	0.82271	0.655000	0.94253	GAG		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		41	160	0	0	0	0.853193	0	41	160				
RAB9B	51209	broad.mit.edu	37	X	103080242	103080242	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:103080242T>C	ENST00000243298.2	-	3	757	c.473A>G	c.(472-474)gAt>gGt	p.D158G		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	158					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CACATTAGTATCATCTTTGGC	0.473																																						ENST00000243298.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						c.(472-474)gAt>gGt		RAB9B, member RAS oncogene family							175.0	163.0	167.0					X																	103080242		2203	4300	6503	SO:0001583	missense	51209				Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chrX:103080242T>C	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.473A>G	X.37:g.103080242T>C	ENSP00000243298:p.Asp158Gly						p.D158G	NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN			3	757	-			158					B2R8M0|Q52LX2	Missense_Mutation	SNP	ENST00000243298.2	37	c.473A>G	CCDS14515.1	.	.	.	.	.	.	.	.	.	.	T	8.395	0.840557	0.16891	.	.	ENSG00000123570	ENST00000243298	T	0.63580	-0.05	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	N	0.00468	-1.46	0.80722	D	1	B	0.06786	0.001	B	0.14578	0.011	T	0.27054	-1.0085	10	0.14656	T	0.56	-19.2356	12.4598	0.55725	0.0:0.0:0.0:1.0	.	158	Q9NP90	RAB9B_HUMAN	G	158	ENSP00000243298:D158G	ENSP00000243298:D158G	D	-	2	0	RAB9B	102966898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.359000	0.59449	1.849000	0.53698	0.486000	0.48141	GAT		0.473	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057746.1			129	95	0	0	0	0.870114	0	129	95				
OR2V2	285659	broad.mit.edu	37	5	180582306	180582306	+	Missense_Mutation	SNP	G	G	T	rs150156274	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr5:180582306G>T	ENST00000328275.1	+	1	364	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D122N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGGCTTATGACCGCTATGT	0.522																																						ENST00000328275.1																			1	Substitution - Missense(1)	p.D122N(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(364-366)Gac>Tac		olfactory receptor, family 2, subfamily V, member 2							90.0	88.0	88.0					5																	180582306		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582306G>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.364G>T	5.37:g.180582306G>T	ENSP00000332185:p.Asp122Tyr						p.D122Y	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	364	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	122					Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.364G>T	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	15.35	2.806947	0.50421	.	.	ENSG00000182613	ENST00000328275	T	0.03860	3.78	3.27	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	N	0.001571	T	0.35566	0.0936	H	0.99697	4.71	0.43084	D	0.994745	D	0.89917	1.0	D	0.91635	0.999	T	0.47911	-0.9080	10	0.87932	D	0	.	8.1906	0.31366	0.125:0.0:0.875:0.0	.	122	Q96R30	OR2V2_HUMAN	Y	122	ENSP00000332185:D122Y	ENSP00000332185:D122Y	D	+	1	0	OR2V2	180514912	1.000000	0.71417	0.991000	0.47740	0.761000	0.43186	5.893000	0.69798	0.703000	0.31848	0.305000	0.20034	GAC		0.522	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			59	72	1	0	1.77205e-36	0.870114	2.0762e-36	59	72				
ZMYND8	23613	broad.mit.edu	37	20	45867756	45867756	+	Missense_Mutation	SNP	G	G	A	rs369116353		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:45867756G>A	ENST00000311275.7	-	15	2604	c.2351C>T	c.(2350-2352)aCg>aTg	p.T784M	ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T732M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T779M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T779M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T804M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T804M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T721M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T811M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T804M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T784M	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	784					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GACGGTGACCGTGGAGGACGT	0.692																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2350-2352)aCg>aTg		zinc finger, MYND-type containing 8		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	48.0	62.0	57.0		2411,2411,2336	4.6	0.3	20		57	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	ZMYND8	NM_012408.3,NM_183047.1,NM_183048.1	81,81,81	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	804/1161,804/1189,779/1136	45867756	1,12997	2203	4296	6499	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45867756G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2351C>T	20.37:g.45867756G>A	ENSP00000312237:p.Thr784Met					ZMYND8_ENST00000461685.1_Missense_Mutation_p.T804M|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T804M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T804M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T721M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T732M|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T811M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T779M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T784M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T779M	p.T784M			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		15	2604	-			784					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2351C>T		.	.	.	.	.	.	.	.	.	.	G	8.158	0.788963	0.16258	0.0	1.16E-4	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D	0.90563	-1.84;-1.76;-1.73;-1.88;-1.77;-1.77;-2.69;-1.73;-1.77;-1.92	5.53	4.58	0.56647	.	0.537613	0.20535	N	0.090425	D	0.93058	0.7790	M	0.64997	1.995	0.21719	N	0.999576	D;B;D;D;D;P;P;D;P;P;B;B;P;B;D;P	0.76494	0.987;0.015;0.958;0.999;0.991;0.916;0.783;0.991;0.917;0.917;0.015;0.015;0.884;0.015;0.995;0.625	P;B;P;P;P;P;P;P;P;P;B;B;B;B;P;B	0.59643	0.828;0.016;0.677;0.8;0.776;0.591;0.66;0.861;0.685;0.742;0.016;0.018;0.386;0.007;0.724;0.336	D	0.87035	0.2137	10	0.45353	T	0.12	-19.9088	14.318	0.66465	0.0712:0.0:0.9288:0.0	.	811;779;779;759;778;804;784;779;804;804;784;721;779;732;732;784	F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.	M	779;784;785;805;804;784;811;784;721;804;779;732	ENSP00000354166:T779M;ENSP00000312237:T784M;ENSP00000335537:T804M;ENSP00000379577:T784M;ENSP00000439800:T811M;ENSP00000348246:T784M;ENSP00000396725:T721M;ENSP00000418210:T804M;ENSP00000361093:T779M;ENSP00000443086:T732M	ENSP00000262975:T785M	T	-	2	0	ZMYND8	45301163	0.958000	0.32768	0.292000	0.24919	0.003000	0.03518	6.193000	0.72075	1.333000	0.45449	-0.229000	0.12294	ACG		0.692	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		36	93	0	0	0	0.859065	0	36	93				
ZNF230	7773	broad.mit.edu	37	19	44514424	44514424	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:44514424G>A	ENST00000429154.2	+	5	461	c.233G>A	c.(232-234)gGc>gAc	p.G78D		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	78					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CTTATAGGCGGCAAGACTATT	0.423																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(232-234)gGc>gAc		zinc finger protein 230							54.0	51.0	52.0					19																	44514424		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514424G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.233G>A	19.37:g.44514424G>A	ENSP00000409318:p.Gly78Asp						p.G78D	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	461	+		Prostate(69;0.0352)	78					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.233G>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	8.221	0.802399	0.16397	.	.	ENSG00000159882	ENST00000429154	T	0.04917	3.53	1.98	-0.45	0.12223	.	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.48969	-0.8987	9	0.12766	T	0.61	.	5.1607	0.15060	0.4868:0.0:0.5132:0.0	.	78	Q9UIE0	ZN230_HUMAN	D	78	ENSP00000409318:G78D	ENSP00000409318:G78D	G	+	2	0	ZNF230	49206264	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-3.256000	0.00538	-0.034000	0.13713	0.195000	0.17529	GGC		0.423	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			3	59	0	0	0	0.115264	0	3	59				
RAPGEF2	9693	broad.mit.edu	37	4	160252611	160252611	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:160252611A>G	ENST00000264431.4	+	8	1432	c.1013A>G	c.(1012-1014)aAt>aGt	p.N338S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	338	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTGTGGGTAAATAATCACTTC	0.303																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(1012-1014)aAt>aGt		Rap guanine nucleotide exchange factor (GEF) 2							62.0	58.0	59.0					4																	160252611		1815	4076	5891	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160252611A>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1013A>G	4.37:g.160252611A>G	ENSP00000264431:p.Asn338Ser						p.N338S	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	8	1432	+	all_hematologic(180;0.24)		338			N-terminal Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.1013A>G	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397389	0.83120	.	.	ENSG00000109756	ENST00000264431	T	0.28454	1.61	5.09	5.09	0.68999	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71020	-0.4713	10	0.87932	D	0	.	15.1759	0.72910	1.0:0.0:0.0:0.0	.	338	Q9Y4G8	RPGF2_HUMAN	S	338	ENSP00000264431:N338S	ENSP00000264431:N338S	N	+	2	0	RAPGEF2	160472061	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.257000	0.95545	2.051000	0.60960	0.383000	0.25322	AAT		0.303	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		22	63	0	0	0	0.639603	0	22	63				
PSME1	5720	broad.mit.edu	37	14	24607452	24607452	+	Silent	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:24607452C>G	ENST00000206451.6	+	8	612	c.507C>G	c.(505-507)ggC>ggG	p.G169G	EMC9_ENST00000558200.1_5'Flank|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000382708.3_Silent_p.G169G|PSME1_ENST00000561435.1_Silent_p.G169G|PSME1_ENST00000559123.1_Silent_p.G10G	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	169					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AGCTAGAAGGCTTCCACACTC	0.473																																						ENST00000382708.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(505-507)ggC>ggG		proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)							218.0	230.0	226.0					14																	24607452		2203	4300	6503	SO:0001819	synonymous_variant	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24607452C>G		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.507C>G	14.37:g.24607452C>G						PSME1_ENST00000206451.6_Silent_p.G169G|PSME1_ENST00000559123.1_Silent_p.G10G|PSME1_ENST00000561435.1_Silent_p.G169G	p.G169G	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	8	570	+			169					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Silent	SNP	ENST00000206451.6	37	c.507C>G	CCDS9612.1																																																																																				0.473	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263		134	383	0	0	0	0.870114	0	134	383				
COL7A1	1294	broad.mit.edu	37	3	48626135	48626135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:48626135G>A	ENST00000328333.8	-	19	2634	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.R843*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	843	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGTCACTCGCACTGAGTAG	0.617																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CM060937	COL7A1	M		c.(2527-2529)Cga>Tga		collagen, type VII, alpha 1							72.0	68.0	69.0					3																	48626135		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626135G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2527C>T	3.37:g.48626135G>A	ENSP00000332371:p.Arg843*					COL7A1_ENST00000454817.1_Nonsense_Mutation_p.R843*	p.R843*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	19	2634	-			843			Fibronectin type-III 7.|Nonhelical region (NC1).		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.2527C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	39	7.770237	0.98480	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.38	-0.0652	0.13769	.	0.000000	0.39274	N	0.001407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0504	0.47884	0.0:0.1116:0.2517:0.6367	.	.	.	.	X	843	.	ENSP00000332371:R843X	R	-	1	2	COL7A1	48601139	0.984000	0.35163	0.985000	0.45067	0.883000	0.51084	0.383000	0.20651	-0.235000	0.09767	-1.014000	0.02459	CGA		0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		29	54	0	0	0	0.729181	0	29	54				
CXADR	1525	broad.mit.edu	37	21	18937987	18937987	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr21:18937987A>G	ENST00000284878.7	+	7	1823	c.1075A>G	c.(1075-1077)Agc>Ggc	p.S359G	CXADR_ENST00000400166.1_3'UTR|CXADR_ENST00000400169.1_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.S318G	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	359					actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TCCAGCACAGAGCAAGGATGG	0.458																																						ENST00000284878.7																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11						c.(1075-1077)Agc>Ggc		coxsackie virus and adenovirus receptor							54.0	53.0	53.0					21																	18937987		2203	4298	6501	SO:0001583	missense	1525				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	g.chr21:18937987A>G	Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.1075A>G	21.37:g.18937987A>G	ENSP00000284878:p.Ser359Gly					CXADR_ENST00000400166.1_3'UTR|CXADR_ENST00000400169.1_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.S318G	p.S359G	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN		Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)	7	1823	+			359					B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	c.1075A>G	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461478	0.84317	.	.	ENSG00000154639	ENST00000284878;ENST00000306618	D;D	0.92595	-1.69;-3.07	5.43	5.43	0.79202	.	0.130362	0.64402	D	0.000001	D	0.89283	0.6671	M	0.67700	2.07	0.40062	D	0.975906	P	0.39665	0.682	B	0.27380	0.079	D	0.90825	0.4712	10	0.72032	D	0.01	.	14.9905	0.71384	1.0:0.0:0.0:0.0	.	359	P78310	CXAR_HUMAN	G	359;318	ENSP00000284878:S359G;ENSP00000303395:S318G	ENSP00000284878:S359G	S	+	1	0	CXADR	17859858	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.669000	0.91163	2.191000	0.70037	0.533000	0.62120	AGC		0.458	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1			28	71	0	0	0	0.740014	0	28	71				
SREBF1	6720	broad.mit.edu	37	17	17716991	17716991	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:17716991C>T	ENST00000261646.5	-	17	3178	c.2994G>A	c.(2992-2994)caG>caA	p.Q998Q	SREBF1_ENST00000395757.1_Silent_p.Q744Q|SREBF1_ENST00000338854.5_Silent_p.Q998Q|SREBF1_ENST00000355815.4_Silent_p.Q1028Q|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	998					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCTGGTGCCCTGGGCTGCTG	0.716																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(3082-3084)caG>caA		sterol regulatory element binding transcription factor 1							3.0	4.0	4.0					17																	17716991		1923	3914	5837	SO:0001819	synonymous_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17716991C>T	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2994G>A	17.37:g.17716991C>T						SREBF1_ENST00000338854.5_Silent_p.Q998Q|SREBF1_ENST00000261646.5_Silent_p.Q998Q|SREBF1_ENST00000395757.1_Silent_p.Q744Q	p.Q1028Q	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			18	3253	-			998					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	ENST00000261646.5	37	c.3084G>A	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.374472	0.01214	.	.	ENSG00000072310	ENST00000395751	.	.	.	4.13	2.03	0.26663	.	.	.	.	.	T	0.35364	0.0929	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	T	0.22626	-1.0211	4	.	.	.	-2.4923	9.0093	0.36131	0.0:0.7602:0.154:0.0858	.	.	.	.	R	1006	.	.	G	-	1	0	SREBF1	17657716	0.155000	0.22806	0.013000	0.15412	0.017000	0.09413	0.574000	0.23714	0.474000	0.27392	0.561000	0.74099	GGG		0.716	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		2	2	0	0	0	0.115264	0	2	2				
DDB2	1643	broad.mit.edu	37	11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C|DDB2_ENST00000378601.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A). {ECO:0000269|PubMed:8798680}.		DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000256996.4			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	"""Mis, N"""	damage-specific DNA binding protein 2			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						c.(817-819)Cgc>Tgc	Direct reversal of damage;Nucleotide excision repair (NER)	damage-specific DNA binding protein 2, 48kDa							47.0	46.0	47.0					11																	47256422		2201	4298	6499	SO:0001583	missense	1643	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47256422C>T		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.817C>T	11.37:g.47256422C>T	ENSP00000256996:p.Arg273Cys					DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C|DDB2_ENST00000378600.3_Intron	p.R273C	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN			6	1012	+			273		R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).			B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.817C>T	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368141	0.82463	.	.	ENSG00000134574	ENST00000256996;ENST00000378603	T;T	0.70164	-0.46;2.61	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.979	D	0.90587	0.4534	10	0.87932	D	0	-30.6072	14.5015	0.67724	0.182:0.8179:0.0:0.0	.	209;273	Q92466-4;Q92466	.;DDB2_HUMAN	C	273;209	ENSP00000256996:R273C;ENSP00000367866:R209C	ENSP00000256996:R273C	R	+	1	0	DDB2	47212998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.341000	0.52151	2.676000	0.91093	0.563000	0.77884	CGC		0.537	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107		14	35	0	0	0	0.457914	0	14	35				
IGLV3-21	28796	broad.mit.edu	37	22	23055518	23055518	+	RNA	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:23055518G>T	ENST00000390308.2	+	0	432									immunoglobulin lambda variable 3-21																		GCCAGGCCAGGCCCCTGTGCT	0.592																																						ENST00000390308.2																			0																				47.0	48.0	48.0					22																	23055518		1865	4107	5972			28796							g.chr22:23055518G>T	X71966		22q11.2	2012-02-08			ENSG00000211662	ENSG00000211662		"""Immunoglobulins / IGL locus"""	5905	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151213		22.37:g.23055518G>T														0	432	+									RNA	SNP	ENST00000390308.2	37																																																																																						0.592	IGLV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321817.1	NG_000002		12	44	1	0	1.99824e-07	0.520397	2.11975e-07	12	44				
MAGEB3	4114	broad.mit.edu	37	X	30254048	30254048	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:30254048C>T	ENST00000361644.2	+	5	744	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	3										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CATCATGCCTCGGGGTCAGAA	0.562																																						ENST00000361644.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(7-9)Cgg>Tgg		melanoma antigen family B, 3							53.0	44.0	47.0					X																	30254048		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254048C>T	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.7C>T	X.37:g.30254048C>T	ENSP00000355198:p.Arg3Trp					MAGEB3_ENST00000378986.1_Missense_Mutation_p.R3W	p.R3W	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN			5	744	+			3					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.7C>T	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754440	0.49362	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.08193	3.12;3.12	3.98	0.00319	0.14053	Melanoma associated antigen, MAGE, N-terminal (1);	1.722530	0.04794	U	0.432170	T	0.26231	0.0640	M	0.80616	2.505	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09773	-1.0659	10	0.66056	D	0.02	.	1.7557	0.02981	0.3665:0.3466:0.1762:0.1108	.	3	O15480	MAGB3_HUMAN	W	3	ENSP00000368271:R3W;ENSP00000355198:R3W	ENSP00000355198:R3W	R	+	1	2	MAGEB3	30163969	0.011000	0.17503	0.055000	0.19348	0.099000	0.18886	-0.239000	0.08965	-0.133000	0.11537	-0.364000	0.07487	CGG		0.562	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		24	23	0	0	0	0.654019	0	24	23				
OGDH	4967	broad.mit.edu	37	7	44715628	44715628	+	Silent	SNP	C	C	A	rs374216035		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:44715628C>A	ENST00000222673.5	+	9	1128	c.1086C>A	c.(1084-1086)acC>acA	p.T362T	OGDH_ENST00000449767.1_Silent_p.T358T|OGDH_ENST00000443864.2_Silent_p.T362T|OGDH_ENST00000439616.2_Silent_p.T212T|OGDH_ENST00000444676.1_Silent_p.T377T|OGDH_ENST00000543843.1_Silent_p.T313T|OGDH_ENST00000447398.1_Silent_p.T373T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	362					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ATCGTGTCACCGACAGGAACA	0.552																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(1084-1086)acC>acA		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						132.0	114.0	120.0					7																	44715628		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44715628C>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1086C>A	7.37:g.44715628C>A						OGDH_ENST00000439616.2_Silent_p.T212T|OGDH_ENST00000443864.2_Silent_p.T362T|OGDH_ENST00000543843.1_Silent_p.T313T|OGDH_ENST00000444676.1_Silent_p.T377T|OGDH_ENST00000447398.1_Silent_p.T373T|OGDH_ENST00000449767.1_Silent_p.T358T	p.T362T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			9	1128	+			362					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.1086C>A	CCDS34627.1																																																																																				0.552	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			165	135	1	0	2.19381e-74	0.870114	2.64945e-74	165	135				
CFAP54	144535	broad.mit.edu	37	12	97158907	97158907	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:97158907G>C	ENST00000524981.4	+	60	8215	c.8192G>C	c.(8191-8193)aGa>aCa	p.R2731T				Q96N23	CL055_HUMAN		0																	AAGAATACTAGAATGCATAAA	0.323																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(3544-3546)aGa>aCa									88.0	86.0	87.0					12																	97158907		2203	4298	6501	SO:0001583	missense	144535							g.chr12:97158907G>C																												ENST00000524981.4:c.8192G>C	12.37:g.97158907G>C	ENSP00000431759:p.Arg2731Thr						p.R1182T			Q6ZTY8	CL063_HUMAN			27	3545	+			1156						Missense_Mutation	SNP	ENST00000524981.4	37	c.3545G>C		.	.	.	.	.	.	.	.	.	.	G	1.892	-0.455117	0.04540	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.66	-2.33	0.06724	.	0.284070	0.30210	N	0.010153	T	0.18173	0.0436	L	0.28274	0.84	0.09310	N	1	B	0.32160	0.358	B	0.35971	0.215	T	0.16689	-1.0394	9	0.19147	T	0.46	-2.8477	3.6463	0.08186	0.469:0.0:0.2423:0.2887	.	1156	Q6ZTY8	CL063_HUMAN	T	2731;1156	.	ENSP00000345466:R1156T	R	+	2	0	C12orf63	95683038	0.013000	0.17824	0.000000	0.03702	0.433000	0.31745	0.869000	0.27996	-0.007000	0.14345	0.305000	0.20034	AGA		0.323	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			37	113	0	0	0	0.834066	0	37	113				
PRSS1	5644	broad.mit.edu	37	7	142460802	142460802	+	Silent	SNP	G	G	A	rs375871958		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:142460802G>A	ENST00000311737.7	+	5	681	c.675G>A	c.(673-675)aaG>aaA	p.K225K	PRSS1_ENST00000486171.1_Silent_p.K239K	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	225	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	AGAAGAACAAGCCTGGAGTCT	0.512																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(715-717)aaG>aaA		protease, serine, 1 (trypsin 1)		G		0,4406		0,0,2203	86.0	87.0	86.0		675	-0.0	0.9	7		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRSS1	NM_002769.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		225/248	142460802	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460802G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.675G>A	7.37:g.142460802G>A						PRSS1_ENST00000311737.7_Silent_p.K225K	p.K239K			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		6	734	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	225			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.717G>A	CCDS5872.1																																																																																				0.512	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			9	202	0	0	0	0.307466	0	9	202				
ADAM15	8751	broad.mit.edu	37	1	155025140	155025140	+	Intron	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:155025140C>G	ENST00000356955.2	+	2	180				ADAM15_ENST00000447332.3_Intron|ADAM15_ENST00000472434.1_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000359280.4_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.P35A|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000449910.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15						angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGTCCTGGGACCTGCAGGTGG	0.617											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000531455.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(103-105)Cct>Gct		ADAM metallopeptidase domain 15							29.0	34.0	32.0					1																	155025140		2200	4295	6495	SO:0001627	intron_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155025140C>G	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.80-7C>G	1.37:g.155025140C>G			OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000359280.4_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000472434.1_Intron|ADAM15_ENST00000449910.2_Intron|ADAM15_ENST00000447332.3_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000356955.2_Intron	p.P35A			Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		2	139	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		26					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.103C>G	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868428	0.32977	.	.	ENSG00000143537	ENST00000531455	T	0.00664	5.92	4.06	-0.598	0.11649	.	.	.	.	.	T	0.00144	0.0004	.	.	.	0.20489	N	0.999897	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.24225	-1.0166	8	0.09338	T	0.73	.	1.9905	0.03445	0.3522:0.3699:0.1723:0.1056	.	35;42	E9PN65;B7Z390	.;.	A	35	ENSP00000432927:P35A	ENSP00000432927:P35A	P	+	1	0	ADAM15	153291764	0.000000	0.05858	0.727000	0.30756	0.903000	0.53119	0.074000	0.14662	0.100000	0.17581	0.650000	0.86243	CCT		0.617	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		6	12	0	0	0	0.278610	0	6	12				
TTN	7273	broad.mit.edu	37	2	179476145	179476145	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:179476145G>A	ENST00000591111.1	-	219	46112	c.45888C>T	c.(45886-45888)agC>agT	p.S15296S	TTN_ENST00000342992.6_Silent_p.S14369S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.S16937S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.S7872S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.S7997S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S8064S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15296	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATGGCTCGCTGACACCAA	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50809-50811)agC>agT		titin							85.0	83.0	84.0					2																	179476145		2027	4193	6220	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476145G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45888C>T	2.37:g.179476145G>A						TTN_ENST00000460472.2_Silent_p.S7872S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Silent_p.S15296S|TTN_ENST00000342175.6_Silent_p.S8064S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.S7997S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S14369S|TTN-AS1_ENST00000592630.1_RNA	p.S16937S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	51035	-			15296					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.50811C>T																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	89	0	0	0	0.667858	0	24	89				
CLEC11A	6320	broad.mit.edu	37	19	51227677	51227677	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:51227677G>C	ENST00000250340.4	+	3	542	c.345G>C	c.(343-345)ctG>ctC	p.L115L	CLEC11A_ENST00000599973.1_Silent_p.L115L	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	115					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGGCCGCCTGGCCGGCCTGG	0.701											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000250340.4																			0				kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(343-345)ctG>ctC		C-type lectin domain family 11, member A							8.0	10.0	9.0					19																	51227677		2028	4019	6047	SO:0001819	synonymous_variant	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51227677G>C	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.345G>C	19.37:g.51227677G>C			OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	CLEC11A_ENST00000599973.1_Silent_p.L115L	p.L115L	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	3	542	+		all_neural(266;0.057)	115					B2RAD4	Silent	SNP	ENST00000250340.4	37	c.345G>C	CCDS12800.1																																																																																				0.701	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		11	24	0	0	0	0.387290	0	11	24				
SYT5	6861	broad.mit.edu	37	19	55686278	55686278	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:55686278C>T	ENST00000354308.3	-	7	1167	c.798G>A	c.(796-798)ctG>ctA	p.L266L	SYT5_ENST00000590851.1_Silent_p.L262L|SYT5_ENST00000537500.1_Silent_p.L266L|SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	266	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCATCTTCTTCAGGTTTTTAG	0.577																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(796-798)ctG>ctA		synaptotagmin V							128.0	122.0	124.0					19																	55686278		2203	4300	6503	SO:0001819	synonymous_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686278C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.798G>A	19.37:g.55686278C>T						CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Silent_p.L266L|SYT5_ENST00000590851.1_Silent_p.L262L	p.L266L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1167	-			266			C2 2.		B3KWJ8|B7Z300|Q86X72	Silent	SNP	ENST00000354308.3	37	c.798G>A	CCDS12919.1																																																																																				0.577	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		56	93	0	0	0	0.870114	0	56	93				
PDE5A	8654	broad.mit.edu	37	4	120528105	120528105	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:120528105G>T	ENST00000354960.3	-	2	819	c.500C>A	c.(499-501)gCc>gAc	p.A167D	PDE5A_ENST00000264805.5_Missense_Mutation_p.A125D|PDE5A_ENST00000394439.1_Missense_Mutation_p.A115D	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	167	GAF 1.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GTGACATAAGGCTGTGACATC	0.428																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(499-501)gCc>gAc		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						130.0	125.0	127.0					4																	120528105		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120528105G>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.500C>A	4.37:g.120528105G>T	ENSP00000347046:p.Ala167Asp					PDE5A_ENST00000264805.5_Missense_Mutation_p.A125D|PDE5A_ENST00000394439.1_Missense_Mutation_p.A115D	p.A167D	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			2	819	-			167			GAF 1.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.500C>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285576	0.80803	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.64	4.79	0.61399	GAF (2);	0.190150	0.45126	D	0.000388	T	0.53834	0.1821	L	0.31420	0.93	0.80722	D	1	B;P	0.41848	0.445;0.763	B;B	0.38755	0.281;0.116	T	0.50294	-0.8845	10	0.13853	T	0.58	.	16.5745	0.84633	0.0:0.1304:0.8696:0.0	.	167;125	O76074;O76074-2	PDE5A_HUMAN;.	D	167;115;125;115	ENSP00000347046:A167D;ENSP00000377957:A115D;ENSP00000264805:A125D;ENSP00000416309:A115D	ENSP00000264805:A125D	A	-	2	0	PDE5A	120747553	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	9.815000	0.99349	1.361000	0.45981	0.655000	0.94253	GCC		0.428	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		49	110	1	0	6.61955e-31	0.870114	7.69829e-31	49	110				
ZNF710	374655	broad.mit.edu	37	15	90611606	90611606	+	Missense_Mutation	SNP	G	G	A	rs374622168		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:90611606G>A	ENST00000268154.4	+	2	1488	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	413					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(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CGTCGAGTGCGGCCTGGACTT	0.652																																						ENST00000268154.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(1237-1239)Ggc>Agc		zinc finger protein 710		G	SER/GLY	0,4400		0,0,2200	60.0	58.0	58.0		1237	5.5	1.0	15		58	1,8595	1.2+/-3.3	0,1,4297	no	missense	ZNF710	NM_198526.2	56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	413/665	90611606	1,12995	2200	4298	6498	SO:0001583	missense	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611606G>A	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1237G>A	15.37:g.90611606G>A	ENSP00000268154:p.Gly413Ser						p.G413S	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1488	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		413					A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	c.1237G>A	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252858	0.80135	0.0	1.16E-4	ENSG00000140548	ENST00000268154	T	0.20463	2.07	5.46	5.46	0.80206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.350050	0.24766	N	0.035768	T	0.49321	0.1550	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47394	-0.9121	10	0.87932	D	0	-50.9865	18.0678	0.89396	0.0:0.0:1.0:0.0	.	413	Q8N1W2	ZN710_HUMAN	S	413	ENSP00000268154:G413S	ENSP00000268154:G413S	G	+	1	0	ZNF710	88412610	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.636000	0.98440	2.840000	0.97914	0.655000	0.94253	GGC		0.652	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		17	66	0	0	0	0.654019	0	17	66				
TRAJ57	28698	broad.mit.edu	37	14	22948534	22948534	+	RNA	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr14:22948534G>A	ENST00000390482.1	+	0	63				AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA|TRAJ59_ENST00000390480.2_RNA|TRAJ58_ENST00000390481.1_RNA|TRAJ54_ENST00000390484.1_RNA|TRAJ56_ENST00000390483.1_RNA					T cell receptor alpha joining 57																		ATAGTAAGCTGACATTTGGAA	0.363																																						ENST00000514473.2																			0																				135.0	136.0	136.0					14																	22948534		1841	4096	5937			0							g.chr14:22948534G>A	M94081		14q11.2	2012-02-07			ENSG00000211834	ENSG00000211834		"""T cell receptors / TRA locus"""	12089	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170910		14.37:g.22948534G>A						AE000661.37_ENST00000556777.1_RNA|TRAJ56_ENST00000390483.1_RNA								0	225	-									RNA	SNP	ENST00000390482.1	37																																																																																						0.363	TRAJ57-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410941.1	NG_001332		16	78	0	0	0	0.608945	0	16	78				
ESR1	2099	broad.mit.edu	37	6	152129446	152129446	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:152129446G>A	ENST00000206249.3	+	1	761	c.399G>A	c.(397-399)gaG>gaA	p.E133E	ESR1_ENST00000406599.1_Silent_p.E133E|ESR1_ENST00000440973.1_Silent_p.E133E|ESR1_ENST00000338799.5_Silent_p.E133E|ESR1_ENST00000443427.1_Silent_p.E133E|ESR1_ENST00000456483.2_Silent_p.E133E|ESR1_ENST00000427531.2_5'Flank	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	133	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ACTACCTGGAGAACGAGCCCA	0.736																																						ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(397-399)gaG>gaA		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						6.0	7.0	7.0					6																	152129446		2129	4177	6306	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152129446G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.399G>A	6.37:g.152129446G>A						ESR1_ENST00000206249.3_Silent_p.E133E|ESR1_ENST00000456483.2_Silent_p.E133E|ESR1_ENST00000338799.5_Silent_p.E133E|ESR1_ENST00000443427.1_Silent_p.E133E|ESR1_ENST00000406599.1_Silent_p.E133E	p.E133E	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	3	769	+		Ovarian(120;0.0448)	133			Modulating; mediates interaction with MACROD1.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.399G>A	CCDS5234.1																																																																																				0.736	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			3	6	0	0	0	0.217242	0	3	6				
PLK1	5347	broad.mit.edu	37	16	23700659	23700659	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr16:23700659C>T	ENST00000300093.4	+	8	1482	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	457	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TAGAGCGTGACGGCACTGAGT	0.557																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1369-1371)gaC>gaT		polo-like kinase 1							139.0	110.0	119.0					16																	23700659		2197	4300	6497	SO:0001819	synonymous_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23700659C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1371C>T	16.37:g.23700659C>T							p.D457D	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	1482	+			457			POLO box 1.		Q15153|Q99746	Silent	SNP	ENST00000300093.4	37	c.1371C>T	CCDS10616.1																																																																																				0.557	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		43	81	0	0	0	0.840704	0	43	81				
BRD4	23476	broad.mit.edu	37	19	15350543	15350543	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:15350543G>A	ENST00000263377.2	-	16	3593	c.3372C>T	c.(3370-3372)ccC>ccT	p.P1124P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1124	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGGCTGAAGGGCTCGCTGC	0.692			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3370-3372)ccC>ccT		bromodomain containing 4							30.0	36.0	34.0					19																	15350543		2203	4297	6500	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15350543G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3372C>T	19.37:g.15350543G>A							p.P1124P	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		16	3593	-			1124					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.3372C>T	CCDS12328.1																																																																																				0.692	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		29	31	0	0	0	0.769981	0	29	31				
NCAPG2	54892	broad.mit.edu	37	7	158454900	158454900	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:158454900G>A	ENST00000409423.1	-	17	2147	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L	NCAPG2_ENST00000275830.10_Silent_p.L451L|NCAPG2_ENST00000449727.2_Silent_p.L659L|NCAPG2_ENST00000356309.3_Silent_p.L659L|NCAPG2_ENST00000409339.3_Silent_p.L659L|NCAPG2_ENST00000541468.1_Silent_p.L160L	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	659					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AATACTTTCAGATACTCTGGA	0.323																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1975-1977)Ctg>Ttg		non-SMC condensin II complex, subunit G2							58.0	54.0	55.0					7																	158454900		1822	4082	5904	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158454900G>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1975C>T	7.37:g.158454900G>A						NCAPG2_ENST00000541468.1_Silent_p.L160L|NCAPG2_ENST00000409423.1_Silent_p.L659L|NCAPG2_ENST00000356309.3_Silent_p.L659L|NCAPG2_ENST00000275830.10_Silent_p.L451L|NCAPG2_ENST00000449727.2_Silent_p.L659L	p.L659L			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	16	2088	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	659					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.1975C>T	CCDS43686.1																																																																																				0.323	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		20	50	0	0	0	0.575678	0	20	50				
IGHMBP2	3508	broad.mit.edu	37	11	68696781	68696781	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:68696781G>A	ENST00000255078.3	+	8	1302	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	397	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTGCATCCTGGCGGGCGATC	0.632																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1189-1191)ctG>ctA		immunoglobulin mu binding protein 2							94.0	82.0	86.0					11																	68696781		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68696781G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1191G>A	11.37:g.68696781G>A							p.L397L	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1302	+			397			Leu-rich.		A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.1191G>A	CCDS8187.1																																																																																				0.632	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		167	390	0	0	0	0.870114	0	167	390				
SF3A2	8175	broad.mit.edu	37	19	2248215	2248215	+	Silent	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:2248215T>C	ENST00000221494.5	+	9	1483	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	355	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGCCCCTGGGGTTCACC	0.736																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1063-1065)ccT>ccC		splicing factor 3a, subunit 2, 66kDa							2.0	3.0	2.0					19																	2248215		1307	3060	4367	SO:0001819	synonymous_variant	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248215T>C	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1065T>C	19.37:g.2248215T>C							p.P355P	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1483	+		Hepatocellular(1079;0.137)	355			Pro-rich.		B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	c.1065T>C	CCDS12084.1																																																																																				0.736	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			4	3	0	0	0	0.150653	0	4	3				
TXN	7295	broad.mit.edu	37	9	113013678	113013678	+	Missense_Mutation	SNP	G	G	A	rs547387406	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr9:113013678G>A	ENST00000374517.5	-	2	293	c.89C>T	c.(88-90)aCg>aTg	p.T30M	TXN_ENST00000374515.5_Missense_Mutation_p.T30M	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	30	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		CCCACACCACGTGGCTGAGAA	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		15237	0.0		0.0	False		,,,				2504	0.002					ENST00000374517.5																			0				kidney(1)|skin(1)	2						c.(88-90)aCg>aTg		thioredoxin							62.0	60.0	61.0					9																	113013678		2203	4300	6503	SO:0001583	missense	7295				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:113013678G>A	X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.89C>T	9.37:g.113013678G>A	ENSP00000363641:p.Thr30Met					TXN_ENST00000374515.5_Missense_Mutation_p.T30M	p.T30M	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)	2	293	-			30			Thioredoxin.		B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Missense_Mutation	SNP	ENST00000374517.5	37	c.89C>T	CCDS35103.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052474	0.93793	.	.	ENSG00000136810	ENST00000374517;ENST00000374515	T;T	0.25912	3.88;1.77	5.68	5.68	0.88126	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.188822	0.44902	D	0.000411	T	0.48909	0.1526	H	0.96777	3.88	0.80722	D	1	P;P	0.46327	0.648;0.876	B;B	0.41374	0.177;0.355	T	0.68515	-0.5388	10	0.62326	D	0.03	-9.352	17.2927	0.87162	0.0:0.0:1.0:0.0	.	30;30	B1ALW1;P10599	.;THIO_HUMAN	M	30	ENSP00000363641:T30M;ENSP00000363639:T30M	ENSP00000363639:T30M	T	-	2	0	TXN	112053499	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.551000	0.60740	2.683000	0.91414	0.561000	0.74099	ACG		0.388	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1			16	45	0	0	0	0.575678	0	16	45				
B4GALNT3	283358	broad.mit.edu	37	12	663005	663005	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:663005G>A	ENST00000266383.5	+	14	1929	c.1916G>A	c.(1915-1917)aGt>aAt	p.S639N		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	639					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGACCTTCAGTGCCCGGAAT	0.542																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1915-1917)aGt>aAt		beta-1,4-N-acetyl-galactosaminyl transferase 3							137.0	108.0	118.0					12																	663005		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:663005G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1916G>A	12.37:g.663005G>A	ENSP00000266383:p.Ser639Asn						p.S639N	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1929	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		639					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1916G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046615	0.36085	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.36699	3.27;1.24	5.76	4.87	0.63330	.	0.200210	0.56097	D	0.000031	T	0.28433	0.0703	L	0.49640	1.575	0.31721	N	0.638287	B;B	0.32245	0.126;0.361	B;B	0.27170	0.023;0.077	T	0.29397	-1.0013	10	0.35671	T	0.21	-20.7889	8.452	0.32877	0.2167:0.0:0.7833:0.0	.	542;639	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	N	639;542	ENSP00000266383:S639N;ENSP00000322953:S542N	ENSP00000266383:S639N	S	+	2	0	B4GALNT3	533266	1.000000	0.71417	0.963000	0.40424	0.423000	0.31445	4.479000	0.60236	2.728000	0.93425	0.655000	0.94253	AGT		0.542	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		11	181	0	0	0	0.387290	0	11	181				
MANBA	4126	broad.mit.edu	37	4	103578879	103578879	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:103578879T>C	ENST00000226578.4	-	12	1763	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	MANBA_ENST00000505239.1_Missense_Mutation_p.Y498C	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	555					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CTGATATCCATATTCAGATGC	0.358																																						ENST00000226578.4																			0				cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1663-1665)tAt>tGt		mannosidase, beta A, lysosomal							107.0	101.0	103.0					4																	103578879		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103578879T>C		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1664A>G	4.37:g.103578879T>C	ENSP00000226578:p.Tyr555Cys					MANBA_ENST00000505239.1_Missense_Mutation_p.Y498C	p.Y555C	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	12	1763	-		Hepatocellular(203;0.217)	555					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.1664A>G	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269518	0.80469	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	D;D	0.83591	-1.74;-1.74	5.23	5.23	0.72850	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93648	0.7971	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95449	0.8532	10	0.87932	D	0	-24.7598	15.1324	0.72536	0.0:0.0:0.0:1.0	.	498;555	E9PFW2;O00462	.;MANBA_HUMAN	C	555;498	ENSP00000226578:Y555C;ENSP00000427322:Y498C	ENSP00000226578:Y555C	Y	-	2	0	MANBA	103797927	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.613000	0.82986	1.974000	0.57490	0.528000	0.53228	TAT		0.358	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			33	105	0	0	0	0.804634	0	33	105				
CEACAM4	1089	broad.mit.edu	37	19	42128134	42128134	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:42128134G>A	ENST00000221954.2	-	3	542	c.432C>T	c.(430-432)aaC>aaT	p.N144N	CEACAM4_ENST00000600925.1_Silent_p.N144N	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	144						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGCCTGGGACGTTGTTTTCTG	0.602																																						ENST00000221954.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(430-432)aaC>aaT		carcinoembryonic antigen-related cell adhesion molecule 4							55.0	52.0	53.0					19																	42128134		2203	4300	6503	SO:0001819	synonymous_variant	1089					integral to plasma membrane|membrane fraction		g.chr19:42128134G>A	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.432C>T	19.37:g.42128134G>A						CEACAM4_ENST00000600925.1_Silent_p.N144N	p.N144N	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			3	542	-			144					Q03715|Q7LDZ7	Silent	SNP	ENST00000221954.2	37	c.432C>T	CCDS33033.1																																																																																				0.602	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		37	74	0	0	0	0.804634	0	37	74				
PARD3	56288	broad.mit.edu	37	10	34671476	34671476	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:34671476A>C	ENST00000374789.3	-	9	1716	c.1391T>G	c.(1390-1392)cTt>cGt	p.L464R	PARD3_ENST00000544292.1_Missense_Mutation_p.L194R|PARD3_ENST00000340077.5_Missense_Mutation_p.L464R|PARD3_ENST00000350537.4_Missense_Mutation_p.L464R|PARD3_ENST00000374794.3_Missense_Mutation_p.L420R|PARD3_ENST00000346874.4_Missense_Mutation_p.L464R|PARD3_ENST00000545693.1_Missense_Mutation_p.L464R|PARD3_ENST00000374790.3_Missense_Mutation_p.L420R|PARD3_ENST00000374776.1_Missense_Mutation_p.L464R|PARD3_ENST00000374773.1_Missense_Mutation_p.L464R|PARD3_ENST00000545260.1_Missense_Mutation_p.L420R|PARD3_ENST00000374788.3_Missense_Mutation_p.L464R	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	464	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACCTTTCTTAAGCTGGATATT	0.393																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1390-1392)cTt>cGt		par-3 family cell polarity regulator							111.0	115.0	114.0					10																	34671476		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671476A>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1391T>G	10.37:g.34671476A>C	ENSP00000363921:p.Leu464Arg					PARD3_ENST00000346874.4_Missense_Mutation_p.L464R|PARD3_ENST00000374790.3_Missense_Mutation_p.L420R|PARD3_ENST00000374788.3_Missense_Mutation_p.L464R|PARD3_ENST00000545693.1_Missense_Mutation_p.L464R|PARD3_ENST00000374776.1_Missense_Mutation_p.L464R|PARD3_ENST00000544292.1_Missense_Mutation_p.L194R|PARD3_ENST00000350537.4_Missense_Mutation_p.L464R|PARD3_ENST00000374794.3_Missense_Mutation_p.L420R|PARD3_ENST00000340077.5_Missense_Mutation_p.L464R|PARD3_ENST00000545260.1_Missense_Mutation_p.L420R|PARD3_ENST00000374773.1_Missense_Mutation_p.L464R	p.L464R	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1716	-		Breast(68;0.0707)	464			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1391T>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639943	0.87760	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.88	5.88	0.94601	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	H	0.94183	3.505	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.992;0.981;0.984;0.997;0.984;0.997;0.997;0.988;0.988;0.998;1.0;0.994;1.0;1.0;1.0	D;P;P;D;P;D;D;D;D;D;D;D;D;D;D	0.85130	0.943;0.742;0.882;0.948;0.882;0.961;0.948;0.928;0.95;0.969;0.997;0.973;0.997;0.997;0.984	T	0.75178	-0.3409	10	0.87932	D	0	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	420;420;464;464;464;464;464;464;420;464;464;464;464;464;194	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	R	464;420;464;464;464;420;464;420;464;464;464;194	ENSP00000443147:L464R;ENSP00000440857:L420R;ENSP00000363921:L464R;ENSP00000363920:L464R;ENSP00000340591:L464R;ENSP00000363926:L420R;ENSP00000311986:L464R;ENSP00000363922:L420R;ENSP00000363908:L464R;ENSP00000341844:L464R;ENSP00000363905:L464R;ENSP00000444429:L194R	ENSP00000341844:L464R	L	-	2	0	PARD3	34711482	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	8.624000	0.90961	2.246000	0.74042	0.533000	0.62120	CTT		0.393	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		47	142	0	0	0	0.870114	0	47	142				
OR2B6	26212	broad.mit.edu	37	6	27925495	27925495	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:27925495G>A	ENST00000244623.1	+	1	477	c.477G>A	c.(475-477)ttG>ttA	p.L159L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGTGTGGTTGTCTACCCTGA	0.488																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(475-477)ttG>ttA		olfactory receptor, family 2, subfamily B, member 6							108.0	112.0	111.0					6																	27925495		2203	4300	6503	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925495G>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.477G>A	6.37:g.27925495G>A							p.L159L	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	477	+			159					O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.477G>A	CCDS4642.1																																																																																				0.488	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			44	103	0	0	0	0.840704	0	44	103				
SH2D7	646892	broad.mit.edu	37	15	78393518	78393518	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:78393518C>T	ENST00000328828.5	+	5	923	c.923C>T	c.(922-924)cCc>cTc	p.P308L	SH2D7_ENST00000409568.2_Missense_Mutation_p.P172L	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	308										endometrium(2)|kidney(2)|lung(3)	7						GACCAGGGTCCCACAGAGTCT	0.617																																						ENST00000328828.5																			0				endometrium(2)|kidney(2)|lung(3)	7						c.(922-924)cCc>cTc		SH2 domain containing 7							20.0	22.0	21.0					15																	78393518		1877	4114	5991	SO:0001583	missense	646892							g.chr15:78393518C>T		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.923C>T	15.37:g.78393518C>T	ENSP00000327846:p.Pro308Leu					SH2D7_ENST00000409568.2_Missense_Mutation_p.P172L	p.P308L	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN			5	923	+			308						Missense_Mutation	SNP	ENST00000328828.5	37	c.923C>T	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803975	0.31869	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.33654	1.4;1.56	4.56	-1.55	0.08558	.	1.081360	0.07139	N	0.846955	T	0.21801	0.0525	L	0.27053	0.805	0.09310	N	1	B	0.17465	0.022	B	0.15052	0.012	T	0.32241	-0.9914	10	0.56958	D	0.05	-1.0856	2.5846	0.04827	0.4591:0.291:0.1525:0.0974	.	308	A6NKC9	SH2D7_HUMAN	L	172;308	ENSP00000386676:P172L;ENSP00000327846:P308L	ENSP00000327846:P308L	P	+	2	0	SH2D7	76180573	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.320000	0.08028	0.060000	0.16281	0.655000	0.94253	CCC		0.617	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		8	26	0	0	0	0.307466	0	8	26				
STAU1	6780	broad.mit.edu	37	20	47752436	47752436	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:47752436G>C	ENST00000371856.2	-	6	953	c.543C>G	c.(541-543)ctC>ctG	p.L181L	STAU1_ENST00000371802.1_Silent_p.L100L|STAU1_ENST00000347458.5_Silent_p.L100L|STAU1_ENST00000360426.4_Silent_p.L100L|STAU1_ENST00000340954.7_Silent_p.L100L|STAU1_ENST00000371828.3_Silent_p.L100L|STAU1_ENST00000371792.1_Silent_p.L100L	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	181					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CAGATTTATTGAGATTTTCTT	0.343																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(298-300)ctC>ctG		staufen double-stranded RNA binding protein 1							101.0	91.0	94.0					20																	47752436		2202	4299	6501	SO:0001819	synonymous_variant	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47752436G>C		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.543C>G	20.37:g.47752436G>C						STAU1_ENST00000340954.7_Silent_p.L100L|STAU1_ENST00000347458.5_Silent_p.L100L|STAU1_ENST00000371792.1_Silent_p.L100L|STAU1_ENST00000360426.4_Silent_p.L100L|STAU1_ENST00000371802.1_Silent_p.L100L|STAU1_ENST00000371856.2_Silent_p.L181L	p.L100L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		6	787	-			181			DRBM 1.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	ENST00000371856.2	37	c.300C>G	CCDS13414.1																																																																																				0.343	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		12	54	0	0	0	0.457914	0	12	54				
EIF4G1	1981	broad.mit.edu	37	3	184039213	184039213	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:184039213G>T	ENST00000346169.2	+	10	1112	c.841G>T	c.(841-843)Gca>Tca	p.A281S	EIF4G1_ENST00000414031.1_Missense_Mutation_p.A241S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A85S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A288S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A85S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A194S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A281S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A117S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A241S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A117S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A288S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A288S|EIF4G1_ENST00000342981.4_Missense_Mutation_p.A281S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A194S	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	281					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTAATCTCGCAGTCCTCTC	0.552																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(841-843)Gca>Tca		eukaryotic translation initiation factor 4 gamma, 1							49.0	54.0	52.0					3																	184039213		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039213G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.841G>T	3.37:g.184039213G>T	ENSP00000316879:p.Ala281Ser					EIF4G1_ENST00000424196.1_Missense_Mutation_p.A288S|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A281S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A288S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A288S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A241S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A117S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A241S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A85S|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A194S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A194S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A85S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A117S|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A281S	p.A281S	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1255	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		281					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.841G>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398581	0.11696	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45668	4.01;4.02;3.93;0.95;2.95;2.94;4.02;3.13;3.83;4.02;3.92;4.02;4.01;4.02;4.01;2.54;3.84;0.96;3.77;0.89;1.6;3.76	5.5	-1.25	0.09405	.	1.621950	0.02967	N	0.143956	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20261	0.043;0.043;0.043;0.0	B;B;B;B	0.23275	0.03;0.045;0.03;0.001	T	0.13548	-1.0505	10	0.09590	T	0.72	0.5884	4.9704	0.14113	0.4276:0.0:0.4378:0.1347	.	288;281;281;288	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	S	281;241;194;85;281;288;288;222;117;288;194;281;281;288;241;117;117;85;85;85;85;85	ENSP00000316879:A281S;ENSP00000391935:A241S;ENSP00000376320:A194S;ENSP00000407244:A85S;ENSP00000391412:A281S;ENSP00000413159:A288S;ENSP00000371767:A288S;ENSP00000403269:A222S;ENSP00000317600:A117S;ENSP00000338020:A288S;ENSP00000407682:A194S;ENSP00000343450:A281S;ENSP00000323737:A281S;ENSP00000416255:A288S;ENSP00000395974:A241S;ENSP00000398145:A117S;ENSP00000399858:A117S;ENSP00000411707:A85S;ENSP00000411826:A85S;ENSP00000409545:A85S;ENSP00000399969:A85S;ENSP00000404754:A85S	ENSP00000323737:A281S	A	+	1	0	EIF4G1	185521907	0.000000	0.05858	0.097000	0.21041	0.887000	0.51463	-0.531000	0.06171	-0.131000	0.11578	-0.136000	0.14681	GCA		0.552	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		24	116	1	0	7.87624e-14	0.639603	8.70824e-14	24	116				
NAV1	89796	broad.mit.edu	37	1	201778369	201778369	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:201778369C>T	ENST00000367296.4	+	21	4705	c.4285C>T	c.(4285-4287)Ccg>Tcg	p.P1429S	NAV1_ENST00000367297.4_Missense_Mutation_p.P1421S|NAV1_ENST00000295624.6_Missense_Mutation_p.P1426S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.P1382S|NAV1_ENST00000367300.3_Missense_Mutation_p.P1369S|NAV1_ENST00000367295.1_Missense_Mutation_p.P1035S|MIR1231_ENST00000408101.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1429					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAGGATGCCCCCGCAGCACAT	0.507																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4285-4287)Ccg>Tcg		neuron navigator 1							118.0	115.0	116.0					1																	201778369		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201778369C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4285C>T	1.37:g.201778369C>T	ENSP00000356265:p.Pro1429Ser					NAV1_ENST00000367300.3_Missense_Mutation_p.P1369S|NAV1_ENST00000367295.1_Missense_Mutation_p.P1035S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.P1421S|NAV1_ENST00000295624.6_Missense_Mutation_p.P1426S|NAV1_ENST00000367302.1_Missense_Mutation_p.P1382S	p.P1429S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			21	4705	+			1429					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.4285C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749671	0.49257	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.39	5.56	5.56	0.83823	.	0.278041	0.36628	N	0.002484	T	0.07413	0.0187	N	0.19112	0.55	0.45567	D	0.998511	P;P	0.47910	0.902;0.792	B;B	0.43301	0.415;0.318	T	0.24154	-1.0168	10	0.56958	D	0.05	-34.6533	19.1322	0.93412	0.0:1.0:0.0:0.0	.	1035;1426	Q8NEY1-5;Q8NEY1-3	.;.	S	1382;1429;1426;1421;1369;1035	ENSP00000356271:P1382S;ENSP00000356265:P1429S;ENSP00000295624:P1426S;ENSP00000356266:P1421S;ENSP00000356269:P1369S;ENSP00000356264:P1035S	ENSP00000295624:P1426S	P	+	1	0	NAV1	200044992	0.750000	0.28316	0.969000	0.41365	0.975000	0.68041	2.982000	0.49337	2.610000	0.88304	0.551000	0.68910	CCG		0.507	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		13	240	0	0	0	0.435327	0	13	240				
KIAA1755	85449	broad.mit.edu	37	20	36850904	36850904	+	Silent	SNP	G	G	T	rs536659875		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:36850904G>T	ENST00000279024.4	-	10	2635	c.2364C>A	c.(2362-2364)acC>acA	p.T788T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	788										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCCTGGCCAGGGTGGCTCCAC	0.637											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2362-2364)acC>acA		KIAA1755							61.0	58.0	59.0					20																	36850904		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36850904G>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2364C>A	20.37:g.36850904G>T			OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866		p.T788T	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			10	2635	-		Myeloproliferative disorder(115;0.00874)	788					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.2364C>A	CCDS33467.1																																																																																				0.637	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		35	95	1	0	2.75727e-19	0.804634	3.1369e-19	35	95				
GFPT1	2673	broad.mit.edu	37	2	69601183	69601183	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:69601183T>G	ENST00000357308.4	-	2	248	c.70A>C	c.(70-72)Atc>Ctc	p.I24L	GFPT1_ENST00000361060.5_Missense_Mutation_p.I24L|GFPT1_ENST00000494201.1_5'UTR	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	24	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AGGCCTTTGATTAGGGTCTCC	0.323																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(70-72)Atc>Ctc		glutamine--fructose-6-phosphate transaminase 1							94.0	94.0	94.0					2																	69601183		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69601183T>G		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.70A>C	2.37:g.69601183T>G	ENSP00000349860:p.Ile24Leu					GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.4_Missense_Mutation_p.I24L	p.I24L	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			2	248	-			24			Glutamine amidotransferase type-2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.70A>C	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	T	7.112	0.576131	0.13623	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.75154	-0.91;-0.91	5.16	3.98	0.46160	.	0.111047	0.64402	N	0.000013	T	0.56352	0.1979	L	0.28274	0.84	0.50313	D	0.999864	B	0.09022	0.002	B	0.14578	0.011	T	0.47420	-0.9119	10	0.05833	T	0.94	-8.8512	11.0482	0.47872	0.0:0.0:0.1561:0.8439	.	24	Q06210-2	.	L	24	ENSP00000349860:I24L;ENSP00000354347:I24L	ENSP00000349860:I24L	I	-	1	0	GFPT1	69454687	0.942000	0.31987	0.999000	0.59377	0.999000	0.98932	1.403000	0.34612	0.951000	0.37770	0.533000	0.62120	ATC		0.323	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				43	127	0	0	0	0.870114	0	43	127				
SCO2	9997	broad.mit.edu	37	22	50962761	50962761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:50962761C>T	ENST00000543927.1	-	2	286	c.80G>A	c.(79-81)gGa>gAa	p.G27E	SCO2_ENST00000252785.3_Missense_Mutation_p.G27E|SCO2_ENST00000535425.1_Missense_Mutation_p.G27E|SCO2_ENST00000395693.3_Missense_Mutation_p.G27E|CTA-384D8.36_ENST00000608319.1_RNA	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	27					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCTGGCCTCCCAGGGTCCC	0.662																																						ENST00000543927.1																			0				endometrium(1)|lung(1)	2						c.(79-81)gGa>gAa		SCO2 cytochrome c oxidase assembly protein							19.0	22.0	21.0					22																	50962761		2196	4279	6475	SO:0001583	missense	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962761C>T	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.80G>A	22.37:g.50962761C>T	ENSP00000444433:p.Gly27Glu					SCO2_ENST00000395693.3_Missense_Mutation_p.G27E|SCO2_ENST00000535425.1_Missense_Mutation_p.G27E|SCO2_ENST00000252785.3_Missense_Mutation_p.G27E	p.G27E	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	286	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	27					Q3T1B5|Q9UK87	Missense_Mutation	SNP	ENST00000543927.1	37	c.80G>A	CCDS14095.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510684	0.44660	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785;ENST00000439934;ENST00000423348	D;D;D;D;T;T	0.83419	-1.72;-1.72;-1.72;-1.72;-0.58;-0.58	3.28	3.28	0.37604	.	0.657383	0.13080	N	0.415393	T	0.77198	0.4095	L	0.32530	0.975	0.30285	N	0.790955	D	0.63880	0.993	P	0.51806	0.68	T	0.68318	-0.5440	10	0.06099	T	0.92	-1.0783	10.3307	0.43820	0.0:1.0:0.0:0.0	.	27	O43819	SCO2_HUMAN	E	27	ENSP00000379046:G27E;ENSP00000444433:G27E;ENSP00000444242:G27E;ENSP00000252785:G27E;ENSP00000415642:G27E;ENSP00000403570:G27E	ENSP00000252785:G27E	G	-	2	0	SCO2	49309627	0.000000	0.05858	0.111000	0.21465	0.010000	0.07245	0.535000	0.23114	2.153000	0.67306	0.563000	0.77884	GGA		0.662	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		10	60	0	0	0	0.520397	0	10	60				
CDH23	64072	broad.mit.edu	37	10	73553321	73553321	+	Silent	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:73553321C>A	ENST00000224721.6	+	47	6656	c.6651C>A	c.(6649-6651)gtC>gtA	p.V2217V	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2212	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 8; BAB61902). {ECO:0000305}.	calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCACATTGTCGGCATTGTGG	0.567																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(6649-6651)gtC>gtA		cadherin-related 23							57.0	63.0	61.0					10																	73553321		2146	4260	6406	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73553321C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6651C>A	10.37:g.73553321C>A							p.V2217V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			47	6656	+			2212	EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).		Cadherin 21.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.6651C>A																																																																																					0.567	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		18	43	1	0	3.52763e-06	0.520397	3.71703e-06	18	43				
MTF2	22823	broad.mit.edu	37	1	93602313	93602313	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:93602313C>A	ENST00000370298.4	+	15	1800	c.1511C>A	c.(1510-1512)cCa>cAa	p.P504Q	MTF2_ENST00000540243.1_Missense_Mutation_p.P402Q|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Missense_Mutation_p.P402Q|MTF2_ENST00000370303.4_Missense_Mutation_p.P447Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	504					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GGTCGTCTTCCAAGAAGAGCA	0.408																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1510-1512)cCa>cAa		metal response element binding transcription factor 2							93.0	89.0	90.0					1																	93602313		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93602313C>A	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1511C>A	1.37:g.93602313C>A	ENSP00000359321:p.Pro504Gln					MTF2_ENST00000545708.1_Missense_Mutation_p.P402Q|MTF2_ENST00000370303.4_Missense_Mutation_p.P447Q|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.P402Q	p.P504Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	15	1800	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	504					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.1511C>A	CCDS742.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012566	0.93346	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.34072	1.38;1.38;1.78;1.68	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	N	0.24115	0.695	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.992	P;P;P	0.62089	0.881;0.898;0.741	T	0.15206	-1.0445	10	0.46703	T	0.11	-5.6184	19.8247	0.96612	0.0:1.0:0.0:0.0	.	447;504;402	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	Q	402;402;504;447	ENSP00000444962:P402Q;ENSP00000443295:P402Q;ENSP00000359321:P504Q;ENSP00000359326:P447Q	ENSP00000359321:P504Q	P	+	2	0	MTF2	93374901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.870000	0.75526	2.696000	0.92011	0.655000	0.94253	CCA		0.408	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		43	111	1	0	5.59293e-11	0.827153	6.05579e-11	43	111				
LRRTM1	347730	broad.mit.edu	37	2	80530937	80530937	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:80530937A>G	ENST00000295057.3	-	2	664	c.8T>C	c.(7-9)tTc>tCc	p.F3S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.F3S|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	3					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGCAGCAGGAAATCCATTAG	0.562										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(7-9)tTc>tCc		leucine rich repeat transmembrane neuronal 1							27.0	29.0	28.0					2																	80530937		2006	4142	6148	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530937A>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.8T>C	2.37:g.80530937A>G	ENSP00000295057:p.Phe3Ser	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.F3S|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	p.F3S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	664	-			3					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.8T>C	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984235	0.53827	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.55413	0.96;0.96;0.68;0.52;1.41	4.46	4.46	0.54185	.	0.000000	0.85682	U	0.000000	T	0.65249	0.2673	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.64558	-0.6379	9	.	.	.	.	13.7352	0.62813	1.0:0.0:0.0:0.0	.	3	Q86UE6	LRRT1_HUMAN	S	3	ENSP00000295057:F3S;ENSP00000386646:F3S;ENSP00000415368:F3S;ENSP00000389473:F3S;ENSP00000404557:F3S	.	F	-	2	0	LRRTM1	80384448	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.308000	0.96247	1.646000	0.50622	0.155000	0.16302	TTC		0.562	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		19	59	0	0	0	0.624587	0	19	59				
PPP1R3C	5507	broad.mit.edu	37	10	93390209	93390209	+	Silent	SNP	G	G	A	rs35287022	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:93390209G>A	ENST00000238994.5	-	2	513	c.429C>T	c.(427-429)acC>acT	p.T143T		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TTAAGTAATCGGTTGAAGGCT	0.433													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19895	0.0		0.0	False		,,,				2504	0.0					ENST00000238994.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(427-429)acC>acT		protein phosphatase 1, regulatory subunit 3C		G		11,4395	16.8+/-37.8	0,11,2192	88.0	89.0	89.0		429	-5.8	0.0	10	dbSNP_126	89	0,8600		0,0,4300	no	coding-synonymous	PPP1R3C	NM_005398.4		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		143/318	93390209	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	5507						protein serine/threonine phosphatase activity	g.chr10:93390209G>A	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.429C>T	10.37:g.93390209G>A							p.T143T	NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN			2	513	-		Colorectal(252;0.235)	143			Interaction with EPM2A.			Silent	SNP	ENST00000238994.5	37	c.429C>T	CCDS7416.1																																																																																				0.433	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		48	125	0	0	0	0.870114	0	48	125				
TNS3	64759	broad.mit.edu	37	7	47385791	47385791	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:47385791G>C	ENST00000398879.1	-	18	2811	c.2445C>G	c.(2443-2445)gtC>gtG	p.V815V	TNS3_ENST00000355730.3_Silent_p.V575V|TNS3_ENST00000311160.9_Silent_p.V815V			Q68CZ2	TENS3_HUMAN	tensin 3	815					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATACCTCTTTGACGTCCGCTG	0.592																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(2443-2445)gtC>gtG		tensin 3							60.0	63.0	62.0					7																	47385791		2016	4177	6193	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47385791G>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2445C>G	7.37:g.47385791G>C						TNS3_ENST00000311160.9_Silent_p.V815V|TNS3_ENST00000355730.3_Silent_p.V575V	p.V815V			Q68CZ2	TENS3_HUMAN			18	2811	-			815					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.2445C>G	CCDS5506.2																																																																																				0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		26	101	0	0	0	0.769981	0	26	101				
MED14	9282	broad.mit.edu	37	X	40571488	40571488	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:40571488G>T	ENST00000324817.1	-	7	957	c.839C>A	c.(838-840)tCt>tAt	p.S280Y		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	280	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGAGCCTAGACTGCACCAG	0.408																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(838-840)tCt>tAt		mediator complex subunit 14							193.0	163.0	173.0					X																	40571488		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40571488G>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.839C>A	X.37:g.40571488G>T	ENSP00000323720:p.Ser280Tyr						p.S280Y	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			7	957	-			280			Interaction with STAT2.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.839C>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572051	0.65765	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.57	5.57	0.84162	.	0.050155	0.85682	D	0.000000	T	0.66713	0.2817	L	0.57536	1.79	0.80722	D	1	B	0.18863	0.031	B	0.18263	0.021	T	0.64753	-0.6333	9	0.72032	D	0.01	.	18.557	0.91089	0.0:0.0:1.0:0.0	.	280	O60244	MED14_HUMAN	Y	280	.	ENSP00000323720:S280Y	S	-	2	0	MED14	40456432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.383000	0.97214	2.325000	0.78763	0.600000	0.82982	TCT		0.408	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		115	104	1	0	3.62976e-74	0.870114	4.35016e-74	115	104				
AGT	183	broad.mit.edu	37	1	230846411	230846411	+	Silent	SNP	G	G	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:230846411G>C	ENST00000366667.4	-	2	400	c.186C>G	c.(184-186)ccC>ccG	p.P62P	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	62					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGGGTCTTTGGGCTTCCCGG	0.567																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(184-186)ccC>ccG		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						94.0	95.0	94.0					1																	230846411		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230846411G>C	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.186C>G	1.37:g.230846411G>C							p.P62P	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	400	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	62					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.186C>G	CCDS1585.1																																																																																				0.567	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		8	103	0	0	0	0.361761	0	8	103				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	105	0	0	0	0.361761	0	9	105				
SPTBN2	6712	broad.mit.edu	37	11	66463950	66463950	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:66463950C>G	ENST00000533211.1	-	21	4407	c.4076G>C	c.(4075-4077)aGa>aCa	p.R1359T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1359T|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1359T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1359					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTGCAGGTCTCTCAGCTTCTC	0.587																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4075-4077)aGa>aCa		spectrin, beta, non-erythrocytic 2							100.0	111.0	107.0					11																	66463950		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66463950C>G	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4076G>C	11.37:g.66463950C>G	ENSP00000432568:p.Arg1359Thr					SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1359T|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1359T	p.R1359T			O15020	SPTN2_HUMAN			21	4407	-			1359					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.4076G>C	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	6.327	0.428474	0.11987	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.49432	0.78;0.78;0.78	4.7	-2.76	0.05896	.	0.861724	0.10408	N	0.678264	T	0.22126	0.0533	N	0.11756	0.17	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24512	-1.0158	10	0.14252	T	0.57	.	6.0478	0.19770	0.0:0.1941:0.3568:0.4491	.	1359	O15020	SPTN2_HUMAN	T	1359	ENSP00000432568:R1359T;ENSP00000311489:R1359T;ENSP00000433593:R1359T	ENSP00000311489:R1359T	R	-	2	0	SPTBN2	66220526	0.000000	0.05858	0.045000	0.18777	0.947000	0.59692	-3.318000	0.00514	-0.637000	0.05516	0.557000	0.71058	AGA		0.587	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		75	236	0	0	0	0.870114	0	75	236				
EIF4G1	1981	broad.mit.edu	37	3	184039214	184039214	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:184039214C>T	ENST00000346169.2	+	10	1113	c.842C>T	c.(841-843)gCa>gTa	p.A281V	EIF4G1_ENST00000414031.1_Missense_Mutation_p.A241V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A85V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A288V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A85V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A194V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A281V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A117V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A241V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A117V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A288V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A288V|EIF4G1_ENST00000342981.4_Missense_Mutation_p.A281V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A194V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	281					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTAATCTCGCAGTCCTCTCT	0.547																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(841-843)gCa>gTa		eukaryotic translation initiation factor 4 gamma, 1							49.0	54.0	52.0					3																	184039214		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039214C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.842C>T	3.37:g.184039214C>T	ENSP00000316879:p.Ala281Val					EIF4G1_ENST00000424196.1_Missense_Mutation_p.A288V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A281V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A288V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A288V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A241V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A117V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A241V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A85V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A194V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A194V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A85V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A117V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A281V	p.A281V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1256	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		281					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.842C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828529	0.32329	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	3.96;3.97;3.88;0.79;2.93;2.91;3.98;3.1;3.79;3.98;3.87;3.97;3.96;3.98;3.96;2.51;3.8;0.93;3.75;0.85;1.51;3.74	5.2	3.35	0.38373	.	1.621950	0.02967	N	0.143956	T	0.37128	0.0992	N	0.19112	0.55	0.09310	N	0.999998	B;B;B;B	0.23058	0.079;0.079;0.079;0.005	B;B;B;B	0.26517	0.031;0.07;0.031;0.005	T	0.26744	-1.0094	10	0.30078	T	0.28	0.5884	8.0598	0.30627	0.1706:0.6386:0.1908:0.0	.	288;281;281;288	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	V	281;241;194;85;281;288;288;222;117;288;194;281;281;288;241;117;117;85;85;85;85;85	ENSP00000316879:A281V;ENSP00000391935:A241V;ENSP00000376320:A194V;ENSP00000407244:A85V;ENSP00000391412:A281V;ENSP00000413159:A288V;ENSP00000371767:A288V;ENSP00000403269:A222V;ENSP00000317600:A117V;ENSP00000338020:A288V;ENSP00000407682:A194V;ENSP00000343450:A281V;ENSP00000323737:A281V;ENSP00000416255:A288V;ENSP00000395974:A241V;ENSP00000398145:A117V;ENSP00000399858:A117V;ENSP00000411707:A85V;ENSP00000411826:A85V;ENSP00000409545:A85V;ENSP00000399969:A85V;ENSP00000404754:A85V	ENSP00000323737:A281V	A	+	2	0	EIF4G1	185521908	0.462000	0.25791	0.603000	0.28903	0.908000	0.53690	0.902000	0.28459	0.821000	0.34540	0.655000	0.94253	GCA		0.547	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		24	114	0	0	0	0.624587	0	24	114				
NALCN	259232	broad.mit.edu	37	13	101759854	101759854	+	Nonsense_Mutation	SNP	G	G	A	rs376152742		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr13:101759854G>A	ENST00000251127.6	-	22	2644	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	855					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R855*(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCGTGCTCGGACCACCACC	0.507																																						ENST00000251127.6																			1	Substitution - Nonsense(1)	p.R855*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2563-2565)Cga>Tga		sodium leak channel, non-selective		G	stop/ARG	0,4406		0,0,2203	125.0	109.0	114.0		2563	4.7	1.0	13		114	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	NALCN	NM_052867.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		855/1739	101759854	1,13005	2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759854G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2563C>T	13.37:g.101759854G>A	ENSP00000251127:p.Arg855*						p.R855*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			22	2644	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		855					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.2563C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	42	9.290933	0.99127	0.0	1.16E-4	ENSG00000102452	ENST00000251127	.	.	.	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	15.014	0.71570	0.0:0.0:0.7461:0.2539	.	.	.	.	X	855	.	ENSP00000251127:R855X	R	-	1	2	NALCN	100557855	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.572000	0.60886	2.630000	0.89119	0.650000	0.86243	CGA		0.507	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		60	68	0	0	0	0.870114	0	60	68				
ARHGAP35	2909	broad.mit.edu	37	19	47424000	47424000	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:47424000G>A	ENST00000404338.3	+	1	2068	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	690					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GGGCCGGCGGGATAATCATTT	0.463																																						ENST00000404338.3																			0											c.(2068-2070)Gat>Aat		Rho GTPase activating protein 35							28.0	28.0	28.0					19																	47424000		1942	4140	6082	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424000G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2068G>A	19.37:g.47424000G>A	ENSP00000385720:p.Asp690Asn						p.D690N	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2068	+			690					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2068G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127713	0.56721	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.11712	2.75	5.88	5.88	0.94601	.	0.196555	0.52532	D	0.000069	T	0.26666	0.0652	L	0.58810	1.83	0.53005	D	0.999965	D	0.56287	0.975	P	0.55508	0.777	T	0.00058	-1.2168	10	0.87932	D	0	-23.9448	18.9999	0.92829	0.0:0.0:1.0:0.0	.	690	Q9NRY4-2	.	N	690	ENSP00000385720:D690N	ENSP00000324820:D690N	D	+	1	0	ARHGAP35	52115840	1.000000	0.71417	0.997000	0.53966	0.003000	0.03518	9.866000	0.99616	2.785000	0.95823	0.650000	0.86243	GAT		0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		10	30	0	0	0	0.335167	0	10	30				
SMO	6608	broad.mit.edu	37	7	128852282	128852282	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:128852282C>T	ENST00000249373.3	+	12	2634	c.2354C>T	c.(2353-2355)tCg>tTg	p.S785L	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	785					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GATGCAGACTCGGACTTCTGA	0.607			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2353-2355)tCg>tTg		smoothened, frizzled family receptor							43.0	48.0	46.0					7																	128852282		2203	4298	6501	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128852282C>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2354C>T	7.37:g.128852282C>T	ENSP00000249373:p.Ser785Leu					RP11-286H14.8_ENST00000466717.1_RNA	p.S785L	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			12	2634	+			785					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.2354C>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697043	0.48202	.	.	ENSG00000128602	ENST00000249373	D	0.82344	-1.6	5.2	5.2	0.72013	.	0.060865	0.64402	D	0.000002	T	0.69575	0.3126	N	0.14661	0.345	0.49915	D	0.999839	B	0.15930	0.015	B	0.06405	0.002	T	0.66114	-0.6004	10	0.45353	T	0.12	.	11.4335	0.50054	0.0:0.9137:0.0:0.0863	.	785	Q99835	SMO_HUMAN	L	785	ENSP00000249373:S785L	ENSP00000249373:S785L	S	+	2	0	SMO	128639518	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.843000	0.55865	2.427000	0.82271	0.655000	0.94253	TCG		0.607	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		26	102	0	0	0	0.717897	0	26	102				
GLI4	2738	broad.mit.edu	37	8	144358773	144358773	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr8:144358773C>T	ENST00000523522.1	+	3	969	c.930C>T	c.(928-930)ctC>ctT	p.L310L	GLI4_ENST00000340042.1_Silent_p.L310L|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	310					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCGTGCTCATCGAGCACC	0.667																																						ENST00000340042.1																			0				endometrium(3)|large_intestine(1)|lung(5)	9						c.(928-930)ctC>ctT		GLI family zinc finger 4							26.0	26.0	26.0					8																	144358773		2201	4298	6499	SO:0001819	synonymous_variant	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358773C>T		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.930C>T	8.37:g.144358773C>T						GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Silent_p.L310L	p.L310L	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	1015	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		310					Q96CK9	Silent	SNP	ENST00000523522.1	37	c.930C>T	CCDS6398.1																																																																																				0.667	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			7	11	0	0	0	0.248553	0	7	11				
MYO6	4646	broad.mit.edu	37	6	76527375	76527375	+	Silent	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:76527375A>G	ENST00000369977.3	+	2	250	c.111A>G	c.(109-111)aaA>aaG	p.K37K	MYO6_ENST00000369975.1_Silent_p.K37K|MYO6_ENST00000369985.4_Silent_p.K37K|MYO6_ENST00000369981.3_Silent_p.K37K	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	37					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGAATCAGAAAGGCAAGGTGA	0.403																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(109-111)aaA>aaG		myosin VI							69.0	68.0	68.0					6																	76527375		2203	4300	6503	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76527375A>G	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.111A>G	6.37:g.76527375A>G						MYO6_ENST00000369977.3_Silent_p.K37K|MYO6_ENST00000369975.1_Silent_p.K37K|MYO6_ENST00000369985.4_Silent_p.K37K	p.K37K			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	2	390	+		all_hematologic(105;0.189)	37			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.111A>G	CCDS34487.1																																																																																				0.403	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		23	98	0	0	0	0.681144	0	23	98				
C8A	731	broad.mit.edu	37	1	57349161	57349161	+	Missense_Mutation	SNP	C	C	T	rs139740733		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:57349161C>T	ENST00000361249.3	+	6	758	c.662C>T	c.(661-663)gCa>gTa	p.A221V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	221	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAGGCCCTGGCAGATACTGGA	0.338																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(661-663)gCa>gTa		complement component 8, alpha polypeptide		C	VAL/ALA	0,4406		0,0,2203	60.0	63.0	62.0		662	5.8	1.0	1	dbSNP_134	62	2,8596	2.2+/-6.3	0,2,4297	no	missense	C8A	NM_000562.2	64	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	221/585	57349161	2,13002	2203	4299	6502	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57349161C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.662C>T	1.37:g.57349161C>T	ENSP00000354458:p.Ala221Val						p.A221V	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			6	758	+			221			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.662C>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765740	0.90020	0.0	2.33E-4	ENSG00000157131	ENST00000361249	T	0.75704	-0.96	5.84	5.84	0.93424	Membrane attack complex component/perforin (MACPF) domain (1);	0.044922	0.85682	D	0.000000	D	0.88040	0.6330	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87659	0.2533	10	0.52906	T	0.07	-14.2137	20.1466	0.98079	0.0:1.0:0.0:0.0	.	221	P07357	CO8A_HUMAN	V	221	ENSP00000354458:A221V	ENSP00000354458:A221V	A	+	2	0	C8A	57121749	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.279000	0.58953	2.779000	0.95612	0.591000	0.81541	GCA		0.338	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		11	104	0	0	0	0.457914	0	11	104				
COL6A3	1293	broad.mit.edu	37	2	238253401	238253401	+	Silent	SNP	C	C	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:238253401C>G	ENST00000295550.4	-	36	7712	c.7260G>C	c.(7258-7260)cgG>cgC	p.R2420R	COL6A3_ENST00000347401.3_Silent_p.R2219R|COL6A3_ENST00000353578.4_Silent_p.R2214R|COL6A3_ENST00000346358.4_Silent_p.R2220R|COL6A3_ENST00000409809.1_Silent_p.R2214R|COL6A3_ENST00000472056.1_Silent_p.R1813R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2420	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCTCGCATCCGGCCGAAAG	0.567																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7258-7260)cgG>cgC		collagen, type VI, alpha 3							81.0	87.0	85.0					2																	238253401		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253401C>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7260G>C	2.37:g.238253401C>G						COL6A3_ENST00000353578.4_Silent_p.R2214R|COL6A3_ENST00000347401.3_Silent_p.R2219R|COL6A3_ENST00000346358.4_Silent_p.R2220R|COL6A3_ENST00000409809.1_Silent_p.R2214R|COL6A3_ENST00000472056.1_Silent_p.R1813R	p.R2420R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7712	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2420			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.7260G>C	CCDS33412.1																																																																																				0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		57	173	0	0	0	0.870114	0	57	173				
PITPNM1	9600	broad.mit.edu	37	11	67261028	67261028	+	Silent	SNP	G	G	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:67261028G>A	ENST00000534749.1	-	21	3383	c.3195C>T	c.(3193-3195)gtC>gtT	p.V1065V	PITPNM1_ENST00000356404.3_Silent_p.V1065V|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.V1064V			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1065					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCGGCCTGTGACATACACGA	0.687																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(3193-3195)gtC>gtT		phosphatidylinositol transfer protein, membrane-associated 1							26.0	27.0	26.0					11																	67261028		2171	4270	6441	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67261028G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3195C>T	11.37:g.67261028G>A						PITPNM1_ENST00000534749.1_Silent_p.V1065V|PITPNM1_ENST00000436757.2_Silent_p.V1064V|PITPNM1_ENST00000526450.1_5'UTR	p.V1065V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			22	3420	-			1065					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.3195C>T	CCDS31620.1																																																																																				0.687	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		10	7	0	0	0	0.411799	0	10	7				
HPS3	84343	broad.mit.edu	37	3	148889972	148889972	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:148889972A>G	ENST00000296051.2	+	17	3118	c.2978A>G	c.(2977-2979)tAt>tGt	p.Y993C	HPS3_ENST00000460120.1_Missense_Mutation_p.Y828C	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	993					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTTGCCATATCTTCTCTAT	0.343									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(2977-2979)tAt>tGt		Hermansky-Pudlak syndrome 3							112.0	107.0	109.0					3																	148889972		2201	4300	6501	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148889972A>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2978A>G	3.37:g.148889972A>G	ENSP00000296051:p.Tyr993Cys					HPS3_ENST00000460120.1_Missense_Mutation_p.Y828C	p.Y993C	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3118	+			993					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2978A>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.246746	0.80024	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.73258	-0.73;-0.71	6.06	6.06	0.98353	.	0.213803	0.50627	D	0.000112	T	0.82107	0.4965	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.983	D	0.83433	0.0039	10	0.72032	D	0.01	-21.0295	16.6245	0.84952	1.0:0.0:0.0:0.0	.	828;993	G5E9V4;Q969F9	.;HPS3_HUMAN	C	993;828	ENSP00000296051:Y993C;ENSP00000418230:Y828C	ENSP00000296051:Y993C	Y	+	2	0	HPS3	150372662	1.000000	0.71417	0.948000	0.38648	0.923000	0.55619	7.685000	0.84117	2.323000	0.78572	0.528000	0.53228	TAT		0.343	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		44	57	0	0	0	0.853193	0	44	57				
SYT5	6861	broad.mit.edu	37	19	55686277	55686277	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:55686277T>C	ENST00000354308.3	-	7	1168	c.799A>G	c.(799-801)Aag>Gag	p.K267E	SYT5_ENST00000590851.1_Missense_Mutation_p.K263E|SYT5_ENST00000537500.1_Missense_Mutation_p.K267E|SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	267	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCATCTTCTTCAGGTTTTTA	0.582																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(799-801)Aag>Gag		synaptotagmin V							129.0	122.0	124.0					19																	55686277		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55686277T>C	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.799A>G	19.37:g.55686277T>C	ENSP00000346265:p.Lys267Glu					CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.K267E|SYT5_ENST00000590851.1_Missense_Mutation_p.K263E	p.K267E	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1168	-			267			C2 2.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.799A>G	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501379	0.85176	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.69806	-0.43;-0.43	3.98	2.96	0.34315	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	M	0.76002	2.32	0.48395	D	0.999649	P;D;P	0.58620	0.955;0.983;0.912	P;P;P	0.56163	0.793;0.693;0.704	T	0.76069	-0.3094	10	0.87932	D	0	.	8.2642	0.31804	0.0:0.1022:0.0:0.8978	.	263;266;267	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	E	267;267;263	ENSP00000442896:K267E;ENSP00000346265:K267E	ENSP00000346265:K267E	K	-	1	0	SYT5	60378089	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.112000	0.71547	1.765000	0.52091	0.254000	0.18369	AAG		0.582	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		58	93	0	0	0	0.870114	0	58	93				
WDFY3	23001	broad.mit.edu	37	4	85731060	85731060	+	Silent	SNP	T	T	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr4:85731060T>A	ENST00000295888.4	-	14	2732	c.2325A>T	c.(2323-2325)gtA>gtT	p.V775V	WDFY3_ENST00000322366.6_Silent_p.V775V|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	775					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCTGTGGCTACTTTGTAAA	0.363																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2323-2325)gtA>gtT		WD repeat and FYVE domain containing 3							75.0	76.0	75.0					4																	85731060		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731060T>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2325A>T	4.37:g.85731060T>A						WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Silent_p.V775V	p.V775V			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2732	-		Hepatocellular(203;0.114)	775					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.2325A>T	CCDS3609.1																																																																																				0.363	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		29	75	0	0	0	0.740014	0	29	75				
USP34	9736	broad.mit.edu	37	2	61597672	61597672	+	Silent	SNP	A	A	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:61597672A>G	ENST00000398571.2	-	9	1195	c.1119T>C	c.(1117-1119)aaT>aaC	p.N373N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	373					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GCTCCACCACATTGTTGCTAA	0.303																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(1117-1119)aaT>aaC		ubiquitin specific peptidase 34							90.0	84.0	86.0					2																	61597672		1840	4091	5931	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61597672A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1119T>C	2.37:g.61597672A>G							p.N373N	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		9	1195	-			373					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.1119T>C	CCDS42686.1																																																																																				0.303	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			29	86	0	0	0	0.788014	0	29	86				
DISP2	85455	broad.mit.edu	37	15	40659622	40659622	+	Missense_Mutation	SNP	C	C	A	rs566140400		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr15:40659622C>A	ENST00000267889.3	+	8	1396	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	437					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAAGTACAGCCTGCTCTTCCT	0.582																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(1309-1311)Ctg>Atg		dispatched homolog 2 (Drosophila)							240.0	262.0	255.0					15																	40659622		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40659622C>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1309C>A	15.37:g.40659622C>A	ENSP00000267889:p.Leu437Met						p.L437M	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	1396	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	437					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.1309C>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	5.619	0.298935	0.10622	.	.	ENSG00000140323	ENST00000267889	T	0.11930	2.73	4.71	1.83	0.25207	.	0.071535	0.56097	D	0.000028	T	0.14570	0.0352	N	0.16233	0.39	0.45718	D	0.998626	D	0.89917	1.0	D	0.79108	0.992	T	0.17228	-1.0376	10	0.07482	T	0.82	-10.5394	8.0741	0.30706	0.0:0.6064:0.0:0.3936	.	437	A7MBM2	DISP2_HUMAN	M	437	ENSP00000267889:L437M	ENSP00000267889:L437M	L	+	1	2	DISP2	38446914	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.533000	0.23082	0.232000	0.21100	-0.224000	0.12420	CTG		0.582	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		148	595	1	0	8.23634e-74	0.870114	9.79625e-74	148	595				
PDE3A	5139	broad.mit.edu	37	12	20833104	20833104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr12:20833104C>T	ENST00000359062.3	+	16	3365	c.3325C>T	c.(3325-3327)Cag>Tag	p.Q1109*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1109					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCAGACCCCTCAGTCGCACTC	0.488																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3325-3327)Cag>Tag		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						104.0	103.0	103.0					12																	20833104		2203	4300	6503	SO:0001587	stop_gained	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833104C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3325C>T	12.37:g.20833104C>T	ENSP00000351957:p.Gln1109*					PDE3A_ENST00000544307.1_3'UTR	p.Q1109*	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3365	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1109					O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	c.3325C>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177603	0.78564	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.72	4.8	0.61643	.	3.510010	0.00357	N	0.000021	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	10.3919	0.44175	0.1352:0.7951:0.0:0.0696	.	.	.	.	X	1109	.	ENSP00000351957:Q1109X	Q	+	1	0	PDE3A	20724371	0.000000	0.05858	0.027000	0.17364	0.009000	0.06853	0.623000	0.24447	2.695000	0.91970	0.655000	0.94253	CAG		0.488	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			39	119	0	0	0	0.827153	0	39	119				
ROR1	4919	broad.mit.edu	37	1	64515514	64515514	+	Silent	SNP	C	C	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:64515514C>T	ENST00000371079.1	+	3	690	c.315C>T	c.(313-315)ctC>ctT	p.L105L	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Silent_p.L105L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	105	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCCGGAGGCTCTCCTTTCGGT	0.572																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(313-315)ctC>ctT		receptor tyrosine kinase-like orphan receptor 1							113.0	116.0	115.0					1																	64515514		2203	4300	6503	SO:0001819	synonymous_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64515514C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.315C>T	1.37:g.64515514C>T						ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Silent_p.L105L	p.L105L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			3	690	+			105			Ig-like C2-type.		Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	c.315C>T	CCDS626.1																																																																																				0.572	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		55	181	0	0	0	0.870114	0	55	181				
NCKAP5	344148	broad.mit.edu	37	2	133540069	133540069	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr2:133540069T>C	ENST00000409261.1	-	14	4688	c.4315A>G	c.(4315-4317)Aca>Gca	p.T1439A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1439A|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1439										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTACTGCTTGTTTCAAAAGTG	0.572																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(4315-4317)Aca>Gca		NCK-associated protein 5							48.0	48.0	48.0					2																	133540069		1940	4129	6069	SO:0001583	missense	344148						protein binding	g.chr2:133540069T>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4315A>G	2.37:g.133540069T>C	ENSP00000387128:p.Thr1439Ala					NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1439A|NCKAP5_ENST00000409213.1_Intron	p.T1439A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4688	-			1439					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4315A>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	T	3.523	-0.097426	0.07010	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09163	3.01;3.01	5.5	0.365	0.16131	.	0.625343	0.13026	N	0.419706	T	0.04318	0.0119	N	0.12746	0.255	0.24306	N	0.995104	B	0.14438	0.01	B	0.11329	0.006	T	0.45381	-0.9265	10	0.10377	T	0.69	.	3.9349	0.09301	0.0:0.2387:0.3821:0.3792	.	1439	O14513	NCKP5_HUMAN	A	1439	ENSP00000387128:T1439A;ENSP00000380603:T1439A	ENSP00000380603:T1439A	T	-	1	0	NCKAP5	133256539	0.147000	0.22687	0.999000	0.59377	0.793000	0.44817	0.444000	0.21661	0.506000	0.28125	0.533000	0.62120	ACA		0.572	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		25	63	0	0	0	0.654019	0	25	63				
ZNF644	84146	broad.mit.edu	37	1	91403466	91403473	+	Frame_Shift_Del	DEL	TTTTTCTT	TTTTTCTT	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:91403466_91403473delTTTTTCTT	ENST00000370440.1	-	4	3474_3481	c.3257_3264delAAGAAAAA	c.(3256-3264)gaagaaaaafs	p.EEK1086fs	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Del_p.EEK1086fs|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1086					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTTTCATATTTTTCTTCATTTTGCAT	0.346																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3256-3264)gfs		zinc finger protein 644																																				SO:0001589	frameshift_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91403466_91403473delTTTTTCTT	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3257_3264delAAGAAAAA	1.37:g.91403466_91403473delTTTTTCTT	ENSP00000359469:p.Glu1086fs					ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Del_p.EEK1086fs	p.EEK1086fs			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	4	3474_3481	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1086					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Del	DEL	ENST00000370440.1	37	c.3257_3264delAAGAAAAA	CCDS731.1																																																																																				0.346	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		59	254						59	254	---	---	---	---
TRIM17	51127	broad.mit.edu	37	1	228596778	228596779	+	Intron	INS	-	-	C	rs199722854|rs199946126	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr1:228596778_228596779insC	ENST00000366697.2	-	5	1840				TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.G326fs|TRIM17_ENST00000366698.2_Intron|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000284551.6_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17						protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S327fs*8(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CACTTGTAGAACCCCCCCCATT	0.569													?|CCCCCCCC|CCCCCCCCC|unsure	27	0.00539137	0.0136	0.0029	5008	,	,		14347	0.005		0.0	False		,,,				2504	0.002					ENST00000456946.2																			1	Insertion - Frameshift(1)	p.S327fs*8(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(976-978)gtcfs		tripartite motif containing 17																																				SO:0001627	intron_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596778_228596779insC	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.883+93->G	1.37:g.228596786_228596786dupC						TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron	p.V326fs	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN			6	1352_1353	-		Prostate(94;0.0724)	0			B30.2/SPRY.		B4DVJ2|Q5VST8	Frame_Shift_Ins	INS	ENST00000366697.2	37	c.977_978insG	CCDS1571.1																																																																																				0.569	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		16	57						16	57	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48685381	48685382	+	Frame_Shift_Ins	INS	-	-	G	rs574354699	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr3:48685381_48685382insG	ENST00000164024.4	-	20	7301_7302	c.7021_7022insC	c.(7021-7023)cgtfs	p.R2341fs	CELSR3_ENST00000544264.1_Frame_Shift_Ins_p.R2346fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2341					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGTAGCGACGGGCCCCCCGG	0.629																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7036-7038)tcgfs		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685381_48685382insG	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7022dupC	3.37:g.48685384_48685384dupG	ENSP00000164024:p.Arg2341fs					CELSR3_ENST00000164024.4_Frame_Shift_Ins_p.S2341fs	p.S2346fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7316_7317	-			2341					O75092	Frame_Shift_Ins	INS	ENST00000164024.4	37	c.7036_7037insC	CCDS2775.1																																																																																				0.629	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	232						7	232	---	---	---	---
LINC01010	154092	broad.mit.edu	37	6	134819231	134819231	+	lincRNA	DEL	T	T	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr6:134819231delT	ENST00000431422.1	+	0	275				RP11-557H15.3_ENST00000417483.1_lincRNA	NR_038217.1|NR_038218.1				long intergenic non-protein coding RNA 1010																		Ccctttcttctttccttcctt	0.358																																						ENST00000431422.1																			0																																																			154092							g.chr6:134819231delT			6q23.2	2013-07-24			ENSG00000236700	ENSG00000236700		"""Long non-coding RNAs"""	48978	non-coding RNA	RNA, long non-coding							Standard	NR_038216		Approved				OTTHUMG00000015616		6.37:g.134819231delT						RP11-557H15.3_ENST00000417483.1_lincRNA		NR_038217.1|NR_038218.1						0	275	+									RNA	DEL	ENST00000431422.1	37																																																																																						0.358	LINC01010-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042322.1			2	4						2	4	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108112931	108112935	+	Frame_Shift_Del	DEL	CTTGA	CTTGA	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr7:108112931_108112935delCTTGA	ENST00000422087.1	-	12	2665_2669	c.2259_2263delTCAAG	c.(2257-2265)agtcaagaafs	p.SQE753fs	PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.SQE653fs|PNPLA8_ENST00000426128.2_Frame_Shift_Del_p.SQE691fs|PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.SQE691fs|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.SQE753fs	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	753					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GTTGTTTTTTCTTGACTTAATATTT	0.288																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(2071-2079)agaafs		patatin-like phospholipase domain containing 8																																				SO:0001589	frameshift_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108112931_108112935delCTTGA	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.2259_2263delTCAAG	7.37:g.108112931_108112935delCTTGA	ENSP00000410804:p.Ser753fs					PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.SQE653fs|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000422087.1_Frame_Shift_Del_p.SQE753fs|PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.SQE691fs	p.SQE691fs	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			10	2198_2202	-			753					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Frame_Shift_Del	DEL	ENST00000422087.1	37	c.2073_2077delTCAAG	CCDS34733.1																																																																																				0.288	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		10	59						10	59	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24831690	24831691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:24831690_24831691insT	ENST00000376454.3	+	18	3633_3634	c.3603_3604insT	c.(3604-3606)ttcfs	p.F1202fs	KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.F885fs|KIAA1217_ENST00000376451.2_Frame_Shift_Ins_p.F885fs|KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.F1166fs|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1202					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCAAATGGAATTCCAAAAGGT	0.426																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2650-2655)gatccafs		KIAA1217																																				SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24831690_24831691insT	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3605dupT	10.37:g.24831692_24831692dupT	ENSP00000365637:p.Phe1202fs					KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.P885fs|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.P1166fs|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1202fs	p.P885fs			Q5T5P2	SKT_HUMAN			13	2912_2913	+			1202					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Ins	INS	ENST00000376454.3	37	c.2652_2653insT	CCDS31165.1																																																																																				0.426	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		22	44						22	44	---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27459203	27459208	+	In_Frame_Del	DEL	GGGAAA	GGGAAA	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr10:27459203_27459208delGGGAAA	ENST00000375940.4	+	8	1372_1377	c.1315_1320delGGGAAA	c.(1315-1320)gggaaadel	p.GK439del	MASTL_ENST00000375946.4_In_Frame_Del_p.GK439del|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_In_Frame_Del_p.GK439del			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGCACCTTGGGAAAAGAAGTTTAA	0.34																																						ENST00000375946.4																			0				breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1315-1320)del		microtubule associated serine/threonine kinase-like																																				SO:0001651	inframe_deletion	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459203_27459208delGGGAAA	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1315_1320delGGGAAA	10.37:g.27459203_27459208delGGGAAA	ENSP00000365107:p.Gly439_Lys440del					MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_In_Frame_Del_p.GK439del|MASTL_ENST00000375940.4_In_Frame_Del_p.GK439del	p.GK439del	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN			8	1918_1923	+			439			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	In_Frame_Del	DEL	ENST00000375940.4	37	c.1315_1320delGGGAAA	CCDS53502.1																																																																																				0.340	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844		13	105						13	105	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85627150	85627150	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:85627150delT	ENST00000342404.3	+	10	1170	c.954delT	c.(952-954)catfs	p.H318fs	CCDC83_ENST00000376067.1_Frame_Shift_Del_p.H218fs|RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000280245.4_Frame_Shift_Del_p.H349fs			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	318										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTATCTTACATCTTAGTCATG	0.383																																						ENST00000280245.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29						c.(1045-1047)cafs		coiled-coil domain containing 83							128.0	128.0	128.0					11																	85627150		2203	4299	6502	SO:0001589	frameshift_variant	220047							g.chr11:85627150delT	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.954delT	11.37:g.85627150delT	ENSP00000344512:p.His318fs					CCDC83_ENST00000376067.1_Frame_Shift_Del_p.H218fs|CCDC83_ENST00000342404.3_Frame_Shift_Del_p.H318fs	p.H349fs	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN			11	1559	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	318					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Frame_Shift_Del	DEL	ENST00000342404.3	37	c.1047delT																																																																																					0.383	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		61	111						61	111	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111571666	111571667	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr11:111571666_111571667insG	ENST00000304987.3	+	5	708_709	c.535_536insG	c.(535-537)agcfs	p.S179fs		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ATGGTGTGGCAGCCCCCCTTAT	0.431																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(535-537)cccfs		salt-inducible kinase 2																																				SO:0001589	frameshift_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111571666_111571667insG	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.536dupG	11.37:g.111571667_111571667dupG	ENSP00000305976:p.Ser179fs						p.P179fs	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			5	708_709	+			179			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Frame_Shift_Ins	INS	ENST00000304987.3	37	c.535_536insG	CCDS8347.1																																																																																				0.431	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		20	76						20	76	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33331461	33331462	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:33331461_33331462insGC	ENST00000378526.4	+	20	3099_3100	c.2966_2967insGC	c.(2965-2970)cagcagfs	p.Q990fs	RP5-837J1.2_ENST00000578488.1_RNA|RFFL_ENST00000580569.1_5'Flank	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	990	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCTGCGGCCCAGCAGGTCTCCC	0.569								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(2965-2967)ccafs	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)																																			SO:0001589	frameshift_variant	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33331461_33331462insGC		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2967_2968dupGC	17.37:g.33331462_33331463dupGC	ENSP00000367787:p.Gln990fs						p.P989fs	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			20	3099_3100	+		Ovarian(249;0.17)	989			BRCT.		Q16714|Q6NVK3	Frame_Shift_Ins	INS	ENST00000378526.4	37	c.2966_2967insGC	CCDS11284.2																																																																																				0.569	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		32	203						32	203	---	---	---	---
PTRH2	51651	broad.mit.edu	37	17	57775075	57775076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:57775075_57775076insA	ENST00000470557.2	-	1	3710_3711	c.264_265insT	c.(262-267)catgctfs	p.A89fs	PTRH2_ENST00000393038.2_Frame_Shift_Ins_p.A89fs|PTRH2_ENST00000537860.1_Frame_Shift_Ins_p.A89fs|PTRH2_ENST00000579915.1_5'Flank|PTRH2_ENST00000409433.2_Frame_Shift_Ins_p.A90fs			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	89					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAACAGCAGCATGAGAGCACT	0.475																																						ENST00000470557.2																			0				large_intestine(1)	1						c.(262-267)cactgcfs		peptidyl-tRNA hydrolase 2																																				SO:0001589	frameshift_variant	51651				apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity	g.chr17:57775075_57775076insA	AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"""Bcl-2 inhibitor of transcription"", ""cilia and flagella associated protein 37"""	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.265dupT	17.37:g.57775076_57775076dupA	ENSP00000464327:p.Ala89fs					PTRH2_ENST00000537860.1_Frame_Shift_Ins_p.C89fs|PTRH2_ENST00000409433.2_Frame_Shift_Ins_p.C90fs|PTRH2_ENST00000393038.2_Frame_Shift_Ins_p.C89fs	p.C89fs			Q9Y3E5	PTH2_HUMAN			1	3710_3711	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		89					B3KUY4|Q9NTE5	Frame_Shift_Ins	INS	ENST00000470557.2	37	c.264_265insT	CCDS11618.1																																																																																				0.475	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077		68	243						68	243	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60345216	60345217	+	RNA	INS	-	-	T			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr17:60345216_60345217insT	ENST00000581291.1	-	0	846									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						ATGCAGAACACTGGGCGGTGTC	0.619																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60345216_60345217insT			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60345217_60345217dupT														0	846	-									RNA	INS	ENST00000581291.1	37																																																																																						0.619	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		14	44						14	44	---	---	---	---
SF3A2	8175	broad.mit.edu	37	19	2248165	2248185	+	In_Frame_Del	DEL	CCAGCCCCCGGGGTTCACCCA	CCAGCCCCCGGGGTTCACCCA	-	rs144349304|rs138163109		TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA	ENST00000221494.5	+	9	1433_1453	c.1015_1035delCCAGCCCCCGGGGTTCACCCA	c.(1015-1035)ccagcccccggggttcacccadel	p.PAPGVHP360del	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	360	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCACCCTCCAGCCCCCGGGGTTCACCCACCAGCCCCCG	0.742																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1015-1035)del		splicing factor 3a, subunit 2, 66kDa				62,2436		14,34,1201						-6.4	0.0			3	497,5077		113,271,2403	no	coding	SF3A2	NM_007165.4		127,305,3604	A1A1,A1R,RR		8.9164,2.482,6.9252				559,7513				SO:0001651	inframe_deletion	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248165_2248185delCCAGCCCCCGGGGTTCACCCA	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1015_1035delCCAGCCCCCGGGGTTCACCCA	19.37:g.2248165_2248185delCCAGCCCCCGGGGTTCACCCA	ENSP00000221494:p.Pro360_Pro366del						p.PAPGVHP360del	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1433_1453	+		Hepatocellular(1079;0.137)	360			Pro-rich.		B2RBU1|D6W605|O75245	In_Frame_Del	DEL	ENST00000221494.5	37	c.1015_1035delCCAGCCCCCGGGGTTCACCCA	CCDS12084.1																																																																																				0.742	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			4	9						4	9	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2341094	2341102	+	RNA	DEL	CTCCCTGGA	CTCCCTGGA	-	rs77642174|rs76166147|rs202164106|rs386805838|rs547300749	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr19:2341094_2341102delCTCCCTGGA	ENST00000452401.2	+	0	1033							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCCTGCCCTCCCTGGAGGCCGCCCCA	0.703																																						ENST00000452401.2																			0													signal peptide peptidase like 2B																																						56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2341094_2341102delCTCCCTGGA		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2341094_2341102delCTCCCTGGA						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1033	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	DEL	ENST00000452401.2	37																																																																																						0.703	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		4	3						4	3	---	---	---	---
SLC2A4RG	56731	broad.mit.edu	37	20	62372799	62372801	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr20:62372799_62372801delCTT	ENST00000266077.2	+	3	410_412	c.358_360delCTT	c.(358-360)cttdel	p.L121del	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	121				SPLLL -> KPSPS (in Ref. 1; AAF97516). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L120F(1)		NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGCCCTCTCCTTCTGGGGGCCC	0.65																																						ENST00000266077.2																			1	Substitution - Missense(1)	p.L120F(1)	skin(1)	NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7						c.(358-360)del		SLC2A4 regulator																																				SO:0001651	inframe_deletion	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62372799_62372801delCTT	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.358_360delCTT	20.37:g.62372799_62372801delCTT	ENSP00000266077:p.Leu121del					SLC2A4RG_ENST00000493772.1_3'UTR	p.L121del	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN			3	410_412	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		121	SPLLL -> KPSPS (in Ref. 1; AAF97516).				Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	In_Frame_Del	DEL	ENST00000266077.2	37	c.358_360delCTT	CCDS13537.1																																																																																				0.650	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		9	86						9	86	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885754	29885777	+	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGAAGAAGCA	AAGTCCCCAGTGAAGGAAGAAGCA	-	rs139600064|rs531060059	byFrequency	TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chr22:29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA	ENST00000310624.6	+	4	2158_2181	c.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	c.(2125-2148)aagtccccagtgaaggaagaagcadel	p.KSPVKEEA709del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	715	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E715K(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTG	0.562																																						ENST00000310624.6																			1	Substitution - Missense(1)	p.E715K(1)	skin(1)	cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2125-2148)del		neurofilament, heavy polypeptide																																				SO:0001651	inframe_deletion	4744				cell death|nervous system development	neurofilament		g.chr22:29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	22.37:g.29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA	ENSP00000311997:p.Lys709_Ala716del						p.KSPVKEEA709del	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2158_2181	+			715			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	c.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		8	266						8	266	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153599568	153599569	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-CN-5361-01A-01D-1434-08	TCGA-CN-5361-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5eea0205-e539-48de-b94c-4bb68c74ec96	27a64fa5-cf94-4e91-b746-7ea70c6d3264	g.chrX:153599568_153599569insCG	ENST00000369850.3	-	2	281_282	c.45_46insCG	c.(43-48)gcggctfs	p.A16fs	FLNA_ENST00000422373.1_Frame_Shift_Ins_p.A16fs|FLNA_ENST00000344736.4_Frame_Shift_Ins_p.A16fs|FLNA_ENST00000360319.4_Frame_Shift_Ins_p.A16fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	16	Actin-binding.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCCGGAGCCGCGCCTGCTG	0.718																																						ENST00000422373.1																			0				breast(6)	6						c.(43-48)gcctccfs		filamin A, alpha																																				SO:0001589	frameshift_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153599568_153599569insCG	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.44_45dupCG	X.37:g.153599571_153599572dupCG	ENSP00000358866:p.Ala16fs					FLNA_ENST00000369850.3_Frame_Shift_Ins_p.S16fs|FLNA_ENST00000360319.4_Frame_Shift_Ins_p.S16fs|FLNA_ENST00000344736.4_Frame_Shift_Ins_p.S16fs	p.S16fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			2	293_294	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		16			Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Ins	INS	ENST00000369850.3	37	c.45_46insCG	CCDS48194.1																																																																																				0.718	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			8	8						8	8	---	---	---	---
