#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
IQGAP1	8826	broad.mit.edu	37	15	91030268	91030268	+	Silent	SNP	C	C	T	rs368968167		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:91030268C>T	ENST00000268182.5	+	32	4231	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	IQGAP1_ENST00000560738.1_Silent_p.F797F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1369	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCAACAAGTTCGACGTGCCTG	0.443																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4105-4107)ttC>ttT		IQ motif containing GTPase activating protein 1							121.0	106.0	111.0					15																	91030268		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91030268C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4107C>T	15.37:g.91030268C>T						IQGAP1_ENST00000560738.1_Silent_p.F797F	p.F1369F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		32	4231	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1369			C2.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.4107C>T	CCDS10362.1																																																																																				0.443	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		15	76	0	0	0	1	0	15	76				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	86	0	0	0	1	0	4	86				
FAM118A	55007	broad.mit.edu	37	22	45728404	45728404	+	Silent	SNP	C	C	T	rs377185744		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:45728404C>T	ENST00000216214.3	+	7	1584	c.750C>T	c.(748-750)tcC>tcT	p.S250S	FAM118A_ENST00000441876.2_Silent_p.S250S|FAM118A_ENST00000405548.3_Silent_p.S68S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	250						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTCTTTACTCCGTGCCGAATA	0.478																																						ENST00000216214.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(748-750)tcC>tcT		family with sequence similarity 118, member A		C	,	0,4406		0,0,2203	114.0	116.0	115.0		750,750	-11.5	0.1	22		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FAM118A	NM_001104595.1,NM_017911.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	250/358,250/358	45728404	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55007					integral to membrane		g.chr22:45728404C>T	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.750C>T	22.37:g.45728404C>T						FAM118A_ENST00000441876.2_Silent_p.S250S|FAM118A_ENST00000405548.3_Silent_p.S68S	p.S250S	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	7	1584	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	250					B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	c.750C>T	CCDS14065.1																																																																																				0.478	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		26	121	0	0	0	1	0	26	121				
PNMAL1	55228	broad.mit.edu	37	19	46973192	46973192	+	Silent	SNP	C	C	T	rs149866283	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:46973192C>T	ENST00000313683.10	-	2	1406	c.1101G>A	c.(1099-1101)gtG>gtA	p.V367V	PNMAL1_ENST00000438932.2_Intron|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	367										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGCCCAAGCTCACCTTCTTCT	0.562													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17341	0.0		0.0	False		,,,				2504	0.0					ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1099-1101)gtG>gtA		paraneoplastic Ma antigen family-like 1		C	,	14,4392	22.3+/-47.3	0,14,2189	119.0	124.0	123.0		,1101	2.6	1.0	19	dbSNP_134	123	0,8600		0,0,4300	no	intron,coding-synonymous	PNMAL1	NM_001103149.1,NM_018215.3	,	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	,	,367/440	46973192	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	55228							g.chr19:46973192C>T	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1101G>A	19.37:g.46973192C>T						PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Intron	p.V367V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1406	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	367					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	c.1101G>A	CCDS33059.1																																																																																				0.562	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		33	195	0	0	0	1	0	33	195				
EFCAB7	84455	broad.mit.edu	37	1	64017452	64017452	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:64017452G>A	ENST00000371088.4	+	8	1249	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	335							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGGAAAATGAGAGTCAAGC	0.308																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1003-1005)Gag>Aag		EF-hand calcium binding domain 7							78.0	75.0	76.0					1																	64017452		2203	4299	6502	SO:0001583	missense	84455						calcium ion binding	g.chr1:64017452G>A	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1003G>A	1.37:g.64017452G>A	ENSP00000360129:p.Glu335Lys						p.E335K	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			8	1249	+			335					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.1003G>A	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912825	0.92178	.	.	ENSG00000203965	ENST00000371088	T	0.43294	0.95	5.21	5.21	0.72293	.	0.093833	0.64402	D	0.000001	T	0.40791	0.1131	M	0.64997	1.995	0.80722	D	1	P	0.52463	0.953	P	0.47744	0.556	T	0.25916	-1.0118	10	0.40728	T	0.16	-16.7575	18.7161	0.91677	0.0:0.0:1.0:0.0	.	335	A8K855	EFCB7_HUMAN	K	335	ENSP00000360129:E335K	ENSP00000360129:E335K	E	+	1	0	EFCAB7	63790040	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	8.087000	0.89521	2.575000	0.86900	0.557000	0.71058	GAG		0.308	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		5	32	0	0	0	1	0	5	32				
MDP1	145553	broad.mit.edu	37	14	24683559	24683559	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:24683559G>C	ENST00000288087.7	-	5	471	c.360C>G	c.(358-360)ttC>ttG	p.F120L	MDP1_ENST00000396833.2_Intron|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.F137L|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|MDP1_ENST00000532557.1_Intron|CHMP4A_ENST00000609024.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	120						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.F120L(1)		breast(2)|large_intestine(2)|lung(3)	7						CATCATCAAAGAAGATCATCT	0.478																																						ENST00000288087.7																			1	Substitution - Missense(1)	p.F120L(1)	large_intestine(1)	breast(2)|large_intestine(2)|lung(3)	7						c.(358-360)ttC>ttG		magnesium-dependent phosphatase 1							137.0	130.0	132.0					14																	24683559		2203	4300	6503	SO:0001583	missense	145553							g.chr14:24683559G>C	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.360C>G	14.37:g.24683559G>C	ENSP00000288087:p.Phe120Leu					MDP1_ENST00000532557.1_Intron|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.F137L|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Intron	p.F120L	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					5	471	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.360C>G	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698269	0.88830	.	.	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97620	-4.46;-4.46	5.0	5.0	0.66597	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	0.000000	0.31438	U	0.007650	D	0.97870	0.9300	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97715	1.0193	10	0.52906	T	0.07	-11.885	13.6713	0.62427	0.0:0.0:1.0:0.0	.	120	Q86V88	MGDP1_HUMAN	L	120;137	ENSP00000288087:F120L;ENSP00000431482:F137L	ENSP00000288087:F120L	F	-	3	2	MDP1;NEDD8-MDP1	23753399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.561000	0.53770	2.607000	0.88179	0.655000	0.94253	TTC		0.478	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		10	107	0	0	0	1	0	10	107				
S100A13	6284	broad.mit.edu	37	1	153598850	153598850	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:153598850G>A	ENST00000392623.1	-	2	289	c.99C>T	c.(97-99)ctC>ctT	p.L33L	S100A13_ENST00000392622.1_Silent_p.L33L|S100A1_ENST00000292169.1_5'Flank|S100A1_ENST00000368698.3_5'Flank|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Silent_p.L33L|S100A1_ENST00000368696.3_5'Flank|S100A13_ENST00000368699.1_Silent_p.L33L|S100A13_ENST00000440685.2_Silent_p.L33L|RP1-178F15.5_ENST00000497086.1_RNA	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	33	EF-hand.				cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	CGTTGACGCTGAGGCTATCCT	0.522																																					NSCLC(156;1296 1989 17590 30930 49554)	ENST00000368699.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7						c.(97-99)ctC>ctT		S100 calcium binding protein A13	Amlexanox(DB01025)						213.0	201.0	205.0					1																	153598850		2203	4300	6503	SO:0001819	synonymous_variant	6284				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	g.chr1:153598850G>A	AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171		"""S100 calcium binding proteins"""	10490	protein-coding gene	gene with protein product		601989	"""S100 calcium-binding protein A13"""			8985590	Standard	XM_005245434		Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.99C>T	1.37:g.153598850G>A						S100A13_ENST00000440685.2_Silent_p.L33L|S100A13_ENST00000392623.1_Silent_p.L33L|S100A13_ENST00000392622.1_Silent_p.L33L|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000339556.4_Silent_p.L33L	p.L33L	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	602	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		33			EF-hand 1.		Q52PI9|Q6FGF8	Silent	SNP	ENST00000392623.1	37	c.99C>T	CCDS30874.1																																																																																				0.522	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	NM_005979		33	184	0	0	0	1	0	33	184				
DSPP	1834	broad.mit.edu	37	4	88534236	88534236	+	Missense_Mutation	SNP	G	G	A	rs386677003		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:88534236G>A	ENST00000282478.7	+	3	931	c.898G>A	c.(898-900)Gat>Aat	p.D300N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D300N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	300					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TCAAAATTCAGATAGTAAAGA	0.433																																						ENST00000399271.1																			0				breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(898-900)Gat>Aat		dentin sialophosphoprotein							84.0	88.0	87.0					4																	88534236		1928	4121	6049	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88534236G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.898G>A	4.37:g.88534236G>A	ENSP00000282478:p.Asp300Asn					DSPP_ENST00000282478.7_Missense_Mutation_p.D300N|RP11-742B18.1_ENST00000506480.1_RNA	p.D300N	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	4	1018	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	300					A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.898G>A	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	8.943	0.966364	0.18659	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.86956	-2.19;-2.19	4.74	0.504	0.16946	.	.	.	.	.	T	0.79293	0.4421	L	0.36672	1.1	0.09310	N	1	B	0.16802	0.019	B	0.21546	0.035	T	0.63391	-0.6648	9	0.30854	T	0.27	0.3176	7.7765	0.29041	0.6259:0.0:0.3741:0.0	.	300	Q9NZW4	DSPP_HUMAN	N	300	ENSP00000382213:D300N;ENSP00000282478:D300N	ENSP00000282478:D300N	D	+	1	0	DSPP	88753260	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.785000	0.04628	-0.051000	0.13334	-0.484000	0.04775	GAT		0.433	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		7	46	0	0	0	1	0	7	46				
MFAP1	4236	broad.mit.edu	37	15	44107241	44107241	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:44107241C>T	ENST00000267812.3	-	3	563	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	111					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CCTACCACTTCAGGTTCCACT	0.423																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(331-333)Gaa>Aaa		microfibrillar-associated protein 1							204.0	182.0	189.0					15																	44107241		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44107241C>T		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.331G>A	15.37:g.44107241C>T	ENSP00000267812:p.Glu111Lys						p.E111K	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	3	563	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	111					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.331G>A	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836200	0.91117	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	M	0.69823	2.125	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.77349	-0.2621	9	0.54805	T	0.06	-17.1014	19.9576	0.97228	0.0:1.0:0.0:0.0	.	111	P55081	MFAP1_HUMAN	K	111	.	ENSP00000267812:E111K	E	-	1	0	MFAP1	41894533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.129000	0.77225	2.884000	0.98904	0.655000	0.94253	GAA		0.423	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		20	99	0	0	0	1	0	20	99				
ACSL5	51703	broad.mit.edu	37	10	114177678	114177678	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:114177678C>T	ENST00000393081.1	+	14	1600	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	ACSL5_ENST00000354273.4_Silent_p.F431F|ACSL5_ENST00000354655.4_Silent_p.F431F|ACSL5_ENST00000433418.1_Silent_p.F431F|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Silent_p.F213F|ACSL5_ENST00000356116.1_Silent_p.F487F	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	431					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGACATTCTTCCGGGCAGCAA	0.453																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(1291-1293)ttC>ttT		acyl-CoA synthetase long-chain family member 5							134.0	119.0	124.0					10																	114177678		2203	4300	6503	SO:0001819	synonymous_variant	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114177678C>T	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1293C>T	10.37:g.114177678C>T						ACSL5_ENST00000354273.4_Silent_p.F431F|ACSL5_ENST00000354655.4_Silent_p.F431F|ACSL5_ENST00000356116.1_Silent_p.F487F|ACSL5_ENST00000433418.1_Silent_p.F431F|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Silent_p.F213F	p.F431F	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	14	1600	+		Colorectal(252;0.117)|Breast(234;0.222)	431					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Silent	SNP	ENST00000393081.1	37	c.1293C>T	CCDS7573.1																																																																																				0.453	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		9	63	0	0	0	1	0	9	63				
SLC7A1	6541	broad.mit.edu	37	13	30110249	30110249	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:30110249G>A	ENST00000380752.5	-	3	463	c.77C>T	c.(76-78)aCg>aTg	p.T26M		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	26					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGACAGCCGCGTCTCCTCCCG	0.607																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(76-78)aCg>aTg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						56.0	60.0	58.0					13																	30110249		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30110249G>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.77C>T	13.37:g.30110249G>A	ENSP00000370128:p.Thr26Met						p.T26M	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	3	463	-		Lung SC(185;0.0257)|Breast(139;0.238)	26					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.77C>T	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797744	0.31777	.	.	ENSG00000139514	ENST00000380752;ENST00000450494	D;D	0.88664	-2.24;-2.41	4.71	2.96	0.34315	.	0.158706	0.64402	D	0.000019	D	0.87993	0.6318	L	0.52126	1.63	0.26468	N	0.975333	D	0.53151	0.958	P	0.47744	0.556	T	0.81915	-0.0714	10	0.66056	D	0.02	.	13.949	0.64104	0.0:0.6957:0.3043:0.0	.	26	P30825	CTR1_HUMAN	M	26	ENSP00000370128:T26M;ENSP00000390092:T26M	ENSP00000370128:T26M	T	-	2	0	SLC7A1	29008249	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	3.436000	0.52856	0.576000	0.29452	-0.165000	0.13383	ACG		0.607	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		7	54	0	0	0	1	0	7	54				
TAF1B	9014	broad.mit.edu	37	2	10059238	10059238	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:10059238G>C	ENST00000263663.5	+	13	1528	c.1340G>C	c.(1339-1341)aGa>aCa	p.R447T	TAF1B_ENST00000396242.3_Missense_Mutation_p.R192T	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	447					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TATAAAAAAAGAGGTAAGTCA	0.338																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1339-1341)aGa>aCa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							75.0	78.0	77.0					2																	10059238		2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10059238G>C	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1340G>C	2.37:g.10059238G>C	ENSP00000263663:p.Arg447Thr					TAF1B_ENST00000396242.3_Missense_Mutation_p.R192T	p.R447T	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			13	1528	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		447					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.1340G>C	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434324	0.43224	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.55760	0.5;0.5	6.03	5.14	0.70334	.	0.126423	0.64402	D	0.000001	T	0.58466	0.2124	M	0.64997	1.995	0.41878	D	0.990307	D;D	0.56521	0.958;0.976	P;P	0.53360	0.477;0.724	T	0.58261	-0.7667	9	.	.	.	-37.2382	9.7102	0.40240	0.152:0.0:0.848:0.0	.	447;447	Q53T94;Q53T94-2	TAF1B_HUMAN;.	T	447;192	ENSP00000263663:R447T;ENSP00000379542:R192T	.	R	+	2	0	TAF1B	9976689	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	2.786000	0.47790	2.861000	0.98227	0.655000	0.94253	AGA		0.338	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		6	46	0	0	0	1	0	6	46				
IBTK	25998	broad.mit.edu	37	6	82900848	82900848	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:82900848T>A	ENST00000306270.7	-	25	4066	c.3517A>T	c.(3517-3519)Aat>Tat	p.N1173Y	IBTK_ENST00000510291.1_Missense_Mutation_p.N1158Y|IBTK_ENST00000503631.1_Missense_Mutation_p.N972Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1173					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCCATGCTATTCATTCCTGAA	0.328																																						ENST00000306270.7																			0				central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(3517-3519)Aat>Tat		inhibitor of Bruton agammaglobulinemia tyrosine kinase							115.0	107.0	110.0					6																	82900848		2202	4299	6501	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82900848T>A	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3517A>T	6.37:g.82900848T>A	ENSP00000305721:p.Asn1173Tyr					IBTK_ENST00000503631.1_Missense_Mutation_p.N972Y|IBTK_ENST00000510291.1_Missense_Mutation_p.N1158Y	p.N1173Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	25	4066	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	1173					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.3517A>T	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.738582	0.49045	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.31769	1.82;1.48;1.82	5.81	5.81	0.92471	.	0.505033	0.23189	N	0.050924	T	0.34048	0.0884	L	0.59436	1.845	0.09310	N	1	D;P;D;P	0.69078	0.997;0.856;0.989;0.856	P;B;P;B	0.56514	0.795;0.248;0.8;0.248	T	0.22661	-1.0210	10	0.62326	D	0.03	-18.8494	15.3482	0.74359	0.0:0.0:0.0:1.0	.	972;1158;124;1173	E9PDR5;E7EPI0;B3KX60;Q9P2D0	.;.;.;IBTK_HUMAN	Y	1173;972;1158	ENSP00000305721:N1173Y;ENSP00000422762:N972Y;ENSP00000426405:N1158Y	ENSP00000305721:N1173Y	N	-	1	0	IBTK	82957567	0.104000	0.21937	0.546000	0.28166	0.995000	0.86356	3.222000	0.51223	2.214000	0.71695	0.528000	0.53228	AAT		0.328	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		4	27	0	0	0	1	0	4	27				
HINFP	25988	broad.mit.edu	37	11	119003681	119003681	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:119003681C>T	ENST00000350777.2	+	8	1046	c.983C>T	c.(982-984)tCt>tTt	p.S328F	HINFP_ENST00000527410.1_Missense_Mutation_p.S328F	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	328					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCTCTGCTCTATCAAGTCC	0.532																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(982-984)tCt>tTt		histone H4 transcription factor							114.0	108.0	110.0					11																	119003681		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003681C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.983C>T	11.37:g.119003681C>T	ENSP00000318085:p.Ser328Phe					HINFP_ENST00000527410.1_Missense_Mutation_p.S328F	p.S328F	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			8	1046	+			328					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.983C>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031154	0.75504	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.10382	2.88;2.91	5.62	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.109437	0.64402	N	0.000006	T	0.28333	0.0700	L	0.58428	1.81	0.47737	D	0.999506	D	0.76494	0.999	D	0.66196	0.942	T	0.00538	-1.1682	10	0.56958	D	0.05	-18.3476	16.5632	0.84572	0.0:0.8699:0.13:0.0	.	328	Q9BQA5	HINFP_HUMAN	F	328	ENSP00000318085:S328F;ENSP00000436815:S328F	ENSP00000318085:S328F	S	+	2	0	HINFP	118508891	1.000000	0.71417	0.957000	0.39632	0.948000	0.59901	5.683000	0.68189	2.662000	0.90505	0.655000	0.94253	TCT		0.532	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		31	108	0	0	0	1	0	31	108				
FEZF1	389549	broad.mit.edu	37	7	121943740	121943740	+	Missense_Mutation	SNP	C	C	T	rs527670913	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:121943740C>T	ENST00000442488.2	-	1	819	c.752G>A	c.(751-753)gGc>gAc	p.G251D	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.G201D|FEZF1_ENST00000331178.4_Missense_Mutation_p.G251D	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	251					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATTAGGAGAGCCTCGGCTGAA	0.493																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(751-753)gGc>gAc		FEZ family zinc finger 1							123.0	135.0	131.0					7																	121943740		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943740C>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.752G>A	7.37:g.121943740C>T	ENSP00000411145:p.Gly251Asp					FEZF1_ENST00000427185.2_Missense_Mutation_p.G201D|FEZF1_ENST00000331178.4_Missense_Mutation_p.G251D|FEZF1-AS1_ENST00000428449.1_RNA	p.G251D	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	819	-			251					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.752G>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	c	12.29	1.894487	0.33442	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07908	3.15;3.33;3.21	4.66	3.75	0.43078	.	0.378347	0.29348	N	0.012418	T	0.05777	0.0151	L	0.29908	0.895	0.49213	D	0.999768	B;P	0.35908	0.151;0.527	B;B	0.32342	0.047;0.144	T	0.47114	-0.9142	10	0.27082	T	0.32	-2.063	9.0453	0.36343	0.1677:0.5714:0.2609:0.0	.	251;201	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	D	251;251;201	ENSP00000411145:G251D;ENSP00000332777:G251D;ENSP00000392727:G201D	ENSP00000332777:G251D	G	-	2	0	FEZF1	121730976	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.574000	0.46016	1.257000	0.44085	0.544000	0.68410	GGC		0.493	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		11	100	0	0	0	1	0	11	100				
LAMC1	3915	broad.mit.edu	37	1	182992966	182992966	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:182992966G>T	ENST00000258341.4	+	1	372	c.115G>T	c.(115-117)Gag>Tag	p.E39*		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	39					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AGCCATGGACGAGTGCACGGA	0.766																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(115-117)Gag>Tag		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						15.0	17.0	16.0					1																	182992966		2195	4292	6487	SO:0001587	stop_gained	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:182992966G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.115G>T	1.37:g.182992966G>T	ENSP00000258341:p.Glu39*						p.E39*	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			1	372	+			39					Q5VYE7	Nonsense_Mutation	SNP	ENST00000258341.4	37	c.115G>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	40	8.251133	0.98727	.	.	ENSG00000135862	ENST00000258341	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.8792	0.79189	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000258341:E39X	E	+	1	0	LAMC1	181259589	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	2.090000	0.41682	1.676000	0.50930	0.591000	0.81541	GAG		0.766	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		6	17	1	0	1.12685e-05	1	1.2197e-05	6	17				
ASCC3	10973	broad.mit.edu	37	6	101100668	101100668	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:101100668C>G	ENST00000369162.2	-	18	3265	c.2921G>C	c.(2920-2922)gGa>gCa	p.G974A		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	974					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAAAATATCCAGTTCGCTC	0.358																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(2920-2922)gGa>gCa		activating signal cointegrator 1 complex subunit 3							103.0	98.0	100.0					6																	101100668		2202	4300	6502	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101100668C>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2921G>C	6.37:g.101100668C>G	ENSP00000358159:p.Gly974Ala						p.G974A	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	18	3265	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	974					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.2921G>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075856	0.94000	.	.	ENSG00000112249	ENST00000369162	T	0.59638	0.25	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.77619	-0.2520	10	0.66056	D	0.02	.	20.1554	0.98111	0.0:1.0:0.0:0.0	.	974	Q8N3C0	HELC1_HUMAN	A	974	ENSP00000358159:G974A	ENSP00000358159:G974A	G	-	2	0	ASCC3	101207389	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.844000	0.62846	2.838000	0.97847	0.591000	0.81541	GGA		0.358	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		10	50	0	0	0	1	0	10	50				
MMAA	166785	broad.mit.edu	37	4	146563519	146563519	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:146563519G>T	ENST00000281317.5	+	3	1654	c.444G>T	c.(442-444)ttG>ttT	p.L148F	MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	148					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTAGGATTGTCTGGGCCCC	0.378																																						ENST00000281317.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(442-444)ttG>ttT		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						96.0	100.0	98.0					4																	146563519		2203	4300	6503	SO:0001583	missense	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146563519G>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.444G>T	4.37:g.146563519G>T	ENSP00000281317:p.Leu148Phe					RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	p.L148F	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			3	1654	+	all_hematologic(180;0.151)		148					B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	c.444G>T	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423197	0.62733	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.93307	-3.2	5.76	2.14	0.27477	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	L	0.51914	1.62	0.80722	D	1	P;P	0.48294	0.848;0.908	P;P	0.51777	0.679;0.679	D	0.90417	0.4414	10	0.56958	D	0.05	-41.6554	10.273	0.43493	0.3838:0.0:0.6162:0.0	.	148;148	Q8IVH4;D6RIS5	MMAA_HUMAN;.	F	148	ENSP00000281317:L148F	ENSP00000281317:L148F	L	+	3	2	MMAA	146782969	0.960000	0.32886	0.995000	0.50966	0.730000	0.41778	0.048000	0.14078	0.370000	0.24538	0.655000	0.94253	TTG		0.378	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			15	84	1	0	0.0242445	1	0.0244988	15	84				
PCDHB15	56121	broad.mit.edu	37	5	140626943	140626943	+	Silent	SNP	C	C	T	rs536732904	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:140626943C>T	ENST00000231173.3	+	1	1797	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.726													C|||	2	0.000399361	0.0	0.0	5008	,	,		14385	0.001		0.001	False		,,,				2504	0.0					ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1795-1797)aaC>aaT									11.0	14.0	13.0					5																	140626943		1922	3818	5740	SO:0001819	synonymous_variant	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626943C>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1797C>T	5.37:g.140626943C>T							p.N599N	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1797	+			599			Cadherin 6.		Q8IUX5	Silent	SNP	ENST00000231173.3	37	c.1797C>T	CCDS4257.1																																																																																				0.726	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		6	85	0	0	0	1	0	6	85				
STAC	6769	broad.mit.edu	37	3	36587704	36587704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:36587704G>T	ENST00000273183.3	+	11	1432	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*	STAC_ENST00000457375.2_Nonsense_Mutation_p.E317*	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	378					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTCTGAAGAAGAACAAGATGG	0.428																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(1132-1134)Gaa>Taa		SH3 and cysteine rich domain							133.0	120.0	124.0					3																	36587704		2203	4300	6503	SO:0001587	stop_gained	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36587704G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1132G>T	3.37:g.36587704G>T	ENSP00000273183:p.Glu378*					STAC_ENST00000457375.2_Nonsense_Mutation_p.E317*	p.E378*	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			11	1432	+			378					B2R8S8	Nonsense_Mutation	SNP	ENST00000273183.3	37	c.1132G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368120	0.95900	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687	.	.	.	5.17	5.17	0.71159	.	0.103133	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.8263	0.85933	0.0:0.0:1.0:0.0	.	.	.	.	X	378;317;310	.	ENSP00000273183:E378X	E	+	1	0	STAC	36562708	1.000000	0.71417	0.985000	0.45067	0.438000	0.31896	4.411000	0.59781	2.565000	0.86533	0.655000	0.94253	GAA		0.428	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		16	79	1	0	1.45105e-14	1	1.68415e-14	16	79				
ATP13A4	84239	broad.mit.edu	37	3	193185105	193185105	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:193185105C>A	ENST00000342695.4	-	10	1436	c.1114G>T	c.(1114-1116)Gga>Tga	p.G372*	ATP13A4_ENST00000295548.3_Splice_Site_p.G372*|ATP13A4_ENST00000392443.3_Splice_Site_p.G372*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	372						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGATGCTAACCAGTCTGCAGT	0.443																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.e10+1		ATPase type 13A4							70.0	66.0	68.0					3																	193185105		2203	4300	6503	SO:0001630	splice_region_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193185105C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1114+1G>T	3.37:g.193185105C>A						ATP13A4_ENST00000295548.3_Splice_Site_p.G372_splice|ATP13A4_ENST00000392443.3_Splice_Site_p.G372_splice	p.G372_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	10	1436	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		372					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Splice_Site	SNP	ENST00000342695.4	37	c.1114_splice	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	41	8.699397	0.98920	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	.	.	.	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.4301	19.848	0.96722	0.0:1.0:0.0:0.0	.	.	.	.	X	372	.	.	G	-	1	0	ATP13A4	194667799	1.000000	0.71417	0.975000	0.42487	0.586000	0.36452	7.438000	0.80431	2.937000	0.99478	0.650000	0.86243	GGA		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	Nonsense_Mutation	6	49	1	0	0.00116845	1	0.00119745	6	49				
EEF2	1938	broad.mit.edu	37	19	3983263	3983263	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:3983263G>A	ENST00000309311.6	-	3	333	c.245C>T	c.(244-246)tCg>tTg	p.S82L	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	82	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCATTCTCCGAGAGCTCGTA	0.587																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(244-246)tCg>tTg		eukaryotic translation elongation factor 2							106.0	97.0	100.0					19																	3983263		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3983263G>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.245C>T	19.37:g.3983263G>A	ENSP00000307940:p.Ser82Leu					EEF2_ENST00000600720.1_5'UTR	p.S82L	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	3	333	-		Hepatocellular(1079;0.137)	82					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.245C>T	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732170	0.30684	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.75154	-0.91	5.28	4.24	0.50183	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.275715	0.36555	N	0.002525	T	0.62889	0.2465	N	0.26042	0.785	0.19575	N	0.999965	B	0.18166	0.026	B	0.19946	0.027	T	0.56745	-0.7928	10	0.49607	T	0.09	-14.6523	13.1619	0.59548	0.0777:0.0:0.9223:0.0	.	82	P13639	EF2_HUMAN	L	82	ENSP00000307940:S82L	ENSP00000307940:S82L	S	-	2	0	EEF2	3934263	0.743000	0.28239	0.107000	0.21349	0.519000	0.34347	2.397000	0.44477	1.219000	0.43474	0.591000	0.81541	TCG		0.587	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		4	18	0	0	0	1	0	4	18				
ARFGAP3	26286	broad.mit.edu	37	22	43195057	43195057	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:43195057C>T	ENST00000263245.5	-	15	1740	c.1521G>A	c.(1519-1521)gtG>gtA	p.V507V	ARFGAP3_ENST00000429508.2_Silent_p.V435V|ARFGAP3_ENST00000437119.2_Silent_p.V463V	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	507					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GAATTGAAGTCACGACTCCAT	0.527																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(1519-1521)gtG>gtA		ADP-ribosylation factor GTPase activating protein 3							226.0	209.0	215.0					22																	43195057		2203	4300	6503	SO:0001819	synonymous_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43195057C>T	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1521G>A	22.37:g.43195057C>T						ARFGAP3_ENST00000429508.2_Silent_p.V435V|ARFGAP3_ENST00000437119.2_Silent_p.V463V	p.V507V	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			15	1740	-			507					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Silent	SNP	ENST00000263245.5	37	c.1521G>A	CCDS14042.1																																																																																				0.527	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		32	199	0	0	0	1	0	32	199				
KIF22	3835	broad.mit.edu	37	16	29816601	29816601	+	Silent	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:29816601C>G	ENST00000160827.4	+	14	2008	c.1968C>G	c.(1966-1968)ctC>ctG	p.L656L	MAZ_ENST00000569978.1_5'Flank|KIF22_ENST00000569382.2_Silent_p.L602L|MAZ_ENST00000562337.1_5'Flank|MAZ_ENST00000322945.6_5'Flank|KIF22_ENST00000561482.1_Silent_p.L588L|MAZ_ENST00000568544.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568282.1_5'Flank|MAZ_ENST00000563402.1_5'Flank|MAZ_ENST00000219782.6_5'Flank|MAZ_ENST00000545521.1_5'Flank|KIF22_ENST00000400751.5_Silent_p.L588L|MAZ_ENST00000566906.2_5'Flank	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	656					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCCTGGGTCTCGCCGCCGGCC	0.607																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(1762-1764)ctC>ctG		kinesin family member 22							119.0	133.0	128.0					16																	29816601		2196	4296	6492	SO:0001819	synonymous_variant	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29816601C>G	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1968C>G	16.37:g.29816601C>G						KIF22_ENST00000569382.2_Silent_p.L602L|KIF22_ENST00000160827.4_Silent_p.L656L|KIF22_ENST00000400751.5_Silent_p.L588L	p.L588L	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			14	2401	+			656					B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Silent	SNP	ENST00000160827.4	37	c.1764C>G	CCDS10653.1																																																																																				0.607	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			33	191	0	0	0	1	0	33	191				
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)gGt>gTt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V	p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		7	46	1	0	5.18039e-06	1	5.64956e-06	7	46				
SMC2	10592	broad.mit.edu	37	9	106864294	106864294	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:106864294G>T	ENST00000286398.7	+	8	978	c.690G>T	c.(688-690)ttG>ttT	p.L230F	SMC2_ENST00000374793.3_Missense_Mutation_p.L230F|SMC2_ENST00000374787.3_Missense_Mutation_p.L230F|SMC2_ENST00000303219.8_Missense_Mutation_p.L230F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	230					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAGAACATTTGAGTCGTTTAT	0.313																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(688-690)ttG>ttT		structural maintenance of chromosomes 2							92.0	103.0	99.0					9																	106864294		2203	4296	6499	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106864294G>T	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.690G>T	9.37:g.106864294G>T	ENSP00000286398:p.Leu230Phe					SMC2_ENST00000374793.3_Missense_Mutation_p.L230F|SMC2_ENST00000374787.3_Missense_Mutation_p.L230F|SMC2_ENST00000303219.8_Missense_Mutation_p.L230F	p.L230F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			8	978	+			230					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.690G>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952206	0.73787	.	.	ENSG00000136824	ENST00000286398;ENST00000440179;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	D;T;D;T;D	0.82081	-1.57;3.2;-1.57;3.2;-1.57	5.86	4.97	0.65823	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.89469	0.6724	M	0.79475	2.455	0.48452	D	0.999658	D;D;D	0.89917	1.0;0.986;1.0	D;D;D	0.87578	0.998;0.916;0.996	D	0.89713	0.3913	10	0.72032	D	0.01	-7.1144	8.2613	0.31786	0.2305:0.0:0.7695:0.0	.	230;230;230	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	F	230;85;230;230;230;230	ENSP00000286398:L230F;ENSP00000414999:L85F;ENSP00000363925:L230F;ENSP00000306152:L230F;ENSP00000363919:L230F	ENSP00000286398:L230F	L	+	3	2	SMC2	105904115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.490000	0.35573	1.612000	0.50221	0.650000	0.86243	TTG		0.313	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			10	73	1	0	3.86212e-05	1	4.08847e-05	10	73				
RPA1	6117	broad.mit.edu	37	17	1782580	1782580	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:1782580G>A	ENST00000254719.5	+	10	941	c.831G>A	c.(829-831)gaG>gaA	p.E277E	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	277					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATGACTACGAGATGACCTTCA	0.468								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(829-831)gaG>gaA	Nucleotide excision repair (NER)	replication protein A1, 70kDa							105.0	101.0	102.0					17																	1782580		2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782580G>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.831G>A	17.37:g.1782580G>A						RPA1_ENST00000573924.1_3'UTR	p.E277E	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			10	941	+			277					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.831G>A	CCDS11014.1																																																																																				0.468	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		7	64	0	0	0	1	0	7	64				
GABRA5	2558	broad.mit.edu	37	15	27185171	27185171	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:27185171C>G	ENST00000335625.5	+	9	1712	c.824C>G	c.(823-825)tCa>tGa	p.S275*	GABRA5_ENST00000400081.3_Nonsense_Mutation_p.S275*|GABRB3_ENST00000541819.2_5'Flank|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.S275*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	275					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GTGATCTTATCACAGGTGTCC	0.502																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(823-825)tCa>tGa		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						114.0	108.0	110.0					15																	27185171		1978	4169	6147	SO:0001587	stop_gained	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185171C>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.824C>G	15.37:g.27185171C>G	ENSP00000335592:p.Ser275*					GABRA5_ENST00000400081.3_Nonsense_Mutation_p.S275*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.S275*	p.S275*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	9	1712	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	275					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	ENST00000335625.5	37	c.824C>G	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	41	8.938795	0.99010	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7273	0.88369	0.0:1.0:0.0:0.0	.	.	.	.	X	275	.	ENSP00000335592:S275X	S	+	2	0	GABRA5	24767917	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	7.607000	0.82883	2.431000	0.82371	0.561000	0.74099	TCA		0.502	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			8	26	0	0	0	1	0	8	26				
OR14I1	401994	broad.mit.edu	37	1	248844948	248844948	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:248844948A>G	ENST00000342623.3	-	1	681	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACCGTTGAGAAGATTTGGAAA	0.478																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(658-660)Ttc>Ctc		olfactory receptor, family 14, subfamily I, member 1							79.0	84.0	82.0					1																	248844948		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844948A>G		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.658T>C	1.37:g.248844948A>G	ENSP00000339726:p.Phe220Leu						p.F220L	NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN			1	681	-			220						Missense_Mutation	SNP	ENST00000342623.3	37	c.658T>C	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	17.85	3.489827	0.64074	.	.	ENSG00000189181	ENST00000342623	T	0.00058	8.79	3.49	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000189	T	0.00178	0.0005	N	0.26042	0.785	0.09310	N	1	P	0.45827	0.867	P	0.56088	0.791	T	0.50651	-0.8803	10	0.46703	T	0.11	.	7.5604	0.27847	0.562:0.438:0.0:0.0	.	220	A6ND48	O14I1_HUMAN	L	220	ENSP00000339726:F220L	ENSP00000339726:F220L	F	-	1	0	OR14I1	246911571	0.000000	0.05858	0.003000	0.11579	0.533000	0.34776	-3.197000	0.00562	0.379000	0.24794	0.443000	0.29094	TTC		0.478	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		9	85	0	0	0	1	0	9	85				
NOL10	79954	broad.mit.edu	37	2	10712233	10712233	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:10712233C>T	ENST00000381685.5	-	21	2136	c.2031G>A	c.(2029-2031)ctG>ctA	p.L677L	NOL10_ENST00000345985.3_Silent_p.L627L|NOL10_ENST00000542668.1_Silent_p.L627L|NOL10_ENST00000538384.1_Silent_p.L651L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	677						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTCTTGACTTCAGGTGTCCGG	0.478																																						ENST00000345985.3																			0											c.(1879-1881)ctG>ctA		nucleolar protein 10							280.0	246.0	258.0					2																	10712233		2203	4300	6503	SO:0001819	synonymous_variant	79954					nucleolus		g.chr2:10712233C>T	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.2031G>A	2.37:g.10712233C>T						NOL10_ENST00000381685.5_Silent_p.L677L|NOL10_ENST00000542668.1_Silent_p.L627L|NOL10_ENST00000538384.1_Silent_p.L651L	p.L627L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	20	1991	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		677					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	ENST00000381685.5	37	c.1881G>A	CCDS1673.2																																																																																				0.478	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		24	152	0	0	0	1	0	24	152				
SCN1A	6323	broad.mit.edu	37	2	166852540	166852540	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:166852540G>C	ENST00000303395.4	-	24	4563	c.4564C>G	c.(4564-4566)Cct>Gct	p.P1522A	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1511A|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1494A|SCN1A_ENST00000423058.2_Missense_Mutation_p.P1522A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1522					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGAGGTATAGGCTTTTGCGGT	0.333																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4564-4566)Cct>Gct		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						134.0	128.0	130.0					2																	166852540		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166852540G>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4564C>G	2.37:g.166852540G>C	ENSP00000303540:p.Pro1522Ala					AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P1494A|SCN1A_ENST00000375405.3_Missense_Mutation_p.P1511A|SCN1A_ENST00000303395.4_Missense_Mutation_p.P1522A	p.P1522A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			24	4581	-			1522					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4564C>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659805	0.88154	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96459	-4.02;-4.02;-3.97;-3.96	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97114	0.9806	10	0.32370	T	0.25	.	20.1438	0.98071	0.0:0.0:1.0:0.0	.	1511	P35498-2	.	A	1522;1522;1511;1494	ENSP00000407030:P1522A;ENSP00000303540:P1522A;ENSP00000364554:P1511A;ENSP00000386312:P1494A	ENSP00000303540:P1522A	P	-	1	0	SCN1A	166560786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.810000	0.99221	2.768000	0.95171	0.650000	0.86243	CCT		0.333	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		7	58	0	0	0	1	0	7	58				
HTR6	3362	broad.mit.edu	37	1	19992872	19992872	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:19992872G>T	ENST00000289753.1	+	1	1093	c.626G>T	c.(625-627)tGc>tTc	p.C209F		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	209					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TTCACCTACTGCAGGATCCTG	0.667																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(625-627)tGc>tTc		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						45.0	47.0	46.0					1																	19992872		2203	4300	6503	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992872G>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.626G>T	1.37:g.19992872G>T	ENSP00000289753:p.Cys209Phe						p.C209F	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	1093	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	209					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.626G>T	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661378	0.67700	.	.	ENSG00000158748	ENST00000289753	T	0.71461	-0.57	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.105045	0.64402	D	0.000002	T	0.64305	0.2586	L	0.33792	1.035	0.40833	D	0.983605	P	0.42203	0.773	P	0.44518	0.452	T	0.64769	-0.6329	9	.	.	.	.	15.2037	0.73159	0.0:0.0:1.0:0.0	.	209	P50406	5HT6R_HUMAN	F	209	ENSP00000289753:C209F	.	C	+	2	0	HTR6	19865459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.011000	0.59026	0.491000	0.48974	TGC		0.667	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		9	55	1	0	9.70103e-10	1	1.08247e-09	9	55				
FREM2	341640	broad.mit.edu	37	13	39262646	39262646	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:39262646C>T	ENST00000280481.7	+	1	1381	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	389					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGGGATCTGCGGCTCCTGAA	0.552																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1165-1167)Cgg>Tgg		FRAS1 related extracellular matrix protein 2							73.0	78.0	76.0					13																	39262646		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262646C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1165C>T	13.37:g.39262646C>T	ENSP00000280481:p.Arg389Trp						p.R389W	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1381	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	389					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1165C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009984	0.35415	.	.	ENSG00000150893	ENST00000280481	T	0.20463	2.07	5.94	3.17	0.36434	.	0.450190	0.24403	N	0.038831	T	0.26304	0.0642	M	0.67397	2.05	0.09310	N	1	B	0.21688	0.059	B	0.18871	0.023	T	0.26710	-1.0095	10	0.72032	D	0.01	.	15.9694	0.80001	0.4553:0.5447:0.0:0.0	.	389	Q5SZK8	FREM2_HUMAN	W	389	ENSP00000280481:R389W	ENSP00000280481:R389W	R	+	1	2	FREM2	38160646	0.000000	0.05858	0.940000	0.37924	0.735000	0.41995	0.381000	0.20619	0.832000	0.34804	0.561000	0.74099	CGG		0.552	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		12	71	0	0	0	1	0	12	71				
NOTCH3	4854	broad.mit.edu	37	19	15302416	15302416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:15302416G>T	ENST00000263388.2	-	6	930	c.855C>A	c.(853-855)tgC>tgA	p.C285*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	285	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCATTGTGGCAGGCGTTGG	0.607																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(853-855)tgC>tgA		notch 3							64.0	49.0	54.0					19																	15302416		2202	4300	6502	SO:0001587	stop_gained	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15302416G>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.855C>A	19.37:g.15302416G>T	ENSP00000263388:p.Cys285*						p.C285*	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		6	930	-			285			EGF-like 7.		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	ENST00000263388.2	37	c.855C>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	g	37	6.455533	0.97581	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.38	4.13	0.48395	.	0.000000	0.34777	N	0.003694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3054	0.43678	0.1713:0.0:0.8287:0.0	.	.	.	.	X	285;287	.	ENSP00000263388:C285X	C	-	3	2	NOTCH3	15163416	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.864000	0.48404	2.529000	0.85273	0.558000	0.71614	TGC		0.607	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	31	1	0	0.004672	1	0.00475425	3	31				
CTNNA2	1496	broad.mit.edu	37	2	80816547	80816547	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:80816547A>G	ENST00000402739.4	+	14	2131	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S	CTNNA2_ENST00000541047.1_Missense_Mutation_p.N709S|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.N388S|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.N709S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.N743S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.N709S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.N709S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	709					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACAGCGGCAATGATATCATT	0.478																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2125-2127)aAt>aGt		catenin (cadherin-associated protein), alpha 2							128.0	139.0	135.0					2																	80816547		2200	4300	6500	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816547A>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2126A>G	2.37:g.80816547A>G	ENSP00000384638:p.Asn709Ser					CTNNA2_ENST00000540488.1_Missense_Mutation_p.N709S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.N743S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.N709S|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.N388S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.N709S|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.N709S|AC008067.2_ENST00000595478.1_RNA	p.N709S			P26232	CTNA2_HUMAN			19	2850	+			709					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2126A>G		.	.	.	.	.	.	.	.	.	.	A	22.8	4.340255	0.81911	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.97	4.81	0.61882	.	0.049232	0.85682	D	0.000000	T	0.80829	0.4698	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.926;0.999;0.996;1.0	D	0.84880	0.0830	9	.	.	.	.	13.3559	0.60627	0.8683:0.1317:0.0:0.0	.	341;709;709;709	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	S	709;709;743;709;709;709;388	ENSP00000418191:N709S;ENSP00000419295:N709S;ENSP00000355398:N743S;ENSP00000384638:N709S;ENSP00000444675:N709S;ENSP00000441705:N709S;ENSP00000341500:N388S	.	N	+	2	0	CTNNA2	80670058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.109000	0.94291	1.061000	0.40601	0.533000	0.62120	AAT		0.478	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		12	75	0	0	0	1	0	12	75				
BRD1	23774	broad.mit.edu	37	22	50191666	50191666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:50191666C>A	ENST00000216267.8	-	5	2371	c.1885G>T	c.(1885-1887)Gag>Tag	p.E629*	BRD1_ENST00000542442.1_Nonsense_Mutation_p.E317*|BRD1_ENST00000457780.2_Nonsense_Mutation_p.E629*|BRD1_ENST00000342989.5_Nonsense_Mutation_p.E224*|BRD1_ENST00000404034.1_Nonsense_Mutation_p.E629*|BRD1_ENST00000404760.1_Nonsense_Mutation_p.E629*	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	629	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCAAAATCCTCCTCAAACTCA	0.453																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1885-1887)Gag>Tag		bromodomain containing 1							109.0	105.0	106.0					22																	50191666		2203	4300	6503	SO:0001587	stop_gained	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50191666C>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1885G>T	22.37:g.50191666C>A	ENSP00000216267:p.Glu629*					BRD1_ENST00000542442.1_Nonsense_Mutation_p.E317*|BRD1_ENST00000404034.1_Nonsense_Mutation_p.E629*|BRD1_ENST00000342989.5_Nonsense_Mutation_p.E224*|BRD1_ENST00000404760.1_Nonsense_Mutation_p.E629*|BRD1_ENST00000457780.2_Nonsense_Mutation_p.E629*	p.E629*	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	5	2371	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	629			Bromo.		A6ZJA4	Nonsense_Mutation	SNP	ENST00000216267.8	37	c.1885G>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	37	6.324262	0.97476	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	.	.	.	5.44	5.44	0.79542	.	0.274050	0.41396	D	0.000896	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.2518	0.93926	0.0:1.0:0.0:0.0	.	.	.	.	X	629;629;629;629;317;224;89	.	ENSP00000216267:E629X	E	-	1	0	BRD1	48577670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.825000	0.55730	2.546000	0.85860	0.655000	0.94253	GAG		0.453	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		16	81	1	0	6.31663e-08	1	7.02117e-08	16	81				
COL17A1	1308	broad.mit.edu	37	10	105799374	105799374	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:105799374G>C	ENST00000353479.5	-	42	3103	c.2813C>G	c.(2812-2814)tCa>tGa	p.S938*	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	938	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACCTGAGGTTGAGAAACCTGG	0.592																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2812-2814)tCa>tGa		collagen, type XVII, alpha 1							71.0	80.0	77.0					10																	105799374		2203	4300	6503	SO:0001587	stop_gained	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105799374G>C	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2813C>G	10.37:g.105799374G>C	ENSP00000340937:p.Ser938*					COL17A1_ENST00000369733.3_Intron	p.S938*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	42	3103	-		Colorectal(252;0.103)|Breast(234;0.122)	938			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	37	c.2813C>G	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	39	7.845429	0.98522	.	.	ENSG00000065618	ENST00000353479	.	.	.	4.97	3.12	0.35913	.	0.866100	0.09362	N	0.812670	.	.	.	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.546	8.0851	0.30767	0.1653:0.0:0.8347:0.0	.	.	.	.	X	938	.	ENSP00000340937:S938X	S	-	2	0	COL17A1	105789364	0.187000	0.23238	0.018000	0.16275	0.525000	0.34531	1.441000	0.35035	0.519000	0.28406	0.491000	0.48974	TCA		0.592	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		17	50	0	0	0	1	0	17	50				
SEC14L5	9717	broad.mit.edu	37	16	5053443	5053443	+	Missense_Mutation	SNP	C	C	T	rs369407626		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:5053443C>T	ENST00000251170.7	+	11	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	391	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(1171-1173)Cgg>Tgg		SEC14-like 5 (S. cerevisiae)		C	TRP/ARG	0,3876		0,0,1938	41.0	48.0	46.0		1171	1.2	1.0	16		46	1,8273		0,1,4136	no	missense	SEC14L5	NM_014692.1	101	0,1,6074	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	391/697	5053443	1,12149	1938	4137	6075	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5053443C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1171C>T	16.37:g.5053443C>T	ENSP00000251170:p.Arg391Trp						p.R391W	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			11	1351	+			391			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1171C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619072	0.66787	0.0	1.21E-4	ENSG00000103184	ENST00000251170	T	0.75704	-0.96	4.5	1.17	0.20885	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.075345	0.48767	D	0.000176	D	0.86058	0.5842	M	0.84683	2.71	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.88142	0.2845	10	0.87932	D	0	-24.0061	14.4519	0.67392	0.6133:0.3867:0.0:0.0	.	391	O43304	S14L5_HUMAN	W	391	ENSP00000251170:R391W	ENSP00000251170:R391W	R	+	1	2	SEC14L5	4993444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.010000	0.29898	0.489000	0.27749	0.555000	0.69702	CGG		0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			7	47	0	0	0	1	0	7	47				
ARID3B	10620	broad.mit.edu	37	15	74836400	74836400	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:74836400G>A	ENST00000346246.5	+	2	354	c.123G>A	c.(121-123)ttG>ttA	p.L41L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	41	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCAGTTCTTGTATGCCCAAA	0.577																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(121-123)ttG>ttA		AT rich interactive domain 3B (BRIGHT-like)							42.0	39.0	40.0					15																	74836400		2197	4296	6493	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74836400G>A		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.123G>A	15.37:g.74836400G>A							p.L41L	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			2	354	+			41			Gln-rich.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.123G>A	CCDS10264.1																																																																																				0.577	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		10	36	0	0	0	1	0	10	36				
NPAS3	64067	broad.mit.edu	37	14	34269118	34269118	+	Silent	SNP	G	G	A	rs372667593		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:34269118G>A	ENST00000356141.4	+	12	1605	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S	NPAS3_ENST00000551492.1_Silent_p.S540S|NPAS3_ENST00000346562.2_Silent_p.S503S|NPAS3_ENST00000548645.1_Silent_p.S505S|NPAS3_ENST00000357798.5_Silent_p.S522S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	535					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TCGAGCACTCGGACTTTGAGA	0.642																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1507-1509)tcG>tcA		neuronal PAS domain protein 3		G	,,,	0,4406		0,0,2203	59.0	62.0	61.0		1605,1515,1509,1566	5.2	1.0	14		61	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NPAS3	NM_001164749.1,NM_001165893.1,NM_022123.2,NM_173159.2	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	535/934,505/904,503/902,522/921	34269118	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269118G>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1605G>A	14.37:g.34269118G>A						NPAS3_ENST00000356141.4_Silent_p.S535S|NPAS3_ENST00000551492.1_Silent_p.S540S|NPAS3_ENST00000357798.5_Silent_p.S522S|NPAS3_ENST00000548645.1_Silent_p.S505S	p.S503S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1583	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		535					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1509G>A	CCDS53891.1																																																																																				0.642	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			9	34	0	0	0	1	0	9	34				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	51	0	0	0	1	0	4	51				
TREML1	340205	broad.mit.edu	37	6	41121819	41121819	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:41121819A>G	ENST00000426005.2	-	2	96	c.53T>C	c.(52-54)aTa>aCa	p.I18T	TREML1_ENST00000373127.4_Missense_Mutation_p.I18T|TREML1_ENST00000437044.2_Intron	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	18	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCTGCCAACTATGCCCTGACC	0.582																																						ENST00000373127.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13						c.(52-54)aTa>aCa		triggering receptor expressed on myeloid cells-like 1							27.0	30.0	29.0					6																	41121819		2202	4300	6502	SO:0001583	missense	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41121819A>G	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.53T>C	6.37:g.41121819A>G	ENSP00000402855:p.Ile18Thr					TREML1_ENST00000426005.2_Missense_Mutation_p.I18T|TREML1_ENST00000437044.2_Intron	p.I18T	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN			2	101	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		18			Ig-like V-type.		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	c.53T>C	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	A	5.380	0.255290	0.10185	.	.	ENSG00000161911	ENST00000373127;ENST00000426005	T;T	0.26660	1.72;1.85	5.97	-1.12	0.09808	.	1.174500	0.06133	N	0.671005	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36016	-0.9765	10	0.02654	T	1	.	5.7582	0.18184	0.3191:0.2983:0.3826:0.0	.	18;18	Q86YW5;Q86YW5-2	TRML1_HUMAN;.	T	18	ENSP00000362219:I18T;ENSP00000402855:I18T	ENSP00000362219:I18T	I	-	2	0	TREML1	41229797	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.717000	0.04986	-0.094000	0.12374	-0.408000	0.06270	ATA		0.582	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174		7	50	0	0	0	1	0	7	50				
NUTM1	256646	broad.mit.edu	37	15	34648868	34648868	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:34648868C>T	ENST00000333756.4	+	7	2730	c.2575C>T	c.(2575-2577)Cca>Tca	p.P859S	NUTM1_ENST00000438749.3_Missense_Mutation_p.P877S|NUTM1_ENST00000537011.1_Missense_Mutation_p.P887S	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	859						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGAAACCCTTCCACCCACATG	0.532																																						ENST00000537011.1																			0											c.(2659-2661)Cca>Tca		NUT midline carcinoma, family member 1							62.0	59.0	60.0					15																	34648868		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34648868C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2575C>T	15.37:g.34648868C>T	ENSP00000329448:p.Pro859Ser					NUTM1_ENST00000438749.3_Missense_Mutation_p.P877S|NUTM1_ENST00000333756.4_Missense_Mutation_p.P859S	p.P887S							8	3041	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2659C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	8.011	0.757513	0.15846	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.07114	3.23;3.22;3.23	4.88	-1.94	0.07571	.	1.467820	0.04486	N	0.378589	T	0.02929	0.0087	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40270	-0.9572	10	0.16420	T	0.52	.	0.9367	0.01347	0.1601:0.2884:0.1568:0.3947	.	877;887;859	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	S	887;877;859	ENSP00000444896:P887S;ENSP00000407031:P877S;ENSP00000329448:P859S	ENSP00000329448:P859S	P	+	1	0	C15orf55	32436160	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.436000	0.06922	-0.202000	0.10268	-0.142000	0.14014	CCA		0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		7	50	0	0	0	1	0	7	50				
TMEM40	55287	broad.mit.edu	37	3	12779245	12779245	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:12779245C>T	ENST00000314124.7	-	8	789	c.433G>A	c.(433-435)Gag>Aag	p.E145K	TMEM40_ENST00000435575.1_Missense_Mutation_p.E69K|TMEM40_ENST00000431022.2_Missense_Mutation_p.E161K|TMEM40_ENST00000435218.2_Missense_Mutation_p.E115K|TMEM40_ENST00000264728.8_Missense_Mutation_p.E145K|TMEM40_ENST00000476331.1_5'UTR	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	145						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGAGAGGCCTCCACTTCTCCT	0.413																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(433-435)Gag>Aag		transmembrane protein 40							127.0	123.0	124.0					3																	12779245		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12779245C>T	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.433G>A	3.37:g.12779245C>T	ENSP00000322837:p.Glu145Lys					TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435218.2_Missense_Mutation_p.E115K|TMEM40_ENST00000435575.1_Missense_Mutation_p.E69K|TMEM40_ENST00000264728.8_Missense_Mutation_p.E145K|TMEM40_ENST00000431022.2_Missense_Mutation_p.E161K	p.E145K	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			8	789	-			145					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.433G>A	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719716	0.89205	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000264728;ENST00000431022	.	.	.	5.37	5.37	0.77165	.	0.251533	0.28125	N	0.016504	T	0.76190	0.3953	M	0.61703	1.905	0.45490	D	0.998456	D;P;D;D	0.71674	0.987;0.93;0.998;0.974	P;P;D;P	0.80764	0.754;0.636;0.994;0.854	T	0.76961	-0.2765	9	0.59425	D	0.04	.	14.9472	0.71042	0.0:1.0:0.0:0.0	.	161;69;115;145	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	K	145;69;115;145;161	.	ENSP00000264728:E145K	E	-	1	0	TMEM40	12754245	0.315000	0.24571	0.999000	0.59377	0.970000	0.65996	1.964000	0.40462	2.686000	0.91538	0.655000	0.94253	GAG		0.413	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		5	68	0	0	0	1	0	5	68				
BCLAF1	9774	broad.mit.edu	37	6	136597547	136597547	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:136597547C>T	ENST00000531224.1	-	5	1368	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Silent_p.E370E|BCLAF1_ENST00000527536.1_Silent_p.E372E|BCLAF1_ENST00000392348.2_Silent_p.E370E|BCLAF1_ENST00000353331.4_Silent_p.E370E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	372					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCATTCTCCCTCTGCCCTCC	0.433																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1114-1116)gaG>gaA		BCL2-associated transcription factor 1							202.0	219.0	213.0					6																	136597547		2203	4296	6499	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597547C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1116G>A	6.37:g.136597547C>T						BCLAF1_ENST00000353331.4_Silent_p.E370E|BCLAF1_ENST00000527759.1_Silent_p.E370E|BCLAF1_ENST00000527536.1_Silent_p.E372E|BCLAF1_ENST00000392348.2_Silent_p.E370E|BCLAF1_ENST00000530767.1_Intron	p.E372E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1368	-	Colorectal(23;0.24)		372					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1116G>A	CCDS5177.1																																																																																				0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		29	419	0	0	0	1	0	29	419				
FZD2	2535	broad.mit.edu	37	17	42636594	42636594	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:42636594G>A	ENST00000315323.3	+	1	1670	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	513					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TACACGCCGCGCATGTCGCCC	0.627																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1537-1539)cGc>cAc		frizzled family receptor 2							42.0	40.0	41.0					17																	42636594		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636594G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1538G>A	17.37:g.42636594G>A	ENSP00000323901:p.Arg513His						p.R513H	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1670	+		Prostate(33;0.0181)	513					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1538G>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	11.81	1.750269	0.30955	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.81908	-1.55	5.0	4.03	0.46877	GPCR, family 2-like (1);	0.172114	0.52532	D	0.000067	T	0.73606	0.3608	L	0.37750	1.13	0.38556	D	0.949573	B	0.22080	0.064	B	0.18561	0.022	T	0.67620	-0.5624	10	0.15499	T	0.54	.	13.0558	0.58980	0.0791:0.0:0.9209:0.0	.	513	Q14332	FZD2_HUMAN	H	589;513	ENSP00000323901:R513H	ENSP00000323901:R513H	R	+	2	0	FZD2	39992120	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.117000	0.41939	1.110000	0.41699	0.555000	0.69702	CGC		0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		3	34	0	0	0	1	0	3	34				
CREBBP	1387	broad.mit.edu	37	16	3819189	3819189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:3819189C>A	ENST00000262367.5	-	15	3855	c.3046G>T	c.(3046-3048)Gag>Tag	p.E1016*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E978*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1016					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GACCTGGGCTCCCCTTTGGAT	0.592			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3046-3048)Gag>Tag		CREB binding protein							108.0	90.0	96.0					16																	3819189		2197	4300	6497	SO:0001587	stop_gained	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3819189C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3046G>T	16.37:g.3819189C>A	ENSP00000262367:p.Glu1016*					CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E978*	p.E1016*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	15	3855	-		Ovarian(90;0.0266)	1016					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.3046G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	47	13.018095	0.99713	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-11.8685	18.3383	0.90297	0.0:1.0:0.0:0.0	.	.	.	.	X	1016;1046;978	.	ENSP00000262367:E1016X	E	-	1	0	CREBBP	3759190	1.000000	0.71417	0.541000	0.28102	0.136000	0.21042	4.839000	0.62810	2.641000	0.89580	0.555000	0.69702	GAG		0.592	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		16	70	1	0	1.56452e-12	1	1.78011e-12	16	70				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	51	0	0	0	1	0	4	51				
FFAR4	338557	broad.mit.edu	37	10	95347156	95347156	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:95347156C>T	ENST00000371483.4	+	4	980	c.924C>T	c.(922-924)ttC>ttT	p.F308F	FFAR4_ENST00000371481.4_Silent_p.F292F|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	308					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										TCCAGAACTTCAAGCAAGACC	0.522																																						ENST00000371483.4																			0											c.(922-924)ttC>ttT		free fatty acid receptor 4							276.0	256.0	263.0					10																	95347156		2203	4300	6503	SO:0001819	synonymous_variant	338557							g.chr10:95347156C>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.924C>T	10.37:g.95347156C>T						FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Silent_p.F292F	p.F308F	NM_181745.3	NP_859529.2					4	980	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	c.924C>T	CCDS31248.1																																																																																				0.522	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		38	191	0	0	0	1	0	38	191				
CDH13	1012	broad.mit.edu	37	16	83520131	83520131	+	Silent	SNP	C	C	T	rs542715718		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:83520131C>T	ENST00000566620.1	+	7	1121	c.831C>T	c.(829-831)acC>acT	p.T277T	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.T324T|CDH13_ENST00000428848.3_Silent_p.T238T	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	277	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		ACCCAGCCACCGATAATGCCC	0.517																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(829-831)acC>acT		cadherin 13							80.0	81.0	81.0					16																	83520131		2102	4227	6329	SO:0001819	synonymous_variant	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.chr16:83520131C>T	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.831C>T	16.37:g.83520131C>T						CDH13_ENST00000268613.10_Silent_p.T324T|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Silent_p.T238T	p.T277T	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)	7	1121	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	277			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.831C>T	CCDS58486.1																																																																																				0.517	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		10	60	0	0	0	1	0	10	60				
ZNF700	90592	broad.mit.edu	37	19	12059116	12059116	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:12059116G>A	ENST00000254321.5	+	4	420	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	ZNF700_ENST00000482090.1_Missense_Mutation_p.E75K|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAAAGTCAATGAAATTAAAGA	0.358																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(223-225)Gaa>Aaa		zinc finger protein 700							95.0	99.0	98.0					19																	12059116		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059116G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.277G>A	19.37:g.12059116G>A	ENSP00000254321:p.Glu93Lys					ZNF700_ENST00000254321.5_Missense_Mutation_p.E93K|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.E75K			Q9H0M5	ZN700_HUMAN			3	641	+			93			KRAB.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.223G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	-	10.31	1.315308	0.23908	.	.	ENSG00000196757	ENST00000254321	T	0.06933	3.24	0.672	-0.55	0.11825	Krueppel-associated box (1);	.	.	.	.	T	0.05731	0.0150	N	0.05230	-0.09	0.09310	N	1	D	0.62365	0.991	P	0.57204	0.815	T	0.13602	-1.0503	8	0.06494	T	0.89	.	.	.	.	.	93	Q9H0M5	ZN700_HUMAN	K	93	ENSP00000254321:E93K	ENSP00000254321:E93K	E	+	1	0	ZNF700	11920116	0.000000	0.05858	0.002000	0.10522	0.257000	0.26127	-1.123000	0.03263	-0.199000	0.10317	0.305000	0.20034	GAA		0.358	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		19	128	0	0	0	1	0	19	128				
PRKAG3	53632	broad.mit.edu	37	2	219694951	219694951	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:219694951G>C	ENST00000529249.1	-	4	698	c.383C>G	c.(382-384)tCc>tGc	p.S128C	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.S103C|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S128C			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	128					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	ATCTGTGCTGGAGCCTGCAGC	0.632																																						ENST00000439262.2																			0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(307-309)tCc>tGc		protein kinase, AMP-activated, gamma 3 non-catalytic subunit							31.0	32.0	31.0					2																	219694951		2203	4300	6503	SO:0001583	missense	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219694951G>C	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.383C>G	2.37:g.219694951G>C	ENSP00000436068:p.Ser128Cys					PRKAG3_ENST00000529249.1_Missense_Mutation_p.S128C|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Missense_Mutation_p.S128C	p.S103C	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	403	-		Renal(207;0.0474)	128					Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	c.308C>G	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128804	0.56721	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098	D;D;T	0.83419	-1.7;-1.72;0.1	5.42	4.53	0.55603	.	0.640042	0.14157	N	0.337611	D	0.84306	0.5443	L	0.32530	0.975	0.09310	N	1	D;D;D	0.89917	1.0;0.998;0.997	D;P;P	0.74348	0.983;0.891;0.781	T	0.73316	-0.4021	10	0.56958	D	0.05	-17.8006	7.4399	0.27176	0.0868:0.0:0.7493:0.1639	.	128;103;128	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	C	103;128;128	ENSP00000397133:S103C;ENSP00000436068:S128C;ENSP00000375947:S128C	ENSP00000233944:S128C	S	-	2	0	PRKAG3	219403195	0.999000	0.42202	0.630000	0.29268	0.035000	0.12851	3.136000	0.50554	2.556000	0.86216	0.655000	0.94253	TCC		0.632	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1			3	19	0	0	0	1	0	3	19				
RXFP1	59350	broad.mit.edu	37	4	159568024	159568024	+	Missense_Mutation	SNP	C	C	A	rs530687587		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:159568024C>A	ENST00000307765.5	+	16	1678	c.1427C>A	c.(1426-1428)gCg>gAg	p.A476E	RXFP1_ENST00000470033.1_Missense_Mutation_p.A443E|RXFP1_ENST00000460056.2_Missense_Mutation_p.A395E|RXFP1_ENST00000343542.5_Missense_Mutation_p.A428E|RXFP1_ENST00000448688.2_Missense_Mutation_p.A371E	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	476					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)	p.A476V(1)		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)		AATAAGCATGCGCAGCTGTGG	0.418																																						ENST00000307765.5																			1	Substitution - Missense(1)	p.A476V(1)	endometrium(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1426-1428)gCg>gAg		relaxin/insulin-like family peptide receptor 1							137.0	127.0	130.0					4																	159568024		1910	4134	6044	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568024C>A	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.1427C>A	4.37:g.159568024C>A	ENSP00000303248:p.Ala476Glu					RXFP1_ENST00000470033.1_Missense_Mutation_p.A443E|RXFP1_ENST00000343542.5_Missense_Mutation_p.A428E|RXFP1_ENST00000448688.2_Missense_Mutation_p.A371E|RXFP1_ENST00000460056.2_Missense_Mutation_p.A395E	p.A476E	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)	16	1678	+	all_hematologic(180;0.24)	Renal(120;0.0854)	476					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1427C>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.544157	0.86022	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.71103	-0.39;-0.5;-0.35;-0.54;-0.49	5.74	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.045544	0.85682	D	0.000000	D	0.83487	0.5265	M	0.75777	2.31	0.52099	D	0.999947	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.987;1.0;0.976;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.994;0.999;0.957;0.999;0.942;0.999;0.999	D	0.85781	0.1361	10	0.87932	D	0	.	15.0587	0.71936	0.0:0.9319:0.0:0.0681	.	487;503;371;428;443;395;346;476	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	E	395;476;371;428;443;346	ENSP00000423306:A395E;ENSP00000303248:A476E;ENSP00000414885:A371E;ENSP00000345889:A428E;ENSP00000420712:A443E	ENSP00000303248:A476E	A	+	2	0	RXFP1	159787474	1.000000	0.71417	0.230000	0.23976	0.917000	0.54804	6.030000	0.70903	1.437000	0.47472	-0.127000	0.14921	GCG		0.418	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		12	93	1	0	4.36969e-10	1	4.89473e-10	12	93				
NOTCH1	4851	broad.mit.edu	37	9	139412278	139412278	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:139412278C>T	ENST00000277541.6	-	8	1442	c.1367G>A	c.(1366-1368)tGc>tAc	p.C456Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	456	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTCGAGACGCACTCGTTGAC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1366-1368)tGc>tAc		notch 1							57.0	64.0	62.0					9																	139412278		2179	4262	6441	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412278C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1367G>A	9.37:g.139412278C>T	ENSP00000277541:p.Cys456Tyr	HNSCC(8;0.001)					p.C456Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1442	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	456			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1367G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305986	0.81247	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99924	4.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96191	0.9138	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	456	P46531	NOTC1_HUMAN	Y	456	ENSP00000277541:C456Y	ENSP00000277541:C456Y	C	-	2	0	NOTCH1	138532099	1.000000	0.71417	0.966000	0.40874	0.731000	0.41821	7.584000	0.82572	2.088000	0.63022	0.462000	0.41574	TGC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	58	0	0	0	1	0	9	58				
TOX3	27324	broad.mit.edu	37	16	52480095	52480095	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:52480095C>A	ENST00000219746.9	-	5	1001	c.717G>T	c.(715-717)aaG>aaT	p.K239N	TOX3_ENST00000407228.3_Missense_Mutation_p.K234N	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	239					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TCTTGGGCTTCTTGCCAGAGT	0.453																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(715-717)aaG>aaT		TOX high mobility group box family member 3							45.0	43.0	43.0					16																	52480095		1887	4149	6036	SO:0001583	missense	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52480095C>A	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.717G>T	16.37:g.52480095C>A	ENSP00000219746:p.Lys239Asn					TOX3_ENST00000407228.3_Missense_Mutation_p.K234N	p.K239N	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			5	1001	-			239					B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.717G>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716304	0.89205	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.15487	2.43;2.42	5.9	5.9	0.94986	High mobility group, superfamily (1);	0.103913	0.64402	D	0.000004	T	0.48059	0.1479	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.43925	-0.9361	10	0.66056	D	0.02	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	234;239	B4DRD0;O15405	.;TOX3_HUMAN	N	239;234	ENSP00000219746:K239N;ENSP00000385705:K234N	ENSP00000219746:K239N	K	-	3	2	TOX3	51037596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.070000	0.71220	2.806000	0.96561	0.655000	0.94253	AAG		0.453	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		6	47	1	0	3.59834e-05	1	3.82323e-05	6	47				
PCDH17	27253	broad.mit.edu	37	13	58298781	58298781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:58298781C>T	ENST00000377918.3	+	4	2859	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	945					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGATGAATGCCGAGTGCTTGG	0.423																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2833-2835)Cga>Tga		protocadherin 17							63.0	60.0	61.0					13																	58298781		2203	4300	6503	SO:0001587	stop_gained	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58298781C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2833C>T	13.37:g.58298781C>T	ENSP00000367151:p.Arg945*						p.R945*	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	2859	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	945					A8K1R5|Q5VVW9|Q5VVX0	Nonsense_Mutation	SNP	ENST00000377918.3	37	c.2833C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	38	7.161890	0.98103	.	.	ENSG00000118946	ENST00000377918	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4471	0.67359	0.2437:0.7563:0.0:0.0	.	.	.	.	X	945	.	.	R	+	1	2	PCDH17	57196782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.593000	0.54001	2.885000	0.99019	0.655000	0.94253	CGA		0.423	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		11	45	0	0	0	1	0	11	45				
ZNF99	7652	broad.mit.edu	37	19	22941702	22941702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:22941702C>A	ENST00000596209.1	-	4	1099	c.1009G>T	c.(1009-1011)Gga>Tga	p.G337*	ZNF99_ENST00000397104.3_Nonsense_Mutation_p.G246*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	337					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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTTTCCAGTATGAATT	0.373																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(736-738)Gga>Tga		zinc finger protein 99							50.0	52.0	51.0					19																	22941702		2021	4207	6228	SO:0001587	stop_gained	7652							g.chr19:22941702C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1009G>T	19.37:g.22941702C>A	ENSP00000472969:p.Gly337*					ZNF99_ENST00000596209.1_Nonsense_Mutation_p.G337*	p.G246*							5	735	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	c.736G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	14.98	2.696473	0.48202	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.34	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.642	0.39844	0.0:1.0:0.0:0.0	.	.	.	.	X	246	.	ENSP00000380293:G246X	G	-	1	0	ZNF99	22733542	0.003000	0.15002	0.007000	0.13788	0.006000	0.05464	0.774000	0.26675	0.719000	0.32188	0.451000	0.29950	GGA		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	54	1	0	1.23904e-05	1	1.33116e-05	4	54				
NKRF	55922	broad.mit.edu	37	X	118724262	118724262	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:118724262A>C	ENST00000371527.1	-	2	1778	c.1126T>G	c.(1126-1128)Tgg>Ggg	p.W376G	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.W391G|NKRF_ENST00000304449.5_Missense_Mutation_p.W376G	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	376					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CGACAACGCCATGTGCGATTT	0.383																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1126-1128)Tgg>Ggg		NFKB repressing factor							108.0	98.0	101.0					X																	118724262		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724262A>C	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1126T>G	X.37:g.118724262A>C	ENSP00000360582:p.Trp376Gly					NKRF_ENST00000542113.1_Missense_Mutation_p.W391G|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.W376G	p.W376G	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	1778	-			376					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1126T>G	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638967	0.47153	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.76709	-1.04;-1.04;-1.04	5.85	5.85	0.93711	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88153	0.2852	10	0.66056	D	0.02	-5.9541	14.2578	0.66062	1.0:0.0:0.0:0.0	.	376	O15226	NKRF_HUMAN	G	376;376;391	ENSP00000360582:W376G;ENSP00000304803:W376G;ENSP00000442308:W391G	ENSP00000304803:W376G	W	-	1	0	NKRF	118608290	1.000000	0.71417	0.962000	0.40283	0.992000	0.81027	8.917000	0.92751	1.965000	0.57142	0.486000	0.48141	TGG		0.383	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		27	63	0	0	0	1	0	27	63				
MYH3	4621	broad.mit.edu	37	17	10543998	10543998	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:10543998C>T	ENST00000583535.1	-	20	2258	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R724Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	724	Myosin motor.				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						attcagcactcggtatctgca	0.458																																						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.(2170-2172)cGa>cAa		myosin, heavy chain 3, skeletal muscle, embryonic							88.0	76.0	80.0					17																	10543998		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.chr17:10543998C>T		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.2171G>A	17.37:g.10543998C>T	ENSP00000464317:p.Arg724Gln					MYH3_ENST00000226209.7_Missense_Mutation_p.R724Q	p.R724Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			20	2258	-			724			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2171G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981537	0.53827	.	.	ENSG00000109063	ENST00000226209	D	0.87334	-2.24	5.74	5.74	0.90152	Myosin head, motor domain (2);	.	.	.	.	D	0.84977	0.5592	L	0.60845	1.875	0.36335	D	0.859083	B	0.33103	0.397	B	0.34242	0.178	D	0.84484	0.0607	9	0.24483	T	0.36	.	15.4422	0.75195	0.0:0.9316:0.0:0.0684	.	724	P11055	MYH3_HUMAN	Q	724	ENSP00000226209:R724Q	ENSP00000226209:R724Q	R	-	2	0	MYH3	10484723	0.065000	0.20965	1.000000	0.80357	0.860000	0.49131	0.786000	0.26844	2.873000	0.98535	0.561000	0.74099	CGA		0.458	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		11	47	0	0	0	1	0	11	47				
PCOLCE	5118	broad.mit.edu	37	7	100204123	100204123	+	Nonsense_Mutation	SNP	C	C	A	rs189524054		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:100204123C>A	ENST00000223061.5	+	6	1090	c.810C>A	c.(808-810)taC>taA	p.Y270*	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	270	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGCCTCCTACAAGACCCTGC	0.622																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(808-810)taC>taA		procollagen C-endopeptidase enhancer							57.0	50.0	52.0					7																	100204123		2203	4300	6503	SO:0001587	stop_gained	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100204123C>A	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.810C>A	7.37:g.100204123C>A	ENSP00000223061:p.Tyr270*						p.Y270*	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			6	1090	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		270			CUB 2.		B2R9E1|O14550	Nonsense_Mutation	SNP	ENST00000223061.5	37	c.810C>A	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678444	0.96764	.	.	ENSG00000106333	ENST00000223061	.	.	.	4.76	0.673	0.17941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0839	7.899	0.29723	0.0:0.5997:0.0:0.4003	.	.	.	.	X	270	.	ENSP00000223061:Y270X	Y	+	3	2	PCOLCE	100042059	0.273000	0.24181	0.353000	0.25747	0.841000	0.47740	0.388000	0.20735	0.248000	0.21435	0.462000	0.41574	TAC		0.622	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		7	50	1	0	0.0293803	1	0.0295851	7	50				
PAFAH2	5051	broad.mit.edu	37	1	26303187	26303187	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:26303187C>T	ENST00000374282.3	-	8	923	c.744G>A	c.(742-744)aaG>aaA	p.K248K	PAFAH2_ENST00000374284.1_Silent_p.K248K	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	248					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGGGTCTCCTTGGCCAAAG	0.448																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(742-744)aaG>aaA		platelet-activating factor acetylhydrolase 2, 40kDa							102.0	88.0	93.0					1																	26303187		2203	4300	6503	SO:0001819	synonymous_variant	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26303187C>T	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.744G>A	1.37:g.26303187C>T						PAFAH2_ENST00000374284.1_Silent_p.K248K	p.K248K	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	8	923	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	248					D3DPK1|O15458|Q5SY02	Silent	SNP	ENST00000374282.3	37	c.744G>A	CCDS270.1																																																																																				0.448	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		9	35	0	0	0	1	0	9	35				
USH1C	10083	broad.mit.edu	37	11	17537815	17537815	+	Intron	SNP	G	G	A	rs377439949		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:17537815G>A	ENST00000318024.4	-	15	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000005226.7_Silent_p.Y411Y	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATTTGCCATCGTAACGATAAA	0.488																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1231-1233)taC>taT		Usher syndrome 1C (autosomal recessive, severe)		G	,	1,4399	2.1+/-5.4	0,1,2199	171.0	136.0	148.0		,1233	-7.4	0.6	11		148	0,8586		0,0,4293	no	intron,coding-synonymous	USH1C	NM_005709.3,NM_153676.3	,	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	,	,411/900	17537815	1,12985	2200	4293	6493	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17537815G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+1132C>T	11.37:g.17537815G>A						USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	p.Y411Y	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			15	1232	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	37	c.1233C>T	CCDS31438.1																																																																																				0.488	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		4	15	0	0	0	1	0	4	15				
ZNF808	388558	broad.mit.edu	37	19	53056494	53056494	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:53056494G>C	ENST00000359798.4	+	5	505	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	109					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATTGAGAAAGAAATTCATAA	0.398																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(325-327)Gaa>Caa		zinc finger protein 808							149.0	157.0	154.0					19																	53056494		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056494G>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.325G>C	19.37:g.53056494G>C	ENSP00000352846:p.Glu109Gln						p.E109Q	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	505	+			109					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.325G>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	7.747	0.702455	0.15172	.	.	ENSG00000198482	ENST00000359798;ENST00000465448;ENST00000486474;ENST00000461321	T;T;T;T	0.05513	3.43;5.61;3.62;5.55	1.57	-3.14	0.05250	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B	0.27380	0.177	B	0.27262	0.078	T	0.45498	-0.9257	9	0.12766	T	0.61	.	0.0904	0.00039	0.2688:0.2498:0.232:0.2494	.	109	Q8N4W9	ZN808_HUMAN	Q	109;109;40;109	ENSP00000352846:E109Q;ENSP00000419291:E109Q;ENSP00000418528:E40Q;ENSP00000418696:E109Q	ENSP00000352846:E109Q	E	+	1	0	ZNF808	57748306	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-0.003000	0.12901	-0.709000	0.05008	0.305000	0.20034	GAA		0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		33	220	0	0	0	1	0	33	220				
AFF3	3899	broad.mit.edu	37	2	100623782	100623782	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:100623782C>T	ENST00000409236.2	-	4	427	c.315G>A	c.(313-315)gtG>gtA	p.V105V	AFF3_ENST00000409579.1_Silent_p.V130V|AFF3_ENST00000356421.2_Silent_p.V130V|AFF3_ENST00000317233.4_Silent_p.V105V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	105					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGATCTTGTTCACAGGAGTCT	0.458																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(313-315)gtG>gtA		AF4/FMR2 family, member 3							101.0	110.0	107.0					2																	100623782		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623782C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.315G>A	2.37:g.100623782C>T						AFF3_ENST00000409236.1_Silent_p.V105V|AFF3_ENST00000356421.2_Silent_p.V130V|AFF3_ENST00000409579.1_Silent_p.V130V	p.V105V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			5	550	-			105					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.315G>A	CCDS42723.1																																																																																				0.458	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		8	68	0	0	0	1	0	8	68				
NT5DC1	221294	broad.mit.edu	37	6	116565100	116565100	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:116565100A>T	ENST00000319550.4	+	12	1363	c.1281A>T	c.(1279-1281)agA>agT	p.R427S	RP3-486I3.5_ENST00000457319.1_RNA	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	427							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATTTACAAGATTCTCTTCAA	0.348																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(1279-1281)agA>agT		5'-nucleotidase domain containing 1							47.0	48.0	48.0					6																	116565100		2201	4295	6496	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116565100A>T	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.1281A>T	6.37:g.116565100A>T	ENSP00000326858:p.Arg427Ser						p.R427S	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	12	1363	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	427					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.1281A>T	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555865	0.65425	.	.	ENSG00000178425	ENST00000319550	T	0.19806	2.12	4.34	-2.26	0.06867	HAD-like domain (1);	0.049002	0.85682	D	0.000000	T	0.11367	0.0277	M	0.78049	2.395	0.44677	D	0.997662	D;B;D	0.57899	0.968;0.226;0.981	P;B;P	0.52343	0.581;0.093;0.696	T	0.49082	-0.8976	10	0.08599	T	0.76	-11.3283	3.6092	0.08054	0.482:0.0:0.2476:0.2705	.	377;427;427	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	S	427	ENSP00000326858:R427S	ENSP00000326858:R427S	R	+	3	2	NT5DC1	116671793	0.991000	0.36638	0.980000	0.43619	0.998000	0.95712	0.133000	0.15912	-0.481000	0.06792	0.528000	0.53228	AGA		0.348	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		7	43	0	0	0	1	0	7	43				
PCDHAC1	56135	broad.mit.edu	37	5	140308245	140308245	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:140308245A>T	ENST00000253807.2	+	1	1768	c.1768A>T	c.(1768-1770)Agt>Tgt	p.S590C	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S590C|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	590	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCTGACAGTGGTTCTAA	0.517																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1768-1770)Agt>Tgt									102.0	103.0	103.0					5																	140308245		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140308245A>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1768A>T	5.37:g.140308245A>T	ENSP00000253807:p.Ser590Cys					PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S590C|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	p.S590C	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1768	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1768A>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088907	0.55968	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.53857	0.6;0.6	5.95	3.46	0.39613	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79452	0.4448	H	0.98199	4.17	0.22389	N	0.999143	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69007	-0.5259	9	0.87932	D	0	.	5.4244	0.16417	0.735:0.0:0.1364:0.1286	.	590;590	Q9H158;Q9H158-2	PCDC1_HUMAN;.	C	590	ENSP00000386356:S590C;ENSP00000253807:S590C	ENSP00000253807:S590C	S	+	1	0	PCDHAC1	140288429	0.043000	0.20138	1.000000	0.80357	0.989000	0.77384	1.181000	0.32017	1.069000	0.40788	0.460000	0.39030	AGT		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		13	101	0	0	0	1	0	13	101				
LPL	4023	broad.mit.edu	37	8	19811639	19811639	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:19811639C>G	ENST00000311322.8	+	5	1020	c.550C>G	c.(550-552)Cca>Gca	p.P184A		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	184			P -> R (in LPL deficiency; Nijmegen; loss of activity). {ECO:0000269|PubMed:1521525}.		chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	AGGCCTCGATCCAGCTGGACC	0.458																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(550-552)Cca>Gca		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						100.0	95.0	97.0					8																	19811639		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811639C>G		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.550C>G	8.37:g.19811639C>G	ENSP00000309757:p.Pro184Ala						p.P184A	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1020	+			184		P -> R (in LPL deficiency; Nijmegen; loss of activity).			B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.550C>G	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955102	0.73902	.	.	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.94184	-3.37;-3.37	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	M	0.85041	2.73	0.39799	D	0.972547	D	0.59767	0.986	P	0.62014	0.897	D	0.96197	0.9142	8	.	.	.	-13.5272	18.3732	0.90420	0.0:1.0:0.0:0.0	.	184	P06858	LIPL_HUMAN	A	108;184;108;170	ENSP00000428496:P108A;ENSP00000309757:P184A	.	P	+	1	0	LPL	19855919	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	5.708000	0.68377	2.941000	0.99782	0.655000	0.94253	CCA		0.458	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			10	72	0	0	0	1	0	10	72				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	4	41	0	0	0	1	0	4	41				
CIRBP	1153	broad.mit.edu	37	19	1271983	1271983	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:1271983G>A	ENST00000588030.1	+	6	695	c.435G>A	c.(433-435)cgG>cgA	p.R145R	CIRBP_ENST00000586773.1_Silent_p.R145R|CIRBP_ENST00000586472.1_Silent_p.R145R|CIRBP_ENST00000587896.1_Silent_p.R145R|CIRBP_ENST00000589710.1_Silent_p.R145R|CIRBP_ENST00000588230.1_Silent_p.R145R|CIRBP_ENST00000444172.2_Silent_p.R92R|CIRBP_ENST00000589686.1_Silent_p.R145R|CIRBP_ENST00000413636.2_Silent_p.R111R|CIRBP_ENST00000589660.1_Silent_p.R145R|CIRBP_ENST00000588090.1_Silent_p.R145R|CIRBP_ENST00000591935.1_Silent_p.R145R|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589235.1_Silent_p.R145R|CIRBP_ENST00000587323.1_Silent_p.R145R|CIRBP_ENST00000585630.1_Silent_p.R145R|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000320936.5_Silent_p.R145R			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	145	Gly-rich.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CTTGCAGCCGGAGTCAGAGTG	0.602																																						ENST00000444172.2																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(274-276)cgG>cgA		cold inducible RNA binding protein							128.0	108.0	115.0					19																	1271983		2203	4300	6503	SO:0001819	synonymous_variant	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1271983G>A	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.435G>A	19.37:g.1271983G>A						CIRBP_ENST00000591935.1_Silent_p.R145R|CIRBP_ENST00000588090.1_Silent_p.R145R|CIRBP_ENST00000586773.1_Silent_p.R145R|CIRBP_ENST00000413636.2_Silent_p.R111R|CIRBP_ENST00000586472.1_Silent_p.R145R|CIRBP_ENST00000587896.1_Silent_p.R145R|CIRBP_ENST00000320936.5_Silent_p.R145R|CIRBP_ENST00000585630.1_Silent_p.R145R|CIRBP_ENST00000587323.1_Silent_p.R145R|CIRBP_ENST00000589660.1_Silent_p.R145R|CIRBP_ENST00000589686.1_Silent_p.R145R|CIRBP_ENST00000589710.1_Silent_p.R145R|CIRBP_ENST00000588230.1_Silent_p.R145R|CIRBP_ENST00000588030.1_Silent_p.R145R|CIRBP_ENST00000589235.1_Silent_p.R145R	p.R92R			Q14011	CIRBP_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)	5	410	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	145			Gly-rich.		B3KT17|B4E2X2	Silent	SNP	ENST00000588030.1	37	c.276G>A	CCDS12059.1																																																																																				0.602	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280		17	72	0	0	0	1	0	17	72				
GBA2	57704	broad.mit.edu	37	9	35738153	35738153	+	Intron	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35738153G>A	ENST00000378103.3	-	15	2721				GBA2_ENST00000545786.1_Intron|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000378088.1_Missense_Mutation_p.P33S|GBA2_ENST00000378094.4_Intron	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGCGGCCTGGAGTCGAGGAA	0.532																																						ENST00000378088.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(97-99)Cca>Tca		glucosidase, beta (bile acid) 2							73.0	71.0	72.0					9																	35738153		2203	4300	6503	SO:0001627	intron_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35738153G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2198-4C>T	9.37:g.35738153G>A						GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000378103.3_Intron	p.P33S			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	479	-	all_epithelial(49;0.167)		255					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.97C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315308	0.01331	.	.	ENSG00000070610	ENST00000378088	.	.	.	5.8	2.93	0.34026	.	.	.	.	.	T	0.55401	0.1918	.	.	.	0.36324	D	0.85846	.	.	.	.	.	.	T	0.60697	-0.7212	5	0.87932	D	0	.	5.2023	0.15271	0.1704:0.0:0.6652:0.1644	.	.	.	.	S	33	.	ENSP00000367328:P33S	P	-	1	0	GBA2	35728153	0.725000	0.28048	0.183000	0.23137	0.479000	0.33129	1.280000	0.33202	0.355000	0.24131	0.655000	0.94253	CCA		0.532	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		7	34	0	0	0	1	0	7	34				
EEF2	1938	broad.mit.edu	37	19	3983151	3983151	+	Silent	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:3983151G>C	ENST00000309311.6	-	3	445	c.357C>G	c.(355-357)ctC>ctG	p.L119L	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	119	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTGACTCGGAGGGCAGCAG	0.617																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(355-357)ctC>ctG		eukaryotic translation elongation factor 2							88.0	89.0	89.0					19																	3983151		2203	4300	6503	SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3983151G>C	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.357C>G	19.37:g.3983151G>C							p.L119L	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	3	445	-		Hepatocellular(1079;0.137)	119					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.357C>G	CCDS12117.1																																																																																				0.617	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		7	57	0	0	0	1	0	7	57				
ARHGEF12	23365	broad.mit.edu	37	11	120347948	120347948	+	Missense_Mutation	SNP	G	G	A	rs371914919		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:120347948G>A	ENST00000397843.2	+	35	3552	c.3386G>A	c.(3385-3387)cGg>cAg	p.R1129Q	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1026Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1110Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1129	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTAATCTGTCGGATGGCTGCA	0.388			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3385-3387)cGg>cAg		Rho guanine nucleotide exchange factor (GEF) 12		G	GLN/ARG,GLN/ARG	1,3839		0,1,1919	84.0	79.0	81.0		3386,3329	3.3	1.0	11		81	0,8252		0,0,4126	no	missense,missense	ARHGEF12	NM_015313.2,NM_001198665.1	43,43	0,1,6045	AA,AG,GG		0.0,0.026,0.0083	benign,benign	1129/1545,1110/1526	120347948	1,12091	1920	4126	6046	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120347948G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3386G>A	11.37:g.120347948G>A	ENSP00000380942:p.Arg1129Gln					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1026Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1110Q	p.R1129Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	35	3552	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1129			PH.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3386G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049930	0.36181	2.6E-4	0.0	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.62105	0.05;0.05;0.05	5.23	3.3	0.37823	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.154397	0.29638	N	0.011592	T	0.23965	0.0580	N	0.00465	-1.465	0.28119	N	0.930705	B;B;B	0.20459	0.005;0.045;0.015	B;B;B	0.06405	0.0;0.002;0.001	T	0.19192	-1.0313	10	0.25106	T	0.35	-3.7606	7.9797	0.30177	0.353:0.0:0.647:0.0	.	1026;1110;1129	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	Q	1129;1110;1026	ENSP00000380942:R1129Q;ENSP00000349056:R1110Q;ENSP00000432984:R1026Q	ENSP00000349056:R1110Q	R	+	2	0	ARHGEF12	119853158	0.999000	0.42202	0.994000	0.49952	0.994000	0.84299	1.320000	0.33666	0.641000	0.30601	0.561000	0.74099	CGG		0.388	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		5	45	0	0	0	1	0	5	45				
PAPPA2	60676	broad.mit.edu	37	1	176709227	176709227	+	Missense_Mutation	SNP	G	G	A	rs368783359		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:176709227G>A	ENST00000367662.3	+	14	5210	c.4046G>A	c.(4045-4047)cGg>cAg	p.R1349Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1349					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1349P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCATCCCCACGGGTCGGCATC	0.522																																						ENST00000367662.3																			1	Substitution - Missense(1)	p.R1349P(1)	lung(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4045-4047)cGg>cAg		pappalysin 2		G	GLN/ARG	0,4076		0,0,2038	166.0	163.0	164.0		4046	3.6	0.6	1		164	1,8379		0,1,4189	no	missense	PAPPA2	NM_020318.2	43	0,1,6227	AA,AG,GG		0.0119,0.0,0.0080	benign	1349/1792	176709227	1,12455	2038	4190	6228	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709227G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4046G>A	1.37:g.176709227G>A	ENSP00000356634:p.Arg1349Gln						p.R1349Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			14	5210	+			1349					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4046G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413158	0.25465	0.0	1.19E-4	ENSG00000116183	ENST00000367662	T	0.01516	4.81	5.91	3.63	0.41609	.	0.664334	0.15667	N	0.250580	T	0.01627	0.0052	L	0.29908	0.895	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.45585	-0.9251	10	0.41790	T	0.15	-0.507	5.3577	0.16071	0.0:0.143:0.1665:0.6906	.	1349	Q9BXP8	PAPP2_HUMAN	Q	1349	ENSP00000356634:R1349Q	ENSP00000356634:R1349Q	R	+	2	0	PAPPA2	174975850	0.022000	0.18835	0.621000	0.29145	0.664000	0.39144	1.821000	0.39041	1.067000	0.40740	-0.262000	0.10625	CGG		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			12	99	0	0	0	1	0	12	99				
DYSF	8291	broad.mit.edu	37	2	71740879	71740879	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:71740879G>A	ENST00000258104.3	+	6	768	c.491G>A	c.(490-492)gGa>gAa	p.G164E	DYSF_ENST00000409762.1_Missense_Mutation_p.G195E|DYSF_ENST00000409366.1_Missense_Mutation_p.G165E|DYSF_ENST00000409651.1_Missense_Mutation_p.G196E|DYSF_ENST00000394120.2_Missense_Mutation_p.G165E|DYSF_ENST00000410020.3_Missense_Mutation_p.G196E|DYSF_ENST00000429174.2_Missense_Mutation_p.G164E|DYSF_ENST00000410041.1_Missense_Mutation_p.G196E|DYSF_ENST00000413539.2_Missense_Mutation_p.G195E|DYSF_ENST00000409744.1_Missense_Mutation_p.G165E|DYSF_ENST00000409582.3_Missense_Mutation_p.G195E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	164					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGACCAGGGACTCACTGGA	0.642																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(490-492)gGa>gAa		dysferlin							52.0	49.0	50.0					2																	71740879		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71740879G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.491G>A	2.37:g.71740879G>A	ENSP00000258104:p.Gly164Glu					DYSF_ENST00000409762.1_Missense_Mutation_p.G195E|DYSF_ENST00000409651.1_Missense_Mutation_p.G196E|DYSF_ENST00000409366.1_Missense_Mutation_p.G165E|DYSF_ENST00000394120.2_Missense_Mutation_p.G165E|DYSF_ENST00000413539.2_Missense_Mutation_p.G195E|DYSF_ENST00000410020.3_Missense_Mutation_p.G196E|DYSF_ENST00000410041.1_Missense_Mutation_p.G196E|DYSF_ENST00000409582.3_Missense_Mutation_p.G195E|DYSF_ENST00000409744.1_Missense_Mutation_p.G165E|DYSF_ENST00000429174.2_Missense_Mutation_p.G164E	p.G164E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			6	768	+			164					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.491G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752798	0.69648	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82619	-1.54;-1.55;-1.54;-1.63;-1.63;-1.54;-1.63;-1.63;-1.63;-1.54;-1.54	4.79	3.89	0.44902	.	0.138996	0.46758	D	0.000262	D	0.82604	0.5073	L	0.33485	1.01	0.32813	D	0.501647	D;D;D;B;D;D;D;B;D;B;B;B;B;B	0.76494	0.999;0.999;0.999;0.363;0.999;0.998;0.999;0.38;0.999;0.008;0.38;0.363;0.363;0.248	D;D;D;B;D;D;D;B;D;B;B;B;B;B	0.78314	0.986;0.986;0.986;0.281;0.979;0.986;0.991;0.205;0.986;0.012;0.228;0.228;0.281;0.146	T	0.81514	-0.0898	10	0.30078	T	0.28	-31.0769	6.2494	0.20837	0.0996:0.1908:0.7095:0.0	.	196;196;165;165;196;165;195;164;195;195;164;164;165;164	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	E	195;195;195;164;164;196;165;165;165;196;196	ENSP00000407046:G195E;ENSP00000387137:G195E;ENSP00000386547:G195E;ENSP00000398305:G164E;ENSP00000258104:G164E;ENSP00000386683:G196E;ENSP00000377678:G165E;ENSP00000386285:G165E;ENSP00000386512:G165E;ENSP00000386881:G196E;ENSP00000386617:G196E	ENSP00000258104:G164E	G	+	2	0	DYSF	71594387	0.579000	0.26725	1.000000	0.80357	0.988000	0.76386	0.608000	0.24223	2.387000	0.81309	0.549000	0.68633	GGA		0.642	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		4	34	0	0	0	1	0	4	34				
TAF5	6877	broad.mit.edu	37	10	105133311	105133311	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:105133311C>T	ENST00000369839.3	+	2	779	c.756C>T	c.(754-756)gtC>gtT	p.V252V	TAF5_ENST00000351396.4_Silent_p.V252V	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	252					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGGAGCTAGTCTACAATCAAC	0.393																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(754-756)gtC>gtT		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							96.0	89.0	91.0					10																	105133311		2203	4300	6503	SO:0001819	synonymous_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105133311C>T	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.756C>T	10.37:g.105133311C>T						TAF5_ENST00000351396.4_Silent_p.V252V	p.V252V	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	779	+		Colorectal(252;0.0747)|Breast(234;0.128)	252					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	c.756C>T	CCDS7547.1																																																																																				0.393	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			7	51	0	0	0	1	0	7	51				
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:202151270C>T	ENST00000432109.2	+	10	1582	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q524*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	465					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q482*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACAGATGCCTCAGCCTACTTT	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			1	Substitution - Nonsense(1)	p.Q482*(1)	breast(1)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1570-1572)Cag>Tag		caspase 8, apoptosis-related cysteine peptidase							205.0	182.0	190.0					2																	202151270		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202151270C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1393C>T	2.37:g.202151270C>T	ENSP00000412523:p.Gln465*	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Nonsense_Mutation_p.Q465*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q482*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q450*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q381*|CASP8_ENST00000392259.2_3'UTR	p.Q524*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			9	1766	+			465					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1570C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833399	0.50951	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.86	5.86	0.93980	.	0.478710	0.24200	N	0.040632	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	20.1818	0.98206	0.0:1.0:0.0:0.0	.	.	.	.	X	450;381;465;482;524;450;244	.	ENSP00000264274:Q381X	Q	+	1	0	CASP8	201859515	0.797000	0.28877	0.987000	0.45799	0.013000	0.08279	1.536000	0.36072	2.759000	0.94783	0.650000	0.86243	CAG		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		11	62	0	0	0	1	0	11	62				
IFT122	55764	broad.mit.edu	37	3	129183550	129183550	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:129183550C>T	ENST00000348417.2	+	7	566	c.489C>T	c.(487-489)ggC>ggT	p.G163G	IFT122_ENST00000431818.2_Silent_p.G13G|IFT122_ENST00000349441.2_Silent_p.G111G|IFT122_ENST00000507564.1_Silent_p.G214G|IFT122_ENST00000440957.2_Silent_p.G13G|IFT122_ENST00000504021.1_Silent_p.G116G|IFT122_ENST00000347300.2_Silent_p.G163G|IFT122_ENST00000296266.3_Silent_p.G214G	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	163					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACAAAAATGGCGAGGAGAAAG	0.507																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(640-642)ggC>ggT		intraflagellar transport 122 homolog (Chlamydomonas)							129.0	131.0	130.0					3																	129183550		2203	4300	6503	SO:0001819	synonymous_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129183550C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.489C>T	3.37:g.129183550C>T						IFT122_ENST00000507564.1_Silent_p.G214G|IFT122_ENST00000504021.1_Silent_p.G116G|IFT122_ENST00000440957.2_Silent_p.G13G|IFT122_ENST00000431818.2_Silent_p.G13G|IFT122_ENST00000349441.2_Silent_p.G111G|IFT122_ENST00000347300.2_Silent_p.G163G|IFT122_ENST00000348417.2_Silent_p.G163G	p.G214G	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			8	834	+			163					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	c.642C>T	CCDS3061.1																																																																																				0.507	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		31	117	0	0	0	1	0	31	117				
TSPAN18	90139	broad.mit.edu	37	11	44950696	44950696	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:44950696C>G	ENST00000520358.2	+	10	1129	c.714C>G	c.(712-714)atC>atG	p.I238M	TSPAN18_ENST00000340160.3_Missense_Mutation_p.I238M			Q96SJ8	TSN18_HUMAN	tetraspanin 18	238						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						TCGCCATGATCTTTGCCATGT	0.592																																						ENST00000340160.3																			0				endometrium(1)|large_intestine(6)|lung(3)	10						c.(712-714)atC>atG		tetraspanin 18							84.0	91.0	89.0					11																	44950696		2203	4299	6502	SO:0001583	missense	90139					integral to membrane		g.chr11:44950696C>G	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.714C>G	11.37:g.44950696C>G	ENSP00000429993:p.Ile238Met					TSPAN18_ENST00000520358.2_Missense_Mutation_p.I238M	p.I238M	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN			9	953	+			238					Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	c.714C>G	CCDS7910.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.332983	0.60853	.	.	ENSG00000157570	ENST00000520358;ENST00000340160	D;D	0.82526	-1.62;-1.62	4.95	4.04	0.47022	.	0.565615	0.20300	N	0.095058	T	0.81754	0.4889	M	0.74881	2.28	0.80722	D	1	B	0.31274	0.317	B	0.36885	0.235	T	0.80091	-0.1527	10	0.56958	D	0.05	.	6.3698	0.21475	0.0:0.6828:0.1524:0.1649	.	238	Q96SJ8	TSN18_HUMAN	M	238	ENSP00000429993:I238M;ENSP00000339820:I238M	ENSP00000339820:I238M	I	+	3	3	TSPAN18	44907272	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.522000	0.22909	1.217000	0.43442	0.561000	0.74099	ATC		0.592	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		20	90	0	0	0	1	0	20	90				
TMEM161B	153396	broad.mit.edu	37	5	87502921	87502921	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:87502921C>T	ENST00000296595.6	-	6	647	c.523G>A	c.(523-525)Gga>Aga	p.G175R	TMEM161B_ENST00000512429.1_Missense_Mutation_p.G164R|TMEM161B_ENST00000514135.1_Missense_Mutation_p.G175R|TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000509387.1_Missense_Mutation_p.G48R	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	175						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAAAAAAATCCAAAGGTGACA	0.318																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(523-525)Gga>Aga		transmembrane protein 161B							72.0	73.0	73.0					5																	87502921		2202	4297	6499	SO:0001583	missense	153396					integral to membrane		g.chr5:87502921C>T	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.523G>A	5.37:g.87502921C>T	ENSP00000296595:p.Gly175Arg					TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000509387.1_Missense_Mutation_p.G48R|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000514135.1_Missense_Mutation_p.G175R|TMEM161B_ENST00000512429.1_Missense_Mutation_p.G164R	p.G175R	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	6	647	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	175					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.523G>A	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847814	0.91277	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	4.98	4.98	0.66077	.	0.048149	0.85682	D	0.000000	T	0.74688	0.3749	M	0.66297	2.02	0.80722	D	1	D	0.56746	0.977	P	0.57057	0.812	T	0.78188	-0.2301	9	0.72032	D	0.01	-3.3377	18.618	0.91310	0.0:1.0:0.0:0.0	.	175	Q8NDZ6	T161B_HUMAN	R	175;175;164;175;48	.	ENSP00000296595:G175R	G	-	1	0	TMEM161B	87538677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.454000	0.82982	0.585000	0.79938	GGA		0.318	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		7	51	0	0	0	1	0	7	51				
SSH3	54961	broad.mit.edu	37	11	67075902	67075902	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:67075902C>A	ENST00000308127.4	+	10	1212	c.1034C>A	c.(1033-1035)gCa>gAa	p.A345E	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.A345E|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	345	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGGAACGCAGCAAACCTGGAG	0.647																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1033-1035)gCa>gAa		slingshot protein phosphatase 3							76.0	53.0	60.0					11																	67075902		2195	4293	6488	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67075902C>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1034C>A	11.37:g.67075902C>A	ENSP00000312081:p.Ala345Glu					SSH3_ENST00000376757.5_Missense_Mutation_p.A345E|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR	p.A345E	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1212	+			345			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.1034C>A	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937877	0.73557	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	T;T;T	0.60171	0.21;0.21;0.21	4.98	4.98	0.66077	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	D	0.000012	T	0.63663	0.2530	L	0.28344	0.845	0.58432	D	0.999992	D;P	0.63880	0.993;0.556	D;B	0.63033	0.91;0.407	T	0.67444	-0.5669	10	0.66056	D	0.02	-23.9377	17.1904	0.86878	0.0:1.0:0.0:0.0	.	199;345	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	E	345;345;97	ENSP00000312081:A345E;ENSP00000365948:A345E;ENSP00000433902:A97E	ENSP00000312081:A345E	A	+	2	0	SSH3	66832478	0.997000	0.39634	0.626000	0.29213	0.473000	0.32948	5.695000	0.68279	2.595000	0.87683	0.561000	0.74099	GCA		0.647	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		10	16	1	0	2.17888e-05	1	2.33221e-05	10	16				
SLC4A5	57835	broad.mit.edu	37	2	74531626	74531626	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:74531626G>A	ENST00000377634.4	-	7	660	c.261C>T	c.(259-261)atC>atT	p.I87I	SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000377632.1_Silent_p.I87I|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000423644.1_Silent_p.I87I|SLC4A5_ENST00000394019.2_Silent_p.I87I|SLC4A5_ENST00000346834.4_Silent_p.I87I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Silent_p.I87I					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGTCCTGCTGATAAGATCCA	0.597																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(259-261)atC>atT		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							126.0	109.0	115.0					2																	74531626		2203	4300	6503	SO:0001819	synonymous_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74531626G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.261C>T	2.37:g.74531626G>A						SLC4A5_ENST00000423644.1_Silent_p.I87I|SLC4A5_ENST00000377632.1_Silent_p.I87I|SLC4A5_ENST00000377634.4_Silent_p.I87I|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000357822.5_Silent_p.I87I|SLC4A5_ENST00000346834.4_Silent_p.I87I|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000358683.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR	p.I87I	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			7	658	-			87						Silent	SNP	ENST00000377634.4	37	c.261C>T	CCDS1936.1																																																																																				0.597	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			18	97	0	0	0	1	0	18	97				
ZNF518B	85460	broad.mit.edu	37	4	10446619	10446619	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:10446619G>C	ENST00000326756.3	-	3	1772	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	445					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTGCACACTAGAATTTGGCAT	0.328																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(1333-1335)tCt>tGt		zinc finger protein 518B																																				SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446619G>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1334C>G	4.37:g.10446619G>C	ENSP00000317614:p.Ser445Cys						p.S445C	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1772	-			445					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1334C>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425621	0.43020	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	5.1	3.21	0.36854	.	1.246760	0.05769	N	0.606399	T	0.02267	0.0070	L	0.36672	1.1	0.09310	N	1	P	0.51653	0.947	B	0.43916	0.436	T	0.43845	-0.9366	10	0.41790	T	0.15	-5.0593	3.0266	0.06092	0.0983:0.1806:0.5343:0.1869	.	445	Q9C0D4	Z518B_HUMAN	C	445	ENSP00000317614:S445C	ENSP00000317614:S445C	S	-	2	0	ZNF518B	10055717	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.906000	0.28517	1.478000	0.48253	0.655000	0.94253	TCT		0.328	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		8	74	0	0	0	1	0	8	74				
BCKDK	10295	broad.mit.edu	37	16	31121413	31121413	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:31121413C>T	ENST00000394951.1	+	6	1014	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Missense_Mutation_p.R131C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R131C|BCKDK_ENST00000287507.3_Missense_Mutation_p.R131C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	131					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GCTATATATCCGTGCCTTCCA	0.587																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(391-393)Cgt>Tgt		branched chain ketoacid dehydrogenase kinase							112.0	106.0	108.0					16																	31121413		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31121413C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.391C>T	16.37:g.31121413C>T	ENSP00000378405:p.Arg131Cys					BCKDK_ENST00000287507.3_Missense_Mutation_p.R131C|BCKDK_ENST00000219794.6_Missense_Mutation_p.R131C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R131C	p.R131C			O14874	BCKD_HUMAN			6	1014	+			131					A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.391C>T	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564676	0.65651	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.62	4.67	0.58626	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	T	0.64952	-0.6286	10	0.87932	D	0	-2.9808	13.5562	0.61761	0.0:0.9235:0.0:0.0765	.	131;131	Q96G95;O14874	.;BCKD_HUMAN	C	131	ENSP00000378405:R131C;ENSP00000219794:R131C;ENSP00000378404:R131C;ENSP00000287507:R131C	ENSP00000219794:R131C	R	+	1	0	BCKDK	31028914	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.928000	0.40104	1.376000	0.46267	0.561000	0.74099	CGT		0.587	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		16	73	0	0	0	1	0	16	73				
PWWP2B	170394	broad.mit.edu	37	10	134219519	134219519	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:134219519G>A	ENST00000305233.5	+	2	1574	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	505	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CTTGGTGGCCGGCGCGTGTTC	0.597																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(1513-1515)ccG>ccA		PWWP domain containing 2B							177.0	177.0	177.0					10																	134219519		2202	4300	6502	SO:0001819	synonymous_variant	170394							g.chr10:134219519G>A	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.1515G>A	10.37:g.134219519G>A						PWWP2B_ENST00000368609.4_Intron	p.P505P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	1574	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	505			PWWP.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.1515G>A	CCDS7667.2																																																																																				0.597	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		12	98	0	0	0	1	0	12	98				
C16orf89	146556	broad.mit.edu	37	16	5112513	5112513	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:5112513G>A	ENST00000315997.5	-	2	472	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	C16orf89_ENST00000350219.4_Missense_Mutation_p.R129C|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.R129C|C16orf89_ENST00000474471.3_Missense_Mutation_p.R91C|C16orf89_ENST00000472572.3_Missense_Mutation_p.R91C	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	91						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						ATCCCCACGCGCAGGCTCAGC	0.567																																						ENST00000315997.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(271-273)Cgc>Tgc		chromosome 16 open reading frame 89							55.0	59.0	58.0					16																	5112513		1956	4151	6107	SO:0001583	missense	146556					extracellular region		g.chr16:5112513G>A		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.271C>T	16.37:g.5112513G>A	ENSP00000324672:p.Arg91Cys					C16orf89_ENST00000422873.1_Missense_Mutation_p.R129C|C16orf89_ENST00000474471.3_Missense_Mutation_p.R91C|C16orf89_ENST00000350219.4_Missense_Mutation_p.R129C|C16orf89_ENST00000472572.3_Missense_Mutation_p.R91C|ALG1_ENST00000588623.1_Intron	p.R91C	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN			2	472	-			91					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.271C>T	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929105	0.34096	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	4.98	2.75	0.32379	.	0.544614	0.18109	N	0.151421	T	0.55832	0.1945	M	0.74881	2.28	0.37113	D	0.900426	D;D	0.89917	1.0;1.0	D;D	0.67231	0.939;0.95	T	0.65129	-0.6243	10	0.87932	D	0	-22.8605	10.9876	0.47530	0.0:0.0:0.6506:0.3494	.	91;129	Q6UX73;G3V0F0	CP089_HUMAN;.	C	91;91;91;129;129;91	ENSP00000417158:R91C;ENSP00000420566:R91C;ENSP00000390402:R129C;ENSP00000283478:R129C;ENSP00000324672:R91C	ENSP00000324672:R91C	R	-	1	0	C16orf89	5052514	0.034000	0.19679	0.758000	0.31321	0.021000	0.10359	2.098000	0.41757	1.084000	0.41184	0.462000	0.41574	CGC		0.567	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		12	66	0	0	0	1	0	12	66				
SYNE1	23345	broad.mit.edu	37	6	152583231	152583231	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:152583231T>C	ENST00000367255.5	-	101	19509	c.18908A>G	c.(18907-18909)cAt>cGt	p.H6303R	SYNE1_ENST00000423061.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H6303R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000356820.4_Missense_Mutation_p.H827R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H5915R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6303					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAATTCTTGATGTAGGCTTTC	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(18907-18909)cAt>cGt		spectrin repeat containing, nuclear envelope 1							145.0	134.0	138.0					6																	152583231		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152583231T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18908A>G	6.37:g.152583231T>C	ENSP00000356224:p.His6303Arg	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.H5915R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000356820.4_Missense_Mutation_p.H827R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H6232R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H6303R	p.H6303R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	101	19509	-		Ovarian(120;0.0955)	6303					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18908A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.85	2.062449	0.36373	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.54675	0.66;0.66;0.56;0.66;0.78;2.68	5.96	4.81	0.61882	.	0.305729	0.28052	N	0.016786	T	0.20577	0.0495	L	0.41236	1.265	0.28113	N	0.930911	B;B;B	0.17465	0.007;0.007;0.022	B;B;B	0.13407	0.004;0.004;0.009	T	0.13415	-1.0510	10	0.13108	T	0.6	.	11.7801	0.52008	0.0:0.068:0.0:0.932	.	6303;6303;6232	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6303;6232;6303;6232;5915;827	ENSP00000356224:H6303R;ENSP00000396024:H6232R;ENSP00000265368:H6303R;ENSP00000390975:H6232R;ENSP00000341887:H5915R;ENSP00000349276:H827R	ENSP00000265368:H6303R	H	-	2	0	SYNE1	152624924	1.000000	0.71417	0.884000	0.34674	0.955000	0.61496	3.594000	0.54008	1.093000	0.41377	0.528000	0.53228	CAT		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	48	0	0	0	1	0	7	48				
GBA2	57704	broad.mit.edu	37	9	35738164	35738164	+	Intron	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35738164G>A	ENST00000378103.3	-	15	2721				GBA2_ENST00000545786.1_Intron|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000378088.1_Missense_Mutation_p.S29F|GBA2_ENST00000378094.4_Intron	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCGAGGAAGAGAAAAATAA	0.527																																						ENST00000378088.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(85-87)tCt>tTt		glucosidase, beta (bile acid) 2							76.0	76.0	76.0					9																	35738164		2203	4300	6503	SO:0001627	intron_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35738164G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2198-15C>T	9.37:g.35738164G>A						GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000467252.1_Intron|GBA2_ENST00000378103.3_Intron	p.S29F			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		1	468	-	all_epithelial(49;0.167)		0					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.86C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267763	0.23136	.	.	ENSG00000070610	ENST00000378088	.	.	.	5.54	0.312	0.15837	.	.	.	.	.	T	0.39306	0.1073	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37865	-0.9687	5	0.66056	D	0.02	.	6.5082	0.22206	0.3353:0.1165:0.5481:0.0	.	.	.	.	F	29	.	ENSP00000367328:S29F	S	-	2	0	GBA2	35728164	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.347000	0.07750	0.318000	0.23185	0.655000	0.94253	TCT		0.527	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		9	46	0	0	0	1	0	9	46				
LAMB2	3913	broad.mit.edu	37	3	49168546	49168546	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49168546C>T	ENST00000418109.1	-	8	916	c.752G>A	c.(751-753)cGt>cAt	p.R251H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R251H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	251	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTGTGTAGACGAGTCAGGTT	0.582																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(751-753)cGt>cAt		laminin, beta 2 (laminin S)							119.0	110.0	113.0					3																	49168546		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168546C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.752G>A	3.37:g.49168546C>T	ENSP00000388325:p.Arg251His					LAMB2_ENST00000305544.4_Missense_Mutation_p.R251H	p.R251H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	8	916	-			251			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.752G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170097	0.57584	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.80393	-1.37;-1.37;-1.37	4.75	4.75	0.60458	Laminin, N-terminal (3);	0.137715	0.46145	D	0.000315	D	0.86887	0.6041	M	0.81497	2.545	0.33718	D	0.616616	D	0.71674	0.998	D	0.63793	0.918	D	0.90171	0.4235	10	0.87932	D	0	.	7.2992	0.26411	0.0:0.8202:0.0:0.1798	.	251	P55268	LAMB2_HUMAN	H	251;251;102	ENSP00000388325:R251H;ENSP00000307156:R251H;ENSP00000444751:R102H	ENSP00000307156:R251H	R	-	2	0	LAMB2	49143550	0.999000	0.42202	1.000000	0.80357	0.683000	0.39861	1.794000	0.38774	2.626000	0.88956	0.651000	0.88453	CGT		0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		11	56	0	0	0	1	0	11	56				
GMDS	2762	broad.mit.edu	37	6	1742748	1742748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:1742748G>A	ENST00000380815.4	-	8	1113	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	GMDS_ENST00000530927.1_Missense_Mutation_p.R252W	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	282					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACAAATTCCCGGACACTATGG	0.453																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(844-846)Cgg>Tgg		GDP-mannose 4,6-dehydratase							135.0	120.0	125.0					6																	1742748		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1742748G>A	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.844C>T	6.37:g.1742748G>A	ENSP00000370194:p.Arg282Trp					GMDS_ENST00000530927.1_Missense_Mutation_p.R252W	p.R282W	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	8	1113	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	282					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.844C>T	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006529	0.54361	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.51	5.51	0.81932	.	0.061008	0.64402	D	0.000004	D	0.91334	0.7267	H	0.99379	4.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94920	0.8072	9	0.87932	D	0	-4.5438	19.4328	0.94778	0.0:0.0:1.0:0.0	.	282	O60547	GMDS_HUMAN	W	252;282	.	ENSP00000370194:R282W	R	-	1	2	GMDS	1687747	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	5.990000	0.70595	2.584000	0.87258	0.563000	0.77884	CGG		0.453	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			15	69	0	0	0	1	0	15	69				
ARHGAP31	57514	broad.mit.edu	37	3	119101981	119101981	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:119101981C>T	ENST00000264245.4	+	6	1122	c.590C>T	c.(589-591)gCa>gTa	p.A197V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	197	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCTTCCTTGCAGTCCGGGTC	0.453																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(589-591)gCa>gTa		Rho GTPase activating protein 31							136.0	138.0	137.0					3																	119101981		2021	4178	6199	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119101981C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.590C>T	3.37:g.119101981C>T	ENSP00000264245:p.Ala197Val						p.A197V	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			6	1122	+			197			Rho-GAP.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.590C>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488964	0.84962	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.11277	2.79	5.65	5.65	0.86999	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.072572	0.53938	D	0.000058	T	0.13200	0.0320	L	0.41079	1.255	0.44345	D	0.997234	B	0.33120	0.398	B	0.39562	0.303	T	0.01596	-1.1316	10	0.62326	D	0.03	.	12.1347	0.53964	0.2598:0.7402:0.0:0.0	.	197	Q2M1Z3	RHG31_HUMAN	V	197	ENSP00000264245:A197V	ENSP00000264245:A197V	A	+	2	0	ARHGAP31	120584671	1.000000	0.71417	0.936000	0.37596	0.958000	0.62258	4.941000	0.63540	2.941000	0.99782	0.655000	0.94253	GCA		0.453	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			24	110	0	0	0	1	0	24	110				
VNN3	55350	broad.mit.edu	37	6	133055617	133055617	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:133055617A>T	ENST00000417437.2	-	1	214	c.215T>A	c.(214-216)gTa>gAa	p.V72E	VNN3_ENST00000367927.5_Splice_Site|VNN3_ENST00000414302.2_Splice_Site|VNN3_ENST00000425515.2_Splice_Site|VNN3_ENST00000207771.3_Splice_Site|VNN3_ENST00000509351.1_Splice_Site|VNN3_ENST00000519686.2_Splice_Site|VNN3_ENST00000427187.2_Splice_Site|VNN3_ENST00000450865.2_Splice_Site|VNN3_ENST00000392394.2_Splice_Site|VNN3_ENST00000423615.2_Splice_Site|VNN3_ENST00000275223.3_Splice_Site|VNN3_ENST00000392393.3_Splice_Site			Q9NY84	VNN3_HUMAN	vanin 3	70	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		AAAGGGTAATACCTGCTTCGC	0.403																																						ENST00000417437.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(214-216)gTa>gAa		vanin 3							89.0	88.0	89.0					6																	133055617		2203	4300	6503	SO:0001583	missense	55350							g.chr6:133055617A>T	AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000417437.2:c.215T>A	6.37:g.133055617A>T	ENSP00000463583:p.Val72Glu					VNN3_ENST00000427187.2_Splice_Site|VNN3_ENST00000425515.2_Splice_Site|VNN3_ENST00000392393.3_Splice_Site|VNN3_ENST00000367927.5_Splice_Site|VNN3_ENST00000423615.2_Splice_Site|VNN3_ENST00000275223.3_Splice_Site|VNN3_ENST00000519686.2_Splice_Site|VNN3_ENST00000509351.1_Splice_Site|VNN3_ENST00000450865.2_Splice_Site|VNN3_ENST00000414302.2_Splice_Site|VNN3_ENST00000392394.2_Splice_Site|VNN3_ENST00000207771.3_Splice_Site	p.V72E						OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)	1	214	-	Breast(56;0.135)							B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	ENST00000417437.2	37	c.215T>A		.	.	.	.	.	.	.	.	.	.	A	16.94	3.260187	0.59321	.	.	ENSG00000093134	ENST00000367927;ENST00000425515;ENST00000207771;ENST00000414302;ENST00000423615;ENST00000427187;ENST00000275223;ENST00000519686;ENST00000392393;ENST00000450865;ENST00000392394	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9829	0.71324	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VNN3	133097310	1.000000	0.71417	0.464000	0.27143	0.877000	0.50540	5.058000	0.64300	1.961000	0.56991	0.378000	0.23410	.		0.403	VNN3-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000360624.2	NR_028290		4	60	0	0	0	1	0	4	60				
HELB	92797	broad.mit.edu	37	12	66703855	66703855	+	Missense_Mutation	SNP	G	G	A	rs144350290		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:66703855G>A	ENST00000247815.4	+	4	1206	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	383					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGTCGATGTCGAAAAGGTGCT	0.418																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1147-1149)Gaa>Aaa		helicase (DNA) B		G	LYS/GLU	0,4406		0,0,2203	196.0	190.0	192.0		1147	3.8	0.0	12	dbSNP_134	192	2,8598	2.2+/-6.3	0,2,4298	no	missense	HELB	NM_033647.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	383/1088	66703855	2,13004	2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703855G>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1147G>A	12.37:g.66703855G>A	ENSP00000247815:p.Glu383Lys						p.E383K	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1206	+			383					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1147G>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199373	0.06219	0.0	2.33E-4	ENSG00000127311	ENST00000247815	T	0.55052	0.54	6.17	3.78	0.43462	.	0.433052	0.25436	N	0.030682	T	0.14056	0.0340	N	0.00159	-1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28106	-1.0054	9	.	.	.	-10.1228	8.9856	0.35992	0.8087:0.1267:0.0646:0.0	.	383	Q8NG08	HELB_HUMAN	K	383	ENSP00000247815:E383K	.	E	+	1	0	HELB	64990122	0.007000	0.16637	0.002000	0.10522	0.027000	0.11550	1.910000	0.39927	0.546000	0.28920	-0.238000	0.12139	GAA		0.418	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			24	216	0	0	0	1	0	24	216				
AHNAK	79026	broad.mit.edu	37	11	62294685	62294685	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:62294685C>G	ENST00000378024.4	-	5	7478	c.7204G>C	c.(7204-7206)Gga>Cga	p.G2402R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2402					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACCTCTCCTTTTGCCTTG	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7204-7206)Gga>Cga		AHNAK nucleoprotein							71.0	74.0	73.0					11																	62294685		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294685C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7204G>C	11.37:g.62294685C>G	ENSP00000367263:p.Gly2402Arg					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G2402R	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7478	-		Melanoma(852;0.155)	2402					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7204G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.427398	0.43122	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.06142	3.34	3.7	3.7	0.42460	.	.	.	.	.	T	0.28665	0.0710	M	0.88031	2.925	0.44547	D	0.997508	D	0.89917	1.0	D	0.91635	0.999	T	0.15983	-1.0418	9	0.48119	T	0.1	.	13.6816	0.62489	0.0:1.0:0.0:0.0	.	2402	Q09666	AHNK_HUMAN	R	491;2402	ENSP00000367263:G2402R	ENSP00000244934:G491R	G	-	1	0	AHNAK	62051261	0.215000	0.23574	0.951000	0.38953	0.480000	0.33159	3.345000	0.52182	1.812000	0.52913	0.473000	0.43528	GGA		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		22	101	0	0	0	1	0	22	101				
RARG	5916	broad.mit.edu	37	12	53609533	53609533	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:53609533G>A	ENST00000425354.2	-	4	717	c.230C>T	c.(229-231)tCg>tTg	p.S77L	RARG_ENST00000543726.1_Intron|RARG_ENST00000327550.3_Missense_Mutation_p.S5L|RARG_ENST00000543762.1_Intron|RARG_ENST00000338561.5_Missense_Mutation_p.S66L|RARG_ENST00000394426.1_Missense_Mutation_p.S77L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	77	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGCGAGGGCGAGCTGGGCAC	0.617																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(229-231)tCg>tTg		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						87.0	73.0	78.0					12																	53609533		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53609533G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.230C>T	12.37:g.53609533G>A	ENSP00000388510:p.Ser77Leu					RARG_ENST00000394426.1_Missense_Mutation_p.S77L|RARG_ENST00000338561.5_Missense_Mutation_p.S66L|RARG_ENST00000327550.3_Missense_Mutation_p.S5L|RARG_ENST00000543726.1_Intron|RARG_ENST00000543762.1_Intron	p.S77L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			4	717	-			77			Modulating.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.230C>T	CCDS8850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.461854|4.461854	0.84425|0.84425	.|.	.|.	ENSG00000172819|ENSG00000172819	ENST00000550265|ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561	.|D;D;D;D	.|0.92858	.|-3.0;-3.0;-3.12;-2.97	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88429|0.88429	0.6434|0.6434	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D|P;P	0.60160|0.50066	0.987|0.931;0.607	B|B;B	0.40101|0.38921	0.319|0.285;0.068	D|D	0.86917|0.86917	0.2064|0.2064	8|10	0.51188|0.14252	T|T	0.08|0.57	.|.	16.0377|16.0377	0.80642|0.80642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105|77;66	F8VR45|P13631;F1D8P1	.|RARG_HUMAN;.	C|L	105|77;77;5;66	.|ENSP00000388510:S77L;ENSP00000377947:S77L;ENSP00000332695:S5L;ENSP00000343698:S66L	ENSP00000446565:R105C|ENSP00000332695:S5L	R|S	-|-	1|2	0|0	RARG|RARG	51895800|51895800	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.995000|0.995000	0.86356|0.86356	9.540000|9.540000	0.98080|0.98080	2.385000|2.385000	0.81259|0.81259	0.467000|0.467000	0.42956|0.42956	CGC|TCG		0.617	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		8	75	0	0	0	1	0	8	75				
C1orf174	339448	broad.mit.edu	37	1	3807459	3807459	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:3807459C>T	ENST00000361605.3	-	3	390	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	98						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACTGCCTTCAGCAAACTCA	0.522																																						ENST00000361605.3																			0				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11						c.(292-294)Gaa>Aaa		chromosome 1 open reading frame 174							61.0	62.0	62.0					1																	3807459		2203	4300	6503	SO:0001583	missense	339448							g.chr1:3807459C>T	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.292G>A	1.37:g.3807459C>T	ENSP00000355306:p.Glu98Lys					C1orf174_ENST00000486765.1_5'UTR	p.E98K	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	3	390	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	98					A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	c.292G>A	CCDS53.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646196	0.29246	.	.	ENSG00000198912	ENST00000361605	T	0.06449	3.3	5.16	4.25	0.50352	.	1.149820	0.06190	N	0.681250	T	0.03695	0.0105	N	0.03154	-0.405	0.09310	N	1	B	0.24721	0.11	B	0.20184	0.028	T	0.41016	-0.9532	10	0.31617	T	0.26	-5.928	8.1991	0.31413	0.0:0.8162:0.0:0.1838	.	98	Q8IYL3	CA174_HUMAN	K	98	ENSP00000355306:E98K	ENSP00000355306:E98K	E	-	1	0	C1orf174	3797319	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.581000	0.23819	1.174000	0.42811	0.563000	0.77884	GAA		0.522	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		13	62	0	0	0	1	0	13	62				
GOLGA8I	283796	broad.mit.edu	37	15	23261911	23261911	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:23261911G>C	ENST00000450802.3	+	12	1121	c.1023G>C	c.(1021-1023)gaG>gaC	p.E341D	RN7SL495P_ENST00000461817.2_RNA|AC091565.1_ENST00000459619.1_RNA	NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1	A6NC78	GOG8I_HUMAN	golgin A8 family, member I	341						Golgi apparatus (GO:0005794)|membrane (GO:0016020)											GACAAGAAGAGAGGATTCGGG	0.567																																						ENST00000450802.3																			0											c.(1021-1023)gaG>gaC																																						SO:0001583	missense	283796							g.chr15:23261911G>C	AK093104		15q11.2	2013-01-17	2012-10-05	2012-10-05	ENSG00000153666	ENSG00000277561			26660	other	unknown	"""FLJ35785"""		"""golgi autoantigen, golgin subfamily a, 9 pseudogene"", ""golgin A9, pseudogene"", ""golgin A8 family, member I, pseudogene"""	GOLGA9P, GOLGA8IP			Standard	NR_024074		Approved	FLJ35785	uc001yvh.1	A6NC78	OTTHUMG00000129149	ENST00000450802.3:c.1023G>C	15.37:g.23261911G>C	ENSP00000399637:p.Glu341Asp						p.E341D							12	1121	+									Missense_Mutation	SNP	ENST00000450802.3	37	c.1023G>C		.	.	.	.	.	.	.	.	.	.	.	13.89	2.372881	0.42105	.	.	ENSG00000153666	ENST00000450802	D	0.90261	-2.64	0.83	0.83	0.18854	.	.	.	.	.	D	0.93307	0.7867	.	.	.	.	.	.	D	0.69078	0.997	D	0.76071	0.987	D	0.92130	0.5711	7	0.51188	T	0.08	.	7.6315	0.28243	0.0:0.0:1.0:0.0	.	260	Q8NA68	.	D	341	ENSP00000399637:E341D	ENSP00000399637:E341D	E	+	3	2	GOLGA8IP	20813352	1.000000	0.71417	0.014000	0.15608	0.168000	0.22595	2.870000	0.48451	0.775000	0.33450	0.064000	0.15345	GAG		0.567	GOLGA8I-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251213.2	NR_024074		8	58	0	0	0	1	0	8	58				
WASF2	10163	broad.mit.edu	37	1	27744792	27744792	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:27744792G>T	ENST00000430629.2	-	4	612	c.397C>A	c.(397-399)Ctc>Atc	p.L133I	WASF2_ENST00000536657.1_Missense_Mutation_p.L133I	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	133					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGATTGTTGAGAGGGGGAGGA	0.423																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(397-399)Ctc>Atc		WAS protein family, member 2							97.0	94.0	95.0					1																	27744792		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27744792G>T	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.397C>A	1.37:g.27744792G>T	ENSP00000396211:p.Leu133Ile					WASF2_ENST00000536657.1_Missense_Mutation_p.L133I	p.L133I	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	4	612	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	133					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.397C>A	CCDS304.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523753	0.64747	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.53423	0.62;0.62	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.91300	3.195	0.80722	D	1	D;D	0.63880	0.96;0.993	D;D	0.83275	0.967;0.996	T	0.80246	-0.1462	10	0.49607	T	0.09	-2.7705	18.7332	0.91744	0.0:0.0:1.0:0.0	.	133;133	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	I	133	ENSP00000396211:L133I;ENSP00000439883:L133I	ENSP00000396211:L133I	L	-	1	0	WASF2	27617379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.519000	0.84933	0.655000	0.94253	CTC		0.423	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		11	63	1	0	0.0692343	1	0.0694747	11	63				
TOMM20	9804	broad.mit.edu	37	1	235292010	235292010	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:235292010G>A	ENST00000366607.4	-	1	241	c.21C>T	c.(19-21)gcC>gcT	p.A7A	SNORA14B_ENST00000384452.1_RNA|RBM34_ENST00000495224.1_5'Flank	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	7					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			CGGCGGCGATGGCGCTGTTCC	0.612																																						ENST00000366607.4																			0				lung(2)|prostate(1)	3						c.(19-21)gcC>gcT		translocase of outer mitochondrial membrane 20 homolog (yeast)							101.0	103.0	103.0					1																	235292010		2203	4300	6503	SO:0001819	synonymous_variant	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235292010G>A		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type II"""	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.21C>T	1.37:g.235292010G>A							p.A7A	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		1	241	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	7					A8K195|Q498B3|Q6IBT4	Silent	SNP	ENST00000366607.4	37	c.21C>T	CCDS1603.1																																																																																				0.612	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765		21	111	0	0	0	1	0	21	111				
PHACTR1	221692	broad.mit.edu	37	6	13206093	13206093	+	Silent	SNP	G	G	A	rs369125089		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:13206093G>A	ENST00000379350.1	+	7	840	c.711G>A	c.(709-711)tcG>tcA	p.S237S	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.S237S|PHACTR1_ENST00000457702.2_Silent_p.S92S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGAAACTGTCGCCTCCGCTAC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18887	0.0		0.0	False		,,,				2504	0.0					ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(709-711)tcG>tcA		phosphatase and actin regulator 1		G	,	1,3941		0,1,1970	58.0	62.0	60.0		711,711	-0.2	1.0	6		60	1,8315		0,1,4157	no	coding-synonymous,coding-synonymous	PHACTR1	NM_001242648.1,NM_030948.2	,	0,2,6127	AA,AG,GG		0.012,0.0254,0.0163	,	237/581,237/581	13206093	2,12256	1971	4158	6129	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206093G>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.711G>A	6.37:g.13206093G>A						PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Silent_p.S92S|PHACTR1_ENST00000332995.7_Silent_p.S237S	p.S237S			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	840	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	237					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37	c.711G>A		.	.	.	.	.	.	.	.	.	.	G	9.818	1.185036	0.21870	2.54E-4	1.2E-4	ENSG00000112137	ENST00000415087	.	.	.	5.15	-0.159	0.13379	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	-6.1141	0.5462	0.00654	0.3531:0.1244:0.2841:0.2384	.	.	.	.	H	72	.	.	R	+	2	0	PHACTR1	13314072	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.551000	0.23361	0.068000	0.16574	0.561000	0.74099	CGC		0.572	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		11	72	0	0	0	1	0	11	72				
THPO	7066	broad.mit.edu	37	3	184090793	184090793	+	Silent	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:184090793G>C	ENST00000204615.7	-	6	784	c.570C>G	c.(568-570)ctC>ctG	p.L190L	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Silent_p.L186L|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	190					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGTTCAGTGTGAGGACTAGAG	0.577																																						ENST00000204615.7																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(568-570)ctC>ctG		thrombopoietin							82.0	85.0	84.0					3																	184090793		2203	4300	6503	SO:0001819	synonymous_variant	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090793G>C		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.570C>G	3.37:g.184090793G>C						EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000445696.2_Silent_p.L186L	p.L190L	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	784	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		190					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Silent	SNP	ENST00000204615.7	37	c.570C>G	CCDS3265.1																																																																																				0.577	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460		32	67	0	0	0	1	0	32	67				
ADAMTS8	11095	broad.mit.edu	37	11	130281428	130281428	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:130281428C>T	ENST00000257359.6	-	6	2340	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	545	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAACTGTACTCCTCCTCCACA	0.587																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1633-1635)gGa>gAa		ADAM metallopeptidase with thrombospondin type 1 motif, 8							77.0	82.0	81.0					11																	130281428		2017	4161	6178	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130281428C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1634G>A	11.37:g.130281428C>T	ENSP00000257359:p.Gly545Glu						p.G545E	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	6	2340	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	545			TSP type-1 1.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1634G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255861	0.95336	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.83673	-1.75	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.97623	1.0137	10	0.87932	D	0	.	19.924	0.97098	0.0:1.0:0.0:0.0	.	545;26	Q9UP79;B3KVX9	ATS8_HUMAN;.	E	545;574	ENSP00000257359:G545E	ENSP00000257359:G545E	G	-	2	0	ADAMTS8	129786638	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	7.445000	0.80570	2.790000	0.95986	0.591000	0.81541	GGA		0.587	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		9	59	0	0	0	1	0	9	59				
PPIP5K2	23262	broad.mit.edu	37	5	102490547	102490547	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:102490547G>C	ENST00000358359.3	+	13	1812	c.1303G>C	c.(1303-1305)Gat>Cat	p.D435H	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.D435H|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.D435H|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	435	Polyphosphoinositide-binding domain.				inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAAGTGCTAGATATTGCACG	0.279																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1303-1305)Gat>Cat		diphosphoinositol pentakisphosphate kinase 2							55.0	54.0	54.0					5																	102490547		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102490547G>C	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1303G>C	5.37:g.102490547G>C	ENSP00000351126:p.Asp435His					PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.D435H|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.D435H	p.D435H			O43314	VIP2_HUMAN			13	1876	+			435					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.1303G>C		.	.	.	.	.	.	.	.	.	.	G	23.3	4.398336	0.83120	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15952	2.38;2.38;2.38	4.84	4.84	0.62591	.	0.162464	0.40818	N	0.001004	T	0.47600	0.1454	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.989;0.973;0.996	T	0.55451	-0.8139	10	0.87932	D	0	.	18.2753	0.90081	0.0:0.0:1.0:0.0	.	357;435;435	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	H	435;357;435;435;435	ENSP00000313070:D435H;ENSP00000351126:D435H;ENSP00000416016:D435H	ENSP00000313070:D435H	D	+	1	0	PPIP5K2	102518446	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	9.766000	0.98957	2.368000	0.80403	0.655000	0.94253	GAT		0.279	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		8	55	0	0	0	1	0	8	55				
MYH6	4624	broad.mit.edu	37	14	23855643	23855643	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:23855643G>A	ENST00000356287.3	-	32	4869	c.4840C>T	c.(4840-4842)Ctg>Ttg	p.L1614L	MYH6_ENST00000405093.3_Silent_p.L1614L|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1614					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCACCCTCAGGACCTCGTTG	0.602																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4840-4842)Ctg>Ttg		myosin, heavy chain 6, cardiac muscle, alpha							165.0	152.0	156.0					14																	23855643		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855643G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4840C>T	14.37:g.23855643G>A						MYH6_ENST00000356287.3_Silent_p.L1614L	p.L1614L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4910	-	all_cancers(95;2.54e-05)		1614					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4840C>T	CCDS9600.1																																																																																				0.602	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			25	140	0	0	0	1	0	25	140				
CHST6	4166	broad.mit.edu	37	16	75513163	75513163	+	Silent	SNP	G	G	C	rs529839563	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:75513163G>C	ENST00000332272.4	-	3	743	c.564C>G	c.(562-564)ctC>ctG	p.L188L	CHST6_ENST00000390664.2_Silent_p.L188L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	188					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGGGTCGCTGAGCAGCGGGT	0.692																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(562-564)ctC>ctG		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							47.0	48.0	48.0					16																	75513163		2196	4300	6496	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513163G>C	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.564C>G	16.37:g.75513163G>C						CHST6_ENST00000390664.2_Silent_p.L188L|RP11-77K12.4_ENST00000530512.3_RNA	p.L188L	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	743	-			188					D3DUK3	Silent	SNP	ENST00000332272.4	37	c.564C>G	CCDS10918.1																																																																																				0.692	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		11	61	0	0	0	1	0	11	61				
ST8SIA5	29906	broad.mit.edu	37	18	44260196	44260196	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr18:44260196C>T	ENST00000315087.7	-	7	1600	c.940G>A	c.(940-942)Gag>Aag	p.E314K	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E350K|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E283K	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	314					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGCACCTCCTCACAGAGCTCC	0.627																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(940-942)Gag>Aag		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							105.0	108.0	107.0					18																	44260196		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260196C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.940G>A	18.37:g.44260196C>T	ENSP00000321343:p.Glu314Lys					ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E350K|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.E283K	p.E314K	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1600	-			314					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.940G>A	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218189	0.95104	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.32515	1.45;1.45;1.45	5.51	4.62	0.57501	.	0.055110	0.64402	D	0.000001	T	0.42291	0.1196	M	0.72118	2.19	0.80722	D	1	P;P;P	0.46952	0.887;0.792;0.849	B;P;B	0.46718	0.43;0.525;0.438	T	0.42068	-0.9473	10	0.46703	T	0.11	-9.2946	16.1101	0.81259	0.0:0.8659:0.1341:0.0	.	283;350;314	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	K	314;350;283	ENSP00000321343:E314K;ENSP00000445492:E350K;ENSP00000443683:E283K	ENSP00000321343:E314K	E	-	1	0	ST8SIA5	42514194	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.981000	0.56902	1.282000	0.44496	0.561000	0.74099	GAG		0.627	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		15	96	0	0	0	1	0	15	96				
MDGA2	161357	broad.mit.edu	37	14	47426671	47426671	+	Silent	SNP	G	G	A	rs368219229		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:47426671G>A	ENST00000399232.2	-	9	2152	c.1788C>T	c.(1786-1788)taC>taT	p.Y596Y	MDGA2_ENST00000439988.3_Silent_p.Y665Y|MDGA2_ENST00000426342.1_Silent_p.Y367Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y|SNORA25_ENST00000515926.1_RNA	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTCACAGCGTACTCTGTGT	0.443																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1099-1101)taC>taT		MAM domain containing glycosylphosphatidylinositol anchor 2		G	,	0,3798		0,0,1899	98.0	96.0	97.0		1995,1101	2.7	1.0	14		97	1,8243		0,1,4121	no	coding-synonymous,coding-synonymous	MDGA2	NM_001113498.2,NM_182830.3	,	0,1,6020	AA,AG,GG		0.0121,0.0,0.0083	,	665/1026,367/728	47426671	1,12041	1899	4122	6021	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426671G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1788C>T	14.37:g.47426671G>A						MDGA2_ENST00000439988.2_Silent_p.Y596Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000399232.2_Silent_p.Y665Y	p.Y367Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1847	-			596			Ig-like 4.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1101C>T																																																																																					0.443	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		14	56	0	0	0	1	0	14	56				
HLA-DQB1	3119	broad.mit.edu	37	6	32629142	32629142	+	Missense_Mutation	SNP	G	G	A	rs9273626		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:32629142G>A	ENST00000399084.1	-	5	932	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.R252C|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.R252C|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Intron			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	252			H -> R (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12 and allele DQB1*06:36; dbSNP:rs1140342).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	CTCCTTTGACGGATGATAAGG	0.557									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																												Esophageal Squamous(151;720 1825 15000 40336 43415)	ENST00000399084.1																			0				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(754-756)Cgt>Tgt		major histocompatibility complex, class II, DQ beta 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						30.0	27.0	28.0					6																	32629142		1988	3982	5970	SO:0001583	missense	3119	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32629142G>A		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.754C>T	6.37:g.32629142G>A	ENSP00000382034:p.Arg252Cys					HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.R252C|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.R252C	p.R252C			P01920	DQB1_HUMAN			5	932	-			252		H -> R (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:04, allele DQB1*06:09, allele DQB1*06:12 and allele DQB1*06:36; dbSNP:rs1140342).			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	ENST00000399084.1	37	c.754C>T	CCDS43451.1	.	.	.	.	.	.	.	.	.	.	.	11.07	1.529907	0.27387	.	.	ENSG00000179344	ENST00000374943;ENST00000434651;ENST00000399084	T;T;T	0.00649	6.01;5.98;5.98	4.9	3.11	0.35812	.	0.524714	0.19548	U	0.111632	T	0.00637	0.0021	M	0.62088	1.915	0.19300	N	0.999979	D;D;D	0.64830	0.994;0.994;0.978	P;P;P	0.53450	0.726;0.726;0.656	T	0.51164	-0.8740	10	0.87932	D	0	.	7.1102	0.25386	0.2822:0.0:0.7178:0.0	.	217;252;252	A2VCT9;Q5Y7D6;Q5Y7A9	.;.;.	C	252	ENSP00000364080:R252C;ENSP00000407332:R252C;ENSP00000382034:R252C	ENSP00000364080:R252C	R	-	1	0	HLA-DQB1	32737120	0.997000	0.39634	0.028000	0.17463	0.044000	0.14063	3.214000	0.51161	0.481000	0.27557	0.650000	0.86243	CGT		0.557	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276127.1	NM_002123		4	39	0	0	0	1	0	4	39				
TIMP4	7079	broad.mit.edu	37	3	12198897	12198897	+	Silent	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:12198897G>T	ENST00000287814.4	-	2	735	c.225C>A	c.(223-225)atC>atA	p.I75I	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	75	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TTATCTGTTTGATTTCATACC	0.512																																					Melanoma(199;1446 2144 30617 38794 51714)	ENST00000287814.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						c.(223-225)atC>atA		TIMP metallopeptidase inhibitor 4							100.0	90.0	93.0					3																	12198897		2203	4300	6503	SO:0001819	synonymous_variant	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12198897G>T	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.225C>A	3.37:g.12198897G>T						SYN2_ENST00000432424.2_RNA	p.I75I	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN			2	735	-			75			NTR.		B2R7K6	Silent	SNP	ENST00000287814.4	37	c.225C>A	CCDS2608.1																																																																																				0.512	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		3	38	1	0	2.56e-06	1	2.82382e-06	3	38				
PTPN12	5782	broad.mit.edu	37	7	77256106	77256106	+	Silent	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:77256106C>G	ENST00000248594.6	+	13	1382	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	PTPN12_ENST00000435495.2_Silent_p.P240P|PTPN12_ENST00000415482.2_Silent_p.P251P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	370	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACCTTCTCCCCCTTCAGCTT	0.458																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1108-1110)ccC>ccG		protein tyrosine phosphatase, non-receptor type 12							99.0	89.0	92.0					7																	77256106		2203	4300	6503	SO:0001819	synonymous_variant	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256106C>G		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1110C>G	7.37:g.77256106C>G						PTPN12_ENST00000435495.2_Silent_p.P240P|PTPN12_ENST00000415482.2_Silent_p.P251P	p.P370P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1382	+			370			Interaction with TGFB1I1 (By similarity).		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Silent	SNP	ENST00000248594.6	37	c.1110C>G	CCDS5592.1																																																																																				0.458	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			8	52	0	0	0	1	0	8	52				
DYRK1A	1859	broad.mit.edu	37	21	38884218	38884218	+	Missense_Mutation	SNP	G	G	A	rs144190333	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:38884218G>A	ENST00000398960.2	+	11	1751	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H	DYRK1A_ENST00000339659.4_Missense_Mutation_p.R550H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398956.2_Silent_p.A517A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.R331H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	559					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTTCAGGTGCGTCAGCAATTT	0.413													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19610	0.0		0.0	False		,,,				2504	0.0				Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1648-1650)cGt>cAt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		G	HIS/ARG,,HIS/ARG,	2,4404	4.2+/-10.8	0,2,2201	71.0	68.0	69.0		1676,,1649,1551	4.7	1.0	21	dbSNP_134	69	0,8600		0,0,4300	yes	missense,utr-3,missense,coding-synonymous	DYRK1A	NM_001396.3,NM_101395.2,NM_130436.2,NM_130438.2	29,,29,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,,probably-damaging,	559/764,,550/755,517/530	38884218	2,13004	2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884218G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1676G>A	21.37:g.38884218G>A	ENSP00000381932:p.Arg559His					DYRK1A_ENST00000398960.2_Missense_Mutation_p.R559H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398956.2_Silent_p.A517A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.R331H	p.R550H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			11	3119	+			559					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1649G>A	CCDS42925.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.56	2.868362	0.51588	4.54E-4	0.0	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.56444	0.46;0.47;0.98	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	.	.	.	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74674	0.964;0.984	T	0.62618	-0.6816	9	0.15066	T	0.55	.	16.353	0.83224	0.0:0.1323:0.8677:0.0	.	559;550	Q13627;Q13627-2	DYR1A_HUMAN;.	H	550;559;331	ENSP00000340373:R550H;ENSP00000381932:R559H;ENSP00000407854:R331H	ENSP00000340373:R550H	R	+	2	0	DYRK1A	37806088	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	9.288000	0.96055	1.324000	0.45282	-0.175000	0.13238	CGT		0.413	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		10	46	0	0	0	1	0	10	46				
BSX	390259	broad.mit.edu	37	11	122848393	122848393	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:122848393G>A	ENST00000343035.2	-	3	714	c.666C>T	c.(664-666)gaC>gaT	p.D222D		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	222					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCTCCCCCTCGTCTCCAATGT	0.731																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(664-666)gaC>gaT		brain-specific homeobox							27.0	29.0	28.0					11																	122848393		1950	4126	6076	SO:0001819	synonymous_variant	390259							g.chr11:122848393G>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.666C>T	11.37:g.122848393G>A							p.D222D	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	714	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	222						Silent	SNP	ENST00000343035.2	37	c.666C>T	CCDS41728.1																																																																																				0.731	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		8	56	0	0	0	1	0	8	56				
DNAJC13	23317	broad.mit.edu	37	3	132222148	132222148	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:132222148C>T	ENST00000260818.6	+	41	5055	c.4807C>T	c.(4807-4809)Cca>Tca	p.P1603S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1603					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCCAGAAAATCCAACCATAAG	0.473																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(4807-4809)Cca>Tca		DnaJ (Hsp40) homolog, subfamily C, member 13							103.0	101.0	102.0					3																	132222148		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132222148C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4807C>T	3.37:g.132222148C>T	ENSP00000260818:p.Pro1603Ser						p.P1603S	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			41	5055	+			1603					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4807C>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395590	0.62177	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.17054	2.3	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	M	0.62016	1.91	0.80722	D	1	P	0.45126	0.851	B	0.37550	0.253	T	0.02115	-1.1211	10	0.33141	T	0.24	.	19.8994	0.96980	0.0:1.0:0.0:0.0	.	1603	O75165	DJC13_HUMAN	S	1603;250	ENSP00000260818:P1603S	ENSP00000260818:P1603S	P	+	1	0	DNAJC13	133704838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	2.703000	0.92315	0.650000	0.86243	CCA		0.473	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		4	78	0	0	0	1	0	4	78				
CRY1	1407	broad.mit.edu	37	12	107415954	107415954	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:107415954G>C	ENST00000008527.5	-	2	1042	c.175C>G	c.(175-177)Ctt>Gtt	p.L59V		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	59	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AGATCCTCAAGACACTGAAGC	0.313																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(175-177)Ctt>Gtt		cryptochrome 1 (photolyase-like)							75.0	81.0	79.0					12																	107415954		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107415954G>C	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.175C>G	12.37:g.107415954G>C	ENSP00000008527:p.Leu59Val						p.L59V	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			2	1042	-			59			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.175C>G	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051322	0.75960	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.38	5.38	0.77491	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.86953	2.85	0.80722	D	1	P	0.43392	0.805	B	0.43478	0.421	T	0.78160	-0.2312	9	0.54805	T	0.06	-21.2995	18.7268	0.91717	0.0:0.0:1.0:0.0	.	59	Q16526	CRY1_HUMAN	V	59	.	ENSP00000008527:L59V	L	-	1	0	CRY1	105940084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.708000	0.54845	2.518000	0.84900	0.650000	0.86243	CTT		0.313	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		18	102	0	0	0	1	0	18	102				
RANBP2	5903	broad.mit.edu	37	2	109399178	109399178	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:109399178C>T	ENST00000283195.6	+	28	9355	c.9229C>T	c.(9229-9231)Cta>Tta	p.L3077L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3077	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CGGTGAACCTCTAGGGCGGAT	0.423																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(9229-9231)Cta>Tta		RAN binding protein 2							145.0	145.0	145.0					2																	109399178		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109399178C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.9229C>T	2.37:g.109399178C>T							p.L3077L	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			28	9355	+			3077			PPIase cyclophilin-type.		Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.9229C>T	CCDS2079.1																																																																																				0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		28	180	0	0	0	1	0	28	180				
COG2	22796	broad.mit.edu	37	1	230795361	230795361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:230795361C>G	ENST00000366669.4	+	2	339	c.224C>G	c.(223-225)tCa>tGa	p.S75*	COG2_ENST00000534989.1_Nonsense_Mutation_p.S16*|COG2_ENST00000366668.3_Nonsense_Mutation_p.S75*|COG2_ENST00000535166.1_5'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	75					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCAATCTTTCAACAAACTTG	0.353																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(46-48)tCa>tGa		component of oligomeric golgi complex 2							106.0	107.0	106.0					1																	230795361		2203	4300	6503	SO:0001587	stop_gained	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230795361C>G	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.224C>G	1.37:g.230795361C>G	ENSP00000355629:p.Ser75*					COG2_ENST00000535166.1_5'UTR|COG2_ENST00000366668.3_Nonsense_Mutation_p.S75*|COG2_ENST00000366669.4_Nonsense_Mutation_p.S75*|COG2_ENST00000494371.1_3'UTR	p.S16*			Q14746	COG2_HUMAN			2	382	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	75					Q86U99	Nonsense_Mutation	SNP	ENST00000366669.4	37	c.47C>G	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	39	7.512689	0.98329	.	.	ENSG00000135775	ENST00000366669;ENST00000366668;ENST00000534989	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.8958	18.9087	0.92474	0.0:1.0:0.0:0.0	.	.	.	.	X	75;75;16	.	ENSP00000355628:S75X	S	+	2	0	COG2	228861984	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	6.980000	0.76160	2.515000	0.84797	0.655000	0.94253	TCA		0.353	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		12	52	0	0	0	1	0	12	52				
UGT1A10	54575	broad.mit.edu	37	2	234545887	234545887	+	Missense_Mutation	SNP	C	C	T	rs149598882		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:234545887C>T	ENST00000344644.5	+	1	788	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A10_ENST00000373445.1_Missense_Mutation_p.T240M|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	240					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	ACCCCTGTCACGGCATATGAT	0.433													-|||	1	0.000199681	0.0008	0.0	5008	,	,		20240	0.0		0.0	False		,,,				2504	0.0					ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(718-720)aCg>aTg				C	MET/THR,	6,4400	11.4+/-27.6	0,6,2197	260.0	271.0	268.0		719,	3.5	0.2	2	dbSNP_134	268	0,8600		0,0,4300	yes	missense,intron	UGT1A10,UGT1A8	NM_019075.2,NM_019076.4	81,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,	240/531,	234545887	6,13000	2203	4300	6503	SO:0001583	missense	54575							g.chr2:234545887C>T	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.719C>T	2.37:g.234545887C>T	ENSP00000343838:p.Thr240Met					UGT1A10_ENST00000373445.1_Missense_Mutation_p.T240M|UGT1A8_ENST00000373450.4_Intron	p.T240M	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	788	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.719C>T	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453674	0.26161	0.001362	0.0	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.62788	0.0;0.0	3.52	3.52	0.40303	.	.	.	.	.	D	0.84442	0.5473	H	0.94183	3.505	0.30036	N	0.812999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.83539	0.0095	9	0.87932	D	0	.	15.6441	0.77033	0.0:1.0:0.0:0.0	.	240;240	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	M	240	ENSP00000343838:T240M;ENSP00000362544:T240M	ENSP00000343838:T240M	T	+	2	0	UGT1A10	234210626	0.196000	0.23350	0.185000	0.23176	0.065000	0.16274	2.346000	0.44027	1.997000	0.58415	0.405000	0.27470	ACG		0.433	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		123	312	0	0	0	1	0	123	312				
CSMD3	114788	broad.mit.edu	37	8	113562942	113562942	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:113562942C>T	ENST00000297405.5	-	27	4766	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1468N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1404N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1508N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1508	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAAAATCCGTGTCAAAC	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4522-4524)Gat>Aat		CUB and Sushi multiple domains 3							59.0	63.0	61.0					8																	113562942		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113562942C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4522G>A	8.37:g.113562942C>T	ENSP00000297405:p.Asp1508Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.D1468N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1508N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1404N	p.D1508N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			27	4766	-			1508			CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4522G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355154	0.82243	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	4.36	4.36	0.52297	CUB (5);	0.000000	0.64402	D	0.000001	T	0.80783	0.4689	M	0.77486	2.375	0.43175	D	0.994982	D;D;D	0.62365	0.982;0.986;0.991	D;D;P	0.67382	0.918;0.951;0.908	T	0.80861	-0.1193	10	0.35671	T	0.21	.	17.4138	0.87494	0.0:1.0:0.0:0.0	.	1404;1508;1468	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1468;1508;848;1404;1508	ENSP00000345799:D1468N;ENSP00000297405:D1508N;ENSP00000341558:D848N;ENSP00000412263:D1404N;ENSP00000343124:D1508N	ENSP00000297405:D1508N	D	-	1	0	CSMD3	113632118	1.000000	0.71417	0.966000	0.40874	0.672000	0.39443	7.609000	0.82925	2.412000	0.81896	0.591000	0.81541	GAT		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	55	0	0	0	1	0	8	55				
SVEP1	79987	broad.mit.edu	37	9	113213614	113213614	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:113213614C>T	ENST00000401783.2	-	23	4192	c.3856G>A	c.(3856-3858)Gat>Aat	p.D1286N	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1286N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1263N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1286	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCACACCATCAACACAGATT	0.393																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(3856-3858)Gat>Aat		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							129.0	130.0	130.0					9																	113213614		1965	4175	6140	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113213614C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3856G>A	9.37:g.113213614C>T	ENSP00000384917:p.Asp1286Asn					SVEP1_ENST00000302728.8_Missense_Mutation_p.D1286N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1263N	p.D1286N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			23	4192	-			1286			EGF-like 3; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3856G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	36	5.684793	0.96784	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.92348	-3.02;-3.02;-2.25	4.53	4.53	0.55603	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	L	0.53671	1.685	0.45567	D	0.998516	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	D	0.94589	0.7786	10	0.45353	T	0.12	.	17.6099	0.88049	0.0:1.0:0.0:0.0	.	1286;1286	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	N	1286;1263;1286	ENSP00000384917:D1286N;ENSP00000363593:D1263N;ENSP00000304118:D1286N	ENSP00000304118:D1286N	D	-	1	0	SVEP1	112253435	1.000000	0.71417	0.248000	0.24265	0.855000	0.48748	5.637000	0.67854	2.225000	0.72522	0.460000	0.39030	GAT		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	49	0	0	0	1	0	4	49				
TMTC3	160418	broad.mit.edu	37	12	88588999	88588999	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:88588999G>T	ENST00000266712.6	+	14	2538	c.2318G>T	c.(2317-2319)gGa>gTa	p.G773V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	774					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AATGTGCAAGGAAAACACAAT	0.318																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(2317-2319)gGa>gTa		transmembrane and tetratricopeptide repeat containing 3							56.0	61.0	59.0					12																	88588999		2203	4299	6502	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88588999G>T		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2318G>T	12.37:g.88588999G>T	ENSP00000266712:p.Gly773Val						p.G773V	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			14	2538	+			774					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.2318G>T	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475700	0.63737	.	.	ENSG00000139324	ENST00000266712	T	0.72282	-0.64	5.69	5.69	0.88448	.	0.147066	0.64402	D	0.000010	D	0.83501	0.5268	M	0.75777	2.31	0.80722	D	1	D	0.61080	0.989	P	0.62382	0.901	D	0.84453	0.0589	10	0.66056	D	0.02	-20.042	19.7954	0.96478	0.0:0.0:1.0:0.0	.	773	Q6ZXV5-2	.	V	773	ENSP00000266712:G773V	ENSP00000266712:G773V	G	+	2	0	TMTC3	87113130	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.242000	0.72376	2.685000	0.91497	0.591000	0.81541	GGA		0.318	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		13	52	1	0	5.50884e-06	1	5.98516e-06	13	52				
KIAA0319L	79932	broad.mit.edu	37	1	35900587	35900587	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:35900587C>G	ENST00000325722.3	-	21	3292	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E457Q	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1020						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCCCTTCTCTCGGTCTGGC	0.572																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(3058-3060)Gag>Cag		KIAA0319-like							93.0	83.0	86.0					1																	35900587		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35900587C>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.3058G>C	1.37:g.35900587C>G	ENSP00000318406:p.Glu1020Gln					KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E457Q	p.E1020Q	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			21	3292	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1020					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.3058G>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509764	0.85282	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.14893	3.02;2.8;2.47	4.94	4.94	0.65067	.	0.095939	0.64402	D	0.000001	T	0.27697	0.0681	L	0.52573	1.65	0.80722	D	1	P;P	0.52577	0.954;0.59	P;P	0.50352	0.638;0.506	T	0.02015	-1.1229	10	0.66056	D	0.02	-9.3585	17.1661	0.86817	0.0:1.0:0.0:0.0	.	1020;462	Q8IZA0;Q8IZA0-3	K319L_HUMAN;.	Q	1020;457;1020	ENSP00000318406:E1020Q;ENSP00000362363:E457Q;ENSP00000395883:E1020Q	ENSP00000318406:E1020Q	E	-	1	0	KIAA0319L	35673174	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.532000	0.67154	2.290000	0.77057	0.563000	0.77884	GAG		0.572	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		14	61	0	0	0	1	0	14	61				
RAI1	10743	broad.mit.edu	37	17	17697199	17697199	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:17697199C>T	ENST00000353383.1	+	3	1406	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	RAI1_ENST00000261641.6_Missense_Mutation_p.H313Y	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	313	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAAGTATCAGCACTACGGGCA	0.637																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(937-939)Cac>Tac		retinoic acid induced 1							54.0	63.0	60.0					17																	17697199		2203	4299	6502	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697199C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.937C>T	17.37:g.17697199C>T	ENSP00000323074:p.His313Tyr					RAI1_ENST00000261641.6_Missense_Mutation_p.H313Y	p.H313Y	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1406	+			313			Gln-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.937C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290146	0.80914	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.33216	1.42;1.42;1.42	5.55	5.55	0.83447	.	0.063428	0.64402	D	0.000004	T	0.52256	0.1723	M	0.66939	2.045	0.52501	D	0.999959	D	0.89917	1.0	D	0.66716	0.946	T	0.37957	-0.9683	10	0.15066	T	0.55	.	19.4943	0.95065	0.0:1.0:0.0:0.0	.	313	Q7Z5J4	RAI1_HUMAN	Y	313;313;313;313;313;290	ENSP00000323074:H313Y;ENSP00000379120:H313Y;ENSP00000261641:H313Y	ENSP00000261641:H313Y	H	+	1	0	RAI1	17637924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.543000	0.67225	2.621000	0.88768	0.561000	0.74099	CAC		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		26	106	0	0	0	1	0	26	106				
THAP2	83591	broad.mit.edu	37	12	72068160	72068160	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:72068160T>G	ENST00000308086.2	+	2	1750	c.249T>G	c.(247-249)tgT>tgG	p.C83W	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.C59W	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	83						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTGATTTTTGTACCCATATAA	0.333																																						ENST00000308086.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						c.(247-249)tgT>tgG		THAP domain containing, apoptosis associated protein 2							100.0	102.0	101.0					12																	72068160		2203	4300	6503	SO:0001583	missense	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72068160T>G	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.249T>G	12.37:g.72068160T>G	ENSP00000310796:p.Cys83Trp					RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.C59W	p.C83W	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN			2	1750	+			83					B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	c.249T>G	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136813	0.37728	.	.	ENSG00000173451	ENST00000308086;ENST00000551488;ENST00000551238	D;D;D	0.96168	-3.93;-2.84;-2.83	6.17	5.04	0.67666	Zinc finger, C2CH-type (3);	0.142017	0.48767	D	0.000177	D	0.95262	0.8463	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.94497	0.7706	10	0.87932	D	0	.	6.9255	0.24412	0.0:0.1585:0.0:0.8415	.	83	Q9H0W7	THAP2_HUMAN	W	83;11;11	ENSP00000310796:C83W;ENSP00000448904:C11W;ENSP00000446986:C11W	ENSP00000448521:C11W	C	+	3	2	THAP2	70354427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.930000	0.28858	2.371000	0.80710	0.533000	0.62120	TGT		0.333	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		12	63	0	0	0	1	0	12	63				
CUX2	23316	broad.mit.edu	37	12	111746110	111746110	+	Silent	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:111746110G>T	ENST00000261726.6	+	13	1285	c.1131G>T	c.(1129-1131)ctG>ctT	p.L377L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	377					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCATGAAGCTGGCCTCCAGCA	0.652																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1129-1131)ctG>ctT		cut-like homeobox 2							69.0	74.0	73.0					12																	111746110		2016	4194	6210	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111746110G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1131G>T	12.37:g.111746110G>T							p.L377L	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			13	1285	+			377					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.1131G>T	CCDS41837.1																																																																																				0.652	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		31	107	1	0	2.47316e-13	1	2.83628e-13	31	107				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	105	0	0	0	1	0	5	105				
CSGALNACT1	55790	broad.mit.edu	37	8	19277993	19277993	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:19277993C>T	ENST00000454498.2	-	7	2003	c.990G>A	c.(988-990)ctG>ctA	p.L330L	CSGALNACT1_ENST00000544602.1_Silent_p.L330L|CSGALNACT1_ENST00000311540.4_Silent_p.L330L|CSGALNACT1_ENST00000522854.1_Silent_p.L330L|CSGALNACT1_ENST00000332246.6_Silent_p.L330L|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	330					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		ATTCTCCATTCAGCTGGATGA	0.483																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(988-990)ctG>ctA		chondroitin sulfate N-acetylgalactosaminyltransferase 1							134.0	130.0	131.0					8																	19277993		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19277993C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.990G>A	8.37:g.19277993C>T						CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.L330L|CSGALNACT1_ENST00000544602.1_Silent_p.L330L|CSGALNACT1_ENST00000522854.1_Silent_p.L330L|CSGALNACT1_ENST00000311540.4_Silent_p.L330L	p.L330L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	7	2003	-			330					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.990G>A	CCDS6010.1																																																																																				0.483	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		28	144	0	0	0	1	0	28	144				
ZNF99	7652	broad.mit.edu	37	19	22941701	22941701	+	Missense_Mutation	SNP	C	C	A	rs200967349		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:22941701C>A	ENST00000596209.1	-	4	1100	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	ZNF99_ENST00000397104.3_Missense_Mutation_p.G246V	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	337					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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTTCTTTCCAGTATGAAT	0.373																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(736-738)gGa>gTa		zinc finger protein 99							50.0	52.0	51.0					19																	22941701		2019	4205	6224	SO:0001583	missense	7652							g.chr19:22941701C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1010G>T	19.37:g.22941701C>A	ENSP00000472969:p.Gly337Val					ZNF99_ENST00000596209.1_Missense_Mutation_p.G337V	p.G246V							5	736	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.737G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	9.987	1.229724	0.22542	.	.	ENSG00000213973	ENST00000397104	T	0.23552	1.9	1.34	1.34	0.21922	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31199	0.0789	M	0.80332	2.49	0.48975	D	0.999738	P	0.44429	0.835	B	0.41764	0.366	T	0.31641	-0.9936	9	0.59425	D	0.04	.	9.642	0.39844	0.0:1.0:0.0:0.0	.	246	A8MXY4	ZNF99_HUMAN	V	246	ENSP00000380293:G246V	ENSP00000380293:G246V	G	-	2	0	ZNF99	22733541	0.006000	0.16342	0.007000	0.13788	0.005000	0.04900	1.225000	0.32551	0.719000	0.32188	0.451000	0.29950	GGA		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	52	1	0	1.23904e-05	1	1.33116e-05	4	52				
POLR2J4	84820	broad.mit.edu	37	7	44005513	44005513	+	RNA	SNP	G	G	A	rs2595699	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:44005513G>A	ENST00000427076.1	-	0	1379				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		GCCGGAACCAGCCCTCCTCCT	0.637													g|||	345	0.0688898	0.0855	0.072	5008	,	,		9925	0.1171		0.0606	False		,,,				2504	0.0031					ENST00000427076.1																			0																																																			84820							g.chr7:44005513G>A			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44005513G>A								NR_003655.2						0	1379	-									RNA	SNP	ENST00000427076.1	37																																																																																						0.637	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		4	37	0	0	0	1	0	4	37				
IL1RL2	8808	broad.mit.edu	37	2	102805656	102805656	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:102805656C>G	ENST00000264257.2	+	3	305	c.179C>G	c.(178-180)tCt>tGt	p.S60C	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S60C	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	60	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TATAAAAATTCTAGCAAAATC	0.413																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(178-180)tCt>tGt		interleukin 1 receptor-like 2							85.0	83.0	84.0					2																	102805656		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102805656C>G	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.179C>G	2.37:g.102805656C>G	ENSP00000264257:p.Ser60Cys					IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S60C|IL1RL2_ENST00000481806.1_Intron	p.S60C	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			3	305	+			60			Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.179C>G	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007085	0.54361	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.12361	2.69;2.69;2.69	5.86	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.755056	0.12876	N	0.431890	T	0.23806	0.0576	L	0.34521	1.04	0.09310	N	1	D	0.63880	0.993	P	0.61275	0.886	T	0.09443	-1.0674	10	0.62326	D	0.03	.	11.1226	0.48300	0.0:0.9155:0.0:0.0845	.	60	Q9HB29	ILRL2_HUMAN	C	60	ENSP00000264257:S60C;ENSP00000387611:S60C;ENSP00000442184:S60C	ENSP00000264257:S60C	S	+	2	0	IL1RL2	102172088	0.002000	0.14202	0.007000	0.13788	0.156000	0.22039	1.250000	0.32850	1.629000	0.50426	0.650000	0.86243	TCT		0.413	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		9	54	0	0	0	1	0	9	54				
IBSP	3381	broad.mit.edu	37	4	88732603	88732603	+	Silent	SNP	C	C	T	rs200405481		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:88732603C>T	ENST00000226284.5	+	7	562	c.495C>T	c.(493-495)agC>agT	p.S165S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	165	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.S165S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.458																																						ENST00000226284.5																			1	Substitution - coding silent(1)	p.S165S(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(493-495)agC>agT		integrin-binding sialoprotein							137.0	127.0	131.0					4																	88732603		2203	4300	6503	SO:0001819	synonymous_variant	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732603C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.495C>T	4.37:g.88732603C>T							p.S165S	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	562	+		Hepatocellular(203;0.114)	165			Asp/Glu-rich (acidic).			Silent	SNP	ENST00000226284.5	37	c.495C>T	CCDS3624.1																																																																																				0.458	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			6	41	0	0	0	1	0	6	41				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	12	0	0	0	1	0	3	12				
MUC4	4585	broad.mit.edu	37	3	195516850	195516850	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:195516850G>C	ENST00000463781.3	-	2	2060	c.1601C>G	c.(1600-1602)tCt>tGt	p.S534C	MUC4_ENST00000475231.1_Missense_Mutation_p.S534C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	539					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGACCTTAGAGGGGACCCT	0.542																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1600-1602)tCt>tGt		mucin 4, cell surface associated							135.0	127.0	130.0					3																	195516850		1936	4128	6064	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516850G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1601C>G	3.37:g.195516850G>C	ENSP00000417498:p.Ser534Cys					MUC4_ENST00000475231.1_Missense_Mutation_p.S534C|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.S534C	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2060	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	539					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1601C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.261	0.047420	0.08243	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.48836	0.8;0.82	2.46	2.46	0.29980	.	965.311000	0.00166	U	0.000001	T	0.60483	0.2272	L	0.39898	1.24	0.09310	N	1	D;D	0.67145	0.996;0.996	D;P	0.66602	0.945;0.867	T	0.49986	-0.8880	10	0.72032	D	0.01	.	8.6501	0.34029	0.0:0.0:1.0:0.0	.	534;539	E7ESK3;Q99102	.;MUC4_HUMAN	C	534;534;508	ENSP00000417498:S534C;ENSP00000420243:S534C	ENSP00000376209:S508C	S	-	2	0	MUC4	197001245	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.895000	0.28363	1.723000	0.51488	0.531000	0.56144	TCT		0.542	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		38	107	0	0	0	1	0	38	107				
ZNF385A	25946	broad.mit.edu	37	12	54764735	54764735	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:54764735G>A	ENST00000338010.5	-	6	863	c.810C>T	c.(808-810)gtC>gtT	p.V270V	ZNF385A_ENST00000551771.1_Silent_p.V169V|ZNF385A_ENST00000551109.1_Silent_p.V250V|ZNF385A_ENST00000546970.1_Silent_p.V250V|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000394313.2_Silent_p.V250V|ZNF385A_ENST00000352268.6_Silent_p.V189V	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	270	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTCCGAGTTGACCTTGACAT	0.597											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000546970.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(748-750)gtC>gtT		zinc finger protein 385A							95.0	102.0	100.0					12																	54764735		2203	4300	6503	SO:0001819	synonymous_variant	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54764735G>A	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.810C>T	12.37:g.54764735G>A			OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1002	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Silent_p.V189V|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000551771.1_Silent_p.V169V|ZNF385A_ENST00000551109.1_Silent_p.V250V|ZNF385A_ENST00000338010.5_Silent_p.V270V|ZNF385A_ENST00000394313.2_Silent_p.V250V	p.V250V			Q96PM9	Z385A_HUMAN			7	1039	-			250					B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Silent	SNP	ENST00000338010.5	37	c.750C>T	CCDS44911.1																																																																																				0.597	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481		19	120	0	0	0	1	0	19	120				
GUCY2D	3000	broad.mit.edu	37	17	7917290	7917290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:7917290C>T	ENST00000254854.4	+	12	2506	c.2356C>T	c.(2356-2358)Cag>Tag	p.Q786*		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	786	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CCTGATGAAGCAGTGCTGGGC	0.647																																						ENST00000254854.4																			0				skin(1)	1						c.(2356-2358)Cag>Tag		guanylate cyclase 2D, membrane (retina-specific)							88.0	87.0	88.0					17																	7917290		2203	4300	6503	SO:0001587	stop_gained	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7917290C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2356C>T	17.37:g.7917290C>T	ENSP00000254854:p.Gln786*						p.Q786*	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			12	2506	+		Prostate(122;0.157)	786			Protein kinase.		Q6LEA7	Nonsense_Mutation	SNP	ENST00000254854.4	37	c.2356C>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	40	8.497372	0.98836	.	.	ENSG00000132518	ENST00000254854	.	.	.	5.44	5.44	0.79542	.	0.000000	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	18.2031	0.89846	0.0:1.0:0.0:0.0	.	.	.	.	X	786	.	ENSP00000254854:Q786X	Q	+	1	0	GUCY2D	7858015	0.872000	0.30054	0.998000	0.56505	0.970000	0.65996	1.528000	0.35985	2.837000	0.97791	0.655000	0.94253	CAG		0.647	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			11	63	0	0	0	1	0	11	63				
HK3	3101	broad.mit.edu	37	5	176317843	176317843	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:176317843G>A	ENST00000292432.5	-	5	605	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	172	Glucose-binding. {ECO:0000255}.|Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGTCTGGTGACAAGGGAAA	0.587																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(514-516)Cac>Tac		hexokinase 3 (white cell)							65.0	65.0	65.0					5																	176317843		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317843G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.514C>T	5.37:g.176317843G>A	ENSP00000292432:p.His172Tyr						p.H172Y	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	605	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	172			Glucose-binding (Potential).|Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.514C>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496464	0.44352	.	.	ENSG00000160883	ENST00000292432	D	0.98249	-4.82	4.79	3.92	0.45320	Hexokinase, N-terminal (1);	0.109690	0.41500	D	0.000877	D	0.96756	0.8941	L	0.42529	1.33	0.26782	N	0.969582	B	0.29936	0.262	B	0.42386	0.386	D	0.93668	0.6987	10	0.66056	D	0.02	.	7.758	0.28936	0.0896:0.1634:0.747:0.0	.	172	P52790	HXK3_HUMAN	Y	172	ENSP00000292432:H172Y	ENSP00000292432:H172Y	H	-	1	0	HK3	176250449	0.303000	0.24463	1.000000	0.80357	0.968000	0.65278	0.650000	0.24858	1.016000	0.39470	0.561000	0.74099	CAC		0.587	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			7	69	0	0	0	1	0	7	69				
SDK1	221935	broad.mit.edu	37	7	4116726	4116726	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:4116726C>T	ENST00000404826.2	+	21	3246	c.3107C>T	c.(3106-3108)tCa>tTa	p.S1036L	SDK1_ENST00000389531.3_Missense_Mutation_p.S1036L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1036	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAAGGCCTCTCATCTCTCACC	0.577																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3106-3108)tCa>tTa		sidekick cell adhesion molecule 1							172.0	135.0	147.0					7																	4116726		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4116726C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3107C>T	7.37:g.4116726C>T	ENSP00000385899:p.Ser1036Leu					SDK1_ENST00000389531.3_Missense_Mutation_p.S1036L	p.S1036L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	21	3246	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1036			Fibronectin type-III 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3107C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797523	0.50208	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56611	0.45;0.45	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.110360	0.39407	N	0.001365	T	0.45975	0.1369	L	0.31207	0.915	0.48571	D	0.999678	B;B	0.14438	0.002;0.01	B;B	0.18871	0.007;0.023	T	0.34030	-0.9845	10	0.51188	T	0.08	.	19.1217	0.93365	0.0:1.0:0.0:0.0	.	1036;1036	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	L	1036	ENSP00000385899:S1036L;ENSP00000374182:S1036L	ENSP00000374182:S1036L	S	+	2	0	SDK1	4083252	1.000000	0.71417	0.010000	0.14722	0.100000	0.18952	5.891000	0.69782	2.525000	0.85131	0.650000	0.86243	TCA		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	49	0	0	0	1	0	7	49				
SPATA31E1	286234	broad.mit.edu	37	9	90500020	90500020	+	Silent	SNP	G	G	A	rs576230052	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:90500020G>A	ENST00000325643.5	+	4	684	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	206	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACCAGGCCCGATGACCTTCT	0.622													.|||	2	0.000399361	0.0	0.0	5008	,	,		17647	0.0		0.0	False		,,,				2504	0.002					ENST00000325643.5																			0											c.(616-618)ccG>ccA		SPATA31 subfamily E, member 1							94.0	99.0	98.0					9																	90500020		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90500020G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.618G>A	9.37:g.90500020G>A							p.P206P	NM_178828.4	NP_849150.3					4	684	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.618G>A	CCDS6676.1																																																																																				0.622	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		22	137	0	0	0	1	0	22	137				
COL6A1	1291	broad.mit.edu	37	21	47422559	47422559	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:47422559A>G	ENST00000361866.3	+	33	2483	c.2369A>G	c.(2368-2370)aAg>aGg	p.K790R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	790	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TCGCTGGTCAAGGAGAACTAT	0.592																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2368-2370)aAg>aGg		collagen, type VI, alpha 1	Palifermin(DB00039)						85.0	80.0	81.0					21																	47422559		2203	4300	6503	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422559A>G	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2369A>G	21.37:g.47422559A>G	ENSP00000355180:p.Lys790Arg					COL6A1_ENST00000498614.1_3'UTR	p.K790R	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	33	2483	+	all_hematologic(128;0.24)		790			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2369A>G	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	A	7.724	0.697824	0.15106	.	.	ENSG00000142156	ENST00000361866	D	0.90069	-2.61	4.73	4.73	0.59995	von Willebrand factor, type A (2);	0.291131	0.31335	N	0.007834	T	0.73055	0.3538	N	0.03115	-0.41	0.29704	N	0.839904	B	0.15930	0.015	B	0.17433	0.018	T	0.64127	-0.6480	10	0.19590	T	0.45	-28.9323	9.1338	0.36861	0.9128:0.0:0.0872:0.0	.	790	P12109	CO6A1_HUMAN	R	790	ENSP00000355180:K790R	ENSP00000355180:K790R	K	+	2	0	COL6A1	46246987	0.948000	0.32251	0.955000	0.39395	0.225000	0.24961	1.614000	0.36911	1.774000	0.52232	0.374000	0.22700	AAG		0.592	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		18	76	0	0	0	1	0	18	76				
RAP2B	5912	broad.mit.edu	37	3	152880888	152880888	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:152880888G>A	ENST00000323534.2	+	1	860	c.406G>A	c.(406-408)Gag>Aag	p.E136K	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	136					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGCCCTGGCTGAGGAGTGGAG	0.627																																						ENST00000323534.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(406-408)Gag>Aag		RAP2B, member of RAS oncogene family							56.0	45.0	49.0					3																	152880888		2203	4300	6503	SO:0001583	missense	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880888G>A		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.406G>A	3.37:g.152880888G>A	ENSP00000319096:p.Glu136Lys						p.E136K	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	860	+			136					P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	c.406G>A	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829167	0.32329	.	.	ENSG00000181467	ENST00000323534	T	0.75704	-0.96	4.67	4.67	0.58626	Small GTP-binding protein domain (1);	0.225948	0.34828	U	0.003655	T	0.46425	0.1392	N	0.01297	-0.9	0.47037	D	0.999293	B	0.02656	0.0	B	0.08055	0.003	T	0.47837	-0.9086	10	0.13108	T	0.6	.	16.3249	0.82975	0.0:0.0:1.0:0.0	.	136	P61225	RAP2B_HUMAN	K	136	ENSP00000319096:E136K	ENSP00000319096:E136K	E	+	1	0	RAP2B	154363578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.917000	0.48821	2.412000	0.81896	0.563000	0.77884	GAG		0.627	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886		3	28	0	0	0	1	0	3	28				
DIXDC1	85458	broad.mit.edu	37	11	111839271	111839271	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:111839271C>T	ENST00000529225.1	+	4	502	c.222C>T	c.(220-222)ccC>ccT	p.P74P	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000440460.2_Silent_p.P75P|DIXDC1_ENST00000531396.1_Silent_p.P75P	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	75	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGCTGAGTCCCGGTAACCAAC	0.438																																						ENST00000440460.2																			0				cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17						c.(223-225)ccC>ccT		DIX domain containing 1							71.0	69.0	70.0					11																	111839271		1895	4121	6016	SO:0001819	synonymous_variant	85458				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity	g.chr11:111839271C>T	AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.222C>T	11.37:g.111839271C>T						DIXDC1_ENST00000531396.1_Silent_p.P75P|DIXDC1_ENST00000529225.1_Silent_p.P74P|DIXDC1_ENST00000389821.4_3'UTR	p.P75P	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)	3	522	+		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	75			CH.		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000529225.1	37	c.225C>T																																																																																					0.438	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954		11	17	0	0	0	1	0	11	17				
VPS13C	54832	broad.mit.edu	37	15	62234017	62234017	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:62234017G>C	ENST00000261517.5	-	46	5471	c.5398C>G	c.(5398-5400)Ctt>Gtt	p.L1800V	VPS13C_ENST00000395896.4_Missense_Mutation_p.L1800V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1757V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L1757V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTGGAGGAAGAGAATAATGT	0.348																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(5398-5400)Ctt>Gtt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							79.0	79.0	79.0					15																	62234017		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62234017G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5398C>G	15.37:g.62234017G>C	ENSP00000261517:p.Leu1800Val					VPS13C_ENST00000249837.3_Missense_Mutation_p.L1757V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1757V|VPS13C_ENST00000395896.4_Missense_Mutation_p.L1800V	p.L1800V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			46	5471	-			1800						Missense_Mutation	SNP	ENST00000261517.5	37	c.5398C>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210921	0.58343	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.14022	2.54;2.54;2.54	5.15	3.24	0.37175	.	0.152115	0.45126	N	0.000384	T	0.19846	0.0477	M	0.64260	1.97	0.54753	D	0.999981	B;B;B;B	0.28713	0.22;0.182;0.22;0.114	B;B;B;B	0.40636	0.137;0.335;0.137;0.137	T	0.02639	-1.1130	10	0.24483	T	0.36	.	10.5881	0.45294	0.0726:0.1337:0.7937:0.0	.	1757;1800;1757;1800	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	1757;1800;1800;1800	ENSP00000249837:L1757V;ENSP00000261517:L1800V;ENSP00000379233:L1800V	ENSP00000249837:L1757V	L	-	1	0	VPS13C	60021309	1.000000	0.71417	0.966000	0.40874	0.872000	0.50106	4.459000	0.60102	0.646000	0.30693	0.655000	0.94253	CTT		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		12	64	0	0	0	1	0	12	64				
RIMS1	22999	broad.mit.edu	37	6	72596767	72596767	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:72596767C>T	ENST00000521978.1	+	1	41	c.41C>T	c.(40-42)aCg>aTg	p.T14M	RIMS1_ENST00000517960.1_Missense_Mutation_p.T14M|RIMS1_ENST00000348717.5_Missense_Mutation_p.T14M|RIMS1_ENST00000491071.2_Missense_Mutation_p.T14M|RIMS1_ENST00000264839.7_Missense_Mutation_p.T14M|RIMS1_ENST00000520567.1_Missense_Mutation_p.T14M|RIMS1_ENST00000518273.1_Missense_Mutation_p.T14M|RIMS1_ENST00000522291.1_Missense_Mutation_p.T14M	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	14					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CGCCCACCCACGGTGCCTCCC	0.657																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(40-42)aCg>aTg		regulating synaptic membrane exocytosis 1							25.0	31.0	29.0					6																	72596767		2021	4154	6175	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72596767C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.41C>T	6.37:g.72596767C>T	ENSP00000428417:p.Thr14Met					RIMS1_ENST00000491071.2_Missense_Mutation_p.T14M|RIMS1_ENST00000520567.1_Missense_Mutation_p.T14M|RIMS1_ENST00000518273.1_Missense_Mutation_p.T14M|RIMS1_ENST00000522291.1_Missense_Mutation_p.T14M|RIMS1_ENST00000517960.1_Missense_Mutation_p.T14M|RIMS1_ENST00000348717.5_Missense_Mutation_p.T14M|RIMS1_ENST00000521978.1_Missense_Mutation_p.T14M	p.T14M			Q86UR5	RIMS1_HUMAN			1	41	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	14					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.41C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315476	0.60524	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	4.6	4.6	0.57074	.	0.000000	0.44902	U	0.000420	T	0.34366	0.0895	L	0.39898	1.24	0.80722	D	1	D	0.64830	0.994	P	0.54431	0.752	T	0.24083	-1.0170	10	0.72032	D	0.01	-4.5717	16.3959	0.83605	0.0:1.0:0.0:0.0	.	14	Q86UR5	RIMS1_HUMAN	M	14	ENSP00000430101:T14M;ENSP00000275037:T14M;ENSP00000264839:T14M;ENSP00000429959:T14M;ENSP00000430408:T14M;ENSP00000430502:T14M;ENSP00000430932:T14M;ENSP00000428417:T14M	ENSP00000264839:T14M	T	+	2	0	RIMS1	72653488	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.350000	0.59392	2.102000	0.63906	0.484000	0.47621	ACG		0.657	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			3	28	0	0	0	1	0	3	28				
FOXD4	2298	broad.mit.edu	37	9	117664	117664	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:117664G>A	ENST00000382500.2	-	1	753	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	152			I -> V (in dbSNP:rs7031810). {ECO:0000269|PubMed:12234674}.		transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGTTGTGGCGGATGCTGTTCT	0.657																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(454-456)atC>atT		forkhead box D4							67.0	97.0	87.0					9																	117664		2098	4121	6219	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117664G>A	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.456C>T	9.37:g.117664G>A							p.I152I	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	753	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	152		I -> V (in dbSNP:rs7031810).			B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.456C>T	CCDS34975.1																																																																																				0.657	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		23	292	0	0	0	1	0	23	292				
CYP4A11	1579	broad.mit.edu	37	1	47400677	47400677	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:47400677T>G	ENST00000310638.4	-	6	816	c.785A>C	c.(784-786)cAc>cCc	p.H262P	CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000371905.1_Missense_Mutation_p.H262P|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H262P|CYP4A11_ENST00000457840.2_Intron	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	262					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGAACCTGTGTGCTGATGGGC	0.577																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(784-786)cAc>cCc		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						119.0	117.0	118.0					1																	47400677		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47400677T>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.785A>C	1.37:g.47400677T>G	ENSP00000311095:p.His262Pro					CYP4A11_ENST00000371905.1_Missense_Mutation_p.H262P|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H262P	p.H262P	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			6	816	-			262					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.785A>C	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	19.35	3.810329	0.70797	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.68765	-0.33;-0.35;-0.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.62154	1.92	0.80722	D	1	P	0.44986	0.847	P	0.61658	0.892	T	0.80681	-0.1274	10	0.72032	D	0.01	.	15.2233	0.73330	0.0:0.0:0.0:1.0	.	262	Q02928	CP4AB_HUMAN	P	262	ENSP00000311095:H262P;ENSP00000360971:H262P;ENSP00000360972:H262P	ENSP00000311095:H262P	H	-	2	0	CYP4A11	47173264	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.586000	0.74067	2.062000	0.61559	0.528000	0.53228	CAC		0.577	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		18	96	0	0	0	1	0	18	96				
RHOA	387	broad.mit.edu	37	3	49412948	49412948	+	Silent	SNP	G	G	A	rs147354494		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49412948G>A	ENST00000418115.1	-	2	459	c.75C>T	c.(73-75)ttC>ttT	p.F25F	RHOA_ENST00000454011.2_Silent_p.F25F|RHOA_ENST00000422781.1_Silent_p.F25F	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	25					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGTCCTTGCTGAAGACTATGA	0.453																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(73-75)ttC>ttT		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)	G		1,4405	2.1+/-5.4	0,1,2202	149.0	135.0	140.0		75	1.3	1.0	3	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	RHOA	NM_001664.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		25/194	49412948	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412948G>A	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.75C>T	3.37:g.49412948G>A						RHOA_ENST00000422781.1_Silent_p.F25F|RHOA_ENST00000454011.2_Silent_p.F25F	p.F25F	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	459	-			25					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Silent	SNP	ENST00000418115.1	37	c.75C>T	CCDS2795.1																																																																																				0.453	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		11	102	0	0	0	1	0	11	102				
PTPRG	5793	broad.mit.edu	37	3	62254725	62254725	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:62254725T>C	ENST00000474889.1	+	20	3267	c.2890T>C	c.(2890-2892)Tat>Cat	p.Y964H	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.Y935H|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	964	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATGTGATCAGTATTGGCCAAC	0.358																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2890-2892)Tat>Cat		protein tyrosine phosphatase, receptor type, G							99.0	89.0	92.0					3																	62254725		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62254725T>C	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2890T>C	3.37:g.62254725T>C	ENSP00000418112:p.Tyr964His					PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.Y935H|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	p.Y964H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	20	3267	+			964			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2890T>C	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692697	0.88735	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.93712	-3.27;-3.27	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99513	1.0956	10	0.87932	D	0	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	210;935;964	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	H	964;935	ENSP00000418112:Y964H;ENSP00000295874:Y935H	ENSP00000295874:Y935H	Y	+	1	0	PTPRG	62229765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.914000	0.87478	2.236000	0.73375	0.533000	0.62120	TAT		0.358	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		16	57	0	0	0	1	0	16	57				
ATP10A	57194	broad.mit.edu	37	15	25924905	25924905	+	Silent	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:25924905G>T	ENST00000356865.6	-	21	4194	c.4083C>A	c.(4081-4083)gtC>gtA	p.V1361V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1361					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCAGGGAGCAGACCGGCTGCT	0.662																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4081-4083)gtC>gtA		ATPase, class V, type 10A							54.0	53.0	53.0					15																	25924905		2202	4299	6501	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924905G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4083C>A	15.37:g.25924905G>T							p.V1361V	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4194	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1361					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4083C>A	CCDS32178.1																																																																																				0.662	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		8	95	1	0	0.000157383	1	0.000164796	8	95				
SLC44A3	126969	broad.mit.edu	37	1	95310851	95310851	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:95310851G>C	ENST00000271227.6	+	9	1005	c.903G>C	c.(901-903)ttG>ttC	p.L301F	SLC44A3_ENST00000527077.1_Missense_Mutation_p.L233F|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Missense_Mutation_p.L221F|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000446120.2_Missense_Mutation_p.L265F|SLC44A3_ENST00000529450.1_Missense_Mutation_p.L269F|SLC44A3_ENST00000467909.1_Missense_Mutation_p.L253F	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	301					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L301F(1)|p.L253F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGCTCGTCTTGATTTTTGTTC	0.408																																						ENST00000271227.6																			2	Substitution - Missense(2)	p.L301F(1)|p.L253F(1)	prostate(2)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(901-903)ttG>ttC		solute carrier family 44, member 3	Choline(DB00122)						88.0	92.0	91.0					1																	95310851		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95310851G>C	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.903G>C	1.37:g.95310851G>C	ENSP00000271227:p.Leu301Phe					SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.L253F|SLC44A3_ENST00000446120.2_Missense_Mutation_p.L265F|SLC44A3_ENST00000532427.1_Missense_Mutation_p.L221F|SLC44A3_ENST00000529450.1_Missense_Mutation_p.L269F|SLC44A3_ENST00000527077.1_Missense_Mutation_p.L233F|RP11-465K1.2_ENST00000422162.1_RNA	p.L301F	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	9	1005	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	301					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.903G>C	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537470	0.65085	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.55	5.55	0.83447	.	0.422619	0.19175	N	0.120826	T	0.41282	0.1152	M	0.76170	2.325	0.43283	D	0.995253	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.962;0.999;0.997;0.999	T	0.34875	-0.9811	10	0.72032	D	0.01	-7.7287	10.893	0.47006	0.0:0.1393:0.7167:0.144	.	221;265;233;269;301	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	F	265;301;233;269;253;221	ENSP00000389143:L265F;ENSP00000271227:L301F;ENSP00000433641:L233F;ENSP00000431836:L269F;ENSP00000432789:L253F;ENSP00000436661:L221F	ENSP00000271227:L301F	L	+	3	2	SLC44A3	95083439	1.000000	0.71417	0.980000	0.43619	0.951000	0.60555	2.279000	0.43435	2.610000	0.88304	0.557000	0.71058	TTG		0.408	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		13	89	0	0	0	1	0	13	89				
EFNB1	1947	broad.mit.edu	37	X	68058576	68058576	+	Missense_Mutation	SNP	G	G	C	rs370637906		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:68058576G>C	ENST00000204961.4	+	2	1025	c.245G>C	c.(244-246)cGg>cCg	p.R82P		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	82	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TACCTGGTGCGGCCTGAGCAG	0.552																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(244-246)cGg>cCg		ephrin-B1							72.0	49.0	57.0					X																	68058576		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68058576G>C	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.245G>C	X.37:g.68058576G>C	ENSP00000204961:p.Arg82Pro						p.R82P	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			2	1025	+			82					D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.245G>C	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	G	2.926	-0.222051	0.06061	.	.	ENSG00000090776	ENST00000204961	D	0.94897	-3.55	5.16	4.3	0.51218	Cupredoxin (2);	0.174893	0.47093	D	0.000242	D	0.92328	0.7566	L	0.31207	0.915	0.36706	D	0.880402	P	0.42518	0.782	P	0.50082	0.63	D	0.92655	0.6136	10	0.44086	T	0.13	-23.131	10.4497	0.44516	0.096:0.0:0.904:0.0	.	82	P98172	EFNB1_HUMAN	P	82	ENSP00000204961:R82P	ENSP00000204961:R82P	R	+	2	0	EFNB1	67975301	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	2.672000	0.46850	1.173000	0.42796	-0.297000	0.09499	CGG		0.552	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		3	12	0	0	0	1	0	3	12				
UTP11L	51118	broad.mit.edu	37	1	38485030	38485030	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:38485030G>C	ENST00000373014.4	+	6	603	c.542G>C	c.(541-543)gGa>gCa	p.G181A	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	181					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAGTGAAAGGAGTTACCAAT	0.408																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(541-543)gGa>gCa		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							93.0	97.0	95.0					1																	38485030		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38485030G>C	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.542G>C	1.37:g.38485030G>C	ENSP00000362105:p.Gly181Ala					UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	p.G181A	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			6	603	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	181					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.542G>C	CCDS429.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048393	0.75846	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	L	0.41492	1.28	0.80722	D	1	P	0.46784	0.884	P	0.52823	0.71	T	0.50474	-0.8824	9	0.08837	T	0.75	-26.802	19.0392	0.92991	0.0:0.0:1.0:0.0	.	181	Q9Y3A2	UTP11_HUMAN	A	181	.	ENSP00000362105:G181A	G	+	2	0	UTP11L	38257617	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.116000	0.89574	2.740000	0.93945	0.650000	0.86243	GGA		0.408	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		19	89	0	0	0	1	0	19	89				
CASP8	841	broad.mit.edu	37	2	202149538	202149538	+	Splice_Site	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:202149538G>C	ENST00000432109.2	+	9	991		c.e9-1		CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000358485.4_Splice_Site|CASP8_ENST00000323492.7_Splice_Site	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCACTTTTCAGGGGCTTTGAC	0.418										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.e8-1		caspase 8, apoptosis-related cysteine peptidase							53.0	51.0	52.0					2																	202149538		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149538G>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.803-1G>C	2.37:g.202149538G>C		HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000392259.2_Splice_Site		NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1175	+								O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37		CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166411	0.38217	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6188	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASP8	201857783	1.000000	0.71417	0.975000	0.42487	0.016000	0.09150	8.832000	0.92079	2.646000	0.89796	0.655000	0.94253	.		0.418	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Intron	8	41	0	0	0	1	0	8	41				
ATP8A1	10396	broad.mit.edu	37	4	42524296	42524296	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:42524296C>G	ENST00000381668.5	-	22	2059	c.1828G>C	c.(1828-1830)Gct>Cct	p.A610P	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A595P	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	610					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAGCCACAGCAAAACATAAA	0.423																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1828-1830)Gct>Cct		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						69.0	66.0	67.0					4																	42524296		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42524296C>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1828G>C	4.37:g.42524296C>G	ENSP00000371084:p.Ala610Pro					ATP8A1_ENST00000264449.10_Missense_Mutation_p.A595P	p.A610P	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			22	2059	-			610					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1828G>C	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898281	0.52227	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.93712	-3.27;-3.27	5.54	4.69	0.59074	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	H	0.99261	4.49	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.985;0.995	D	0.99844	1.1064	10	0.87932	D	0	.	16.6929	0.85326	0.0:0.8702:0.1298:0.0	.	595;610	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	P	610;595	ENSP00000371084:A610P;ENSP00000264449:A595P	ENSP00000264449:A595P	A	-	1	0	ATP8A1	42219053	1.000000	0.71417	0.868000	0.34077	0.007000	0.05969	6.864000	0.75494	1.444000	0.47605	-0.181000	0.13052	GCT		0.423	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		4	61	0	0	0	1	0	4	61				
MED16	10025	broad.mit.edu	37	19	881615	881615	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:881615G>A	ENST00000589119.1	-	6	1084	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.S362L|MED16_ENST00000312090.6_Missense_Mutation_p.S362L|MED16_ENST00000269814.4_Missense_Mutation_p.S362L|MED16_ENST00000325464.1_Missense_Mutation_p.S362L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	362					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGGTGAGCGAGATGGGCAG	0.632																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1084-1086)tCg>tTg		mediator complex subunit 16							101.0	90.0	94.0					19																	881615		2202	4293	6495	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:881615G>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1085C>T	19.37:g.881615G>A	ENSP00000464810:p.Ser362Leu					MED16_ENST00000589119.1_Missense_Mutation_p.S362L|MED16_ENST00000325464.1_Missense_Mutation_p.S362L|MED16_ENST00000269814.4_Missense_Mutation_p.S362L|MED16_ENST00000395808.3_Missense_Mutation_p.S362L|MED16_ENST00000606828.1_Intron	p.S362L			Q9Y2X0	MED16_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)	7	1235	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	362					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1085C>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041861	0.93685	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000424039	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	4.46	4.46	0.54185	WD40 repeat-like-containing domain (1);	0.063231	0.64402	D	0.000004	T	0.09905	0.0243	N	0.17082	0.46	0.80722	D	1	P;P;D;D;D	0.57571	0.938;0.904;0.975;0.975;0.98	B;B;B;B;P	0.46110	0.285;0.314;0.371;0.371;0.504	T	0.25950	-1.0117	10	0.36615	T	0.2	-21.619	16.1288	0.81412	0.0:0.0:1.0:0.0	.	362;362;362;362;362	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	L	362;362;362;362;362;218;362	ENSP00000325612:S362L;ENSP00000308528:S362L;ENSP00000379153:S362L;ENSP00000269814:S362L	ENSP00000269814:S362L	S	-	2	0	MED16	832615	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.217000	0.77982	2.036000	0.60181	0.561000	0.74099	TCG		0.632	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		15	79	0	0	0	1	0	15	79				
MAP3K6	9064	broad.mit.edu	37	1	27690449	27690449	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:27690449C>T	ENST00000493901.1	-	6	1062	c.823G>A	c.(823-825)Gac>Aac	p.D275N	MAP3K6_ENST00000374040.3_Missense_Mutation_p.D267N|MAP3K6_ENST00000357582.2_Missense_Mutation_p.D275N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	275					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGATGATGTCGGGGCTCAGC	0.632																																						ENST00000493901.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(823-825)Gac>Aac		mitogen-activated protein kinase kinase kinase 6							55.0	52.0	53.0					1																	27690449		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27690449C>T	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.823G>A	1.37:g.27690449C>T	ENSP00000419591:p.Asp275Asn					MAP3K6_ENST00000357582.2_Missense_Mutation_p.D275N|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D267N	p.D275N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	6	1062	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	275					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.823G>A	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155446	0.94686	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.12879	2.64;2.64;2.64	5.29	5.29	0.74685	.	.	.	.	.	T	0.38719	0.1051	M	0.76727	2.345	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.03922	-1.0992	8	.	.	.	.	16.8805	0.86061	0.0:1.0:0.0:0.0	.	267;275	O95382-3;O95382	.;M3K6_HUMAN	N	267;275;275	ENSP00000363152:D267N;ENSP00000419591:D275N;ENSP00000350195:D275N	.	D	-	1	0	MAP3K6	27563036	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	6.759000	0.74934	2.761000	0.94854	0.655000	0.94253	GAC		0.632	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		6	24	0	0	0	1	0	6	24				
SORCS1	114815	broad.mit.edu	37	10	108923961	108923961	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:108923961C>T	ENST00000263054.6	-	1	331	c.324G>A	c.(322-324)agG>agA	p.R108R	SORCS1_ENST00000344440.6_Silent_p.R108R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	108					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGCTCCGTCTCCTCCGGCCGG	0.706																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(322-324)agG>agA		sortilin-related VPS10 domain containing receptor 1							22.0	22.0	22.0					10																	108923961		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923961C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.324G>A	10.37:g.108923961C>T						SORCS1_ENST00000344440.6_Silent_p.R108R	p.R108R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	331	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	108					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.324G>A	CCDS7559.1																																																																																				0.706	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		8	31	0	0	0	1	0	8	31				
CTCF	10664	broad.mit.edu	37	16	67650654	67650654	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:67650654G>A	ENST00000264010.4	+	5	1403	c.959G>A	c.(958-960)cGt>cAt	p.R320H	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_5'UTR	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	320					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAGGTACTCGTCCTCACAAG	0.488																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(958-960)cGt>cAt		CCCTC-binding factor (zinc finger protein)							263.0	228.0	240.0					16																	67650654		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650654G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.959G>A	16.37:g.67650654G>A	ENSP00000264010:p.Arg320His					CTCF_ENST00000401394.1_5'UTR	p.R320H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1403	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	320					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.959G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052912	0.75960	.	.	ENSG00000102974	ENST00000264010	T	0.20332	2.08	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.082997	0.51477	D	0.000085	T	0.50326	0.1609	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.57911	-0.7729	10	0.62326	D	0.03	.	18.2991	0.90157	0.0:0.0:1.0:0.0	.	320	P49711	CTCF_HUMAN	H	320	ENSP00000264010:R320H	ENSP00000264010:R320H	R	+	2	0	CTCF	66208155	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.602000	0.82796	2.553000	0.86117	0.555000	0.69702	CGT		0.488	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		23	214	0	0	0	1	0	23	214				
ZNF212	7988	broad.mit.edu	37	7	148950826	148950826	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:148950826C>G	ENST00000335870.2	+	5	936	c.808C>G	c.(808-810)Cta>Gta	p.L270V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GGACTCTACTCTAGAGGAGCC	0.557																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(808-810)Cta>Gta		zinc finger protein 212							83.0	87.0	86.0					7																	148950826		2203	4300	6503	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148950826C>G	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.808C>G	7.37:g.148950826C>G	ENSP00000338572:p.Leu270Val						p.L270V	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		5	936	+	Melanoma(164;0.15)		270					B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.808C>G	CCDS5896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.308|3.308	-0.141477|-0.141477	0.06669|0.06669	.|.	.|.	ENSG00000170260|ENSG00000170260	ENST00000335870|ENST00000481584	T|.	0.06768|.	3.26|.	5.63|5.63	3.83|3.83	0.44106|0.44106	.|.	0.528659|.	0.15920|.	N|.	0.238157|.	T|T	0.32615|0.32615	0.0835|0.0835	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.24483|.	0.104|.	B|.	0.22386|.	0.039|.	T|T	0.18871|0.18871	-1.0323|-1.0323	10|5	0.12766|.	T|.	0.61|.	0.5401|0.5401	9.4887|9.4887	0.38946|0.38946	0.0:0.7777:0.1439:0.0784|0.0:0.7777:0.1439:0.0784	.|.	270|.	Q9UDV6|.	ZN212_HUMAN|.	V|C	270|183	ENSP00000338572:L270V|.	ENSP00000338572:L270V|.	L|S	+|+	1|2	2|0	ZNF212|ZNF212	148581759|148581759	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.024000|0.024000	0.10985|0.10985	-0.255000|-0.255000	0.08769|0.08769	0.736000|0.736000	0.32559|0.32559	0.655000|0.655000	0.94253|0.94253	CTA|TCT		0.557	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		16	80	0	0	0	1	0	16	80				
ETAA1	54465	broad.mit.edu	37	2	67631576	67631576	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:67631576G>A	ENST00000272342.5	+	5	1892	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	588						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATTTGCCAATGAAATTATTAA	0.348																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1762-1764)Gaa>Aaa		Ewing tumor-associated antigen 1							91.0	95.0	94.0					2																	67631576		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67631576G>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1762G>A	2.37:g.67631576G>A	ENSP00000272342:p.Glu588Lys					ETAA1_ENST00000462772.1_Intron	p.E588K	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	1892	+			588					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.1762G>A	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374715	0.82573	.	.	ENSG00000143971	ENST00000272342	T	0.31769	1.48	5.83	5.83	0.93111	.	0.065091	0.64402	D	0.000006	T	0.57080	0.2029	M	0.66939	2.045	0.47778	D	0.999515	D	0.89917	1.0	D	0.79784	0.993	T	0.54603	-0.8269	10	0.56958	D	0.05	-33.8915	20.1162	0.97934	0.0:0.0:1.0:0.0	.	588	Q9NY74	ETAA1_HUMAN	K	588	ENSP00000272342:E588K	ENSP00000272342:E588K	E	+	1	0	ETAA1	67485080	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	5.035000	0.64158	2.756000	0.94617	0.655000	0.94253	GAA		0.348	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		15	88	0	0	0	1	0	15	88				
HIPK2	28996	broad.mit.edu	37	7	139258011	139258011	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:139258011G>C	ENST00000406875.3	-	15	3353	c.3259C>G	c.(3259-3261)Ctg>Gtg	p.L1087V	HIPK2_ENST00000428878.2_Missense_Mutation_p.L1060V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1087	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCTGCAGCCAGATGCGGGTGC	0.706																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3259-3261)Ctg>Gtg		homeodomain interacting protein kinase 2							30.0	46.0	41.0					7																	139258011		2098	4222	6320	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139258011G>C	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3259C>G	7.37:g.139258011G>C	ENSP00000385571:p.Leu1087Val					HIPK2_ENST00000428878.2_Missense_Mutation_p.L1060V	p.L1087V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			15	3353	-	Melanoma(164;0.205)		1087			Autoinhibitory domain (AID).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3259C>G		.	.	.	.	.	.	.	.	.	.	G	13.11	2.139219	0.37728	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.59364	0.29;0.27	5.38	5.38	0.77491	.	.	.	.	.	T	0.71126	0.3303	.	.	.	0.44927	D	0.997943	D;D	0.67145	0.993;0.996	D;D	0.75484	0.967;0.986	T	0.68262	-0.5455	8	0.30078	T	0.28	.	12.1148	0.53860	0.124:0.0:0.876:0.0	.	1087;1060	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	V	1087;1060	ENSP00000385571:L1087V;ENSP00000413724:L1060V	ENSP00000385571:L1087V	L	-	1	2	HIPK2	138908551	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.295000	0.51794	2.532000	0.85374	0.655000	0.94253	CTG		0.706	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		9	56	0	0	0	1	0	9	56				
PLBD1	79887	broad.mit.edu	37	12	14689560	14689560	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:14689560C>T	ENST00000240617.5	-	5	1295	c.643G>A	c.(643-645)Ggc>Agc	p.G215S		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	215					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTAGGCTGCCGTTTTTTGTG	0.448																																						ENST00000240617.5																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(643-645)Ggc>Agc		phospholipase B domain containing 1							130.0	119.0	123.0					12																	14689560		2203	4300	6503	SO:0001583	missense	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14689560C>T	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.643G>A	12.37:g.14689560C>T	ENSP00000240617:p.Gly215Ser						p.G215S	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN			5	1295	-			215					A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	c.643G>A	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.571953	0.00895	.	.	ENSG00000121316	ENST00000240617	T	0.15372	2.43	5.63	-3.31	0.04988	.	1.575880	0.03025	N	0.151260	T	0.04724	0.0128	N	0.01446	-0.86	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34700	-0.9818	10	0.02654	T	1	-3.0E-4	5.3428	0.15992	0.2959:0.3913:0.0:0.3129	.	215	Q6P4A8	PLBL1_HUMAN	S	215	ENSP00000240617:G215S	ENSP00000240617:G215S	G	-	1	0	PLBD1	14580827	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.209000	0.09358	-0.515000	0.06479	-0.383000	0.06682	GGC		0.448	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		17	97	0	0	0	1	0	17	97				
MROH6	642475	broad.mit.edu	37	8	144654286	144654286	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:144654286C>T	ENST00000398882.3	-	2	620	c.364G>A	c.(364-366)Gag>Aag	p.E122K	NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	122																	AAGCCAGCCTCCTCCAGGCAG	0.662																																						ENST00000398882.3																			0											c.(364-366)Gag>Aag		maestro heat-like repeat family member 6							32.0	36.0	34.0					8																	144654286		2026	4181	6207	SO:0001583	missense	642475							g.chr8:144654286C>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.364G>A	8.37:g.144654286C>T	ENSP00000381857:p.Glu122Lys						p.E122K	NM_001100878.1	NP_001094348.1					2	620	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.364G>A	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787450	0.90367	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	T;T	0.26957	3.94;1.7	4.3	4.3	0.51218	.	.	.	.	.	T	0.30479	0.0766	N	0.14661	0.345	0.80722	D	1	D;D	0.64830	0.994;0.974	D;P	0.65773	0.938;0.671	T	0.12218	-1.0556	9	0.59425	D	0.04	-13.5051	12.1432	0.54008	0.0:1.0:0.0:0.0	.	122;122	E9PPP7;A6NGR9	.;CH073_HUMAN	K	122	ENSP00000381857:E122K;ENSP00000436959:E122K	ENSP00000381857:E122K	E	-	1	0	C8orf73	144725429	0.962000	0.33011	0.999000	0.59377	0.961000	0.63080	1.461000	0.35255	2.220000	0.72140	0.455000	0.32223	GAG		0.662	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		5	30	0	0	0	1	0	5	30				
KCNH2	3757	broad.mit.edu	37	7	150648846	150648846	+	Silent	SNP	G	G	A	rs200692436		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:150648846G>A	ENST00000262186.5	-	7	2036	c.1635C>T	c.(1633-1635)taC>taT	p.Y545Y	KCNH2_ENST00000392968.2_Silent_p.Y449Y|KCNH2_ENST00000430723.3_Silent_p.Y545Y|KCNH2_ENST00000330883.4_Silent_p.Y205Y	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	545					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CGGCCGCGCCGTACTCTGAGT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15426	0.001		0.0	False		,,,				2504	0.0				GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1345-1347)taC>taT		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						55.0	47.0	50.0					7																	150648846		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648846G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1635C>T	7.37:g.150648846G>A						KCNH2_ENST00000262186.5_Silent_p.Y545Y|KCNH2_ENST00000430723.3_Silent_p.Y545Y|KCNH2_ENST00000330883.4_Silent_p.Y205Y	p.Y449Y			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	2467	-	all_neural(206;0.219)		545					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.1347C>T	CCDS5910.1																																																																																				0.647	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		6	33	0	0	0	1	0	6	33				
RYR2	6262	broad.mit.edu	37	1	237802319	237802319	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:237802319G>C	ENST00000366574.2	+	46	7250	c.6933G>C	c.(6931-6933)gaG>gaC	p.E2311D	RYR2_ENST00000542537.1_Missense_Mutation_p.E2295D|RYR2_ENST00000360064.6_Missense_Mutation_p.E2309D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2311	4 X approximate repeats.		E -> D (in CPVT1). {ECO:0000269|PubMed:12093772}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTAGGGGAGAGTGTGGAGG	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	GRCh37	CM024368	RYR2	M		c.(6931-6933)gaG>gaC		ryanodine receptor 2 (cardiac)							125.0	123.0	123.0					1																	237802319		1884	4117	6001	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802319G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6933G>C	1.37:g.237802319G>C	ENSP00000355533:p.Glu2311Asp					RYR2_ENST00000360064.6_Missense_Mutation_p.E2309D|RYR2_ENST00000542537.1_Missense_Mutation_p.E2295D	p.E2311D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		46	7250	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2311		E -> D (in CPVT1).	4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6933G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152582	0.57259	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96104	-3.91;-3.91;-3.91	5.05	1.81	0.25067	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000005	D	0.96800	0.8955	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95260	0.8368	10	0.87932	D	0	-17.0922	8.2611	0.31786	0.4421:0.0:0.5579:0.0	.	2311	Q92736	RYR2_HUMAN	D	2311;2309;2295	ENSP00000355533:E2311D;ENSP00000353174:E2309D;ENSP00000443798:E2295D	ENSP00000353174:E2309D	E	+	3	2	RYR2	235868942	0.999000	0.42202	1.000000	0.80357	0.805000	0.45488	0.590000	0.23954	0.134000	0.18681	0.561000	0.74099	GAG		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	28	0	0	0	1	0	3	28				
OR2T2	401992	broad.mit.edu	37	1	248616180	248616180	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:248616180C>G	ENST00000342927.3	+	1	104	c.82C>G	c.(82-84)Ctc>Gtc	p.L28V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCCGGGCTTCTCTTTGCAAT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(82-84)Ctc>Gtc		olfactory receptor, family 2, subfamily T, member 2							213.0	234.0	227.0					1																	248616180		2202	4300	6502	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616180C>G	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.82C>G	1.37:g.248616180C>G	ENSP00000343062:p.Leu28Val						p.L28V	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	104	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		28					B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.82C>G	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	8.382	0.837761	0.16891	.	.	ENSG00000196240	ENST00000342927	T	0.16743	2.32	3.2	-3.98	0.04082	.	0.276692	0.25523	N	0.030098	T	0.18299	0.0439	M	0.83852	2.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29058	-1.0024	10	0.39692	T	0.17	.	9.3707	0.38252	0.2477:0.6519:0.1004:0.0	.	28	Q6IF00	OR2T2_HUMAN	V	28	ENSP00000343062:L28V	ENSP00000343062:L28V	L	+	1	0	OR2T2	246682803	0.000000	0.05858	0.004000	0.12327	0.298000	0.27526	-0.219000	0.09228	-0.444000	0.07170	-0.873000	0.02984	CTC		0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		24	233	0	0	0	1	0	24	233				
FAM193B	54540	broad.mit.edu	37	5	176959554	176959554	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:176959554C>T	ENST00000514747.1	-	5	1213	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000443375.2_Missense_Mutation_p.E276K	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	389						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TCCTCTTCCTCACCCAGCCCC	0.607																																						ENST00000443375.2																			0				kidney(1)|large_intestine(3)	4						c.(826-828)Gag>Aag		family with sequence similarity 193, member B							24.0	29.0	27.0					5																	176959554		2038	4216	6254	SO:0001583	missense	54540							g.chr5:176959554C>T		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1165G>A	5.37:g.176959554C>T	ENSP00000422131:p.Glu389Lys					FAM193B_ENST00000508298.1_5'UTR|FAM193B_ENST00000514747.1_Missense_Mutation_p.E389K|FAM193B_ENST00000329540.5_5'UTR	p.E276K			Q6IPW0	Q6IPW0_HUMAN			6	2384	-			414					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.826G>A	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860387	0.91433	.	.	ENSG00000146067	ENST00000514747;ENST00000443375	T;T	0.75154	-0.91;-0.91	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000003	D	0.82751	0.5105	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.98	T	0.80982	-0.1139	10	0.35671	T	0.21	-10.4085	18.9099	0.92479	0.0:1.0:0.0:0.0	.	389;276	E9PET5;E9PEZ8	.;.	K	389;276	ENSP00000422131:E389K;ENSP00000410098:E276K	ENSP00000410098:E276K	E	-	1	0	FAM193B	176892160	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.417000	0.80156	2.462000	0.83206	0.467000	0.42956	GAG		0.607	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		4	9	0	0	0	1	0	4	9				
ARHGAP24	83478	broad.mit.edu	37	4	86844894	86844894	+	Missense_Mutation	SNP	G	G	A	rs371691470		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:86844894G>A	ENST00000395184.1	+	4	828	c.362G>A	c.(361-363)cGc>cAc	p.R121H	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.R121H|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R26H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	121	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGTCAATCCGCCGAGTCATA	0.483																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(361-363)cGc>cAc		Rho GTPase activating protein 24		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	91.0	95.0		362,77	6.2	1.0	4		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGAP24	NM_001025616.2,NM_001042669.1	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	121/749,26/654	86844894	2,13004	2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86844894G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.362G>A	4.37:g.86844894G>A	ENSP00000378611:p.Arg121His					ARHGAP24_ENST00000503995.1_Missense_Mutation_p.R121H|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R26H	p.R121H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	4	828	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	121			PH.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.362G>A	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449815	0.84101	2.27E-4	1.16E-4	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000512201;ENST00000395183;ENST00000514229	T;T;T;T;T	0.19394	2.58;2.58;2.15;2.15;2.15	6.17	6.17	0.99709	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.050333	0.85682	D	0.000000	T	0.45538	0.1347	M	0.69248	2.105	0.80722	D	1	B;D;B	0.57899	0.246;0.981;0.446	B;P;B	0.60236	0.198;0.871;0.125	T	0.10965	-1.0607	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	26;121;121	Q8N264-3;Q8N264;Q8N264-4	.;RHG24_HUMAN;.	H	121;121;26;26;36	ENSP00000378611:R121H;ENSP00000423206:R121H;ENSP00000426105:R26H;ENSP00000378610:R26H;ENSP00000425589:R36H	ENSP00000378610:R26H	R	+	2	0	ARHGAP24	87063918	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.978000	0.88095	2.941000	0.99782	0.655000	0.94253	CGC		0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		6	48	0	0	0	1	0	6	48				
KCNMB2	10242	broad.mit.edu	37	3	178560474	178560474	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:178560474G>A	ENST00000432997.1	+	5	809	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	KCNMB2_ENST00000452583.1_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.E153K|KCNMB2_ENST00000358316.3_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000451742.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	165					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	AAAAAATTTTGAAGAATCCAT	0.398																																						ENST00000432997.1																			0				NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(457-459)Gaa>Aaa		potassium large conductance calcium-activated channel, subfamily M, beta member 2							83.0	85.0	84.0					3																	178560474		2203	4300	6503	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178560474G>A	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.457G>A	3.37:g.178560474G>A	ENSP00000407592:p.Glu153Lys					RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.E153K|KCNMB2_ENST00000358316.3_Missense_Mutation_p.E153K|RP11-385J1.2_ENST00000451742.1_RNA	p.E153K	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		5	809	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		153					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.457G>A	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	G	7.647	0.682026	0.14907	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	6.06	6.06	0.98353	.	0.139475	0.64402	D	0.000004	T	0.06234	0.0161	N	0.03608	-0.345	0.43149	D	0.994917	B	0.14805	0.011	B	0.15870	0.014	T	0.43653	-0.9378	10	0.10377	T	0.69	-20.4646	20.6208	0.99490	0.0:0.0:1.0:0.0	.	153	Q9Y691	KCMB2_HUMAN	K	153;153;153;153;134	ENSP00000408252:E153K;ENSP00000397483:E153K;ENSP00000407592:E153K;ENSP00000351068:E153K	ENSP00000351068:E153K	E	+	1	0	KCNMB2	180043168	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.062000	0.64326	2.882000	0.98803	0.655000	0.94253	GAA		0.398	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		35	98	0	0	0	1	0	35	98				
CEP192	55125	broad.mit.edu	37	18	13113697	13113697	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr18:13113697C>G	ENST00000325971.8	+	39	6965	c.5372C>G	c.(5371-5373)tCt>tGt	p.S1791C	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.S2387C|CEP192_ENST00000430049.2_Missense_Mutation_p.S1912C			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1791					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCCAACTCTCTGGACAAGTG	0.378																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7159-7161)tCt>tGt		centrosomal protein 192kDa							66.0	63.0	64.0					18																	13113697		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13113697C>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5372C>G	18.37:g.13113697C>G	ENSP00000317156:p.Ser1791Cys					CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.S1912C|CEP192_ENST00000325971.8_Missense_Mutation_p.S1791C	p.S2387C	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			41	7240	+			1982					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.7160C>G		.	.	.	.	.	.	.	.	.	.	C	7.424	0.637342	0.14386	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06449	3.3;3.31;3.31	5.39	3.55	0.40652	.	0.239909	0.41712	N	0.000837	T	0.07369	0.0186	L	0.39898	1.24	0.32828	D	0.5036	B;B;B;B	0.23249	0.082;0.033;0.02;0.001	B;B;B;B	0.22386	0.039;0.023;0.016;0.006	T	0.05131	-1.0904	10	0.26408	T	0.33	-15.4071	16.1083	0.81241	0.0:0.4778:0.5222:0.0	.	1912;2387;391;989	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	C	2387;1791;1791;1912;391	ENSP00000427550:S2387C;ENSP00000317156:S1791C;ENSP00000389190:S1912C	ENSP00000317156:S1791C	S	+	2	0	CEP192	13103697	1.000000	0.71417	0.990000	0.47175	0.353000	0.29299	2.191000	0.42640	0.603000	0.29913	0.462000	0.41574	TCT		0.378	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	25	0	0	0	1	0	8	25				
KMT2B	9757	broad.mit.edu	37	19	36211939	36211939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:36211939C>T	ENST00000222270.7	+	3	1690	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.R564*|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Intron	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	564	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACCTGTCCTGCGACCTCCCAT	0.622																																						ENST00000420124.1																			0											c.(1690-1692)Cga>Tga									42.0	49.0	47.0					19																	36211939		2012	4178	6190	SO:0001587	stop_gained	9757							g.chr19:36211939C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1690C>T	19.37:g.36211939C>T	ENSP00000222270:p.Arg564*					WBP7_ENST00000222270.7_Nonsense_Mutation_p.R564*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Intron	p.R564*							3	1690	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.1690C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117349	0.77323	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	4.62	2.4	0.29515	.	0.279707	0.19270	N	0.118451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6993	0.34316	0.3013:0.5523:0.1464:0.0	.	.	.	.	X	564	.	ENSP00000222270:R564X	R	+	1	2	AD000671.1	40903779	0.000000	0.05858	0.938000	0.37757	0.442000	0.32017	0.045000	0.14013	0.520000	0.28426	0.555000	0.69702	CGA		0.622	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		8	6	0	0	0	1	0	8	6				
RRNAD1	51093	broad.mit.edu	37	1	156704058	156704058	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:156704058G>A	ENST00000368216.4	+	6	1524	c.894G>A	c.(892-894)ctG>ctA	p.L298L	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	298						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GCTACCCACTGAGTCAGTGGG	0.622																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(892-894)ctG>ctA		ribosomal RNA adenine dimethylase domain containing 1							59.0	56.0	57.0					1																	156704058		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156704058G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.894G>A	1.37:g.156704058G>A						RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	p.L298L	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			6	1524	+			298					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Silent	SNP	ENST00000368216.4	37	c.894G>A	CCDS1154.1																																																																																				0.622	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		13	46	0	0	0	1	0	13	46				
DMPK	1760	broad.mit.edu	37	19	46281393	46281393	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:46281393C>G	ENST00000291270.4	-	6	792	c.667G>C	c.(667-669)Gat>Cat	p.D223H	DMPK_ENST00000447742.2_Missense_Mutation_p.D223H|DMPK_ENST00000354227.5_Missense_Mutation_p.D223H|DMPK_ENST00000458663.2_Missense_Mutation_p.D223H|DMPK_ENST00000600757.1_Missense_Mutation_p.D233H|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000343373.4_Missense_Mutation_p.D233H	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		ACCGTTCCATCTGCCCGCAGC	0.617																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(697-699)Gat>Cat		dystrophia myotonica-protein kinase							50.0	37.0	41.0					19																	46281393		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281393C>G	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.667G>C	19.37:g.46281393C>G	ENSP00000291270:p.Asp223His					DMPK_ENST00000458663.2_Missense_Mutation_p.D223H|DMPK_ENST00000291270.4_Missense_Mutation_p.D223H|DMPK_ENST00000343373.4_Missense_Mutation_p.D233H|DMPK_ENST00000354227.5_Missense_Mutation_p.D223H|DMPK_ENST00000447742.2_Missense_Mutation_p.D223H	p.D233H			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	5	1384	-		Ovarian(192;0.0308)|all_neural(266;0.112)	233			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.697G>C	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.252331	0.80135	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	4.53	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42682	D	0.000675	T	0.61048	0.2316	M	0.65320	2	0.80722	D	1	P;D;D;D;D;D;D;D	0.89917	0.65;1.0;0.998;0.999;1.0;0.999;1.0;0.999	B;D;D;D;D;D;D;D	0.81914	0.426;0.96;0.91;0.976;0.99;0.946;0.995;0.961	T	0.64807	-0.6320	10	0.72032	D	0.01	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	223;223;249;223;223;223;270;233	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	H	223;249;223;223;223;233;233;223	ENSP00000401753:D223H;ENSP00000291270:D223H;ENSP00000413417:D223H;ENSP00000345997:D233H;ENSP00000346168:D223H	ENSP00000291270:D223H	D	-	1	0	DMPK	50973233	1.000000	0.71417	0.837000	0.33122	0.714000	0.41099	5.827000	0.69300	2.330000	0.79161	0.650000	0.86243	GAT		0.617	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		4	12	0	0	0	1	0	4	12				
SLC2A12	154091	broad.mit.edu	37	6	134312437	134312437	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:134312437C>T	ENST00000275230.5	-	5	1865	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	570					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGTTGTTTTTCACATAGTTCC	0.368																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1708-1710)gtG>gtA		solute carrier family 2 (facilitated glucose transporter), member 12							90.0	95.0	93.0					6																	134312437		2203	4300	6503	SO:0001819	synonymous_variant	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134312437C>T	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1710G>A	6.37:g.134312437C>T							p.V570V	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	5	1865	-	Breast(56;0.214)|Colorectal(23;0.221)		570					B3KV17|Q7Z6U3|Q96MR8	Silent	SNP	ENST00000275230.5	37	c.1710G>A	CCDS5169.1																																																																																				0.368	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			10	75	0	0	0	1	0	10	75				
SEMA4G	57715	broad.mit.edu	37	10	102739712	102739712	+	Missense_Mutation	SNP	G	G	A	rs199677082		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:102739712G>A	ENST00000370250.4	+	9	1464	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R364H|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R364H	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	364	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGCTGGGGTCGCTATGAGGGT	0.637																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1090-1092)cGc>cAc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							88.0	98.0	95.0					10																	102739712		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102739712G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1091G>A	10.37:g.102739712G>A	ENSP00000359270:p.Arg364His					MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R364H|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R364H	p.R364H			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	9	1169	+		Colorectal(252;0.234)	364			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.1091G>A		.	.	.	.	.	.	.	.	.	.	G	21.4	4.147926	0.78001	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.59	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.158916	0.64402	D	0.000018	T	0.32346	0.0826	M	0.76170	2.325	0.41841	D	0.990126	D;D;D	0.89917	0.998;1.0;0.999	P;D;D	0.75020	0.899;0.985;0.945	T	0.06899	-1.0801	10	0.48119	T	0.1	.	14.6714	0.68948	0.0:0.0:0.8537:0.1463	.	364;364;364	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	H	364	ENSP00000428896:R364H;ENSP00000359270:R364H;ENSP00000430175:R364H;ENSP00000210633:R364H	ENSP00000210633:R364H	R	+	2	0	SEMA4G	102729702	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.372000	0.59530	1.301000	0.44836	0.484000	0.47621	CGC		0.637	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			20	147	0	0	0	1	0	20	147				
TMEM132D	121256	broad.mit.edu	37	12	130185231	130185231	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:130185231C>A	ENST00000422113.2	-	2	418	c.92G>T	c.(91-93)cGa>cTa	p.R31L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	31					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAGGATCCCTCGACCTTCCGT	0.547																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(91-93)cGa>cTa		transmembrane protein 132D							104.0	70.0	82.0					12																	130185231		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130185231C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.92G>T	12.37:g.130185231C>A	ENSP00000408581:p.Arg31Leu						p.R31L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	418	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	31					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.92G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818843	0.50633	.	.	ENSG00000151952	ENST00000422113	T	0.12984	2.63	5.33	5.33	0.75918	.	0.000000	0.51477	D	0.000099	T	0.39358	0.1075	M	0.74881	2.28	0.33317	D	0.566849	D	0.76494	0.999	D	0.70487	0.969	T	0.49890	-0.8891	9	.	.	.	-15.2117	19.0288	0.92946	0.0:1.0:0.0:0.0	.	31	Q14C87	T132D_HUMAN	L	31	ENSP00000408581:R31L	.	R	-	2	0	TMEM132D	128751184	0.999000	0.42202	0.470000	0.27216	0.206000	0.24218	4.193000	0.58385	2.472000	0.83506	0.555000	0.69702	CGA		0.547	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	54	1	0	1	1	1	5	54				
MAB21L1	4081	broad.mit.edu	37	13	36049604	36049604	+	Silent	SNP	C	C	T	rs577985182		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:36049604C>T	ENST00000379919.4	-	1	1228	c.672G>A	c.(670-672)tcG>tcA	p.S224S	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	224					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CGCTCTCCGCCGAGCTCTGCT	0.612																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(670-672)tcG>tcA		mab-21-like 1 (C. elegans)							51.0	57.0	55.0					13																	36049604		2203	4299	6502	SO:0001819	synonymous_variant	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049604C>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.672G>A	13.37:g.36049604C>T						NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.S224S	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1228	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	224					Q6I9T5	Silent	SNP	ENST00000379919.4	37	c.672G>A	CCDS9353.1																																																																																				0.612	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		11	94	0	0	0	1	0	11	94				
HHAT	55733	broad.mit.edu	37	1	210637960	210637960	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:210637960G>A	ENST00000367010.1	+	8	1195	c.968G>A	c.(967-969)cGc>cAc	p.R323H	HHAT_ENST00000541565.1_Missense_Mutation_p.R186H|HHAT_ENST00000308852.6_Missense_Mutation_p.R278H|HHAT_ENST00000537898.1_Missense_Mutation_p.R258H|HHAT_ENST00000367009.1_Missense_Mutation_p.R13H|HHAT_ENST00000545154.1_Missense_Mutation_p.R324H|HHAT_ENST00000545781.1_Missense_Mutation_p.R260H|HHAT_ENST00000261458.3_Missense_Mutation_p.R323H|HHAT_ENST00000391905.3_Missense_Mutation_p.R323H|HHAT_ENST00000413764.2_Missense_Mutation_p.R323H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	323					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCCCTCCCCCGCTGCGTGAGC	0.592																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(967-969)cGc>cAc		hedgehog acyltransferase							103.0	94.0	97.0					1																	210637960		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637960G>A	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.968G>A	1.37:g.210637960G>A	ENSP00000355977:p.Arg323His					HHAT_ENST00000391905.3_Missense_Mutation_p.R323H|HHAT_ENST00000261458.3_Missense_Mutation_p.R323H|HHAT_ENST00000308852.6_Missense_Mutation_p.R278H|HHAT_ENST00000413764.2_Missense_Mutation_p.R323H|HHAT_ENST00000545781.1_Missense_Mutation_p.R260H|HHAT_ENST00000367009.1_Missense_Mutation_p.R13H|HHAT_ENST00000545154.1_Missense_Mutation_p.R324H|HHAT_ENST00000541565.1_Missense_Mutation_p.R186H|HHAT_ENST00000537898.1_Missense_Mutation_p.R258H	p.R323H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1195	+			323					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.968G>A	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267319	0.95399	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968;ENST00000367009	T;T;T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.99;0.986;0.993;0.996;0.996	D	0.83757	0.0212	10	0.46703	T	0.11	-26.2803	18.3096	0.90194	0.0:0.0:1.0:0.0	.	278;324;186;258;323	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	H	323;186;324;258;323;260;323;278;323;195;13	ENSP00000416845:R323H;ENSP00000444995:R186H;ENSP00000438468:R324H;ENSP00000442625:R258H;ENSP00000375773:R323H;ENSP00000439229:R260H;ENSP00000261458:R323H;ENSP00000308628:R278H;ENSP00000355977:R323H;ENSP00000413399:R195H;ENSP00000355976:R13H	ENSP00000261458:R323H	R	+	2	0	HHAT	208704583	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	9.042000	0.93793	2.614000	0.88457	0.555000	0.69702	CGC		0.592	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		11	65	0	0	0	1	0	11	65				
PKP4	8502	broad.mit.edu	37	2	159519946	159519946	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:159519946G>C	ENST00000389759.3	+	15	2678	c.2566G>C	c.(2566-2568)Ggc>Cgc	p.G856R	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389757.3_Missense_Mutation_p.G856R	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	856				G -> S (in Ref. 1; CAA57478). {ECO:0000305}.	cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTCTCTGCTGGCAACTGGAA	0.453										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2566-2568)Ggc>Cgc		plakophilin 4							56.0	58.0	57.0					2																	159519946		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159519946G>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2566G>C	2.37:g.159519946G>C	ENSP00000374409:p.Gly856Arg	HNSCC(62;0.18)				PKP4_ENST00000389759.3_Missense_Mutation_p.G856R|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA	p.G856R	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			15	2691	+			856	G -> S (in Ref. 1; CAA57478).				Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2566G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846403	0.91277	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.48522	0.81;0.81	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.050796	0.85682	D	0.000000	T	0.75102	0.3804	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	T	0.78682	-0.2109	10	0.87932	D	0	-11.6906	19.9857	0.97347	0.0:0.0:1.0:0.0	.	811;856;856	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	R	856	ENSP00000374407:G856R;ENSP00000374409:G856R	ENSP00000374407:G856R	G	+	1	0	PKP4	159228192	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.869000	0.99810	2.706000	0.92434	0.655000	0.94253	GGC		0.453	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			8	50	0	0	0	1	0	8	50				
GHSR	2693	broad.mit.edu	37	3	172166087	172166087	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:172166087G>A	ENST00000241256.2	-	1	159	c.117C>T	c.(115-117)ccC>ccT	p.P39P	GHSR_ENST00000427970.1_Silent_p.P39P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	39					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCAGCGGCGCGGGGAAGAGCT	0.687																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(115-117)ccC>ccT		growth hormone secretagogue receptor							22.0	24.0	23.0					3																	172166087		2195	4288	6483	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172166087G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.117C>T	3.37:g.172166087G>A						GHSR_ENST00000427970.1_Silent_p.P39P	p.P39P	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	159	-	Ovarian(172;0.00143)|Breast(254;0.197)		39					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.117C>T	CCDS3218.1																																																																																				0.687	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		7	42	0	0	0	1	0	7	42				
PENK	5179	broad.mit.edu	37	8	57354189	57354189	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:57354189G>A	ENST00000314922.3	-	2	522	c.446C>T	c.(445-447)tCg>tTg	p.S149L	PENK_ENST00000451791.2_Missense_Mutation_p.S149L|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	149					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ATTGGCCAGCGAGTCGTCCTC	0.537																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(445-447)tCg>tTg		proenkephalin							110.0	106.0	107.0					8																	57354189		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354189G>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.446C>T	8.37:g.57354189G>A	ENSP00000324248:p.Ser149Leu					PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.S149L	p.S149L	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	522	-		all_lung(136;0.229)	149					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.446C>T	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	G	8.093	0.774989	0.16051	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.18502	2.21;2.21	5.81	3.03	0.35002	.	1.076190	0.06964	N	0.816962	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.30179	0.271	B	0.18871	0.023	T	0.34576	-0.9823	10	0.45353	T	0.12	0.0177	9.2577	0.37593	0.0729:0.2752:0.6519:0.0	.	149	P01210	PENK_HUMAN	L	149	ENSP00000324248:S149L;ENSP00000400894:S149L	ENSP00000324248:S149L	S	-	2	0	PENK	57516743	0.000000	0.05858	0.006000	0.13384	0.044000	0.14063	0.949000	0.29109	0.357000	0.24183	0.655000	0.94253	TCG		0.537	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			21	99	0	0	0	1	0	21	99				
CECR2	27443	broad.mit.edu	37	22	18022239	18022239	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:18022239C>T	ENST00000400585.2	+	16	2356	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C	CECR2_ENST00000262608.8_Missense_Mutation_p.R782C|CECR2_ENST00000400573.5_Missense_Mutation_p.R781C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	823					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCACCAGCCTCGCACTCTCGG	0.592																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2344-2346)Cgc>Tgc		cat eye syndrome chromosome region, candidate 2							58.0	63.0	62.0					22																	18022239		2023	4168	6191	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022239C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1918C>T	22.37:g.18022239C>T	ENSP00000383428:p.Arg640Cys					CECR2_ENST00000400585.2_Missense_Mutation_p.R640C|CECR2_ENST00000400573.4_Missense_Mutation_p.R781C	p.R782C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2344	+		all_epithelial(15;0.139)	823					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2344C>T		.	.	.	.	.	.	.	.	.	.	C	15.01	2.706723	0.48412	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.30714	1.62;1.62;1.52	5.29	4.27	0.50696	.	0.303339	0.25324	N	0.031487	T	0.42539	0.1207	M	0.62723	1.935	0.42441	D	0.992716	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.53185	0.549;0.72;0.72	T	0.40534	-0.9558	10	0.51188	T	0.08	-3.3087	12.5221	0.56065	0.0:0.923:0.0:0.077	.	823;640;781	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	C	640;781;782	ENSP00000383428:R640C;ENSP00000383417:R781C;ENSP00000262608:R782C	ENSP00000262608:R782C	R	+	1	0	CECR2	16402239	0.984000	0.35163	0.360000	0.25837	0.258000	0.26162	2.806000	0.47947	1.469000	0.48083	-0.291000	0.09656	CGC		0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		9	47	0	0	0	1	0	9	47				
ZBBX	79740	broad.mit.edu	37	3	167023497	167023497	+	Silent	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:167023497G>T	ENST00000392766.2	-	17	1999	c.1659C>A	c.(1657-1659)tcC>tcA	p.S553S	ZBBX_ENST00000392767.2_Silent_p.S553S|ZBBX_ENST00000392764.1_Silent_p.S524S|ZBBX_ENST00000307529.5_Silent_p.S553S|ZBBX_ENST00000455345.2_Silent_p.S553S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	553						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAATTCCAAGGATTCTTTGA	0.328																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1657-1659)tcC>tcA		zinc finger, B-box domain containing							72.0	64.0	67.0					3																	167023497		1810	4065	5875	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167023497G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1659C>A	3.37:g.167023497G>T						ZBBX_ENST00000392767.2_Silent_p.S553S|ZBBX_ENST00000455345.2_Silent_p.S553S|ZBBX_ENST00000307529.5_Silent_p.S553S|ZBBX_ENST00000392764.1_Silent_p.S524S	p.S553S	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			17	1999	-			553					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.1659C>A	CCDS3199.2																																																																																				0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		4	59	1	0	0.014758	1	0.0149651	4	59				
NCAM1	4684	broad.mit.edu	37	11	113130973	113130973	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:113130973G>A	ENST00000533760.1	+	16	2274	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.E677K	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	687	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CGTGGTGGCTGAGAACCAGCA	0.557																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(2029-2031)Gag>Aag		neural cell adhesion molecule 1							109.0	119.0	116.0					11																	113130973		1980	4145	6125	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113130973G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1675G>A	11.37:g.113130973G>A	ENSP00000473281:p.Glu559Lys					NCAM1_ENST00000533760.1_Missense_Mutation_p.E559K|NCAM1_ENST00000397957.4_3'UTR	p.E677K	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	15	2029	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	687			Fibronectin type-III 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.2029G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.268025	0.95429	.	.	ENSG00000149294	ENST00000531044;ENST00000316851;ENST00000433634	T	0.56776	0.44	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.64951	0.2645	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.55724	-0.8096	9	0.07813	T	0.8	-36.1371	19.5989	0.95551	0.0:0.0:1.0:0.0	.	559;677;687;712	E9PLH7;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	K	559;677;142	ENSP00000318472:E677K	ENSP00000318472:E677K	E	+	1	0	NCAM1	112636183	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.476000	0.97823	2.639000	0.89480	0.561000	0.74099	GAG		0.557	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		13	81	0	0	0	1	0	13	81				
BCL6	604	broad.mit.edu	37	3	187447612	187447612	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:187447612G>C	ENST00000406870.2	-	5	947	c.581C>G	c.(580-582)tCt>tGt	p.S194C	BCL6_ENST00000232014.4_Missense_Mutation_p.S194C|BCL6_ENST00000450123.2_Missense_Mutation_p.S194C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	194					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATGGAATAAGAGGCTGGCGG	0.617			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(580-582)tCt>tGt		B-cell CLL/lymphoma 6							55.0	55.0	55.0					3																	187447612		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447612G>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.581C>G	3.37:g.187447612G>C	ENSP00000384371:p.Ser194Cys					BCL6_ENST00000232014.4_Missense_Mutation_p.S194C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S194C	p.S194C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	947	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		194					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.581C>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499479	0.85069	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.09538	2.98;2.98;2.97	5.47	5.47	0.80525	.	0.196676	0.53938	D	0.000047	T	0.29914	0.0748	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.77557	0.984;0.99	T	0.00335	-1.1808	10	0.72032	D	0.01	.	18.7638	0.91864	0.0:0.0:1.0:0.0	.	194;194	B8PSA7;P41182	.;BCL6_HUMAN	C	194	ENSP00000384371:S194C;ENSP00000232014:S194C;ENSP00000413122:S194C	ENSP00000232014:S194C	S	-	2	0	BCL6	188930306	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.253000	0.78320	2.764000	0.94973	0.556000	0.70494	TCT		0.617	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		12	78	0	0	0	1	0	12	78				
RFX7	64864	broad.mit.edu	37	15	56393610	56393610	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:56393610T>C	ENST00000559447.2	-	7	738	c.467A>G	c.(466-468)tAt>tGt	p.Y156C	RFX7_ENST00000422057.1_Missense_Mutation_p.Y156C|RFX7_ENST00000423270.1_Missense_Mutation_p.Y253C|RFX7_ENST00000317318.6_Missense_Mutation_p.Y253C			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	156					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGCCTATATAGTGACTTTT	0.453																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(757-759)tAt>tGt		regulatory factor X, 7							65.0	64.0	64.0					15																	56393610		1916	4126	6042	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56393610T>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.467A>G	15.37:g.56393610T>C	ENSP00000453281:p.Tyr156Cys					RFX7_ENST00000317318.6_Missense_Mutation_p.Y253C|RFX7_ENST00000422057.1_Missense_Mutation_p.Y156C|RFX7_ENST00000559447.2_Missense_Mutation_p.Y156C	p.Y253C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			7	757	-			156					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.758A>G		.	.	.	.	.	.	.	.	.	.	T	18.16	3.562524	0.65538	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.55413	0.52;0.52;0.52	5.67	3.37	0.38596	.	0.173307	0.40640	N	0.001060	T	0.51856	0.1699	N	0.24115	0.695	0.52501	D	0.999958	D;B	0.57257	0.979;0.013	P;B	0.60609	0.877;0.004	T	0.49093	-0.8975	10	0.51188	T	0.08	-0.8138	9.3003	0.37842	0.0:0.146:0.0:0.854	.	156;156	Q2KHR2;C9JU50	RFX7_HUMAN;.	C	156;253;253	ENSP00000387504:Y156C;ENSP00000313299:Y253C;ENSP00000397644:Y253C	ENSP00000313299:Y253C	Y	-	2	0	RFX7	54180902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.541000	0.53618	0.427000	0.26145	0.528000	0.53228	TAT		0.453	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		6	19	0	0	0	1	0	6	19				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	97	0	0	0	1	0	4	97				
SLC5A10	125206	broad.mit.edu	37	17	18922828	18922828	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:18922828C>T	ENST00000395645.3	+	12	1352	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	SLC5A10_ENST00000395647.2_Missense_Mutation_p.S461L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.S418L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.S415L|SLC5A10_ENST00000417251.2_Missense_Mutation_p.S409L|SLC5A10_ENST00000317977.6_Missense_Mutation_p.S415L	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	445					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TACATGCAGTCAGTGACCAGC	0.632																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1243-1245)tCa>tTa		solute carrier family 5 (sodium/sugar cotransporter), member 10							78.0	66.0	70.0					17																	18922828		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18922828C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1334C>T	17.37:g.18922828C>T	ENSP00000379007:p.Ser445Leu					SLC5A10_ENST00000417251.2_Missense_Mutation_p.S409L|SLC5A10_ENST00000395643.2_Missense_Mutation_p.S418L|SLC5A10_ENST00000395645.3_Missense_Mutation_p.S445L|SLC5A10_ENST00000395647.2_Missense_Mutation_p.S461L|SLC5A10_ENST00000395642.1_Missense_Mutation_p.S415L	p.S415L			A0PJK1	SC5AA_HUMAN			12	1815	+			445					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.1244C>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715878	0.68844	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.87334	-2.17;-2.17;-2.17;-2.24;-2.17;-2.17	4.49	3.5	0.40072	.	0.208515	0.42821	D	0.000651	D	0.89629	0.6770	M	0.73430	2.235	0.58432	D	0.999994	P;P;P;P;P	0.44946	0.787;0.748;0.787;0.841;0.846	P;P;P;P;B	0.52267	0.694;0.568;0.694;0.568;0.426	D	0.90194	0.4252	10	0.62326	D	0.03	.	11.027	0.47751	0.0:0.9004:0.0:0.0996	.	409;418;445;461;415	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	L	415;461;415;409;445;418	ENSP00000324346:S415L;ENSP00000379008:S461L;ENSP00000379004:S415L;ENSP00000401875:S409L;ENSP00000379007:S445L;ENSP00000379005:S418L	ENSP00000324346:S415L	S	+	2	0	SLC5A10	18863553	1.000000	0.71417	0.991000	0.47740	0.877000	0.50540	5.845000	0.69437	2.201000	0.70794	0.561000	0.74099	TCA		0.632	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		4	27	0	0	0	1	0	4	27				
WNT8B	7479	broad.mit.edu	37	10	102239703	102239703	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:102239703G>T	ENST00000343737.5	+	3	303	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	59					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GTATCAGTTTGCCTGGGACCG	0.547																																						ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(175-177)Gcc>Tcc		wingless-type MMTV integration site family, member 8B							91.0	86.0	88.0					10																	102239703		2203	4300	6503	SO:0001583	missense	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102239703G>T	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.175G>T	10.37:g.102239703G>T	ENSP00000340677:p.Ala59Ser						p.A59S	NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	3	303	+		Colorectal(252;0.117)	59					O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	c.175G>T	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658370	0.47467	.	.	ENSG00000075290	ENST00000343737	T	0.75154	-0.91	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	N	0.25380	0.74	0.58432	D	0.999999	B	0.33135	0.399	B	0.39531	0.302	T	0.72253	-0.4347	10	0.72032	D	0.01	.	19.4967	0.95075	0.0:0.0:1.0:0.0	.	59	Q93098	WNT8B_HUMAN	S	59	ENSP00000340677:A59S	ENSP00000340677:A59S	A	+	1	0	WNT8B	102229693	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	7.637000	0.83313	2.610000	0.88304	0.555000	0.69702	GCC		0.547	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		7	50	1	0	5.18039e-06	1	5.64956e-06	7	50				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			96610							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	41	0	0	0	1	0	4	41				
CYP4A11	1579	broad.mit.edu	37	1	47400197	47400197	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:47400197C>G	ENST00000310638.4	-	7	856	c.825G>C	c.(823-825)caG>caC	p.Q275H	CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000462347.1_Missense_Mutation_p.E224Q|CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q275H|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q276H|CYP4A11_ENST00000457840.2_Missense_Mutation_p.E120Q	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	275					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CCCCCTCCTTCTGTAGTTGAG	0.532																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(823-825)caG>caC		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						92.0	88.0	89.0					1																	47400197		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47400197C>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.825G>C	1.37:g.47400197C>G	ENSP00000311095:p.Gln275His					CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q275H|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.E120Q|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q276H	p.Q275H	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			7	856	-			275					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.825G>C	CCDS543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	12.42|12.42	1.931184|1.931184	0.34096|0.34096	.|.	.|.	ENSG00000187048|ENSG00000187048	ENST00000457840|ENST00000310638;ENST00000371904;ENST00000371905	T|T;T;T	0.22743|0.69806	1.94|-0.43;-0.43;-0.43	5.33|5.33	3.41|3.41	0.39046|0.39046	.|.	.|0.290613	.|0.38605	.|N	.|0.001638	T|T	0.53594|0.53594	0.1806|0.1806	L|L	0.33293|0.33293	1|1	0.21386|0.21386	N|N	0.999707|0.999707	.|B	.|0.17465	.|0.022	.|B	.|0.27262	.|0.078	T|T	0.50276|0.50276	-0.8847|-0.8847	7|10	0.27082|0.59425	T|D	0.32|0.04	.|.	6.8516|6.8516	0.24018|0.24018	0.1245:0.6682:0.1352:0.0722|0.1245:0.6682:0.1352:0.0722	.|.	.|275	.|Q02928	.|CP4AB_HUMAN	Q|H	120|275;276;275	ENSP00000406272:E120Q|ENSP00000311095:Q275H;ENSP00000360971:Q276H;ENSP00000360972:Q275H	ENSP00000406272:E120Q|ENSP00000311095:Q275H	E|Q	-|-	1|3	0|2	CYP4A11|CYP4A11	47172784|47172784	0.000000|0.000000	0.05858|0.05858	0.051000|0.051000	0.19133|0.19133	0.009000|0.009000	0.06853|0.06853	-0.943000|-0.943000	0.03917|0.03917	0.700000|0.700000	0.31782|0.31782	-0.142000|-0.142000	0.14014|0.14014	GAA|CAG		0.532	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		11	77	0	0	0	1	0	11	77				
TRMT2B	79979	broad.mit.edu	37	X	100275562	100275562	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:100275562G>A	ENST00000372936.3	-	11	1854	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	TRMT2B_ENST00000545398.1_Missense_Mutation_p.S361F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S316F|TRMT2B_ENST00000338687.7_Missense_Mutation_p.S316F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S361F|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S361F	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	361						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTGAGCCAGAGAGAGGCCAAT	0.438																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(946-948)tCt>tTt		tRNA methyltransferase 2 homolog B (S. cerevisiae)							153.0	126.0	135.0					X																	100275562		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100275562G>A	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1082C>T	X.37:g.100275562G>A	ENSP00000362027:p.Ser361Phe					TRMT2B_ENST00000372935.1_Missense_Mutation_p.S361F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S316F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S361F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S361F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S361F	p.S316F			Q96GJ1	TRM2_HUMAN			10	1752	-			361					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.947C>T	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188186	0.57909	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	4.57	4.57	0.56435	.	0.060010	0.64402	D	0.000002	T	0.28928	0.0718	L	0.37850	1.14	0.58432	D	0.999992	D;B;P	0.76494	0.999;0.392;0.599	D;B;B	0.67103	0.949;0.262;0.374	T	0.03443	-1.1036	10	0.02654	T	1	-0.9665	14.1669	0.65483	0.0:0.0:1.0:0.0	.	316;361;361	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	F	316;361;316;361;361;361	ENSP00000340970:S316F;ENSP00000438134:S361F;ENSP00000362030:S316F;ENSP00000362026:S361F;ENSP00000362027:S361F;ENSP00000362022:S361F	ENSP00000340970:S316F	S	-	2	0	TRMT2B	100162218	1.000000	0.71417	0.995000	0.50966	0.547000	0.35210	7.154000	0.77437	2.005000	0.58758	0.600000	0.82982	TCT		0.438	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		22	42	0	0	0	1	0	22	42				
FLG2	388698	broad.mit.edu	37	1	152325211	152325211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:152325211G>T	ENST00000388718.5	-	3	5123	c.5051C>A	c.(5050-5052)tCa>tAa	p.S1684*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1684					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATGGATTCTGACTGTCCATG	0.488																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5050-5052)tCa>tAa		filaggrin family member 2							420.0	366.0	384.0					1																	152325211		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152325211G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5051C>A	1.37:g.152325211G>T	ENSP00000373370:p.Ser1684*					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S1684*	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5123	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1684					Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.5051C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	42	9.224739	0.99106	.	.	ENSG00000143520	ENST00000388718	.	.	.	3.96	0.815	0.18763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.8885	2.5671	0.04785	0.1077:0.1857:0.5155:0.1912	.	.	.	.	X	1684	.	ENSP00000373370:S1684X	S	-	2	0	FLG2	150591835	.	.	0.010000	0.14722	0.105000	0.19272	.	.	0.068000	0.16574	0.456000	0.33151	TCA		0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		56	350	1	0	1.63038e-21	1	1.89992e-21	56	350				
CRAT	1384	broad.mit.edu	37	9	131860841	131860841	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:131860841C>T	ENST00000318080.2	-	9	1468	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	392					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTCTCGATGTCGCTCTTGATC	0.602																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(1174-1176)Gac>Aac		carnitine O-acetyltransferase	L-Carnitine(DB00583)						218.0	188.0	198.0					9																	131860841		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131860841C>T	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1174G>A	9.37:g.131860841C>T	ENSP00000315013:p.Asp392Asn					RP11-247A12.1_ENST00000434250.1_RNA	p.D392N	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	9	1468	-			392					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.1174G>A	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785183	0.70222	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.89123	-2.47	5.13	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.89252	0.6662	M	0.62088	1.915	0.80722	D	1	D	0.54772	0.968	P	0.50825	0.651	D	0.86973	0.2099	10	0.25751	T	0.34	-48.5198	12.5672	0.56316	0.0:0.9206:0.0:0.0794	.	392	P43155	CACP_HUMAN	N	311;392	ENSP00000315013:D392N	ENSP00000315013:D392N	D	-	1	0	CRAT	130900662	1.000000	0.71417	0.658000	0.29665	0.544000	0.35116	5.932000	0.70121	1.395000	0.46643	0.561000	0.74099	GAC		0.602	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			30	135	0	0	0	1	0	30	135				
UFL1	23376	broad.mit.edu	37	6	97000466	97000466	+	Silent	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:97000466C>G	ENST00000369278.4	+	18	2160	c.2094C>G	c.(2092-2094)acC>acG	p.T698T		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	698					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AGTTTTCAACCCACAGCATGC	0.423																																						ENST00000369278.4																			0											c.(2092-2094)acC>acG		UFM1-specific ligase 1							164.0	126.0	139.0					6																	97000466		2203	4300	6503	SO:0001819	synonymous_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:97000466C>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.2094C>G	6.37:g.97000466C>G							p.T698T	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			18	2160	+			698					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	c.2094C>G	CCDS5034.1																																																																																				0.423	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		6	42	0	0	0	1	0	6	42				
LIFR	3977	broad.mit.edu	37	5	38481728	38481728	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:38481728G>T	ENST00000263409.4	-	20	3425	c.3263C>A	c.(3262-3264)aCa>aAa	p.T1088K	LIFR_ENST00000453190.2_Missense_Mutation_p.T1088K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1088					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAAAAAGTTTGTAAAGGACCA	0.413			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(3262-3264)aCa>aAa		leukemia inhibitory factor receptor alpha							121.0	127.0	125.0					5																	38481728		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38481728G>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3263C>A	5.37:g.38481728G>T	ENSP00000263409:p.Thr1088Lys					LIFR_ENST00000453190.2_Missense_Mutation_p.T1088K	p.T1088K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	3425	-	all_lung(31;0.00021)		1088					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.3263C>A	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384901	0.61956	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.59364	0.27;0.27	5.94	5.05	0.67936	.	0.391608	0.26734	N	0.022770	T	0.58075	0.2097	L	0.54323	1.7	0.39180	D	0.962759	P	0.42785	0.79	B	0.41571	0.36	T	0.66148	-0.5996	10	0.87932	D	0	-17.1746	17.0369	0.86478	0.0:0.1272:0.8728:0.0	.	1088	P42702	LIFR_HUMAN	K	1088	ENSP00000263409:T1088K;ENSP00000398368:T1088K	ENSP00000263409:T1088K	T	-	2	0	LIFR	38517485	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.775000	0.62346	1.467000	0.48044	0.557000	0.71058	ACA		0.413	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		27	128	1	0	4.87955e-14	1	5.64076e-14	27	128				
SGSM1	129049	broad.mit.edu	37	22	25264420	25264420	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:25264420C>A	ENST00000400359.4	+	11	1079	c.1072C>A	c.(1072-1074)Cac>Aac	p.H358N	SGSM1_ENST00000400358.4_Missense_Mutation_p.H358N	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	358						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAGGGCGGGCACCTCCTGCA	0.647																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(1072-1074)Cac>Aac		small G protein signaling modulator 1							42.0	47.0	45.0					22																	25264420		1984	4146	6130	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25264420C>A	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.1072C>A	22.37:g.25264420C>A	ENSP00000383212:p.His358Asn					SGSM1_ENST00000400359.4_Missense_Mutation_p.H358N	p.H358N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			11	1129	+			358					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.1072C>A	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626764	0.87560	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.28666	1.6;1.6	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.71674	0.974;0.998;0.997;0.998	P;D;D;D	0.78314	0.717;0.991;0.962;0.987	T	0.56950	-0.7894	10	0.56958	D	0.05	-17.7261	16.5497	0.84470	0.0:1.0:0.0:0.0	.	358;474;491;358	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	N	474;358;358	ENSP00000383211:H358N;ENSP00000383212:H358N	ENSP00000383211:H358N	H	+	1	0	SGSM1	23594420	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.217000	0.77982	2.333000	0.79357	0.313000	0.20887	CAC		0.647	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		13	62	1	0	9.05144e-12	1	1.02583e-11	13	62				
STOML3	161003	broad.mit.edu	37	13	39546701	39546701	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:39546701A>C	ENST00000379631.4	-	4	604	c.260T>G	c.(259-261)gTg>gGg	p.V87G	STOML3_ENST00000423210.1_Missense_Mutation_p.V78G	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	87					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTTGACAAACACATCTATGCA	0.368																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(259-261)gTg>gGg		stomatin (EPB72)-like 3							163.0	146.0	152.0					13																	39546701		2203	4300	6503	SO:0001583	missense	161003					integral to membrane|plasma membrane		g.chr13:39546701A>C	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.260T>G	13.37:g.39546701A>C	ENSP00000368952:p.Val87Gly					STOML3_ENST00000423210.1_Missense_Mutation_p.V78G	p.V87G	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	4	604	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	87					B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.260T>G	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.368585	0.42003	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.92805	-3.11;-3.11	5.45	2.95	0.34219	.	0.381500	0.28927	N	0.013692	D	0.84243	0.5429	L	0.28556	0.865	0.50171	D	0.999857	B;B	0.16166	0.016;0.016	B;B	0.23275	0.027;0.045	T	0.74822	-0.3534	10	0.48119	T	0.1	-24.1874	3.5753	0.07932	0.6092:0.0:0.2347:0.1561	.	78;87	B4E285;Q8TAV4	.;STML3_HUMAN	G	87;78	ENSP00000368952:V87G;ENSP00000401989:V78G	ENSP00000368952:V87G	V	-	2	0	STOML3	38444701	0.003000	0.15002	0.986000	0.45419	0.976000	0.68499	1.206000	0.32321	0.425000	0.26087	0.533000	0.62120	GTG		0.368	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			18	111	0	0	0	1	0	18	111				
DCAF12L1	139170	broad.mit.edu	37	X	125685553	125685553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:125685553G>A	ENST00000371126.1	-	1	1281	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	347										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCACCCTCTCGAGAACACAGG	0.612																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1039-1041)Cga>Tga		DDB1 and CUL4 associated factor 12-like 1							38.0	38.0	38.0					X																	125685553		2203	4300	6503	SO:0001587	stop_gained	139170							g.chrX:125685553G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1039C>T	X.37:g.125685553G>A	ENSP00000360167:p.Arg347*						p.R347*	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1281	-			347					Q8IYK3	Nonsense_Mutation	SNP	ENST00000371126.1	37	c.1039C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469955	0.63625	.	.	ENSG00000198889	ENST00000371126	.	.	.	3.64	-7.27	0.01461	.	0.631436	0.12039	N	0.505214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1729	0.10337	0.11:0.0956:0.206:0.5883	.	.	.	.	X	347	.	ENSP00000360167:R347X	R	-	1	2	DCAF12L1	125513234	0.993000	0.37304	0.000000	0.03702	0.139000	0.21198	0.499000	0.22546	-2.252000	0.00699	0.429000	0.28392	CGA		0.612	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		14	37	0	0	0	1	0	14	37				
USP19	10869	broad.mit.edu	37	3	49152992	49152992	+	Missense_Mutation	SNP	C	C	G	rs371453271		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:49152992C>G	ENST00000398888.2	-	11	1782	c.1464G>C	c.(1462-1464)gaG>gaC	p.E488D	USP19_ENST00000398896.1_Missense_Mutation_p.E296D|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_Missense_Mutation_p.E591D|USP19_ENST00000398892.3_Missense_Mutation_p.E528D|USP19_ENST00000434032.2_Missense_Mutation_p.E589D|USP19_ENST00000453664.1_Missense_Mutation_p.E579D|USP19_ENST00000398898.2_Missense_Mutation_p.E528D	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	488					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAccttcttctcttcctctt	0.552																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1735-1737)gaG>gaC		ubiquitin specific peptidase 19							46.0	51.0	49.0					3																	49152992		2188	4290	6478	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152992C>G	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1464G>C	3.37:g.49152992C>G	ENSP00000381863:p.Glu488Asp					USP19_ENST00000434032.2_Missense_Mutation_p.E589D|USP19_ENST00000398888.2_Missense_Mutation_p.E488D|USP19_ENST00000417901.1_Missense_Mutation_p.E591D|USP19_ENST00000398892.3_Missense_Mutation_p.E528D|USP19_ENST00000398896.1_Missense_Mutation_p.E296D|USP19_ENST00000398898.2_Missense_Mutation_p.E528D	p.E579D	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	12	2055	-			488					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1737G>C	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899258	0.33535	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.21734	2.03;2.0;2.1;2.1;1.99;2.11;2.09	5.92	1.12	0.20585	Domain of unknown function DUF1872 (1);	0.181349	0.52532	D	0.000079	T	0.31104	0.0786	L	0.43152	1.355	0.44547	D	0.9975	B;D;B;B;D;B;B	0.89917	0.053;1.0;0.276;0.149;0.997;0.292;0.033	B;D;B;B;D;B;B	0.85130	0.058;0.997;0.137;0.093;0.992;0.136;0.03	T	0.01484	-1.1343	10	0.40728	T	0.16	-21.211	7.089	0.25273	0.0:0.5815:0.1069:0.3116	.	654;589;579;488;528;574;296	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	D	296;528;591;579;528;488;589	ENSP00000381870:E296D;ENSP00000381872:E528D;ENSP00000395260:E591D;ENSP00000400090:E579D;ENSP00000381867:E528D;ENSP00000381863:E488D;ENSP00000401197:E589D	ENSP00000381863:E488D	E	-	3	2	USP19	49127996	1.000000	0.71417	0.904000	0.35570	0.951000	0.60555	1.778000	0.38614	-0.079000	0.12707	-0.136000	0.14681	GAG		0.552	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		12	36	0	0	0	1	0	12	36				
P2RY2	5029	broad.mit.edu	37	11	72945652	72945652	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:72945652G>T	ENST00000311131.2	+	3	915	c.448G>T	c.(448-450)Gct>Tct	p.A150S	P2RY2_ENST00000393597.2_Missense_Mutation_p.A150S|P2RY2_ENST00000393596.2_Missense_Mutation_p.A150S	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	150					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGCCCGCTACGCTCGCCGGGT	0.701																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(448-450)Gct>Tct		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						35.0	36.0	36.0					11																	72945652		2199	4292	6491	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945652G>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.448G>T	11.37:g.72945652G>T	ENSP00000310305:p.Ala150Ser					P2RY2_ENST00000393597.2_Missense_Mutation_p.A150S|P2RY2_ENST00000393596.2_Missense_Mutation_p.A150S	p.A150S	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	915	+			150					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.448G>T	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321693	0.81580	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.41758	0.99;0.99;0.99	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.76002	2.32	0.58432	D	0.999996	D	0.71674	0.998	D	0.71414	0.973	T	0.67189	-0.5733	10	0.52906	T	0.07	.	17.791	0.88552	0.0:0.0:1.0:0.0	.	150	P41231	P2RY2_HUMAN	S	150	ENSP00000377222:A150S;ENSP00000310305:A150S;ENSP00000377221:A150S	ENSP00000310305:A150S	A	+	1	0	P2RY2	72623300	1.000000	0.71417	0.986000	0.45419	0.851000	0.48451	4.499000	0.60380	2.452000	0.82932	0.561000	0.74099	GCT		0.701	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		17	59	1	0	3.41278e-10	1	3.83772e-10	17	59				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	79	0	0	0	1	0	4	79				
ADAMTS20	80070	broad.mit.edu	37	12	43769222	43769222	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:43769222G>A	ENST00000389420.3	-	36	5405	c.5406C>T	c.(5404-5406)ttC>ttT	p.F1802F		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1802	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTATTTTGCTGAAAACAGTGT	0.343																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5404-5406)ttC>ttT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							127.0	123.0	124.0					12																	43769222		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43769222G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5406C>T	12.37:g.43769222G>A							p.F1802F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	36	5405	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1802			GON.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.5406C>T	CCDS31778.2																																																																																				0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		9	53	0	0	0	1	0	9	53				
MED1	5469	broad.mit.edu	37	17	37563838	37563838	+	Missense_Mutation	SNP	T	T	C	rs149053045	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:37563838T>C	ENST00000300651.6	-	17	4859	c.4636A>G	c.(4636-4638)Atg>Gtg	p.M1546V	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTACTTGTCATAGACAAGGAC	0.473										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4636-4638)Atg>Gtg		mediator complex subunit 1		T	VAL/MET	0,4406		0,0,2203	204.0	188.0	194.0		4636	-1.0	1.0	17	dbSNP_134	194	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MED1	NM_004774.3	21	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	1546/1582	37563838	2,13004	2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37563838T>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4636A>G	17.37:g.37563838T>C	ENSP00000300651:p.Met1546Val	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.M1546V	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4859	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1546					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4636A>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	8.896	0.955198	0.18507	0.0	2.33E-4	ENSG00000125686	ENST00000300651	T	0.33438	1.41	5.63	-1.03	0.10102	.	.	.	.	.	T	0.15176	0.0366	N	0.24115	0.695	0.36436	D	0.865227	B	0.06786	0.001	B	0.04013	0.001	T	0.19549	-1.0302	9	0.20519	T	0.43	-0.1589	4.6748	0.12706	0.3366:0.1284:0.0:0.535	.	1546	Q15648	MED1_HUMAN	V	1546	ENSP00000300651:M1546V	ENSP00000300651:M1546V	M	-	1	0	MED1	34817364	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	1.275000	0.33144	-0.248000	0.09583	0.533000	0.62120	ATG		0.473	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		17	118	0	0	0	1	0	17	118				
LRRC15	131578	broad.mit.edu	37	3	194080244	194080244	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:194080244C>T	ENST00000347624.3	-	2	1614	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	LRRC15_ENST00000428839.1_Missense_Mutation_p.S516N|LRRC15_ENST00000439944.2_Missense_Mutation_p.S516N	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	510					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTCCACAGGGCTGGTTAGCTC	0.577																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1528-1530)aGc>aAc		leucine rich repeat containing 15							148.0	146.0	146.0					3																	194080244		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080244C>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1529G>A	3.37:g.194080244C>T	ENSP00000306276:p.Ser510Asn					LRRC15_ENST00000428839.1_Missense_Mutation_p.S516N|LRRC15_ENST00000439944.2_Missense_Mutation_p.S516N	p.S510N	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1614	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		510					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1529G>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	4.970	0.180227	0.09443	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56611	0.45;0.48;0.48	5.61	1.36	0.22044	.	0.844412	0.10743	N	0.639198	T	0.33847	0.0877	N	0.19112	0.55	0.25591	N	0.986692	B;B	0.30973	0.201;0.302	B;B	0.24541	0.024;0.054	T	0.07868	-1.0750	10	0.13108	T	0.6	.	13.6443	0.62272	0.0:0.5121:0.4183:0.0696	.	510;516	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	N	510;516;516	ENSP00000306276:S510N;ENSP00000389128:S516N;ENSP00000413707:S516N	ENSP00000306276:S510N	S	-	2	0	LRRC15	195561539	0.001000	0.12720	0.340000	0.25575	0.010000	0.07245	-0.294000	0.08309	0.397000	0.25310	0.655000	0.94253	AGC		0.577	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			9	52	0	0	0	1	0	9	52				
CDH4	1002	broad.mit.edu	37	20	60508098	60508098	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:60508098G>A	ENST00000360469.5	+	14	2383	c.2295G>A	c.(2293-2295)acG>acA	p.T765T	CDH4_ENST00000543233.1_Silent_p.T691T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	765					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCGCCACACGAAGCAGCTGC	0.642																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2293-2295)acG>acA		cadherin 4, type 1, R-cadherin (retinal)							117.0	78.0	91.0					20																	60508098		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60508098G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2295G>A	20.37:g.60508098G>A						CDH4_ENST00000543233.1_Silent_p.T691T	p.T765T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		14	2383	+			765					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2295G>A	CCDS13488.1																																																																																				0.642	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		6	52	0	0	0	1	0	6	52				
TMED4	222068	broad.mit.edu	37	7	44619144	44619144	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:44619144G>A	ENST00000457408.2	-	5	670	c.618C>T	c.(616-618)ctC>ctT	p.L206L	TMED4_ENST00000444131.2_5'Flank|TMED4_ENST00000289577.5_Silent_p.L157L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	206					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGTGAGGATGAGGATGACAG	0.532																																						ENST00000457408.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(616-618)ctC>ctT		transmembrane emp24 protein transport domain containing 4							146.0	111.0	123.0					7																	44619144		2203	4300	6503	SO:0001819	synonymous_variant	222068				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity	g.chr7:44619144G>A	BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.618C>T	7.37:g.44619144G>A						TMED4_ENST00000289577.5_Silent_p.L157L	p.L206L	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN			5	670	-			206					A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Silent	SNP	ENST00000457408.2	37	c.618C>T	CCDS5493.1																																																																																				0.532	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251290.1	NM_182547		8	68	0	0	0	1	0	8	68				
MKX	283078	broad.mit.edu	37	10	27964480	27964480	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:27964480G>A	ENST00000375790.5	-	6	1274	c.842C>T	c.(841-843)aCt>aTt	p.T281I	MKX_ENST00000419761.1_Missense_Mutation_p.T281I			Q8IYA7	MKX_HUMAN	mohawk homeobox	281					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	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 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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GTTTTCCAGAGTGTCTGTAAA	0.378																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(841-843)aCt>aTt		mohawk homeobox							75.0	64.0	67.0					10																	27964480		2203	4300	6503	SO:0001583	missense	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964480G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.842C>T	10.37:g.27964480G>A	ENSP00000364946:p.Thr281Ile					MKX_ENST00000419761.1_Missense_Mutation_p.T281I	p.T281I			Q8IYA7	MKX_HUMAN			6	1274	-			281					B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	c.842C>T	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862687	0.51482	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.16324	2.35;2.35	6.05	5.14	0.70334	.	0.536772	0.20038	N	0.100573	T	0.15869	0.0382	L	0.48642	1.525	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.02512	-1.1148	10	0.45353	T	0.12	-1.8913	9.5663	0.39400	0.0719:0.0:0.7859:0.1421	.	281	Q8IYA7	MKX_HUMAN	I	281	ENSP00000364946:T281I;ENSP00000400896:T281I	ENSP00000364946:T281I	T	-	2	0	MKX	28004486	1.000000	0.71417	0.997000	0.53966	0.858000	0.48976	3.963000	0.56773	2.878000	0.98634	0.650000	0.86243	ACT		0.378	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		3	35	0	0	0	1	0	3	35				
SLC13A4	26266	broad.mit.edu	37	7	135378967	135378967	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:135378967G>A	ENST00000354042.4	-	10	1725	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	346					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.L346L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTCTTGCTCAGAGAGCAGGTC	0.388																																						ENST00000354042.4																			1	Substitution - coding silent(1)	p.L346L(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1036-1038)Ctg>Ttg		solute carrier family 13 (sodium/sulfate symporter), member 4							168.0	159.0	162.0					7																	135378967		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135378967G>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1036C>T	7.37:g.135378967G>A							p.L346L	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN			10	1725	-			346					A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.1036C>T	CCDS5840.1																																																																																				0.388	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		8	50	0	0	0	1	0	8	50				
CHST14	113189	broad.mit.edu	37	15	40764195	40764195	+	Silent	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:40764195C>G	ENST00000306243.5	+	1	1036	c.783C>G	c.(781-783)ccC>ccG	p.P261P	CHST14_ENST00000559991.1_Silent_p.P236P	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	261					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		TCACATTCCCCGAGTTCCTGA	0.602																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(781-783)ccC>ccG		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							112.0	121.0	118.0					15																	40764195		2203	4300	6503	SO:0001819	synonymous_variant	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764195C>G	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.783C>G	15.37:g.40764195C>G						CHST14_ENST00000559991.1_Silent_p.P236P	p.P261P	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1036	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	261					Q6PJ31|Q6UXA0|Q96P94	Silent	SNP	ENST00000306243.5	37	c.783C>G	CCDS10059.1																																																																																				0.602	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		29	134	0	0	0	1	0	29	134				
OPRM1	4988	broad.mit.edu	37	6	154412438	154412438	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:154412438G>A	ENST00000330432.7	+	3	1232	c.995G>A	c.(994-996)tGc>tAc	p.C332Y	OPRM1_ENST00000452687.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000518759.1_Missense_Mutation_p.C251Y|OPRM1_ENST00000419506.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000337049.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000434900.2_Missense_Mutation_p.C425Y|OPRM1_ENST00000520708.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000522555.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000414028.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000229768.5_Missense_Mutation_p.C332Y|OPRM1_ENST00000522236.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000428397.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000435918.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000360422.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000524163.1_Missense_Mutation_p.C332Y	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	332					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACAAACAGCTGCCTCAACCCA	0.428																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(994-996)tGc>tAc		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						126.0	126.0	126.0					6																	154412438		2046	4221	6267	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412438G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.995G>A	6.37:g.154412438G>A	ENSP00000328264:p.Cys332Tyr					OPRM1_ENST00000522236.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000337049.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000428397.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000434900.2_Missense_Mutation_p.C425Y|OPRM1_ENST00000229768.5_Missense_Mutation_p.C332Y|OPRM1_ENST00000518759.1_Missense_Mutation_p.C251Y|OPRM1_ENST00000330432.7_Missense_Mutation_p.C332Y|OPRM1_ENST00000522555.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000452687.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000360422.4_Missense_Mutation_p.C332Y|OPRM1_ENST00000524163.1_Missense_Mutation_p.C332Y|OPRM1_ENST00000520708.1_Missense_Mutation_p.C232Y|OPRM1_ENST00000435918.2_Missense_Mutation_p.C332Y|OPRM1_ENST00000419506.2_Missense_Mutation_p.C332Y	p.C332Y	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1045	+		Ovarian(120;0.196)	332					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.995G>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222839	0.79464	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.042128	0.85682	D	0.000000	T	0.74589	0.3736	H	0.96576	3.845	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;D	0.64830	0.991;0.96;0.96;0.994;0.993;0.967;0.941;0.985;0.988;0.991;0.985;0.96	P;P;P;D;D;P;P;D;D;P;D;P	0.69479	0.861;0.891;0.891;0.916;0.964;0.903;0.863;0.935;0.934;0.891;0.935;0.844	T	0.82876	-0.0240	10	0.87932	D	0	.	20.1837	0.98210	0.0:0.0:1.0:0.0	.	332;332;332;332;425;251;232;332;332;332;332;332	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	Y	425;232;251;332;332;332;332;332;332;332;332;332;332;232;232	ENSP00000394624:C425Y;ENSP00000430876:C232Y;ENSP00000430260:C251Y;ENSP00000328264:C332Y;ENSP00000353598:C332Y;ENSP00000411903:C332Y;ENSP00000410497:C332Y;ENSP00000229768:C332Y;ENSP00000403549:C332Y;ENSP00000430097:C332Y;ENSP00000399359:C332Y;ENSP00000413752:C332Y;ENSP00000338381:C332Y;ENSP00000429719:C232Y;ENSP00000429373:C232Y	ENSP00000229768:C332Y	C	+	2	0	OPRM1	154454131	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.006000	0.88564	2.774000	0.95407	0.650000	0.86243	TGC		0.428	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		20	97	0	0	0	1	0	20	97				
MUC6	4588	broad.mit.edu	37	11	1016697	1016697	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:1016697G>A	ENST00000421673.2	-	31	6154	c.6104C>T	c.(6103-6105)tCt>tTt	p.S2035F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2035	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGAGGCAGAAGTGGCCAT	0.567																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(6103-6105)tCt>tTt		mucin 6, oligomeric mucus/gel-forming							530.0	485.0	501.0					11																	1016697		2202	4293	6495	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016697G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6104C>T	11.37:g.1016697G>A	ENSP00000406861:p.Ser2035Phe						p.S2035F	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6154	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2035			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6104C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	5.582	0.292271	0.10567	.	.	ENSG00000184956	ENST00000421673	T	0.28666	1.6	1.19	0.19	0.15125	.	.	.	.	.	T	0.22704	0.0548	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	9	0.59425	D	0.04	.	6.3572	0.21408	0.2067:0.0:0.7933:0.0	.	2035	Q6W4X9	MUC6_HUMAN	F	2035	ENSP00000406861:S2035F	ENSP00000406861:S2035F	S	-	2	0	MUC6	1006697	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.188000	0.09642	-0.336000	0.08438	-1.786000	0.00637	TCT		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		39	353	0	0	0	1	0	39	353				
RHOV	171177	broad.mit.edu	37	15	41165441	41165441	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr15:41165441C>T	ENST00000220507.4	-	3	675	c.526G>A	c.(526-528)Gag>Aag	p.E176K	AC025166.1_ENST00000582049.1_RNA	NM_133639.3	NP_598378.3			ras homolog family member V											central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CGGATCTTCTCGGCCAGACCC	0.592																																					Pancreas(13;103 483 3593 12123 44457)	ENST00000220507.4																			0				central_nervous_system(1)|large_intestine(1)	2						c.(526-528)Gag>Aag		ras homolog family member V							71.0	75.0	74.0					15																	41165441		2203	4300	6503	SO:0001583	missense	171177				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding	g.chr15:41165441C>T	AY059636	CCDS10068.1	15q13.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000104140	ENSG00000104140			18313	protein-coding gene	gene with protein product			"""ras homolog gene family, member V"""	ARHV		11839775	Standard	NM_133639		Approved	Chp, WRCH2	uc001znd.3	Q96L33	OTTHUMG00000130134	ENST00000220507.4:c.526G>A	15.37:g.41165441C>T	ENSP00000220507:p.Glu176Lys						p.E176K	NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	675	-		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	176						Missense_Mutation	SNP	ENST00000220507.4	37	c.526G>A	CCDS10068.1	.	.	.	.	.	.	.	.	.	.	C	9.715	1.158238	0.21454	.	.	ENSG00000104140	ENST00000220507	T	0.75704	-0.96	5.63	5.63	0.86233	Small GTP-binding protein domain (1);	0.144787	0.64402	D	0.000009	T	0.50701	0.1631	N	0.05554	-0.025	0.58432	D	0.99999	B	0.26512	0.151	B	0.16722	0.016	T	0.53844	-0.8381	10	0.02654	T	1	-0.3849	15.2055	0.73175	0.0:0.8597:0.1403:0.0	.	176	Q96L33	RHOV_HUMAN	K	176	ENSP00000220507:E176K	ENSP00000220507:E176K	E	-	1	0	RHOV	38952733	1.000000	0.71417	0.963000	0.40424	0.985000	0.73830	4.804000	0.62554	2.671000	0.90904	0.455000	0.32223	GAG		0.592	RHOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252442.1			13	125	0	0	0	1	0	13	125				
KIR3DL2	3812	broad.mit.edu	37	19	55378172	55378172	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:55378172G>C	ENST00000326321.3	+	9	1387	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	RNU6-222P_ENST00000362438.1_RNA|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E435Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E452Q	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	452					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTCAGGTCTTGAGGGGGTTTT	0.522																																						ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1354-1356)Gag>Cag		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							169.0	170.0	170.0					19																	55378172		2203	4300	6503	SO:0001583	missense	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378172G>C	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1354G>C	19.37:g.55378172G>C	ENSP00000325525:p.Glu452Gln					KIR3DL2_ENST00000270442.5_Missense_Mutation_p.E435Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E452Q	p.E452Q	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1387	+			452					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1354G>C	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519212	0.27211	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00498	7.11;7.09;6.97	1.01	-0.234	0.13074	.	.	.	.	.	T	0.00666	0.0022	N	0.22421	0.69	0.09310	N	1	P;P;D	0.59767	0.9;0.659;0.986	B;B;D	0.71656	0.289;0.403;0.974	T	0.56878	-0.7906	9	0.87932	D	0	.	4.0255	0.09685	0.0:0.0:0.5898:0.4102	.	435;452;452	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	Q	452;452;435	ENSP00000384528:E452Q;ENSP00000325525:E452Q;ENSP00000270442:E435Q	ENSP00000384528:E452Q	E	+	1	0	KIR3DL1;KIR3DL2	60069984	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.315000	0.19451	-0.021000	0.14009	0.499000	0.49734	GAG		0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			31	194	0	0	0	1	0	31	194				
TPD52L2	7165	broad.mit.edu	37	20	62521284	62521284	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:62521284C>T	ENST00000346249.4	+	7	683	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	TPD52L2_ENST00000369927.4_Missense_Mutation_p.P160S|TPD52L2_ENST00000348257.5_Missense_Mutation_p.P183S|TPD52L2_ENST00000351424.4_Missense_Mutation_p.P206S|TPD52L2_ENST00000352482.4_Missense_Mutation_p.P217S|TPD52L2_ENST00000358548.4_Missense_Mutation_p.P197S|TPD52L2_ENST00000217121.5_Missense_Mutation_p.P226S	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	203					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CCTGTCGGATCCCGCACCTTT	0.592																																						ENST00000217121.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(676-678)Ccc>Tcc		tumor protein D52-like 2							73.0	64.0	67.0					20																	62521284		2203	4300	6503	SO:0001583	missense	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62521284C>T	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.607C>T	20.37:g.62521284C>T	ENSP00000343547:p.Pro203Ser					TPD52L2_ENST00000369927.4_Missense_Mutation_p.P160S|TPD52L2_ENST00000352482.4_Missense_Mutation_p.P217S|TPD52L2_ENST00000348257.5_Missense_Mutation_p.P183S|TPD52L2_ENST00000358548.4_Missense_Mutation_p.P197S|TPD52L2_ENST00000346249.4_Missense_Mutation_p.P203S|TPD52L2_ENST00000351424.4_Missense_Mutation_p.P206S	p.P226S	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN			9	748	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		203					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	c.676C>T	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	C	9.745	1.166020	0.21538	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.28895	1.62;1.61;1.62;1.62;1.59;1.59;1.63	5.11	3.01	0.34805	.	0.331842	0.25355	N	0.031263	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.15719	0.0;0.0;0.0;0.0;0.0;0.008;0.014;0.0;0.0	B;B;B;B;B;B;B;B;B	0.17433	0.002;0.001;0.001;0.001;0.001;0.018;0.018;0.001;0.001	T	0.19844	-1.0293	10	0.18276	T	0.48	-4.6613	10.3809	0.44110	0.4612:0.5388:0.0:0.0	.	160;154;203;183;203;197;206;217;226	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	S	160;203;183;217;206;226;197	ENSP00000358943:P160S;ENSP00000343547:P203S;ENSP00000343554:P183S;ENSP00000344647:P217S;ENSP00000340006:P206S;ENSP00000217121:P226S;ENSP00000351350:P197S	ENSP00000217121:P226S	P	+	1	0	TPD52L2	61991728	0.314000	0.24563	0.004000	0.12327	0.944000	0.59088	3.435000	0.52849	1.132000	0.42129	0.655000	0.94253	CCC		0.592	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			6	42	0	0	0	1	0	6	42				
PES1	23481	broad.mit.edu	37	22	30975207	30975207	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:30975207C>T	ENST00000405677.1	-	15	1964	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	PES1_ENST00000402281.1_Missense_Mutation_p.E341K|PES1_ENST00000354694.7_Missense_Mutation_p.E480K|PES1_ENST00000402284.3_Missense_Mutation_p.E463K|PES1_ENST00000335214.6_Missense_Mutation_p.E475K	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						tcttcctcctcctcctcattt	0.537																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(1021-1023)Gag>Aag		pescadillo ribosomal biogenesis factor 1							51.0	50.0	50.0					22																	30975207		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30975207C>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1021G>A	22.37:g.30975207C>T	ENSP00000385654:p.Glu341Lys					PES1_ENST00000354694.6_Missense_Mutation_p.E480K|PES1_ENST00000402284.3_Missense_Mutation_p.E463K|PES1_ENST00000405677.1_Missense_Mutation_p.E341K|PES1_ENST00000335214.6_Missense_Mutation_p.E475K	p.E341K			O00541	PESC_HUMAN			15	2012	-			480			BRCT.|Sufficient for interaction with MAP1B (By similarity).			Missense_Mutation	SNP	ENST00000405677.1	37	c.1021G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.605|8.605	0.887820|0.887820	0.17540|0.17540	.|.	.|.	ENSG00000100029|ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214|ENST00000441668	T;T;T;T;T|.	0.32753|.	1.44;1.44;1.44;1.44;1.44|.	4.26|4.26	4.26|4.26	0.50523|0.50523	.|.	0.511218|.	0.20308|.	N|.	0.094894|.	T|T	0.51568|0.51568	0.1682|0.1682	L|L	0.31065|0.31065	0.9|0.9	0.80722|0.80722	D|D	1|1	B;B;P;B|.	0.36535|.	0.421;0.421;0.557;0.421|.	B;B;B;B|.	0.35971|.	0.107;0.107;0.215;0.107|.	T|T	0.46289|0.46289	-0.9202|-0.9202	10|5	0.36615|.	T|.	0.2|.	-17.9493|-17.9493	11.7084|11.7084	0.51610|0.51610	0.0:0.9091:0.0:0.0909|0.0:0.9091:0.0:0.0909	.|.	480;463;475;480|.	B2RDF2;B5MCF9;O00541-2;O00541|.	.;.;.;PESC_HUMAN|.	K|E	480;341;341;463;475|86	ENSP00000346725:E480K;ENSP00000384366:E341K;ENSP00000385654:E341K;ENSP00000384252:E463K;ENSP00000334612:E475K|.	ENSP00000334612:E475K|.	E|G	-|-	1|2	0|0	PES1|PES1	29305207|29305207	1.000000|1.000000	0.71417|0.71417	0.129000|0.129000	0.21949|0.21949	0.029000|0.029000	0.11900|0.11900	6.116000|6.116000	0.71571|0.71571	2.099000|2.099000	0.63709|0.63709	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.537	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		8	31	0	0	0	1	0	8	31				
ADAMTS5	11096	broad.mit.edu	37	21	28338337	28338337	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:28338337C>T	ENST00000284987.5	-	1	495	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	125					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTCCGGTGGCGCCAGGGCGC	0.672																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(373-375)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 5							30.0	27.0	28.0					21																	28338337		2199	4297	6496	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338337C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.374G>A	21.37:g.28338337C>T	ENSP00000284987:p.Arg125His						p.R125H	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			1	495	-			125					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.374G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598651	0.46318	.	.	ENSG00000154736	ENST00000284987	T	0.06449	3.3	4.18	4.18	0.49190	Peptidase M12B, propeptide (1);	0.440276	0.22874	N	0.054586	T	0.07143	0.0181	N	0.14661	0.345	0.28491	N	0.914485	P	0.48407	0.91	P	0.48921	0.595	T	0.12400	-1.0549	10	0.49607	T	0.09	.	14.0674	0.64839	0.0:1.0:0.0:0.0	.	125	Q9UNA0	ATS5_HUMAN	H	125	ENSP00000284987:R125H	ENSP00000284987:R125H	R	-	2	0	ADAMTS5	27260208	1.000000	0.71417	0.981000	0.43875	0.837000	0.47467	2.266000	0.43320	2.155000	0.67459	0.563000	0.77884	CGC		0.672	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			6	38	0	0	0	1	0	6	38				
GTDC1	79712	broad.mit.edu	37	2	144704677	144704677	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:144704677G>T	ENST00000392869.2	-	11	1471	c.1319C>A	c.(1318-1320)gCa>gAa	p.A440E	GTDC1_ENST00000463875.2_Missense_Mutation_p.A311E|GTDC1_ENST00000344850.4_Missense_Mutation_p.A440E|GTDC1_ENST00000392867.3_Missense_Mutation_p.A355E|GTDC1_ENST00000241391.5_Missense_Mutation_p.A355E|GTDC1_ENST00000542155.1_Missense_Mutation_p.A440E|GTDC1_ENST00000409298.1_Missense_Mutation_p.A322E|GTDC1_ENST00000409214.1_Missense_Mutation_p.A440E|AC016910.1_ENST00000422799.1_RNA	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	440					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATGTAGGGCTGCCCAAGAAAA	0.448																																						ENST00000409214.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25						c.(1318-1320)gCa>gAa		glycosyltransferase-like domain containing 1							75.0	75.0	75.0					2																	144704677		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144704677G>T	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1319C>A	2.37:g.144704677G>T	ENSP00000376608:p.Ala440Glu					AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392869.1_Missense_Mutation_p.A440E|GTDC1_ENST00000392867.3_Missense_Mutation_p.A355E|GTDC1_ENST00000463875.2_Missense_Mutation_p.A311E|GTDC1_ENST00000542155.1_Missense_Mutation_p.A440E|GTDC1_ENST00000409298.1_Missense_Mutation_p.A322E|GTDC1_ENST00000241391.5_Missense_Mutation_p.A355E|GTDC1_ENST00000344850.4_Missense_Mutation_p.A440E	p.A440E	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	12	1597	-			440					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1319C>A	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	6.863	0.528548	0.13127	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T;T	0.75704	0.99;0.99;1.03;-0.96;0.99;1.03;0.99;0.97	5.96	4.15	0.48705	.	0.221056	0.46758	N	0.000267	T	0.62962	0.2471	L	0.46157	1.445	0.42859	D	0.994103	B;B;B;B	0.22414	0.069;0.028;0.001;0.017	B;B;B;B	0.25759	0.063;0.039;0.012;0.01	T	0.54098	-0.8344	10	0.02654	T	1	-18.44	11.4459	0.50123	0.065:0.0:0.8087:0.1263	.	440;355;322;440	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62	.;.;.;GTDC1_HUMAN	E	440;440;355;322;440;355;440;311	ENSP00000376608:A440E;ENSP00000386581:A440E;ENSP00000376606:A355E;ENSP00000386691:A322E;ENSP00000438323:A440E;ENSP00000241391:A355E;ENSP00000339750:A440E;ENSP00000437964:A311E	ENSP00000241391:A355E	A	-	2	0	GTDC1	144421147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.924000	0.63418	0.835000	0.34877	-0.150000	0.13652	GCA		0.448	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		8	43	1	0	0.00307968	1	0.00314497	8	43				
UTP11L	51118	broad.mit.edu	37	1	38484767	38484767	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:38484767G>A	ENST00000373014.4	+	5	440	c.379G>A	c.(379-381)Gat>Aat	p.D127N	UTP11L_ENST00000537711.1_Missense_Mutation_p.D127N|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	127					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCATCTGCTGGATTTCCAGGG	0.373																																						ENST00000373014.4																			0				NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(379-381)Gat>Aat		UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)							89.0	89.0	89.0					1																	38484767		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484767G>A	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.379G>A	1.37:g.38484767G>A	ENSP00000362105:p.Asp127Asn					UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Missense_Mutation_p.D127N	p.D127N	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN			5	440	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	127					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.379G>A	CCDS429.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293684	0.95546	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.94	5.94	0.96194	.	0.044222	0.85682	D	0.000000	T	0.77025	0.4070	M	0.79926	2.475	0.80722	D	1	D	0.54601	0.967	P	0.54759	0.76	T	0.76046	-0.3102	9	0.41790	T	0.15	-29.4556	19.9686	0.97276	0.0:0.0:1.0:0.0	.	127	Q9Y3A2	UTP11_HUMAN	N	127	.	ENSP00000362105:D127N	D	+	1	0	UTP11L	38257354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.016000	0.88706	2.820000	0.97059	0.650000	0.86243	GAT		0.373	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		6	66	0	0	0	1	0	6	66				
GFM2	84340	broad.mit.edu	37	5	74035904	74035904	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:74035904C>G	ENST00000296805.3	-	12	1446	c.989G>C	c.(988-990)gGa>gCa	p.G330A	GFM2_ENST00000509430.1_Missense_Mutation_p.G330A|GFM2_ENST00000345239.2_Missense_Mutation_p.G330A|GFM2_ENST00000427854.2_Missense_Mutation_p.G330A	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CAGGGCACTTCCACAAAGCAC	0.418																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(988-990)gGa>gCa		G elongation factor, mitochondrial 2							130.0	111.0	118.0					5																	74035904		2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74035904C>G	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.989G>C	5.37:g.74035904C>G	ENSP00000296805:p.Gly330Ala					GFM2_ENST00000509430.1_Missense_Mutation_p.G330A|GFM2_ENST00000427854.2_Missense_Mutation_p.G330A|GFM2_ENST00000345239.2_Missense_Mutation_p.G330A	p.G330A	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	12	1446	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	330						Missense_Mutation	SNP	ENST00000296805.3	37	c.989G>C	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962849	0.92791	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.82	4.94	0.65067	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92157	0.5733	10	0.87932	D	0	-20.6408	15.3088	0.74014	0.0:0.9319:0.0:0.0681	.	330;330;330;330;330	F5H687;Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;.;RRF2M_HUMAN	A	330	ENSP00000296805:G330A;ENSP00000296804:G330A;ENSP00000427004:G330A;ENSP00000405808:G330A	ENSP00000296805:G330A	G	-	2	0	GFM2	74071660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.775000	0.68915	2.751000	0.94390	0.650000	0.86243	GGA		0.418	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		5	47	0	0	0	1	0	5	47				
TBC1D10A	83874	broad.mit.edu	37	22	30690932	30690932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:30690932C>A	ENST00000215790.7	-	5	801	c.637G>T	c.(637-639)Gag>Tag	p.E213*	RP1-130H16.18_ENST00000447976.1_Nonsense_Mutation_p.E87*|TBC1D10A_ENST00000403477.3_Nonsense_Mutation_p.E220*|TBC1D10A_ENST00000403362.1_Nonsense_Mutation_p.E125*	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	213	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGTGGTACCTCAGCAGGCATA	0.657																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(637-639)Gag>Tag		TBC1 domain family, member 10A							57.0	60.0	59.0					22																	30690932		2203	4300	6503	SO:0001587	stop_gained	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30690932C>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.637G>T	22.37:g.30690932C>A	ENSP00000215790:p.Glu213*					TBC1D10A_ENST00000403362.1_Nonsense_Mutation_p.E125*|TBC1D10A_ENST00000403477.3_Nonsense_Mutation_p.E220*|RP1-130H16.18_ENST00000447976.1_Nonsense_Mutation_p.E87*	p.E213*	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			5	801	-			213			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Nonsense_Mutation	SNP	ENST00000215790.7	37	c.637G>T	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	37	6.571930	0.97671	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362;ENST00000393906	.	.	.	4.33	3.32	0.38043	.	0.049527	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	11.2319	0.48918	0.0:0.9091:0.0:0.0909	.	.	.	.	X	87;213;220;125;125	.	ENSP00000331267:E74X	E	-	1	0	TBC1D10A;RP1-130H16.18	29020932	1.000000	0.71417	0.951000	0.38953	0.950000	0.60333	7.240000	0.78192	1.183000	0.42943	0.561000	0.74099	GAG		0.657	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		14	67	1	0	1.3612e-06	1	1.50723e-06	14	67				
SBNO2	22904	broad.mit.edu	37	19	1122254	1122254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:1122254C>A	ENST00000361757.3	-	11	1270	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	SBNO2_ENST00000587024.1_Nonsense_Mutation_p.E345*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.E288*	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	345					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGACGCCCTCTGAGGTAGTG	0.647																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1033-1035)Gag>Tag		strawberry notch homolog 2 (Drosophila)							28.0	34.0	32.0					19																	1122254		2174	4267	6441	SO:0001587	stop_gained	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1122254C>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1033G>T	19.37:g.1122254C>A	ENSP00000354733:p.Glu345*					SBNO2_ENST00000587024.1_Nonsense_Mutation_p.E345*|SBNO2_ENST00000438103.2_Nonsense_Mutation_p.E288*	p.E345*	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_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)	11	1270	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	345					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Nonsense_Mutation	SNP	ENST00000361757.3	37	c.1033G>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	39	7.287280	0.98189	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.5	3.5	0.40072	.	0.111526	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-28.3094	14.5373	0.67969	0.0:1.0:0.0:0.0	.	.	.	.	X	345;288;369	.	ENSP00000250872:E369X	E	-	1	0	SBNO2	1073254	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.630000	0.83225	1.939000	0.56221	0.561000	0.74099	GAG		0.647	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		3	10	1	0	0.00024832	1	0.000259078	3	10				
ANGPT2	285	broad.mit.edu	37	8	6372251	6372251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:6372251G>A	ENST00000325203.5	-	6	1453	c.979C>T	c.(979-981)Cga>Tga	p.R327*	ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.R275*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.R326*|ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.R326*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	327	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCCTCACGTCGCTGAATAATT	0.478																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(979-981)Cga>Tga		angiopoietin 2							165.0	177.0	173.0					8																	6372251		2203	4300	6503	SO:0001587	stop_gained	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6372251G>A	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.979C>T	8.37:g.6372251G>A	ENSP00000314897:p.Arg327*					ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.R275*|ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.R326*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.R326*|MCPH1_ENST00000344683.5_Intron	p.R327*			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	6	1453	-		Hepatocellular(245;0.0663)	327			Fibrinogen C-terminal.		A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Nonsense_Mutation	SNP	ENST00000325203.5	37	c.979C>T	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	40	8.007394	0.98607	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312;ENST00000523120	.	.	.	5.81	3.81	0.43845	.	0.161185	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3224	0.66496	0.0:0.0:0.7259:0.2741	.	.	.	.	X	327;326;275;326	.	ENSP00000314897:R327X	R	-	1	2	ANGPT2	6359659	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.059000	0.41384	1.433000	0.47394	0.655000	0.94253	CGA		0.478	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		38	192	0	0	0	1	0	38	192				
GBA2	57704	broad.mit.edu	37	9	35737723	35737723	+	Intron	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35737723G>C	ENST00000378103.3	-	16	3029				GBA2_ENST00000545786.1_Intron|GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378088.1_Missense_Mutation_p.L144V|GBA2_ENST00000378094.4_Intron	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGTGGAGAGATGGGAAAAG	0.493																																						ENST00000378088.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(430-432)Ctc>Gtc		glucosidase, beta (bile acid) 2							93.0	82.0	86.0					9																	35737723		2203	4300	6503	SO:0001627	intron_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35737723G>C	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2505+21C>G	9.37:g.35737723G>C						GBA2_ENST00000545786.1_Intron|GBA2_ENST00000378094.4_Intron|GBA2_ENST00000378103.3_Intron	p.L144V			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	812	-	all_epithelial(49;0.167)		0					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.430C>G	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479073	0.26511	.	.	ENSG00000070610	ENST00000378088	.	.	.	5.24	4.23	0.50019	.	.	.	.	.	T	0.30070	0.0753	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.17379	-1.0371	5	0.40728	T	0.16	.	4.2714	0.10789	0.1458:0.2388:0.6154:0.0	.	.	.	.	V	144	.	ENSP00000367328:L144V	L	-	1	0	GBA2	35727723	0.308000	0.24509	0.017000	0.16124	0.073000	0.16967	2.460000	0.45031	2.468000	0.83385	0.561000	0.74099	CTC		0.493	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		7	55	0	0	0	1	0	7	55				
CCR3	1232	broad.mit.edu	37	3	46307450	46307450	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:46307450C>G	ENST00000357422.2	+	4	1344	c.801C>G	c.(799-801)atC>atG	p.I267M	CCR3_ENST00000541018.1_Missense_Mutation_p.I267M|CCR3_ENST00000395940.2_Missense_Mutation_p.I267M|CCR3_ENST00000395942.2_Missense_Mutation_p.I267M|CCR3_ENST00000545097.1_Missense_Mutation_p.I288M			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	267					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ATCAATCCATCTTATTTGGAA	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(799-801)atC>atG		chemokine (C-C motif) receptor 3							99.0	94.0	96.0					3																	46307450		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307450C>G	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.801C>G	3.37:g.46307450C>G	ENSP00000350003:p.Ile267Met					CCR3_ENST00000541018.1_Missense_Mutation_p.I267M|CCR3_ENST00000545097.1_Missense_Mutation_p.I288M|CCR3_ENST00000395940.2_Missense_Mutation_p.I267M|CCR3_ENST00000395942.2_Missense_Mutation_p.I267M	p.I267M			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1344	+			267					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.801C>G	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	C	1.739	-0.492142	0.04322	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.48	0.883	0.19177	GPCR, rhodopsin-like superfamily (1);	2.011330	0.02537	N	0.094250	T	0.58595	0.2133	L	0.28054	0.825	0.09310	N	1	B;B	0.16802	0.019;0.01	B;B	0.16722	0.016;0.016	T	0.46034	-0.9220	10	0.51188	T	0.08	.	5.1642	0.15077	0.1152:0.4226:0.3548:0.1074	.	288;267	F5GWL6;P51677	.;CCR3_HUMAN	M	267;288;267;267;267	ENSP00000350003:I267M;ENSP00000441600:I288M;ENSP00000440097:I267M;ENSP00000379271:I267M;ENSP00000379273:I267M	ENSP00000350003:I267M	I	+	3	3	CCR3	46282454	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.125000	0.10579	0.229000	0.21039	-0.175000	0.13238	ATC		0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			22	65	0	0	0	1	0	22	65				
RUNX2	860	broad.mit.edu	37	6	45405688	45405688	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:45405688G>C	ENST00000371438.1	+	4	943	c.585G>C	c.(583-585)aaG>aaC	p.K195N	RUNX2_ENST00000359524.5_Missense_Mutation_p.K181N|RUNX2_ENST00000371432.3_Missense_Mutation_p.K181N|RUNX2_ENST00000465038.2_Missense_Mutation_p.K195N|RUNX2_ENST00000541979.1_Missense_Mutation_p.K263N|RUNX2_ENST00000371436.6_Missense_Mutation_p.K195N|RUNX2_ENST00000576263.1_Missense_Mutation_p.K195N|RUNX2_ENST00000352853.5_Missense_Mutation_p.K263N	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	195	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGCAGGCAAGAGTTTCACCT	0.388																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(583-585)aaG>aaC		runt-related transcription factor 2							171.0	175.0	174.0					6																	45405688		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45405688G>C	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.585G>C	6.37:g.45405688G>C	ENSP00000360493:p.Lys195Asn					RUNX2_ENST00000576263.1_Missense_Mutation_p.K195N|RUNX2_ENST00000352853.5_Missense_Mutation_p.K263N|RUNX2_ENST00000371432.3_Missense_Mutation_p.K181N|RUNX2_ENST00000371436.6_Missense_Mutation_p.K195N|RUNX2_ENST00000541979.1_Missense_Mutation_p.K263N|RUNX2_ENST00000359524.5_Missense_Mutation_p.K181N|RUNX2_ENST00000465038.2_Missense_Mutation_p.K195N	p.K195N	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			4	943	+			195			Runt.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.585G>C	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389318	0.61956	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99691	-6.42;-6.42;-6.42;-6.42;-6.42;-6.42;-6.42	5.4	5.4	0.78164	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97282	0.9918	10	0.87932	D	0	-8.837	19.5434	0.95282	0.0:0.0:1.0:0.0	.	263;195;181	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	N	195;263;263;195;195;181;181	ENSP00000420707:K195N;ENSP00000319087:K263N;ENSP00000446290:K263N;ENSP00000360493:K195N;ENSP00000360491:K195N;ENSP00000352514:K181N;ENSP00000360486:K181N	ENSP00000319087:K263N	K	+	3	2	RUNX2	45513666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.005000	0.88553	2.675000	0.91044	0.591000	0.81541	AAG		0.388	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		20	133	0	0	0	1	0	20	133				
IQCG	84223	broad.mit.edu	37	3	197665571	197665571	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:197665571C>T	ENST00000265239.6	-	5	787	c.363G>A	c.(361-363)ccG>ccA	p.P121P	IQCG_ENST00000455191.1_Silent_p.P121P|IQCG_ENST00000453254.1_Silent_p.P121P|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	121						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CAGTTATTAACGGACTGGGTA	0.388																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(361-363)ccG>ccA		IQ motif containing G							244.0	259.0	254.0					3																	197665571		2203	4300	6503	SO:0001819	synonymous_variant	84223							g.chr3:197665571C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.363G>A	3.37:g.197665571C>T						IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Silent_p.P121P|IQCG_ENST00000453254.1_Silent_p.P121P	p.P121P	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	5	787	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		121					Q9BST2|Q9HAG8	Silent	SNP	ENST00000265239.6	37	c.363G>A	CCDS3331.1																																																																																				0.388	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		80	281	0	0	0	1	0	80	281				
AMDHD2	51005	broad.mit.edu	37	16	2578096	2578096	+	Missense_Mutation	SNP	G	G	T	rs370892920		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:2578096G>T	ENST00000293971.6	+	6	758	c.664G>T	c.(664-666)Gct>Tct	p.A222S	AMDHD2_ENST00000413459.3_Missense_Mutation_p.A222S|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000302956.4_Missense_Mutation_p.A222S	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	222					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGCAGAGGATGCTGTGTGGAG	0.687																																						ENST00000302956.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(664-666)Gct>Tct		amidohydrolase domain containing 2							68.0	73.0	71.0					16																	2578096		2198	4300	6498	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2578096G>T	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.664G>T	16.37:g.2578096G>T	ENSP00000293971:p.Ala222Ser					AMDHD2_ENST00000293971.6_Missense_Mutation_p.A222S|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A222S|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron	p.A222S			Q9Y303	NAGA_HUMAN			6	758	+			222					B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37	c.664G>T		.	.	.	.	.	.	.	.	.	.	G	17.12	3.308259	0.60305	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;D	0.99944	-8.52;-8.52;-8.52	5.43	5.43	0.79202	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.99935	0.9971	M	0.86953	2.85	0.80722	D	1	D;P;D	0.64830	0.994;0.955;0.972	D;P;P	0.67231	0.95;0.859;0.868	D	0.95329	0.8428	10	0.59425	D	0.04	-2.4143	13.6728	0.62436	0.0:0.0:0.845:0.155	.	222;222;222	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	S	222	ENSP00000391596:A222S;ENSP00000307481:A222S;ENSP00000293971:A222S	ENSP00000293971:A222S	A	+	1	0	AMDHD2	2518097	1.000000	0.71417	0.109000	0.21407	0.114000	0.19823	7.615000	0.83006	2.547000	0.85894	0.655000	0.94253	GCT		0.687	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		13	104	1	0	1.36491e-13	1	1.57155e-13	13	104				
ASPA	443	broad.mit.edu	37	17	3392544	3392544	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:3392544C>A	ENST00000263080.2	+	4	700	c.542C>A	c.(541-543)cCt>cAt	p.P181H	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P181H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	181			P -> T (in CAND). {ECO:0000269|PubMed:10909858}.		aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GAAGTTGGTCCTCAGCCTCAA	0.308																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17	GRCh37	CM063850	ASPA	M		c.(541-543)cCt>cAt		aspartoacylase	L-Aspartic Acid(DB00128)						117.0	122.0	120.0					17																	3392544		2203	4300	6503	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3392544C>A	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.542C>A	17.37:g.3392544C>A	ENSP00000263080:p.Pro181His					SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.P181H	p.P181H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			4	700	+			181		P -> T (in CAND).				Missense_Mutation	SNP	ENST00000263080.2	37	c.542C>A	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	c	26.6	4.749897	0.89753	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97941	-4.62;-4.62	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98937	0.9639	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99577	1.0972	10	0.87932	D	0	-12.0057	19.319	0.94229	0.0:1.0:0.0:0.0	.	181	P45381	ACY2_HUMAN	H	181	ENSP00000409976:P181H;ENSP00000263080:P181H	ENSP00000263080:P181H	P	+	2	0	ASPA	3339294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.206000	0.77891	2.894000	0.99253	0.655000	0.94253	CCT		0.308	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		11	95	1	0	0.000673444	1	0.00069509	11	95				
ARPC1B	10095	broad.mit.edu	37	7	98988876	98988876	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:98988876G>A	ENST00000451682.1	+	9	1092	c.783G>A	c.(781-783)gcG>gcA	p.A261A	ARPC1B_ENST00000252725.5_Splice_Site_p.A261A|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	261					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCAGCGGTGAGGAATA	0.612																																						ENST00000451682.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.e9+1		actin related protein 2/3 complex, subunit 1B, 41kDa							66.0	53.0	58.0					7																	98988876		2203	4300	6503	SO:0001630	splice_region_variant	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98988876G>A	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.783+1G>A	7.37:g.98988876G>A						ARPC1B_ENST00000252725.5_Splice_Site_p.A261_splice	p.A261_splice			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	1092	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		261					Q9BU00	Splice_Site	SNP	ENST00000451682.1	37	c.783_splice	CCDS5661.1																																																																																				0.612	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720	Silent	6	17	0	0	0	1	0	6	17				
LATS2	26524	broad.mit.edu	37	13	21549414	21549414	+	Silent	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:21549414G>A	ENST00000382592.4	-	8	3267	c.2862C>T	c.(2860-2862)tcC>tcT	p.S954S	LATS2_ENST00000542899.1_Silent_p.S954S	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGTGGTCTGCGGAGCAGCACA	0.617																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2860-2862)tcC>tcT		large tumor suppressor kinase 2							44.0	45.0	45.0					13																	21549414		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21549414G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2862C>T	13.37:g.21549414G>A						LATS2_ENST00000542899.1_Silent_p.S954S	p.S954S	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	8	3267	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	954			Protein kinase.			Silent	SNP	ENST00000382592.4	37	c.2862C>T	CCDS9294.1																																																																																				0.617	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			6	45	0	0	0	1	0	6	45				
DYNC1H1	1778	broad.mit.edu	37	14	102469281	102469281	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:102469281G>C	ENST00000360184.4	+	23	5026	c.4862G>C	c.(4861-4863)aGa>aCa	p.R1621T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1621	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TATCTGGAAAGAGAGCGGTCA	0.453																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(4861-4863)aGa>aCa		dynein, cytoplasmic 1, heavy chain 1							68.0	67.0	67.0					14																	102469281		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102469281G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4862G>C	14.37:g.102469281G>C	ENSP00000348965:p.Arg1621Thr						p.R1621T	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			23	5026	+			1621			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.4862G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827809	0.90955	.	.	ENSG00000197102	ENST00000360184	T	0.59502	0.26	5.43	5.43	0.79202	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.59778	-0.7390	10	0.17832	T	0.49	.	19.2357	0.93858	0.0:0.0:1.0:0.0	.	1621	Q14204	DYHC1_HUMAN	T	1621	ENSP00000348965:R1621T	ENSP00000348965:R1621T	R	+	2	0	DYNC1H1	101539034	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.713000	0.98740	2.554000	0.86153	0.655000	0.94253	AGA		0.453	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		10	46	0	0	0	1	0	10	46				
MOK	5891	broad.mit.edu	37	14	102732227	102732227	+	Silent	SNP	G	G	T	rs141604419		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:102732227G>T	ENST00000361847.2	-	3	376	c.145C>A	c.(145-147)Cga>Aga	p.R49R	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Silent_p.R49R|MOK_ENST00000524214.1_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TGGATCTCTCGTAGGTTGTTG	0.378																																						ENST00000361847.2																			0											c.(145-147)Cga>Aga		MOK protein kinase							156.0	145.0	149.0					14																	102732227		2203	4300	6503	SO:0001819	synonymous_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102732227G>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.145C>A	14.37:g.102732227G>T						MOK_ENST00000193029.6_5'UTR|MOK_ENST00000524214.1_Intron|MOK_ENST00000522874.1_Silent_p.R49R	p.R49R	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			3	376	-			49			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	ENST00000361847.2	37	c.145C>A	CCDS9971.1																																																																																				0.378	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			8	52	1	0	0.000274275	1	0.000285128	8	52				
MAP3K12	7786	broad.mit.edu	37	12	53876704	53876704	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr12:53876704C>T	ENST00000267079.2	-	12	2009	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R628H|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R628H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	595					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATGAAGCCCACGGAGGGCGGG	0.672																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1783-1785)cGt>cAt		mitogen-activated protein kinase kinase kinase 12							39.0	45.0	43.0					12																	53876704		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876704C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1784G>A	12.37:g.53876704C>T	ENSP00000267079:p.Arg595His					MAP3K12_ENST00000547035.1_Missense_Mutation_p.R628H|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R628H	p.R595H	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	2009	-			595					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1784G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995879	0.74703	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.80214	-1.32;-1.35;-1.35	3.99	3.99	0.46301	.	0.000000	0.46442	D	0.000290	T	0.77705	0.4170	L	0.32530	0.975	0.46260	D	0.998956	D;P	0.53151	0.958;0.93	P;B	0.48488	0.579;0.375	T	0.81695	-0.0816	10	0.72032	D	0.01	.	16.0449	0.80714	0.0:1.0:0.0:0.0	.	628;595	G3V1Y2;Q12852	.;M3K12_HUMAN	H	595;628;628	ENSP00000267079:R595H;ENSP00000449038:R628H;ENSP00000448689:R628H	ENSP00000267079:R595H	R	-	2	0	MAP3K12	52162971	0.007000	0.16637	1.000000	0.80357	0.646000	0.38490	0.951000	0.29135	2.523000	0.85059	0.491000	0.48974	CGT		0.672	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		9	59	0	0	0	1	0	9	59				
CPAMD8	27151	broad.mit.edu	37	19	17115116	17115116	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:17115116C>T	ENST00000443236.1	-	8	812	c.781G>A	c.(781-783)Gcg>Acg	p.A261T	CPAMD8_ENST00000388925.4_Missense_Mutation_p.A214T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	214						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGTTGTACGCGTGGCCTTGC	0.463																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(781-783)Gcg>Acg		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							106.0	99.0	101.0					19																	17115116		1908	4121	6029	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17115116C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.781G>A	19.37:g.17115116C>T	ENSP00000402505:p.Ala261Thr					CPAMD8_ENST00000388925.4_Missense_Mutation_p.A214T	p.A261T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			8	812	-			214					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.781G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.937473	0.00484	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.12039	2.72;2.72	2.73	-1.65	0.08291	Alpha-2-macroglobulin, N-terminal (1);	3.447080	0.02759	N	0.118410	T	0.02610	0.0079	N	0.00179	-1.91	0.19300	N	0.999973	B	0.10296	0.003	B	0.06405	0.002	T	0.44513	-0.9323	10	0.05436	T	0.98	.	6.1399	0.20253	0.0:0.408:0.0:0.592	.	214	Q8IZJ3	CPMD8_HUMAN	T	261;214	ENSP00000291440:A261T;ENSP00000373577:A214T	ENSP00000291440:A261T	A	-	1	0	CPAMD8	16976116	1.000000	0.71417	0.951000	0.38953	0.012000	0.07955	1.319000	0.33655	-0.087000	0.12528	-1.247000	0.01520	GCG		0.463	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		10	66	0	0	0	1	0	10	66				
PDE7B	27115	broad.mit.edu	37	6	136470273	136470273	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr6:136470273G>A	ENST00000308191.6	+	5	670	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	123					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TTTCTTGTTTGATCGCTTGAC	0.333																																						ENST00000308191.6																			0				breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(367-369)Gat>Aat		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						196.0	174.0	181.0					6																	136470273		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136470273G>A	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.367G>A	6.37:g.136470273G>A	ENSP00000310661:p.Asp123Asn					RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	p.D123N	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	5	670	+	Colorectal(23;0.24)		123					Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.367G>A	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759371	0.69763	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.76060	-0.99	5.37	5.37	0.77165	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	L	0.42581	1.335	0.80722	D	1	D;B	0.89917	1.0;0.384	D;B	0.85130	0.997;0.302	T	0.69989	-0.4995	10	0.17369	T	0.5	.	19.4789	0.95000	0.0:0.0:1.0:0.0	.	175;123	A1E5M1;Q9NP56	.;PDE7B_HUMAN	N	123;259	ENSP00000310661:D123N	ENSP00000310661:D123N	D	+	1	0	PDE7B	136511966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.497000	0.97970	2.694000	0.91930	0.555000	0.69702	GAT		0.333	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			9	41	0	0	0	1	0	9	41				
LRRC8A	56262	broad.mit.edu	37	9	131670253	131670253	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:131670253C>T	ENST00000259324.5	+	3	1333	c.810C>T	c.(808-810)atC>atT	p.I270I	LRRC8A_ENST00000372600.4_Silent_p.I270I|LRRC8A_ENST00000372599.3_Silent_p.I270I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	270					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGACCATCATCAAGGTGATCA	0.542																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(808-810)atC>atT		leucine rich repeat containing 8 family, member A							256.0	212.0	227.0					9																	131670253		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670253C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.810C>T	9.37:g.131670253C>T						LRRC8A_ENST00000372599.3_Silent_p.I270I|LRRC8A_ENST00000372600.4_Silent_p.I270I	p.I270I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1333	+			270					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.810C>T	CCDS35155.1																																																																																				0.542	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		22	110	0	0	0	1	0	22	110				
NR0B1	190	broad.mit.edu	37	X	30326446	30326446	+	Silent	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:30326446C>A	ENST00000378970.4	-	1	1269	c.1035G>T	c.(1033-1035)ccG>ccT	p.P345P	NR0B1_ENST00000453287.1_Silent_p.P345P|NR0B1_ENST00000378963.1_Silent_p.P50P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	345	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTCCGCCGGCGGTGCCAAAT	0.637											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(1033-1035)ccG>ccT		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						32.0	29.0	30.0					X																	30326446		2202	4299	6501	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326446C>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1035G>T	X.37:g.30326446C>A			OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000378963.1_Silent_p.P50P|NR0B1_ENST00000453287.1_Silent_p.P345P	p.P345P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	1269	-			345			Ligand-binding (By similarity).		Q96F69	Silent	SNP	ENST00000378970.4	37	c.1035G>T	CCDS14223.1																																																																																				0.637	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		12	16	1	0	0.000978159	1	0.00100601	12	16				
P2RY2	5029	broad.mit.edu	37	11	72945651	72945651	+	Silent	SNP	C	C	T	rs147817701	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:72945651C>T	ENST00000311131.2	+	3	914	c.447C>T	c.(445-447)taC>taT	p.Y149Y	P2RY2_ENST00000393597.2_Silent_p.Y149Y|P2RY2_ENST00000393596.2_Silent_p.Y149Y	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	149					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGGCCCGCTACGCTCGCCGGG	0.697													C|||	29	0.00579073	0.0008	0.0	5008	,	,		14981	0.0		0.002	False		,,,				2504	0.0266					ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(445-447)taC>taT		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)	C	,,	3,4397	6.2+/-15.9	0,3,2197	37.0	38.0	38.0		447,447,447	-9.3	0.8	11	dbSNP_134	38	12,8572	9.1+/-34.3	0,12,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	P2RY2	NM_002564.2,NM_176071.1,NM_176072.1	,,	0,15,6477	TT,TC,CC		0.1398,0.0682,0.1155	,,	149/378,149/378,149/378	72945651	15,12969	2200	4292	6492	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945651C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.447C>T	11.37:g.72945651C>T						P2RY2_ENST00000393597.2_Silent_p.Y149Y|P2RY2_ENST00000393596.2_Silent_p.Y149Y	p.Y149Y	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	914	+			149					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.447C>T	CCDS8219.1																																																																																				0.697	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		17	57	0	0	0	1	0	17	57				
PTENP1	11191	broad.mit.edu	37	9	33676094	33676094	+	RNA	SNP	C	C	G	rs7853346	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:33676094C>G	ENST00000532280.1	-	0	1403					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		CTATAATCCACATGATTCTTT	0.423													g|||	1415	0.282548	0.4425	0.2767	5008	,	,		22017	0.2153		0.2913	False		,,,				2504	0.1309					ENST00000532280.1																			0																																																			11191							g.chr9:33676094C>G	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676094C>G								NR_023917.1						0	1403	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.423	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		5	110	0	0	0	1	0	5	110				
ZDHHC15	158866	broad.mit.edu	37	X	74670646	74670646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chrX:74670646C>A	ENST00000373367.3	-	4	600	c.370G>T	c.(370-372)Gga>Tga	p.G124*	ZDHHC15_ENST00000373361.3_Nonsense_Mutation_p.G124*|ZDHHC15_ENST00000541184.1_Nonsense_Mutation_p.G115*	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	124					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CCTCCACTTCCAGTTCTTGTG	0.438																																						ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.(343-345)Gga>Tga		zinc finger, DHHC-type containing 15							145.0	124.0	131.0					X																	74670646		2203	4300	6503	SO:0001587	stop_gained	158866					integral to membrane	zinc ion binding	g.chrX:74670646C>A	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.370G>T	X.37:g.74670646C>A	ENSP00000362465:p.Gly124*					ZDHHC15_ENST00000373367.3_Nonsense_Mutation_p.G124*|ZDHHC15_ENST00000373361.3_Nonsense_Mutation_p.G124*	p.G115*	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN			3	820	-			124					B3KVG7|Q3SY30|Q6UWH3	Nonsense_Mutation	SNP	ENST00000373367.3	37	c.343G>T	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836945	0.91117	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	.	.	.	4.86	3.99	0.46301	.	0.157534	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.3243	10.2832	0.43552	0.0:0.8987:0.0:0.1013	.	.	.	.	X	124;115;124	.	ENSP00000362459:G124X	G	-	1	0	ZDHHC15	74587371	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	3.589000	0.53972	0.941000	0.37499	0.544000	0.68410	GGA		0.438	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		14	53	1	0	6.49762e-13	1	7.42218e-13	14	53				
MRPL4	51073	broad.mit.edu	37	19	10363274	10363274	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:10363274C>G	ENST00000253099.6	+	3	459	c.172C>G	c.(172-174)Cat>Gat	p.H58D	MRPL4_ENST00000590669.1_Missense_Mutation_p.H58D|MRPL4_ENST00000393733.2_Missense_Mutation_p.H58D|MRPL4_ENST00000307422.5_Missense_Mutation_p.H58D|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000588502.1_Missense_Mutation_p.H57D	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	58					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.H58D(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGTACCCACTCATCGACGCCC	0.677																																						ENST00000393733.2																			1	Substitution - Missense(1)	p.H58D(1)	breast(1)	breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(172-174)Cat>Gat		mitochondrial ribosomal protein L4							38.0	41.0	40.0					19																	10363274		2203	4300	6503	SO:0001583	missense	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10363274C>G	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.172C>G	19.37:g.10363274C>G	ENSP00000253099:p.His58Asp					MRPL4_ENST00000590669.1_Missense_Mutation_p.H58D|MRPL4_ENST00000307422.5_Missense_Mutation_p.H58D|MRPL4_ENST00000253099.6_Missense_Mutation_p.H58D|MRPL4_ENST00000588502.1_Missense_Mutation_p.H57D|CTD-2369P2.5_ENST00000592893.1_RNA	p.H58D			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	3	199	+		Renal(1328;0.0112)	58					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	c.172C>G	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004947	0.35415	.	.	ENSG00000105364	ENST00000253099;ENST00000307422;ENST00000393733	.	.	.	4.89	0.075	0.14397	.	0.269922	0.41097	D	0.000946	T	0.26774	0.0655	L	0.57536	1.79	0.09310	N	0.999999	P;B	0.37038	0.579;0.443	B;B	0.35073	0.195;0.095	T	0.11567	-1.0582	9	0.44086	T	0.13	-11.1431	4.0801	0.09922	0.2848:0.4968:0.1382:0.0802	.	58;58	Q9BYD3-2;Q9BYD3	.;RM04_HUMAN	D	58	.	ENSP00000253099:H58D	H	+	1	0	MRPL4	10224274	0.149000	0.22717	0.000000	0.03702	0.007000	0.05969	1.267000	0.33050	-0.023000	0.13963	-0.263000	0.10527	CAT		0.677	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			7	65	0	0	0	1	0	7	65				
ETV5	2119	broad.mit.edu	37	3	185797649	185797649	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr3:185797649T>C	ENST00000306376.5	-	7	853	c.607A>G	c.(607-609)Atg>Gtg	p.M203V	ETV5_ENST00000537818.1_Missense_Mutation_p.M245V|ETV5_ENST00000434744.1_Missense_Mutation_p.M203V|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	203					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCTTTGGCATCTGCAGGGGC	0.562			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(607-609)Atg>Gtg		ets variant 5							148.0	143.0	144.0					3																	185797649		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185797649T>C	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.607A>G	3.37:g.185797649T>C	ENSP00000306894:p.Met203Val					ETV5_ENST00000537818.1_Missense_Mutation_p.M245V|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.M203V	p.M203V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		7	853	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		203					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.607A>G	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	T	8.793	0.930965	0.18131	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.20881	2.04;2.04;2.04	5.34	5.34	0.76211	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.282399	0.40385	N	0.001116	T	0.18509	0.0444	L	0.44542	1.39	0.36896	D	0.890164	B;B	0.12013	0.002;0.005	B;B	0.17433	0.011;0.018	T	0.12372	-1.0550	10	0.16896	T	0.51	.	12.8344	0.57765	0.0:0.0:0.0:1.0	.	203;245	P41161;B7Z7D7	ETV5_HUMAN;.	V	203;203;245	ENSP00000306894:M203V;ENSP00000413755:M203V;ENSP00000441737:M245V	ENSP00000306894:M203V	M	-	1	0	ETV5	187280343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.765000	0.55272	2.015000	0.59207	0.460000	0.39030	ATG		0.562	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		15	100	0	0	0	1	0	15	100				
SAMHD1	25939	broad.mit.edu	37	20	35559199	35559199	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:35559199G>C	ENST00000262878.4	-	5	788	c.589C>G	c.(589-591)Ctc>Gtc	p.L197V	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	197	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGAACACAGAGAACATCTCGT	0.418																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(589-591)Ctc>Gtc		SAM domain and HD domain 1							198.0	180.0	186.0					20																	35559199		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35559199G>C	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.589C>G	20.37:g.35559199G>C	ENSP00000262878:p.Leu197Val					SAMHD1_ENST00000373694.5_5'UTR	p.L197V	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			5	788	-		Myeloproliferative disorder(115;0.00878)	197			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.589C>G	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401261	0.83120	.	.	ENSG00000101347	ENST00000262878	D	0.90324	-2.65	6.02	6.02	0.97574	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.67517	2.055	0.80722	D	1	D	0.54601	0.967	D	0.64687	0.928	D	0.93468	0.6816	10	0.52906	T	0.07	-19.1368	14.6664	0.68910	0.0688:0.0:0.9312:0.0	.	197	Q9Y3Z3	SAMH1_HUMAN	V	197	ENSP00000262878:L197V	ENSP00000262878:L197V	L	-	1	0	SAMHD1	34992613	1.000000	0.71417	0.971000	0.41717	0.918000	0.54935	6.602000	0.74141	2.850000	0.98022	0.650000	0.86243	CTC		0.418	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		17	120	0	0	0	1	0	17	120				
ATP8A2	51761	broad.mit.edu	37	13	26273442	26273442	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr13:26273442C>A	ENST00000381655.2	+	25	2485	c.2343C>A	c.(2341-2343)ttC>ttA	p.F781L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.F741L|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	741					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGAGGAGTTTCCTGGATTTGG	0.542																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2341-2343)ttC>ttA		ATPase, aminophospholipid transporter, class I, type 8A, member 2							75.0	74.0	74.0					13																	26273442		1969	4147	6116	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26273442C>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2343C>A	13.37:g.26273442C>A	ENSP00000371070:p.Phe781Leu					ATP8A2_ENST00000255283.8_Missense_Mutation_p.F741L|ATP8A2_ENST00000491840.1_3'UTR	p.F781L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2485	+		Breast(139;0.0201)|Lung SC(185;0.0225)	741					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2343C>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678272	0.68042	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.87729	-2.29;-2.29	5.88	4.13	0.48395	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	M	0.66439	2.03	0.54753	D	0.999989	D;D;D	0.59357	0.985;0.981;0.985	D;P;D	0.63381	0.914;0.86;0.914	D	0.89237	0.3581	10	0.48119	T	0.1	.	8.3174	0.32108	0.0:0.7102:0.0:0.2898	.	741;561;741	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	L	781;741;561	ENSP00000371070:F781L;ENSP00000255283:F741L	ENSP00000255283:F741L	F	+	3	2	ATP8A2	25171442	1.000000	0.71417	0.994000	0.49952	0.853000	0.48598	1.479000	0.35453	1.468000	0.48064	0.655000	0.94253	TTC		0.542	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		5	35	1	0	0.000602214	1	0.000623799	5	35				
KRTAP13-2	337959	broad.mit.edu	37	21	31744353	31744353	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:31744353C>A	ENST00000399889.2	-	1	204	c.179G>T	c.(178-180)tGc>tTc	p.C60F		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	60	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GGGCTCCCAGCAGATCTCCTG	0.607																																						ENST00000399889.2																			0				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(178-180)tGc>tTc		keratin associated protein 13-2							55.0	55.0	55.0					21																	31744353		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744353C>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.179G>T	21.37:g.31744353C>A	ENSP00000382777:p.Cys60Phe						p.C60F	NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN			1	204	-			60			5 X 10 AA approximate repeats.			Missense_Mutation	SNP	ENST00000399889.2	37	c.179G>T	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	0.410	-0.913851	0.02415	.	.	ENSG00000182816	ENST00000399889	T	0.04015	3.73	4.29	0.0428	0.14219	.	0.852901	0.09900	N	0.741199	T	0.05914	0.0154	M	0.65975	2.015	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.42275	-0.9461	10	0.33141	T	0.24	.	3.0402	0.06135	0.2829:0.4737:0.15:0.0934	.	60	Q52LG2	KR132_HUMAN	F	60	ENSP00000382777:C60F	ENSP00000382777:C60F	C	-	2	0	KRTAP13-2	30666224	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.336000	0.07863	-0.118000	0.11851	-0.150000	0.13652	TGC		0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			12	87	1	0	3.07112e-06	1	3.37473e-06	12	87				
NDUFV3	4731	broad.mit.edu	37	21	44317044	44317044	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr21:44317044T>A	ENST00000340344.4	+	2	122	c.56T>A	c.(55-57)cTc>cAc	p.L19H	NDUFV3_ENST00000354250.2_Missense_Mutation_p.L19H|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	19					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CAGACTATGCTCCAGGAAGCC	0.373																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(55-57)cTc>cAc		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						86.0	85.0	85.0					21																	44317044		2203	4300	6503	SO:0001583	missense	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44317044T>A		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.56T>A	21.37:g.44317044T>A	ENSP00000342895:p.Leu19His					NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Missense_Mutation_p.L19H	p.L19H	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	2	125	+			19					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.56T>A	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	T	7.068	0.567771	0.13560	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	5.2	3.89	0.44902	.	0.562832	0.17901	N	0.158172	T	0.50803	0.1637	L	0.47716	1.5	0.09310	N	1	P;D	0.76494	0.956;0.999	P;D	0.66351	0.606;0.943	T	0.33394	-0.9870	9	0.62326	D	0.03	-2.3175	7.1766	0.25749	0.2484:0.0:0.0:0.7516	.	19;19	P56181;P56181-2	NDUV3_HUMAN;.	H	19;19;2	.	ENSP00000342895:L19H	L	+	2	0	NDUFV3	43190113	0.006000	0.16342	0.004000	0.12327	0.033000	0.12548	1.626000	0.37039	2.070000	0.61991	0.533000	0.62120	CTC		0.373	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			16	94	0	0	0	1	0	16	94				
CLTCL1	8218	broad.mit.edu	37	22	19196585	19196585	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr22:19196585C>G	ENST00000263200.10	-	21	3361	c.3289G>C	c.(3289-3291)Gag>Cag	p.E1097Q	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1097Q|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1097Q|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1097	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCCGCAAACTCATATGCCCGG	0.502			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3289-3291)Gag>Cag		clathrin, heavy chain-like 1							64.0	65.0	65.0					22																	19196585		2036	4229	6265	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19196585C>G		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3289G>C	22.37:g.19196585C>G	ENSP00000445677:p.Glu1097Gln					CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1097Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1097Q	p.E1097Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			21	3361	-	Colorectal(54;0.0993)		1097			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3289G>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037287	0.54896	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.24908	1.83;1.83;1.83	4.0	4.0	0.46444	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.065906	0.64402	D	0.000014	T	0.51907	0.1702	M	0.77313	2.365	0.80722	D	1	D;D	0.64830	0.979;0.994	D;D	0.79108	0.966;0.992	T	0.57528	-0.7796	10	0.49607	T	0.09	-21.0908	16.2932	0.82760	0.0:1.0:0.0:0.0	.	1097;1097	P53675-2;P53675	.;CLH2_HUMAN	Q	1097	ENSP00000439662:E1097Q;ENSP00000445677:E1097Q;ENSP00000441158:E1097Q	ENSP00000445677:E1097Q	E	-	1	0	CLTCL1	17576585	1.000000	0.71417	0.999000	0.59377	0.167000	0.22549	6.968000	0.76086	2.047000	0.60756	0.655000	0.94253	GAG		0.502	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	11	0	0	0	1	0	3	11				
NCF2	4688	broad.mit.edu	37	1	183556034	183556034	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr1:183556034C>T	ENST00000367535.3	-	2	504	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NCF2_ENST00000413720.1_Missense_Mutation_p.E85K|NCF2_ENST00000367536.1_Missense_Mutation_p.E85K|NCF2_ENST00000418089.1_Missense_Mutation_p.E85K	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	85					aging (GO:0007568)|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)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	ACTTACTTCTCTGTCTGGTAG	0.507																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(253-255)Gag>Aag		neutrophil cytosolic factor 2							163.0	142.0	149.0					1																	183556034		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183556034C>T	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.253G>A	1.37:g.183556034C>T	ENSP00000356505:p.Glu85Lys					NCF2_ENST00000367536.1_Missense_Mutation_p.E85K|NCF2_ENST00000418089.1_Missense_Mutation_p.E85K|NCF2_ENST00000367535.3_Missense_Mutation_p.E85K	p.E85K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			2	527	-			85					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.253G>A	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599152	0.28534	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.17	4.26	0.50523	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.818461	0.11862	N	0.522283	T	0.66982	0.2845	L	0.61387	1.9	0.27963	N	0.936715	P;D;B	0.58268	0.939;0.982;0.2	P;P;B	0.58721	0.724;0.844;0.098	T	0.57100	-0.7869	10	0.14656	T	0.56	.	12.6915	0.56976	0.0:0.9187:0.0:0.0813	.	85;85;85	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	K	85;113;85;85;85	ENSP00000356506:E85K;ENSP00000399294:E85K;ENSP00000407217:E85K;ENSP00000356505:E85K	ENSP00000356505:E85K	E	-	1	0	NCF2	181822657	0.821000	0.29204	0.855000	0.33649	0.049000	0.14656	2.085000	0.41634	1.308000	0.44962	0.561000	0.74099	GAG		0.507	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		6	87	0	0	0	1	0	6	87				
PIPOX	51268	broad.mit.edu	37	17	27380585	27380585	+	Missense_Mutation	SNP	G	G	A	rs76753427	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:27380585G>A	ENST00000323372.4	+	4	958	c.632G>A	c.(631-633)cGt>cAt	p.R211H	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	211					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CAGCTCCTCCGTCCCCTGGGC	0.542													G|||	5	0.000998403	0.0	0.0	5008	,	,		17941	0.005		0.0	False		,,,				2504	0.0					ENST00000323372.4																			0				endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(631-633)cGt>cAt		pipecolic acid oxidase	Glycine(DB00145)						69.0	65.0	67.0					17																	27380585		2203	4300	6503	SO:0001583	missense	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27380585G>A	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.632G>A	17.37:g.27380585G>A	ENSP00000317721:p.Arg211His					PIPOX_ENST00000583215.1_3'UTR	p.R211H	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		4	958	+	Lung NSC(42;0.015)		211					B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	ENST00000323372.4	37	c.632G>A	CCDS11248.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	15.01	2.706008	0.48412	.	.	ENSG00000179761	ENST00000323372	D	0.82433	-1.61	5.77	-3.96	0.04106	FAD dependent oxidoreductase (1);	0.626201	0.17977	N	0.155648	T	0.63674	0.2531	L	0.51914	1.62	0.09310	N	1	B	0.20052	0.041	B	0.23018	0.043	T	0.55976	-0.8055	10	0.44086	T	0.13	-13.7798	3.1025	0.06330	0.4436:0.1065:0.3413:0.1085	.	211	Q9P0Z9	SOX_HUMAN	H	211	ENSP00000317721:R211H	ENSP00000317721:R211H	R	+	2	0	PIPOX	24404711	0.000000	0.05858	0.860000	0.33809	0.988000	0.76386	-0.564000	0.05936	-0.440000	0.07211	0.655000	0.94253	CGT		0.542	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1	NM_016518		10	58	0	0	0	1	0	10	58				
ATRNL1	26033	broad.mit.edu	37	10	116881500	116881500	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr10:116881500G>T	ENST00000355044.3	+	3	541	c.415G>T	c.(415-417)Gct>Tct	p.A139S	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.A139S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	139	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAATCATTTTGCTACAGAATG	0.274																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(415-417)Gct>Tct		attractin-like 1							108.0	110.0	109.0					10																	116881500		2203	4285	6488	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116881500G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.415G>T	10.37:g.116881500G>T	ENSP00000347152:p.Ala139Ser					ATRNL1_ENST00000527407.1_Missense_Mutation_p.A139S|ATRNL1_ENST00000529665.1_3'UTR	p.A139S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	3	541	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	139			CUB.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.415G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861119	0.91433	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.17528	2.27;2.27	5.26	5.26	0.73747	CUB (5);	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	L	0.41710	1.295	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.994;0.996	T	0.01639	-1.1306	10	0.41790	T	0.15	-18.0389	19.2144	0.93770	0.0:0.0:1.0:0.0	.	72;139;139	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	S	72;139	ENSP00000431423:A72S;ENSP00000347152:A139S	ENSP00000347152:A139S	A	+	1	0	ATRNL1	116871490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.616000	0.88540	0.563000	0.77884	GCT		0.274	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		23	103	1	0	1.66031e-10	1	1.87433e-10	23	103				
ASPH	444	broad.mit.edu	37	8	62496531	62496531	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:62496531A>T	ENST00000379454.4	-	15	1221	c.1034T>A	c.(1033-1035)cTt>cAt	p.L345H	ASPH_ENST00000541428.1_Missense_Mutation_p.L316H|ASPH_ENST00000523897.1_5'UTR	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	345					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGCAGCATCAAGTTCAGCTTT	0.269																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(946-948)cTt>cAt		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						59.0	61.0	60.0					8																	62496531		2203	4298	6501	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62496531A>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1034T>A	8.37:g.62496531A>T	ENSP00000368767:p.Leu345His					ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000379454.4_Missense_Mutation_p.L345H	p.L316H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			15	1107	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	345					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.947T>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389648	0.61956	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349	T;T;T	0.78003	0.48;0.48;-1.14	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.148616	0.44097	D	0.000493	D	0.86834	0.6028	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.996;0.998	D	0.88309	0.2955	10	0.87932	D	0	-10.4657	15.6639	0.77209	1.0:0.0:0.0:0.0	.	316;326;345	F5H667;F8W7A9;Q12797	.;.;ASPH_HUMAN	H	326;316;345;98	ENSP00000437864:L316H;ENSP00000368767:L345H;ENSP00000429718:L98H	ENSP00000368767:L345H	L	-	2	0	ASPH	62659085	1.000000	0.71417	0.956000	0.39512	0.992000	0.81027	7.419000	0.80179	2.158000	0.67659	0.455000	0.32223	CTT		0.269	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		9	35	0	0	0	1	0	9	35				
ACTB	60	broad.mit.edu	37	7	5567464	5567464	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:5567464G>C	ENST00000331789.5	-	6	1234	c.1043C>G	c.(1042-1044)tCg>tGg	p.S348W	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	348					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGTGGACAGCGAGGCCAGGAT	0.587																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(1042-1044)tCg>tGg		actin, beta							71.0	74.0	73.0					7																	5567464		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567464G>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1043C>G	7.37:g.5567464G>C	ENSP00000349960:p.Ser348Trp					ACTB_ENST00000464611.1_5'UTR	p.S348W	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	6	1234	-		Ovarian(82;0.0606)	348					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1043C>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005489	0.54254	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95588	-3.75	5.55	4.66	0.58398	.	0.000000	0.53938	D	0.000041	D	0.98782	0.9590	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98652	1.0680	10	0.87932	D	0	.	13.966	0.64209	0.0744:0.0:0.9255:0.0	.	348	P60709	ACTB_HUMAN	W	348;324;320;267	ENSP00000349960:S348W	ENSP00000440549:S267W	S	-	2	0	ACTB	5533990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.659000	0.83766	2.617000	0.88574	0.650000	0.86243	TCG		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		19	132	0	0	0	1	0	19	132				
ABCC1	4363	broad.mit.edu	37	16	16146637	16146637	+	Silent	SNP	C	C	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:16146637C>A	ENST00000399410.3	+	11	1612	c.1437C>A	c.(1435-1437)gtC>gtA	p.V479V	ABCC1_ENST00000346370.5_Silent_p.V479V|ABCC1_ENST00000345148.5_Silent_p.V479V|ABCC1_ENST00000349029.5_Silent_p.V479V|ABCC1_ENST00000399408.2_Silent_p.V479V|ABCC1_ENST00000351154.5_Silent_p.V479V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	479	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TGGTGCCCGTCAATGCTGTGA	0.572																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1435-1437)gtC>gtA		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						120.0	124.0	123.0					16																	16146637		2115	4217	6332	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16146637C>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1437C>A	16.37:g.16146637C>A						ABCC1_ENST00000346370.5_Silent_p.V479V|ABCC1_ENST00000345148.5_Silent_p.V479V|ABCC1_ENST00000351154.5_Silent_p.V479V|ABCC1_ENST00000399410.3_Silent_p.V479V|ABCC1_ENST00000349029.5_Silent_p.V479V	p.V479V			P33527	MRP1_HUMAN			11	1612	+			479			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.1437C>A	CCDS42122.1																																																																																				0.572	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		7	52	1	0	0.000157383	1	0.000164796	7	52				
URI1	8725	broad.mit.edu	37	19	30502098	30502098	+	Missense_Mutation	SNP	C	C	G	rs149845017		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:30502098C>G	ENST00000542441.2	+	9	1430	c.1133C>G	c.(1132-1134)tCt>tGt	p.S378C	URI1_ENST00000312051.6_Missense_Mutation_p.S338C|URI1_ENST00000360605.4_Missense_Mutation_p.S360C|URI1_ENST00000392271.1_Missense_Mutation_p.S302C			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	378					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										AGTGGCCACTCTGCCCAGGAG	0.512																																						ENST00000392271.1																			0											c.(904-906)tCt>tGt		URI1, prefoldin-like chaperone		C	CYS/SER,CYS/SER	1,4405	2.1+/-5.4	0,1,2202	71.0	78.0	75.0		1133,1013	1.2	0.0	19	dbSNP_134	75	0,8600		0,0,4300	no	missense,missense	C19orf2	NM_003796.2,NM_134447.1	112,112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	378/536,338/496	30502098	1,13005	2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30502098C>G	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1133C>G	19.37:g.30502098C>G	ENSP00000442436:p.Ser378Cys					URI1_ENST00000360605.4_Missense_Mutation_p.S360C|URI1_ENST00000542441.2_Missense_Mutation_p.S378C|URI1_ENST00000312051.6_Missense_Mutation_p.S338C	p.S302C	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			9	1430	+			378			Poly-Asp.		A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.905C>G	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070367	0.36566	2.27E-4	0.0	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.51325	0.71	6.06	1.16	0.20824	.	0.553831	0.20886	N	0.083905	T	0.40522	0.1120	L	0.36672	1.1	0.09310	N	1	B;B;B	0.16396	0.009;0.017;0.017	B;B;B	0.15870	0.014;0.009;0.014	T	0.42766	-0.9432	10	0.52906	T	0.07	0.0308	18.4802	0.90808	0.0:0.5517:0.4483:0.0	.	338;378;375	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	C	376;302;378;338	ENSP00000442436:S378C	ENSP00000312530:S338C	S	+	2	0	C19orf2	35193938	0.785000	0.28726	0.005000	0.12908	0.747000	0.42532	2.793000	0.47845	0.388000	0.25054	0.650000	0.86243	TCT		0.512	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		12	104	0	0	0	1	0	12	104				
PLAG1	5324	broad.mit.edu	37	8	57079803	57079803	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr8:57079803G>T	ENST00000316981.3	-	5	981	c.502C>A	c.(502-504)Cac>Aac	p.H168N	PLAG1_ENST00000423799.2_Missense_Mutation_p.H86N|PLAG1_ENST00000429357.2_Missense_Mutation_p.H168N	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	168	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GATTTAAGGTGCTCCAGAAGC	0.488			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(502-504)Cac>Aac		pleiomorphic adenoma gene 1							66.0	63.0	64.0					8																	57079803		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079803G>T	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.502C>A	8.37:g.57079803G>T	ENSP00000325546:p.His168Asn					PLAG1_ENST00000429357.2_Missense_Mutation_p.H168N|PLAG1_ENST00000423799.2_Missense_Mutation_p.H86N	p.H168N	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	981	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	168			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.502C>A	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417701	0.62622	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	D;D;D	0.86865	-2.18;-2.18;-2.18	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.96259	0.8780	H	0.97214	3.96	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.97501	1.0060	10	0.87932	D	0	-18.9289	19.5003	0.95091	0.0:0.0:1.0:0.0	.	168	Q6DJT9	PLAG1_HUMAN	N	168;86;168	ENSP00000325546:H168N;ENSP00000404067:H86N;ENSP00000416537:H168N	ENSP00000325546:H168N	H	-	1	0	PLAG1	57242357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.594000	0.87642	0.585000	0.79938	CAC		0.488	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		6	30	1	0	3.59834e-05	1	3.82323e-05	6	30				
C2orf57	165100	broad.mit.edu	37	2	232458247	232458247	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr2:232458247G>C	ENST00000313965.2	+	1	673	c.585G>C	c.(583-585)gaG>gaC	p.E195D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	195										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGCTGAGGAGAAAGCTGAGC	0.582																																						ENST00000313965.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19						c.(583-585)gaG>gaC		chromosome 2 open reading frame 57							111.0	109.0	109.0					2																	232458247		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458247G>C	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.585G>C	2.37:g.232458247G>C	ENSP00000315557:p.Glu195Asp						p.E195D	NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	673	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	195					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.585G>C	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	g	14.55	2.570005	0.45798	.	.	ENSG00000177673	ENST00000313965	T	0.21361	2.01	4.02	3.14	0.36123	.	1.117560	0.07071	N	0.835368	T	0.28101	0.0693	N	0.24115	0.695	0.09310	N	1	D	0.58268	0.982	P	0.60345	0.873	T	0.24297	-1.0164	10	0.51188	T	0.08	-1.5054	7.8752	0.29589	0.1149:0.0:0.8851:0.0	.	195	Q53QW1	CB057_HUMAN	D	195	ENSP00000315557:E195D	ENSP00000315557:E195D	E	+	3	2	C2orf57	232166491	0.003000	0.15002	0.004000	0.12327	0.060000	0.15804	1.380000	0.34351	1.042000	0.40150	0.462000	0.41574	GAG		0.582	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		15	75	0	0	0	1	0	15	75				
NOTCH1	4851	broad.mit.edu	37	9	139412235	139412235	+	Silent	SNP	C	C	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:139412235C>T	ENST00000277541.6	-	8	1485	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	470	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACTCCCCAATCTGGTCCAGGC	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1408-1410)caG>caA		notch 1							56.0	63.0	60.0					9																	139412235		2127	4228	6355	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412235C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1410G>A	9.37:g.139412235C>T		HNSCC(8;0.001)					p.Q470Q	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1485	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	470			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.1410G>A	CCDS43905.1																																																																																				0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	66	0	0	0	1	0	5	66				
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		4	8						4	8	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180374749	180374750	+	Intron	INS	-	-	A			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr5:180374749_180374750insA	ENST00000340184.4	+	4	993				BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000231229.4_Frame_Shift_Ins_p.PK304fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Ins_p.PK304fs|BTNL8_ENST00000511704.1_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCAGGCCCAAAAAAGTAAT	0.48																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(910-912)caafs		butyrophilin-like 8																																				SO:0001627	intron_variant	79908					integral to membrane		g.chr5:180374749_180374750insA	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.787+124->A	5.37:g.180374755_180374755dupA						BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Ins_p.Q304fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron	p.Q304fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1145_1146	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	165			B30.2/SPRY.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Ins	INS	ENST00000340184.4	37	c.911_912insA	CCDS43413.1																																																																																				0.480	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		35	216						35	216	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82584850	82584851	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr7:82584850_82584851insT	ENST00000333891.9	-	5	5755_5756	c.5418_5419insA	c.(5416-5421)aaatcafs	p.S1807fs	PCLO_ENST00000423517.2_Frame_Shift_Ins_p.S1807fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTTCTTTGATTTTTTACTAG	0.396																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5416-5421)aacaaafs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584850_82584851insT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5419dupA	7.37:g.82584856_82584856dupT	ENSP00000334319:p.Ser1807fs					PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NK1806fs	p.NK1806fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	5755_5756	-			1737						Frame_Shift_Ins	INS	ENST00000333891.9	37	c.5418_5419insA	CCDS47630.1																																																																																				0.396	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	116						18	116	---	---	---	---
STOML2	30968	broad.mit.edu	37	9	35101723	35101724	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr9:35101723_35101724delAG	ENST00000356493.5	-	5	489_490	c.427_428delCT	c.(427-429)ctgfs	p.L143fs	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Frame_Shift_Del_p.L143fs	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	143					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GACTTTGTCCAGAGAGAGTTTG	0.505																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(427-429)gfs		stomatin (EPB72)-like 2																																				SO:0001589	frameshift_variant	30968					cytoskeleton	receptor binding	g.chr9:35101723_35101724delAG	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.427_428delCT	9.37:g.35101729_35101730delAG	ENSP00000348886:p.Leu143fs					STOML2_ENST00000452248.2_Frame_Shift_Del_p.L143fs	p.L143fs	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	489_490	-			143					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Frame_Shift_Del	DEL	ENST00000356493.5	37	c.427_428delCT	CCDS6577.1																																																																																				0.505	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		39	206						39	206	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118369144	118369158	+	In_Frame_Del	DEL	CAGCAACTATCACTT	CAGCAACTATCACTT	-			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr11:118369144_118369158delCAGCAACTATCACTT	ENST00000389506.5	+	22	5853_5867	c.5853_5867delCAGCAACTATCACTT	c.(5851-5868)accagcaactatcacttc>acc	p.SNYHF1952del	KMT2A_ENST00000354520.4_In_Frame_Del_p.SNYHF1914del|KMT2A_ENST00000534358.1_In_Frame_Del_p.SNYHF1955del			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1952					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CATCCTGCACCAGCAACTATCACTTCATGTGTTCC	0.437																																						ENST00000534358.1																			0											c.(5860-5877)acc>ac		lysine (K)-specific methyltransferase 2A																																				SO:0001651	inframe_deletion	4297							g.chr11:118369144_118369158delCAGCAACTATCACTT	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5853_5867delCAGCAACTATCACTT	11.37:g.118369144_118369158delCAGCAACTATCACTT	ENSP00000374157:p.Ser1952_Phe1956del					KMT2A_ENST00000354520.4_In_Frame_Del_p.TSNYHF1913del|KMT2A_ENST00000389506.5_In_Frame_Del_p.TSNYHF1951del	p.TSNYHF1954del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					22	5885_5899	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	In_Frame_Del	DEL	ENST00000389506.5	37	c.5862_5876delCAGCAACTATCACTT	CCDS31686.1																																																																																				0.437	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		27	303						27	303	---	---	---	---
GPR135	64582	broad.mit.edu	37	14	59931664	59931682	+	Frame_Shift_Del	DEL	GCCGCCTCCGGGCCTAGCG	GCCGCCTCCGGGCCTAGCG	-			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr14:59931664_59931682delGCCGCCTCCGGGCCTAGCG	ENST00000395116.1	-	1	378_396	c.263_281delCGCTAGGCCCGGAGGCGGC	c.(262-282)ccgctaggcccggaggcggcgfs	p.PLGPEAA88fs		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CAGCAGcggcgccgcctccgggcctagcggccgcctcac	0.758																																						ENST00000395116.1																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(262-282)cgfs		G protein-coupled receptor 135																																				SO:0001589	frameshift_variant	64582					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:59931664_59931682delGCCGCCTCCGGGCCTAGCG	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.263_281delCGCTAGGCCCGGAGGCGGC	14.37:g.59931664_59931682delGCCGCCTCCGGGCCTAGCG	ENSP00000378548:p.Pro88fs						p.PLGPEAA88fs	NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.134)	1	378_396	-			88					Q7Z604|Q86SM3|Q8NH39	Frame_Shift_Del	DEL	ENST00000395116.1	37	c.263_281delCGCTAGGCCCGGAGGCGGC	CCDS9738.1																																																																																				0.758	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	NM_022571		3	5						3	5	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821609	72821610	+	In_Frame_Ins	INS	-	-	CCG			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr16:72821609_72821610insCCG	ENST00000268489.5	-	10	11237_11238	c.10565_10566insCGG	c.(10564-10566)ggc>ggCGGc	p.3522_3522G>GG	ZFHX3_ENST00000397992.5_In_Frame_Ins_p.2608_2608G>GG|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3522	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccgccgccacc	0.698																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10564-10566)ggg>gCGGgg		zinc finger homeobox 3																																				SO:0001652	inframe_insertion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821609_72821610insCCG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10563_10565dupCGG	16.37:g.72821613_72821615dupCCG	ENSP00000268489:p.Gly3527dup					AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Ins_p.2607_2608insA	p.3521_3522insA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11237_11238	-		Ovarian(137;0.13)	3521			Poly-Gly.		D3DWS8|O15101|Q13719	In_Frame_Ins	INS	ENST00000268489.5	37	c.10565_10566insCGG	CCDS10908.1																																																																																				0.698	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		9	49						9	49	---	---	---	---
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs201590817|rs200042883		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.55																																						ENST00000583447.1																			0																																																			100131347							g.chr17:37213527_37213528insTTG																													17.37:g.37213527_37213528insTTG								NR_036551.1						0	141	+									RNA	INS	ENST00000583447.1	37																																																																																						0.550	CTD-2206N4.4-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444106.1			3	4						3	4	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20262849	20262850	+	RNA	INS	-	-	T	rs71340318|rs58259738		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:20262849_20262850insT	ENST00000590606.1	-	0	0				CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA																							TTTCttttttcttttttttttt	0.47																																						ENST00000593655.1																			0																																																			0							g.chr19:20262849_20262850insT																													19.37:g.20262860_20262860dupT						CTC-260E6.6_ENST00000586657.1_RNA								0	337	-									RNA	INS	ENST00000590606.1	37																																																																																						0.470	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			5	4						5	4	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000424032.2_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		4	6						4	6	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5974999	5974999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-5333-01A-01D-2394-08	TCGA-CQ-5333-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e776b7da-dc5f-41f4-88c6-45748de4bfd4	8d9ea53d-9752-4f6b-baaa-afdef0442db3	g.chr20:5974999delA	ENST00000378896.3	+	19	2862	c.2485delA	c.(2485-2487)aaafs	p.K830fs	MCM8_ENST00000378886.2_Frame_Shift_Del_p.K870fs|MCM8_ENST00000265187.4_Frame_Shift_Del_p.K814fs|MCM8_ENST00000378883.1_Frame_Shift_Del_p.K783fs	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	830					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTACCTCTTGAAAAAAGGCCC	0.378																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2485-2487)aafs		minichromosome maintenance complex component 8							76.0	75.0	75.0					20																	5974999		2203	4300	6503	SO:0001589	frameshift_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5974999delA	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2485delA	20.37:g.5974999delA	ENSP00000368174:p.Lys830fs					MCM8_ENST00000378886.2_Frame_Shift_Del_p.K870fs|MCM8_ENST00000265187.4_Frame_Shift_Del_p.K814fs|MCM8_ENST00000378883.1_Frame_Shift_Del_p.K783fs	p.K830fs	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			19	2862	+			830					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Frame_Shift_Del	DEL	ENST00000378896.3	37	c.2485delA	CCDS13094.1																																																																																				0.378	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		14	52						14	52	---	---	---	---
