#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
PPP6R3	55291	broad.mit.edu	37	11	68326128	68326128	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:68326128C>T	ENST00000393800.2	+	8	1080	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	PPP6R3_ENST00000265636.5_Missense_Mutation_p.L276F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000527403.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L276F|PPP6R3_ENST00000393799.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L276F	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	276					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCTGACTTTACTTGAGACACG	0.358																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(826-828)Ctt>Ttt		protein phosphatase 6, regulatory subunit 3							116.0	107.0	110.0					11																	68326128		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68326128C>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.826C>T	11.37:g.68326128C>T	ENSP00000377389:p.Leu276Phe					PPP6R3_ENST00000527403.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L276F|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L276F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.L276F	p.L276F			Q5H9R7	PP6R3_HUMAN			8	1093	+			276					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.826C>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873569	0.51695	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T	0.69561	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.41;-0.41;-0.32;1.0	5.45	5.45	0.79879	.	0.116625	0.64402	D	0.000004	T	0.71074	0.3297	L	0.48986	1.54	0.58432	D	0.999991	P;P;P;P;B;P	0.50617	0.937;0.937;0.681;0.566;0.146;0.927	P;P;P;P;B;P	0.54100	0.654;0.742;0.519;0.521;0.05;0.519	T	0.72646	-0.4230	10	0.66056	D	0.02	.	12.7424	0.57261	0.0:0.9258:0.0:0.0742	.	276;276;276;276;276;276	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	F	276;276;276;276;276;276;276;276;276;7	ENSP00000377388:L276F;ENSP00000377389:L276F;ENSP00000431415:L276F;ENSP00000265637:L276F;ENSP00000433058:L276F;ENSP00000377390:L276F;ENSP00000265636:L276F;ENSP00000437329:L276F;ENSP00000433565:L276F;ENSP00000436209:L7F	ENSP00000265636:L276F	L	+	1	0	PPP6R3	68082704	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	4.288000	0.59007	2.836000	0.97738	0.655000	0.94253	CTT		0.358	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		20	60	0	0	0	1	0	20	60				
SCN7A	6332	broad.mit.edu	37	2	167289081	167289081	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:167289081T>A	ENST00000409855.1	-	15	2465	c.2339A>T	c.(2338-2340)cAt>cTt	p.H780L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	780					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTCATTTACATGGTCCATTGT	0.353																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2338-2340)cAt>cTt		sodium channel, voltage-gated, type VII, alpha subunit							191.0	180.0	183.0					2																	167289081		1840	4090	5930	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167289081T>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2339A>T	2.37:g.167289081T>A	ENSP00000386796:p.His780Leu						p.H780L	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			15	2465	-			780						Missense_Mutation	SNP	ENST00000409855.1	37	c.2339A>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	5.695	0.312795	0.10789	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.83419	-1.72;-1.72	5.51	1.92	0.25849	Sodium ion transport-associated (1);	0.425661	0.21860	N	0.068042	T	0.62295	0.2416	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.47560	-0.9108	10	0.23302	T	0.38	.	6.9708	0.24648	0.0:0.2525:0.0:0.7475	.	780	Q01118	SCN7A_HUMAN	L	780	ENSP00000386796:H780L;ENSP00000413699:H780L	ENSP00000259060:H780L	H	-	2	0	SCN7A	166997327	0.001000	0.12720	0.035000	0.18076	0.809000	0.45718	0.874000	0.28065	0.185000	0.20105	-0.411000	0.06167	CAT		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			41	57	0	0	0	1	0	41	57				
SCLY	51540	broad.mit.edu	37	2	238999914	238999914	+	Intron	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:238999914G>C	ENST00000555827.1	+	8	985				SCLY_ENST00000254663.6_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.E232Q|SCLY_ENST00000409736.2_Missense_Mutation_p.E314Q|SCLY_ENST00000422984.2_Intron|SCLY_ENST00000429612.2_Intron			Q96I15	SCLY_HUMAN	selenocysteine lyase						cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TGGTGAGCTTGAGGAGATGAG	0.478																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000409736.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(940-942)Gag>Cag		selenocysteine lyase							247.0	229.0	235.0					2																	238999914		2203	4300	6503	SO:0001627	intron_variant	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238999914G>C	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.921+19G>C	2.37:g.238999914G>C						SCLY_ENST00000422984.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.E232Q|SCLY_ENST00000555827.1_Intron|SCLY_ENST00000254663.6_Intron|SCLY_ENST00000429612.2_Intron	p.E314Q			Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	8	964	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	0					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.940G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.809|7.809	0.715238|0.715238	0.15306|0.15306	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000373332;ENST00000409736|ENST00000440143	T;T|.	0.36340|.	1.26;1.81|.	2.89|2.89	2.89|2.89	0.33648|0.33648	.|.	.|.	.|.	.|.	.|.	T|T	0.58018|0.58018	0.2093|0.2093	.|.	.|.	.|.	0.45464|0.45464	D|D	0.998432|0.998432	B|.	0.29955|.	0.263|.	B|.	0.25987|.	0.065|.	T|T	0.55328|0.55328	-0.8158|-0.8158	7|4	.|.	.|.	.|.	.|.	9.4853|9.4853	0.38926|0.38926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	314|.	Q96I15-2|.	.|.	Q|F	232;314|55	ENSP00000362429:E232Q;ENSP00000387162:E314Q|.	.|.	E|L	+|+	1|3	0|2	SCLY|SCLY	238664653|238664653	0.015000|0.015000	0.18098|0.18098	0.006000|0.006000	0.13384|0.13384	0.010000|0.010000	0.07245|0.07245	1.667000|1.667000	0.37471|0.37471	1.925000|1.925000	0.55765|0.55765	0.563000|0.563000	0.77884|0.77884	GAG|TTG		0.478	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		22	86	0	0	0	1	0	22	86				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	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	31	0	0	0	1	0	5	31				
BLOC1S1	2647	broad.mit.edu	37	12	56109922	56109922	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:56109922G>A	ENST00000548925.1	+	1	102	c.87G>A	c.(85-87)atG>atA	p.M29I	BLOC1S1_ENST00000547076.1_5'Flank|BLOC1S1_ENST00000257899.2_Start_Codon_SNP_p.M1I|BLOC1S1_ENST00000548556.1_5'Flank|BLOC1S1_ENST00000551926.1_5'Flank|BLOC1S1_ENST00000549147.1_Missense_Mutation_p.M29I|RP11-644F5.10_ENST00000550412.1_Missense_Mutation_p.M29I|RP11-644F5.10_ENST00000549424.1_5'Flank			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	29					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						ACGTGACCATGCTGTCCCGCC	0.657																																					Colon(112;1254 2715 13015)	ENST00000550412.1																			0				endometrium(1)|lung(1)	2						c.(85-87)atG>atA									41.0	40.0	41.0					12																	56109922		2201	4300	6501	SO:0001583	missense	0							g.chr12:56109922G>A	S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"""Biogenesis of lysosomal organelles complex-1 subunits"""	4200	protein-coding gene	gene with protein product	"""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"""	601444	"""GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"""	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.87G>A	12.37:g.56109922G>A	ENSP00000447537:p.Met29Ile					BLOC1S1_ENST00000549147.1_Missense_Mutation_p.M29I|BLOC1S1_ENST00000257899.2_Start_Codon_SNP_p.M1I|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.M29I	p.M29I							1	103	+								A1L4Q9|Q6NZ45	Missense_Mutation	SNP	ENST00000548925.1	37	c.87G>A	CCDS8889.2	.	.	.	.	.	.	.	.	.	.	G	33	5.195110	0.94960	.	.	ENSG00000258311;ENSG00000135441;ENSG00000135441;ENSG00000135441	ENST00000550412;ENST00000257899;ENST00000548925;ENST00000549147	T;T	0.41065	1.01;1.01	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.08118	0	0.80722	D	1	P;P;D	0.63880	0.908;0.655;0.993	B;B;D	0.72982	0.337;0.173;0.979	T	0.55438	-0.8141	10	0.72032	D	0.01	-33.9082	16.4849	0.84182	0.0:0.0:1.0:0.0	.	29;29;29	F8VP73;F8W036;P78537	.;.;BL1S1_HUMAN	I	29;1;29;29	ENSP00000447650:M29I;ENSP00000450328:M29I	ENSP00000257899:M1I	M	+	3	0	RP11-644F5.10;BLOC1S1	54396189	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	8.351000	0.90072	2.835000	0.97688	0.650000	0.86243	ATG		0.657	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406681.1	NM_001487		15	16	0	0	0	1	0	15	16				
TNNT1	7138	broad.mit.edu	37	19	55653236	55653236	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:55653236C>T	ENST00000588981.1	-	7	385	c.181G>A	c.(181-183)Gtt>Att	p.V61I	TNNT1_ENST00000291901.8_Missense_Mutation_p.V61I|TNNT1_ENST00000356783.5_Missense_Mutation_p.V50I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000536926.1_Missense_Mutation_p.V50I|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.V50I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	61					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCGAAGTCAACGCGCTCCCCT	0.602																																						ENST00000588981.1																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(181-183)Gtt>Att		troponin T type 1 (skeletal, slow)							101.0	106.0	104.0					19																	55653236		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55653236C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.181G>A	19.37:g.55653236C>T	ENSP00000467176:p.Val61Ile					TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000536926.1_Missense_Mutation_p.V50I|TNNT1_ENST00000291901.8_Missense_Mutation_p.V61I|TNNT1_ENST00000587758.1_Missense_Mutation_p.V50I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000356783.5_Missense_Mutation_p.V50I|TNNT1_ENST00000587465.2_5'UTR	p.V61I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	7	385	-			61					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.181G>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651441	0.67472	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000429737	D;D;D	0.99060	-5.38;-5.38;-5.38	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	D	0.99055	0.9676	M	0.73598	2.24	0.58432	D	0.999998	D;D;D;D	0.76494	0.997;0.998;0.999;0.999	D;D;D;D	0.78314	0.959;0.986;0.991;0.979	D	0.99157	1.0860	10	0.62326	D	0.03	-36.2816	13.6669	0.62401	0.0:1.0:0.0:0.0	.	61;50;61;61	Q56R94;P13805-2;P13805-3;P13805	.;.;.;TNNT1_HUMAN	I	61;50;50;76	ENSP00000291901:V61I;ENSP00000349233:V50I;ENSP00000439640:V50I	ENSP00000291901:V61I	V	-	1	0	TNNT1	60345048	1.000000	0.71417	0.985000	0.45067	0.333000	0.28666	5.492000	0.66893	1.860000	0.53959	0.462000	0.41574	GTT		0.602	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		23	141	0	0	0	1	0	23	141				
CDH4	1002	broad.mit.edu	37	20	59829994	59829994	+	Splice_Site	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr20:59829994G>T	ENST00000360469.5	+	2	257		c.e2+1			NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)						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)			CTACTTCAAGGTAAGGCGGGG	0.483																																						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.e2+1		cadherin 4, type 1, R-cadherin (retinal)							60.0	67.0	65.0					20																	59829994		2203	4300	6503	SO:0001630	splice_region_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:59829994G>T	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.169+1G>T	20.37:g.59829994G>T								NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		2	257	+								B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Splice_Site	SNP	ENST00000360469.5	37		CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804779	0.50315	.	.	ENSG00000179242	ENST00000360469	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2799	0.87125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH4	59263389	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	5.837000	0.69381	2.515000	0.84797	0.655000	0.94253	.		0.483	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	Intron	34	57	1	0	1.74807e-11	1	1.98644e-11	34	57				
NELFE	7936	broad.mit.edu	37	6	31922417	31922417	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:31922417A>T	ENST00000375429.3	-	7	883	c.657T>A	c.(655-657)gaT>gaA	p.D219E	NELFE_ENST00000444811.2_Missense_Mutation_p.D189E|NELFE_ENST00000375425.5_Missense_Mutation_p.D226E|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	219	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D219>?(1)									cccgatcccgatccctgtccc	0.642																																						ENST00000375429.3																			1	Complex(1)	p.D219>?(1)	large_intestine(1)								c.(655-657)gaT>gaA		negative elongation factor complex member E							39.0	39.0	39.0					6																	31922417		2203	4300	6503	SO:0001583	missense	7936							g.chr6:31922417A>T	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.657T>A	6.37:g.31922417A>T	ENSP00000364578:p.Asp219Glu					NELFE_ENST00000444811.2_Missense_Mutation_p.D189E|NELFE_ENST00000375425.5_Missense_Mutation_p.D226E	p.D219E	NM_002904.5	NP_002895.3					7	883	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.657T>A	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	A	2.555	-0.303102	0.05495	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T;T	0.61627	0.09;0.09;1.27;0.09;3.41;3.41	5.57	-11.1	0.00147	.	0.182059	0.44483	N	0.000458	T	0.08714	0.0216	N	0.25789	0.76	0.23712	N	0.99704	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.26780	-1.0093	10	0.05833	T	0.94	-3.2587	9.0315	0.36262	0.1025:0.1406:0.6172:0.1397	.	189;214;214;219	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	E	219;226;189;214;219;214	ENSP00000364578:D219E;ENSP00000364574:D226E;ENSP00000388400:D189E;ENSP00000397914:D214E;ENSP00000409389:D219E;ENSP00000414029:D214E	ENSP00000364574:D226E	D	-	3	2	RDBP	32030396	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.133000	0.03232	-4.150000	0.00069	-1.936000	0.00505	GAT		0.642	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			15	53	0	0	0	1	0	15	53				
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G	rs201049716		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:72413896A>G	ENST00000434423.2	+	11	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_ENST00000395270.1_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side. {ECO:0000255}.				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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637																																						ENST00000395270.1																			8	Substitution - Missense(8)	p.T857A(8)	lung(4)|kidney(4)	NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2569-2571)Acc>Gcc		POM121 transmembrane nucleoporin							32.0	30.0	30.0					7																	72413896		2201	4299	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413896A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3364A>G	7.37:g.72413896A>G	ENSP00000405562:p.Thr1122Ala					POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A	p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3610	+		Lung NSC(55;0.163)	1122			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2569A>G		56	0.02564102564102564	11	0.022357723577235773	14	0.03867403314917127	19	0.033216783216783216	12	0.0158311345646438	G	2.480	-0.319876	0.05386	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05649	3.46;3.41;3.46;3.41;3.71	2.86	-2.18	0.07037	.	0.720175	0.11383	N	0.569582	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42275	-0.9461	10	0.36615	T	0.2	.	4.8571	0.13564	0.1842:0.0:0.3666:0.4491	.	857;1122	A8MXF9;Q96HA1	.;P121A_HUMAN	A	857;857;857;857;1122	ENSP00000393020:T857A;ENSP00000257622:T857A;ENSP00000378687:T857A;ENSP00000351124:T857A;ENSP00000405562:T1122A	ENSP00000257622:T857A	T	+	1	0	POM121	72051832	0.360000	0.24964	0.406000	0.26421	0.004000	0.04260	0.000000	0.12993	-0.499000	0.06623	-2.511000	0.00188	ACC		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			3	24	0	0	0	1	0	3	24				
CYP4B1	1580	broad.mit.edu	37	1	47284343	47284343	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:47284343G>C	ENST00000271153.4	+	12	1429	c.1393G>C	c.(1393-1395)Gtg>Ctg	p.V465L	CYP4B1_ENST00000371923.4_Missense_Mutation_p.V466L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.V451L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.V303L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	465					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGAGATGAAGGTGGTCACAGC	0.537																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1393-1395)Gtg>Ctg		cytochrome P450, family 4, subfamily B, polypeptide 1							179.0	149.0	160.0					1																	47284343		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47284343G>C	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1393G>C	1.37:g.47284343G>C	ENSP00000271153:p.Val465Leu					CYP4B1_ENST00000371923.4_Missense_Mutation_p.V466L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.V451L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.V303L	p.V465L			P13584	CP4B1_HUMAN			12	1429	+	Acute lymphoblastic leukemia(166;0.155)		465					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1393G>C	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244873	0.95272	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	L	0.49513	1.565	0.58432	D	0.999999	D;D;D	0.60575	0.971;0.985;0.988	P;P;P	0.59357	0.669;0.775;0.856	T	0.69179	-0.5213	9	.	.	.	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	451;466;465	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	L	466;465;451;303	ENSP00000360991:V466L;ENSP00000271153:V465L;ENSP00000360987:V451L;ENSP00000400413:V303L	.	V	+	1	0	CYP4B1	47056930	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.434000	0.97515	2.755000	0.94549	0.655000	0.94253	GTG		0.537	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		56	43	0	0	0	1	0	56	43				
OR4L1	122742	broad.mit.edu	37	14	20528715	20528715	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:20528715A>G	ENST00000315683.1	+	1	512	c.512A>G	c.(511-513)cAc>cGc	p.H171R		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTCTGTGGCCACAATGTCATA	0.398																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(511-513)cAc>cGc		olfactory receptor, family 4, subfamily L, member 1							182.0	167.0	172.0					14																	20528715		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528715A>G		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.512A>G	14.37:g.20528715A>G	ENSP00000319217:p.His171Arg						p.H171R	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	512	+	all_cancers(95;0.00108)		171					Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.512A>G	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	7.912	0.736685	0.15574	.	.	ENSG00000176246	ENST00000315683	T	0.36699	1.24	4.37	0.447	0.16608	GPCR, rhodopsin-like superfamily (1);	0.821904	0.10695	N	0.644745	T	0.31040	0.0784	N	0.17631	0.505	0.09310	N	1	B	0.26318	0.146	B	0.38156	0.266	T	0.49532	-0.8930	10	0.87932	D	0	.	12.29	0.54812	0.3175:0.6825:0.0:0.0	.	171	Q8NH43	OR4L1_HUMAN	R	171	ENSP00000319217:H171R	ENSP00000319217:H171R	H	+	2	0	OR4L1	19598555	0.000000	0.05858	0.809000	0.32408	0.394000	0.30568	0.424000	0.21330	0.318000	0.23185	0.528000	0.53228	CAC		0.398	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			62	66	0	0	0	1	0	62	66				
TAS2R30	259293	broad.mit.edu	37	12	11286045	11286045	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286045T>C	ENST00000539585.1	-	1	1198	c.799A>G	c.(799-801)Att>Gtt	p.I267V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	267					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CTGAATATAATAGCTTGGCAG	0.398																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(799-801)Att>Gtt		taste receptor, type 2, member 30							136.0	145.0	142.0					12																	11286045		2180	4291	6471	SO:0001583	missense	259293							g.chr12:11286045T>C	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.799A>G	12.37:g.11286045T>C	ENSP00000444736:p.Ile267Val					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.I267V	NM_001097643.1	NP_001091112.1					1	1198	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.799A>G	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	1.444	-0.566746	0.03910	.	.	ENSG00000256188	ENST00000539585	T	0.37235	1.21	2.7	-5.4	0.02656	.	.	.	.	.	T	0.18593	0.0446	N	0.17674	0.51	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	T	0.19353	-1.0308	9	0.28530	T	0.3	.	6.9895	0.24748	0.0:0.1256:0.2429:0.6314	.	267	P59541	T2R30_HUMAN	V	267	ENSP00000444736:I267V	ENSP00000444736:I267V	I	-	1	0	TAS2R30	11177312	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.353000	0.02617	-1.898000	0.01100	-0.908000	0.02827	ATT		0.398	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		97	58	0	0	0	1	0	97	58				
COL11A1	1301	broad.mit.edu	37	1	103470202	103470202	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:103470202G>T	ENST00000370096.3	-	19	2173	c.1861C>A	c.(1861-1863)Caa>Aaa	p.Q621K	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q505K|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q582K|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.Q633K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	621	Collagen-like 3.|Collagen-like 4.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGAGGACCTTGAGGACCTCGT	0.323																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1897-1899)Caa>Aaa		collagen, type XI, alpha 1							39.0	36.0	37.0					1																	103470202		2202	4300	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103470202G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1861C>A	1.37:g.103470202G>T	ENSP00000359114:p.Gln621Lys					COL11A1_ENST00000353414.4_Missense_Mutation_p.Q582K|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q621K|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q505K	p.Q633K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	19	2214	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	621			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1897C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	6.383	0.438712	0.12104	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.83	5.83	0.93111	.	0.372676	0.31071	N	0.008314	D	0.82467	0.5043	L	0.34521	1.04	0.38512	D	0.948492	B;B;B;B	0.32467	0.08;0.11;0.372;0.285	B;B;B;B	0.28011	0.043;0.035;0.051;0.085	T	0.83037	-0.0159	10	0.05833	T	0.94	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	505;582;633;621	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	K	621;633;582;505	ENSP00000359114:Q621K;ENSP00000351163:Q633K;ENSP00000302551:Q582K;ENSP00000426533:Q505K	ENSP00000302551:Q582K	Q	-	1	0	COL11A1	103242790	1.000000	0.71417	0.992000	0.48379	0.948000	0.59901	4.144000	0.58057	2.756000	0.94617	0.655000	0.94253	CAA		0.323	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	13	1	0	0.184627	1	0.186492	4	13				
CDKL5	6792	broad.mit.edu	37	X	18622158	18622158	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:18622158G>A	ENST00000379989.3	+	13	1399	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	CDKL5_ENST00000379996.3_Missense_Mutation_p.A372T|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	372					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGGAAACCTTGCTGGAGCTAG	0.522																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1114-1116)Gct>Act		cyclin-dependent kinase-like 5							158.0	153.0	154.0					X																	18622158		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622158G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1114G>A	X.37:g.18622158G>A	ENSP00000369325:p.Ala372Thr					CDKL5_ENST00000379996.3_Missense_Mutation_p.A372T|CDKL5_ENST00000463994.1_3'UTR	p.A372T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			13	1399	+	Hepatocellular(33;0.183)		372					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1114G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435492	0.25813	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.69806	-0.43;-0.43	6.06	4.17	0.49024	.	0.246034	0.49305	D	0.000157	T	0.38214	0.1032	N	0.03608	-0.345	0.26873	N	0.967705	B	0.22346	0.068	B	0.13407	0.009	T	0.15009	-1.0452	10	0.33940	T	0.23	-18.6651	7.7587	0.28940	0.0:0.4007:0.356:0.2432	.	372	O76039	CDKL5_HUMAN	T	372	ENSP00000369332:A372T;ENSP00000369325:A372T	ENSP00000369325:A372T	A	+	1	0	CDKL5	18532079	0.793000	0.28825	1.000000	0.80357	0.922000	0.55478	0.797000	0.26999	2.560000	0.86352	0.600000	0.82982	GCT		0.522	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		44	168	0	0	0	1	0	44	168				
NFX1	4799	broad.mit.edu	37	9	33295250	33295250	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:33295250C>T	ENST00000379540.3	+	2	920	c.858C>T	c.(856-858)ctC>ctT	p.L286L	NFX1_ENST00000318524.6_Silent_p.L286L|NFX1_ENST00000379521.4_Silent_p.L286L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	286					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGGATGACCTCAATGAAAGAC	0.512																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(856-858)ctC>ctT		nuclear transcription factor, X-box binding 1							138.0	121.0	127.0					9																	33295250		2203	4300	6503	SO:0001819	synonymous_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33295250C>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.858C>T	9.37:g.33295250C>T						NFX1_ENST00000379521.4_Silent_p.L286L|NFX1_ENST00000318524.6_Silent_p.L286L	p.L286L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	2	920	+			286					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Silent	SNP	ENST00000379540.3	37	c.858C>T	CCDS6538.1																																																																																				0.512	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			26	17	0	0	0	1	0	26	17				
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln					FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q	p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			9	32	0	0	0	1	0	9	32				
GABRR2	2570	broad.mit.edu	37	6	90024791	90024791	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:90024791C>A	ENST00000402938.3	-	1	227	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L	GABRR2_ENST00000602399.1_Missense_Mutation_p.V57L|GABRR2_ENST00000602808.1_5'UTR	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	32					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGCATTTCCACCTGCCCTGTC	0.507																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(94-96)Gtg>Ttg		gamma-aminobutyric acid (GABA) A receptor, rho 2							236.0	229.0	231.0					6																	90024791		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:90024791C>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.94G>T	6.37:g.90024791C>A	ENSP00000386029:p.Val32Leu					GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.V57L	p.V32L			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	1	227	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	57					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.94G>T	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.953144	0.00470	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.52	3.74	0.42951	.	0.408118	0.22565	N	0.058412	T	0.03564	0.0102	N	0.01048	-1.04	0.29182	N	0.876407	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	8	.	.	.	.	10.5357	0.45002	0.0:0.3143:0.5527:0.133	.	57	P28476	GBRR2_HUMAN	L	57	.	.	V	-	1	0	GABRR2	90081510	1.000000	0.71417	0.998000	0.56505	0.104000	0.19210	1.176000	0.31957	0.673000	0.31224	-0.955000	0.02649	GTG		0.507	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			10	215	1	0	1.58986e-06	1	1.70953e-06	10	215				
LSAMP	4045	broad.mit.edu	37	3	115805175	115805175	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:115805175T>C	ENST00000490035.2	-	2	883	c.384A>G	c.(382-384)gtA>gtG	p.V128V	LSAMP_ENST00000539563.1_Silent_p.V125V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	128					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCTTACCTTGTACGATCAAGT	0.438																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(382-384)gtA>gtG		limbic system-associated membrane protein							76.0	70.0	72.0					3																	115805175		2203	4300	6503	SO:0001819	synonymous_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805175T>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.384A>G	3.37:g.115805175T>C						LSAMP_ENST00000539563.1_Silent_p.V125V	p.V128V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	883	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	128					Q8IV49	Silent	SNP	ENST00000490035.2	37	c.384A>G	CCDS2982.1																																																																																				0.438	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		10	45	0	0	0	1	0	10	45				
YARS	8565	broad.mit.edu	37	1	33245110	33245110	+	Missense_Mutation	SNP	C	C	T	rs147005844	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:33245110C>T	ENST00000373477.4	-	12	2257	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	450	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.R450H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCAACCTGGCGGTTTATCCC	0.557																																						ENST00000373477.4																			1	Substitution - Missense(1)	p.R450H(1)	urinary_tract(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1348-1350)cGc>cAc		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	62.0	61.0	61.0		1349	5.7	1.0	1	dbSNP_134	61	0,8600		0,0,4300	no	missense	YARS	NM_003680.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	450/529	33245110	2,13004	2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245110C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1349G>A	1.37:g.33245110C>T	ENSP00000362576:p.Arg450His					YARS_ENST00000469100.1_5'UTR	p.R450H	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			12	2257	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	450			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1349G>A	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644507	0.87859	4.54E-4	0.0	ENSG00000134684	ENST00000373477	T	0.72725	-0.68	5.65	5.65	0.86999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.042460	0.85682	D	0.000000	T	0.78811	0.4342	L	0.60455	1.87	0.58432	D	0.999994	D	0.67145	0.996	P	0.61533	0.89	T	0.78640	-0.2125	10	0.52906	T	0.07	-10.8233	13.3464	0.60575	0.0:0.928:0.0:0.072	.	450	P54577	SYYC_HUMAN	H	450	ENSP00000362576:R450H	ENSP00000362576:R450H	R	-	2	0	YARS	33017697	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.091000	0.50199	2.835000	0.97688	0.650000	0.86243	CGC		0.557	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		19	29	0	0	0	1	0	19	29				
ZC3H7B	23264	broad.mit.edu	37	22	41739574	41739574	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:41739574T>A	ENST00000352645.4	+	13	1710	c.1453T>A	c.(1453-1455)Tgc>Agc	p.C485S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C485S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	501					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTACTACCTGTGCAAAGGTGG	0.677																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1453-1455)Tgc>Agc		zinc finger CCCH-type containing 7B							14.0	16.0	15.0					22																	41739574		2202	4296	6498	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41739574T>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1453T>A	22.37:g.41739574T>A	ENSP00000345793:p.Cys485Ser					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C485S	p.C485S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			13	1710	+			501					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1453T>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	T	32	5.150152	0.94645	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.20332	2.08;2.08	5.58	5.58	0.84498	.	0.043031	0.85682	D	0.000000	T	0.43897	0.1268	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.36601	-0.9741	10	0.87932	D	0	-27.9018	15.745	0.77932	0.0:0.0:0.0:1.0	.	485	Q9UGR2-2	.	S	485	ENSP00000345793:C485S;ENSP00000263243:C485S	ENSP00000263243:C485S	C	+	1	0	ZC3H7B	40069520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.978000	0.88095	2.132000	0.65825	0.402000	0.26972	TGC		0.677	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		11	12	0	0	0	1	0	11	12				
SCPEP1	59342	broad.mit.edu	37	17	55062742	55062742	+	Missense_Mutation	SNP	G	G	T	rs201362915		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:55062742G>T	ENST00000262288.3	+	3	284	c.229G>T	c.(229-231)Ggt>Tgt	p.G77C	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	77					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.G77S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCCATAGGGCGGTCCAGGCGG	0.423																																						ENST00000262288.3																			1	Substitution - Missense(1)	p.G77S(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14						c.(229-231)Ggt>Tgt		serine carboxypeptidase 1							88.0	83.0	84.0					17																	55062742		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55062742G>T	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.229G>T	17.37:g.55062742G>T	ENSP00000262288:p.Gly77Cys					SCPEP1_ENST00000571898.1_3'UTR	p.G77C	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN			3	284	+	Breast(9;2.86e-08)		77					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.229G>T	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519208	0.64634	.	.	ENSG00000121064	ENST00000262288	D	0.92249	-3.0	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98492	1.0610	10	0.87932	D	0	-21.411	19.59	0.95506	0.0:0.0:1.0:0.0	.	77	Q9HB40	RISC_HUMAN	C	77	ENSP00000262288:G77C	ENSP00000262288:G77C	G	+	1	0	SCPEP1	52417741	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	9.080000	0.94040	2.639000	0.89480	0.655000	0.94253	GGT		0.423	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		17	51	1	0	5.01169e-05	1	5.27547e-05	17	51				
WDR19	57728	broad.mit.edu	37	4	39230233	39230233	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:39230233T>C	ENST00000399820.3	+	17	2059	c.1905T>C	c.(1903-1905)caT>caC	p.H635H	WDR19_ENST00000288634.7_Silent_p.H475H|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	635					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTAGCACCCATGGCTTTCTCA	0.428																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1903-1905)caT>caC		WD repeat domain 19							150.0	142.0	145.0					4																	39230233		1905	4113	6018	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39230233T>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1905T>C	4.37:g.39230233T>C						WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.H475H	p.H635H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			17	2059	+			635					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.1905T>C	CCDS47042.1																																																																																				0.428	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			46	44	0	0	0	1	0	46	44				
ADAM22	53616	broad.mit.edu	37	7	87780297	87780297	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:87780297G>A	ENST00000265727.7	+	19	1647	c.1568G>A	c.(1567-1569)tGt>tAt	p.C523Y	ADAM22_ENST00000398201.4_Splice_Site_p.C523Y|ADAM22_ENST00000398209.3_Splice_Site_p.C523Y|ADAM22_ENST00000315984.7_Splice_Site_p.C523Y|ADAM22_ENST00000398204.4_Splice_Site_p.C523Y			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	523	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTCCTAGTGTGCCCCTAAT	0.328																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.e19-1		ADAM metallopeptidase domain 22							188.0	174.0	178.0					7																	87780297		1838	4081	5919	SO:0001630	splice_region_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87780297G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1567-1G>A	7.37:g.87780297G>A						ADAM22_ENST00000398201.4_Splice_Site_p.C523_splice|ADAM22_ENST00000265727.7_Splice_Site_p.C523_splice|ADAM22_ENST00000398209.3_Splice_Site_p.C523_splice|ADAM22_ENST00000315984.7_Splice_Site_p.C523_splice	p.C523_splice	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		19	1891	+	Esophageal squamous(14;0.00202)		523			Disintegrin.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Splice_Site	SNP	ENST00000265727.7	37	c.1566_splice	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308189	0.81247	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	4.95	4.95	0.65309	Blood coagulation inhibitor, Disintegrin (6);	0.000000	0.85682	D	0.000000	D	0.91150	0.7213	H	0.99156	4.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94971	0.8117	10	0.87932	D	0	.	17.3004	0.87181	0.0:0.0:1.0:0.0	.	575;523;523;523	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Y	523;523;523;523;523;490	ENSP00000381262:C523Y;ENSP00000381260:C523Y;ENSP00000265727:C523Y;ENSP00000315900:C523Y;ENSP00000381267:C523Y;ENSP00000381261:C490Y	ENSP00000265727:C523Y	C	+	2	0	ADAM22	87618233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.526000	0.90588	2.414000	0.81942	0.655000	0.94253	TGT		0.328	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	Missense_Mutation	25	15	0	0	0	1	0	25	15				
ZNF418	147686	broad.mit.edu	37	19	58438844	58438844	+	Silent	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:58438844A>G	ENST00000396147.1	-	4	996	c.705T>C	c.(703-705)tgT>tgC	p.C235C	ZNF418_ENST00000595830.1_Silent_p.C235C|ZNF418_ENST00000599852.1_Silent_p.C150C|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Silent_p.C256C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGGATTTCCCACATTCCCAGC	0.403																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(703-705)tgT>tgC		zinc finger protein 418							79.0	77.0	77.0					19																	58438844		2132	4267	6399	SO:0001819	synonymous_variant	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438844A>G	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.705T>C	19.37:g.58438844A>G						ZNF418_ENST00000599852.1_Silent_p.C150C|ZNF418_ENST00000595830.1_Silent_p.C235C|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.C256C	p.C235C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	996	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	235					Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	c.705T>C	CCDS42642.1																																																																																				0.403	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		11	55	0	0	0	1	0	11	55				
OR5V1	81696	broad.mit.edu	37	6	29323301	29323301	+	Silent	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:29323301G>T	ENST00000377154.1	-	4	971	c.672C>A	c.(670-672)acC>acA	p.T224T	OR5V1_ENST00000543825.1_Silent_p.T224T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTCAAGATGGTGGAGATTA	0.468																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(670-672)acC>acA		olfactory receptor, family 5, subfamily V, member 1							94.0	84.0	87.0					6																	29323301		2203	4300	6503	SO:0001819	synonymous_variant	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323301G>T		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.672C>A	6.37:g.29323301G>T						OR5V1_ENST00000543825.1_Silent_p.T224T	p.T224T			Q9UGF6	OR5V1_HUMAN			4	971	-			224					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	ENST00000377154.1	37	c.672C>A	CCDS4657.1																																																																																				0.468	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			29	163	1	0	1.16021e-09	1	1.28912e-09	29	163				
GRM3	2913	broad.mit.edu	37	7	86416020	86416020	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:86416020C>T	ENST00000361669.2	+	3	2011	c.912C>T	c.(910-912)ggC>ggT	p.G304G	GRM3_ENST00000439827.1_Silent_p.G304G|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.G176G|GRM3_ENST00000394720.2_Silent_p.G302G|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	304					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACGGCTGGGGCGCGCAGGAGA	0.677																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(910-912)ggC>ggT		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						33.0	36.0	35.0					7																	86416020		2203	4299	6502	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86416020C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.912C>T	7.37:g.86416020C>T						GRM3_ENST00000394720.2_Silent_p.G302G|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.G304G|GRM3_ENST00000536043.1_Silent_p.G176G	p.G304G	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	2011	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		304					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.912C>T	CCDS5600.1																																																																																				0.677	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			19	49	0	0	0	1	0	19	49				
A2ML1	144568	broad.mit.edu	37	12	8995770	8995770	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:8995770A>C	ENST00000299698.7	+	12	1469	c.1289A>C	c.(1288-1290)cAa>cCa	p.Q430P	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AATCCGGAACAAGTGCCACGT	0.483																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(1288-1290)cAa>cCa		alpha-2-macroglobulin-like 1							99.0	100.0	100.0					12																	8995770		1972	4150	6122	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8995770A>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1289A>C	12.37:g.8995770A>C	ENSP00000299698:p.Gln430Pro						p.Q430P	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			12	1469	+			274						Missense_Mutation	SNP	ENST00000299698.7	37	c.1289A>C	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	5.934	0.356362	0.11239	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.32753	1.44	4.24	0.169	0.15017	.	0.754309	0.11361	N	0.571934	T	0.20700	0.0498	L	0.36672	1.1	0.09310	N	1	B	0.30542	0.284	B	0.30179	0.112	T	0.21143	-1.0254	10	0.33940	T	0.23	.	5.8823	0.18862	0.563:0.1434:0.0:0.2936	.	430	A8K2U0	A2ML1_HUMAN	P	430	ENSP00000299698:Q430P	ENSP00000299698:Q430P	Q	+	2	0	A2ML1	8887037	0.000000	0.05858	0.000000	0.03702	0.617000	0.37484	-0.176000	0.09811	0.022000	0.15160	0.459000	0.35465	CAA		0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		54	45	0	0	0	1	0	54	45				
MDGA2	161357	broad.mit.edu	37	14	47324352	47324352	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:47324352A>C	ENST00000399232.2	-	15	2915	c.2551T>G	c.(2551-2553)Tta>Gta	p.L851V	MDGA2_ENST00000439988.3_Missense_Mutation_p.L920V|MDGA2_ENST00000426342.1_Missense_Mutation_p.L622V|MDGA2_ENST00000357362.3_Missense_Mutation_p.L622V|MDGA2_ENST00000399222.3_Missense_Mutation_p.L53V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	851	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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						TAAACATTTAAGACACCTAAA	0.308																																						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.(1864-1866)Tta>Gta		MAM domain containing glycosylphosphatidylinositol anchor 2							92.0	84.0	87.0					14																	47324352		1800	4058	5858	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47324352A>C	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.2551T>G	14.37:g.47324352A>C	ENSP00000382178:p.Leu851Val					MDGA2_ENST00000357362.3_Missense_Mutation_p.L622V|MDGA2_ENST00000439988.2_Missense_Mutation_p.L851V|MDGA2_ENST00000399222.3_Missense_Mutation_p.L53V|MDGA2_ENST00000399232.2_Missense_Mutation_p.L920V	p.L622V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			15	2610	-			851			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1864T>G		.	.	.	.	.	.	.	.	.	.	A	15.29	2.788457	0.49997	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	4.49	3.34	0.38264	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.218062	0.22284	U	0.062097	T	0.20210	0.0486	M	0.86953	2.85	0.48901	D	0.999726	P	0.41366	0.747	P	0.47786	0.557	T	0.00569	-1.1666	10	0.62326	D	0.03	.	8.2822	0.31906	0.9018:0.0:0.0982:0.0	.	851	Q7Z553	MDGA2_HUMAN	V	851;622;920;53;622	ENSP00000400011:L851V;ENSP00000405456:L622V;ENSP00000382178:L920V;ENSP00000382168:L53V;ENSP00000349925:L622V	ENSP00000349925:L622V	L	-	1	2	MDGA2	46394102	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	2.953000	0.49105	0.679000	0.31345	0.455000	0.32223	TTA		0.308	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		5	23	0	0	0	1	0	5	23				
CEACAM20	125931	broad.mit.edu	37	19	45024554	45024554	+	RNA	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:45024554G>C	ENST00000454753.1	-	0	1262							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCTGCCCCAGTTCCAGACCT	0.617																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							48.0	48.0	48.0					19																	45024554		1910	4125	6035			125931					integral to membrane		g.chr19:45024554G>C	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45024554G>C										Q6UY09	CEA20_HUMAN			0	1262	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.617	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		26	22	0	0	0	1	0	26	22				
BRD3	8019	broad.mit.edu	37	9	136915512	136915512	+	Missense_Mutation	SNP	G	G	T	rs200384607		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:136915512G>T	ENST00000303407.7	-	5	883	c.698C>A	c.(697-699)aCg>aAg	p.T233K	BRD3_ENST00000357885.2_Missense_Mutation_p.T233K|BRD3_ENST00000371834.2_Missense_Mutation_p.T233K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	233					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GACAGGCGGCGTAGGAGGGAC	0.692			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(697-699)aCg>aAg		bromodomain containing 3							56.0	57.0	57.0					9																	136915512		2203	4299	6502	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136915512G>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.698C>A	9.37:g.136915512G>T	ENSP00000305918:p.Thr233Lys					BRD3_ENST00000357885.2_Missense_Mutation_p.T233K|BRD3_ENST00000371834.2_Missense_Mutation_p.T233K	p.T233K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	883	-			233					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.698C>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.901112	0.33535	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.59906	0.23;0.23;0.23	4.88	4.88	0.63580	.	0.150982	0.46145	D	0.000310	T	0.50803	0.1637	M	0.66297	2.02	0.44908	D	0.99792	B;B	0.32160	0.023;0.358	B;B	0.26770	0.017;0.073	T	0.54357	-0.8306	10	0.02654	T	1	-19.3921	17.3626	0.87355	0.0:0.0:1.0:0.0	.	233;233	Q15059-2;Q15059	.;BRD3_HUMAN	K	233	ENSP00000305918:T233K;ENSP00000360900:T233K;ENSP00000350557:T233K	ENSP00000305918:T233K	T	-	2	0	BRD3	135905333	1.000000	0.71417	0.887000	0.34795	0.123000	0.20343	7.622000	0.83099	2.404000	0.81709	0.491000	0.48974	ACG		0.692	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		57	2	1	0	1.74971e-23	1	2.10809e-23	57	2				
CACNB4	785	broad.mit.edu	37	2	152711818	152711818	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:152711818C>A	ENST00000539935.1	-	11	1007	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	CACNB4_ENST00000534999.1_Missense_Mutation_p.D280Y|CACNB4_ENST00000360283.6_Missense_Mutation_p.D281Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.D267Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.D296Y|CACNB4_ENST00000201943.5_Missense_Mutation_p.D314Y	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	314					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGATGGTGTCTGCATCAAGA	0.373																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(841-843)Gac>Tac		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						127.0	124.0	125.0					2																	152711818		1886	4125	6011	SO:0001583	missense	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152711818C>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.940G>T	2.37:g.152711818C>A	ENSP00000438949:p.Asp314Tyr					CACNB4_ENST00000201943.5_Missense_Mutation_p.D314Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.D267Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.D314Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.D280Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.D296Y	p.D281Y			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	10	1098	-			314					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.841G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822586	0.90873	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.99	5.99	0.97316	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.80390	-0.1402	10	0.72032	D	0.01	-19.2441	20.4777	0.99188	0.0:1.0:0.0:0.0	.	314;314;296;280	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	Y	314;281;271;309;280;267;296;314;315	ENSP00000438949:D314Y;ENSP00000353425:D281Y;ENSP00000390161:D309Y;ENSP00000443893:D280Y;ENSP00000380490:D267Y;ENSP00000410978:D296Y;ENSP00000201943:D314Y	ENSP00000201943:D314Y	D	-	1	0	CACNB4	152420064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAC		0.373	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		5	33	1	0	1.23904e-05	1	1.31813e-05	5	33				
PUS7L	83448	broad.mit.edu	37	12	44148360	44148360	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:44148360T>G	ENST00000416848.2	-	2	1177	c.689A>C	c.(688-690)aAa>aCa	p.K230T	PUS7L_ENST00000344862.5_Missense_Mutation_p.K230T|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.K230T|PUS7L_ENST00000553166.1_Missense_Mutation_p.K230T	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	230					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAAGGTAAATTTGGAATTTTC	0.308																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(688-690)aAa>aCa		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							78.0	78.0	78.0					12																	44148360		2203	4299	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148360T>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.689A>C	12.37:g.44148360T>G	ENSP00000415899:p.Lys230Thr					PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.K230T|PUS7L_ENST00000551923.1_Missense_Mutation_p.K230T|PUS7L_ENST00000553166.1_Missense_Mutation_p.K230T	p.K230T	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1177	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	230					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.689A>C	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	3.494	-0.103163	0.06967	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24151	1.9;1.9;1.9;1.87	5.35	-1.29	0.09288	Pseudouridine synthase, catalytic domain (1);	0.578483	0.19983	N	0.101731	T	0.09379	0.0231	N	0.08118	0	0.47037	D	0.999291	B	0.06786	0.001	B	0.04013	0.001	T	0.28396	-1.0045	10	0.15066	T	0.55	-12.1335	6.6428	0.22919	0.0:0.3374:0.2435:0.4191	.	230	Q9H0K6	PUS7L_HUMAN	T	230	ENSP00000415899:K230T;ENSP00000343081:K230T;ENSP00000447706:K230T;ENSP00000446865:K230T	ENSP00000343081:K230T	K	-	2	0	PUS7L	42434627	0.137000	0.22531	0.937000	0.37676	0.965000	0.64279	0.452000	0.21795	-0.275000	0.09219	-0.256000	0.11100	AAA		0.308	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		6	40	0	0	0	1	0	6	40				
TMEM130	222865	broad.mit.edu	37	7	98457843	98457843	+	Silent	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:98457843G>C	ENST00000416379.2	-	3	514	c.510C>G	c.(508-510)ctC>ctG	p.L170L	TMEM130_ENST00000450876.1_Silent_p.L86L|TMEM130_ENST00000546258.1_Silent_p.L151L|TMEM130_ENST00000339375.4_Silent_p.L170L|TMEM130_ENST00000345589.4_Silent_p.L68L			Q8N3G9	TM130_HUMAN	transmembrane protein 130	170	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCGGTCTTGAGGAAGTTGC	0.592																																						ENST00000450876.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(256-258)ctC>ctG		transmembrane protein 130							109.0	94.0	99.0					7																	98457843		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98457843G>C		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.510C>G	7.37:g.98457843G>C						TMEM130_ENST00000339375.4_Silent_p.L170L|TMEM130_ENST00000345589.4_Silent_p.L68L|TMEM130_ENST00000546258.1_Silent_p.L151L|TMEM130_ENST00000416379.2_Silent_p.L170L	p.L86L			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1573	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		170					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.258C>G	CCDS47650.1																																																																																				0.592	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		14	29	0	0	0	1	0	14	29				
RILPL1	353116	broad.mit.edu	37	12	124008056	124008056	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:124008056A>T	ENST00000376874.4	-	2	681	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	149					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		ATGCTTCTGGAACTCCTCCTC	0.577																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(445-447)tTc>tAc		Rab interacting lysosomal protein-like 1							89.0	93.0	92.0					12																	124008056		2071	4200	6271	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:124008056A>T	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.446T>A	12.37:g.124008056A>T	ENSP00000366070:p.Phe149Tyr						p.F149Y	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	2	681	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		149					Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.446T>A	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	A	1.891	-0.455358	0.04540	.	.	ENSG00000188026	ENST00000376874	T	0.44083	0.93	5.01	5.01	0.66863	JNK/Rab-associated protein-1, N-terminal (1);	0.080268	0.51477	D	0.000096	T	0.23572	0.0570	N	0.22421	0.69	0.80722	D	1	P;B	0.38420	0.63;0.065	B;B	0.31495	0.131;0.06	T	0.12785	-1.0534	10	0.02654	T	1	-4.3975	15.0613	0.71955	1.0:0.0:0.0:0.0	.	125;149	Q5EBL4-2;Q5EBL4	.;RIPL1_HUMAN	Y	149	ENSP00000366070:F149Y	ENSP00000366070:F149Y	F	-	2	0	RILPL1	122574009	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	5.781000	0.68964	2.015000	0.59207	0.533000	0.62120	TTC		0.577	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		22	79	0	0	0	1	0	22	79				
CSRNP1	64651	broad.mit.edu	37	3	39185088	39185088	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:39185088C>G	ENST00000273153.5	-	5	1405	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E410Q	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	410					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTCCCTTCCTCCTCTTCCTCC	0.602																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(1228-1230)Gag>Cag		cysteine-serine-rich nuclear protein 1							58.0	60.0	59.0					3																	39185088		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39185088C>G	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1228G>C	3.37:g.39185088C>G	ENSP00000273153:p.Glu410Gln					CSRNP1_ENST00000514182.1_Missense_Mutation_p.E410Q	p.E410Q	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN			5	1405	-			410					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.1228G>C	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499960	0.26861	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.47528	0.84;0.84	4.43	3.55	0.40652	.	0.937419	0.09006	N	0.862297	T	0.46600	0.1401	L	0.39633	1.23	0.33615	D	0.604011	P	0.43701	0.815	P	0.45681	0.49	T	0.50759	-0.8790	10	0.30854	T	0.27	-9.1847	12.4044	0.55430	0.0:0.918:0.0:0.082	.	410	Q96S65	CSRN1_HUMAN	Q	410;410;68	ENSP00000273153:E410Q;ENSP00000422532:E410Q	ENSP00000273153:E410Q	E	-	1	0	CSRNP1	39160092	0.004000	0.15560	0.539000	0.28077	0.478000	0.33099	0.327000	0.19663	1.224000	0.43551	0.591000	0.81541	GAG		0.602	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		11	49	0	0	0	1	0	11	49				
FNDC1	84624	broad.mit.edu	37	6	159642727	159642727	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:159642727A>T	ENST00000297267.9	+	6	965	c.765A>T	c.(763-765)tcA>tcT	p.S255S	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Splice_Site_p.S255S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	255	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAAGATTTCAGGTATGTTTC	0.453																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.e6+1		fibronectin type III domain containing 1							96.0	105.0	102.0					6																	159642727		1950	4144	6094	SO:0001630	splice_region_variant	84624					extracellular region		g.chr6:159642727A>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.766+1A>T	6.37:g.159642727A>T						FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Splice_Site_p.S255_splice	p.S255_splice	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	6	965	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	255					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Splice_Site	SNP	ENST00000297267.9	37	c.766_splice	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.345850	0.61073	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.551	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	X	214	.	.	R	+	1	2	FNDC1	159562715	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.693000	0.84214	2.371000	0.80710	0.533000	0.62120	AGA		0.453	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	Silent	3	33	0	0	0	1	0	3	33				
HUWE1	10075	broad.mit.edu	37	X	53611281	53611281	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:53611281G>A	ENST00000342160.3	-	40	5483	c.5026C>T	c.(5026-5028)Cgc>Tgc	p.R1676C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1676C|HUWE1_ENST00000218328.8_Intron			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1676	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCACAGGGCGTCGGTTCCCT	0.438																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(5026-5028)Cgc>Tgc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							103.0	86.0	91.0					X																	53611281		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53611281G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5026C>T	X.37:g.53611281G>A	ENSP00000340648:p.Arg1676Cys					HUWE1_ENST00000218328.8_Intron|HUWE1_ENST00000262854.6_Missense_Mutation_p.R1676C	p.R1676C			Q7Z6Z7	HUWE1_HUMAN			40	5483	-			1676			WWE.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.5026C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291299|3.291299	0.59976|0.59976	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.60040|.	0.22;0.22|.	5.47|5.47	5.47|5.47	0.80525|0.80525	WWE domain (2);|.	0.151845|.	0.42548|.	D|.	0.000684|.	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.994|.	T|T	0.80437|0.80437	-0.1383|-0.1383	10|5	0.87932|.	D|.	0|.	.|.	17.0022|17.0022	0.86384|0.86384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1676;1676|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	C|M	1676|709	ENSP00000340648:R1676C;ENSP00000262854:R1676C|.	ENSP00000262854:R1676C|.	R|T	-|-	1|2	0|0	HUWE1|HUWE1	53628006|53628006	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.950000|0.950000	0.60333|0.60333	5.155000|5.155000	0.64900|0.64900	2.277000|2.277000	0.76020|0.76020	0.513000|0.513000	0.50165|0.50165	CGC|ACG		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	52	0	0	0	1	0	5	52				
FAT2	2196	broad.mit.edu	37	5	150889670	150889670	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:150889670T>G	ENST00000261800.5	-	21	11983	c.11971A>C	c.(11971-11973)Act>Cct	p.T3991P	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3991	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGCAAAAGTACAGTTCTCC	0.522																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11971-11973)Act>Cct		FAT atypical cadherin 2							157.0	155.0	156.0					5																	150889670		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150889670T>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11971A>C	5.37:g.150889670T>G	ENSP00000261800:p.Thr3991Pro					CTC-251D13.1_ENST00000606930.1_RNA	p.T3991P	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	11983	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3991			EGF-like 2.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11971A>C	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.321|7.321	0.617032|0.617032	0.14129|0.14129	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	D|.	0.91792|.	-2.91|.	5.54|5.54	2.73|2.73	0.32206|0.32206	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.335125|.	0.25771|.	N|.	0.028414|.	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.26092|0.26092	0.79|0.79	0.20638|0.20638	N|N	0.999873|0.999873	B;B|.	0.31730|.	0.337;0.337|.	B;B|.	0.31614|.	0.133;0.099|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.31617|.	T|.	0.26|.	.|.	4.4701|4.4701	0.11708|0.11708	0.1801:0.1373:0.0:0.6826|0.1801:0.1373:0.0:0.6826	.|.	3991;1096|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	P|S	3991|763	ENSP00000261800:T3991P|.	ENSP00000261800:T3991P|.	T|Y	-|-	1|2	0|0	FAT2|FAT2	150869863|150869863	0.964000|0.964000	0.33143|0.33143	0.913000|0.913000	0.36048|0.36048	0.055000|0.055000	0.15305|0.15305	1.647000|1.647000	0.37260|0.37260	0.886000|0.886000	0.36113|0.36113	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		6	141	0	0	0	1	0	6	141				
VPS13B	157680	broad.mit.edu	37	8	100733115	100733115	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr8:100733115A>G	ENST00000358544.2	+	39	7076	c.6965A>G	c.(6964-6966)tAt>tGt	p.Y2322C	VPS13B_ENST00000357162.2_Missense_Mutation_p.Y2297C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2322					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGGGGTCTATGAAGTCTTA	0.348																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(6964-6966)tAt>tGt		vacuolar protein sorting 13 homolog B (yeast)							38.0	38.0	38.0					8																	100733115		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100733115A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6965A>G	8.37:g.100733115A>G	ENSP00000351346:p.Tyr2322Cys					VPS13B_ENST00000357162.2_Missense_Mutation_p.Y2297C|VPS13B_ENST00000395996.1_3'UTR	p.Y2322C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		39	7076	+	Breast(36;3.73e-07)		2322					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6965A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299673	0.60195	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.75477	-0.93;-0.94	5.94	5.94	0.96194	.	0.142959	0.47455	D	0.000227	T	0.77343	0.4116	L	0.55481	1.735	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.49528	0.614;0.533	T	0.80127	-0.1512	10	0.72032	D	0.01	.	16.4055	0.83662	1.0:0.0:0.0:0.0	.	2297;2322	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	C	2297;2322	ENSP00000349685:Y2297C;ENSP00000351346:Y2322C	ENSP00000349685:Y2297C	Y	+	2	0	VPS13B	100802291	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.306000	0.59117	2.275000	0.75901	0.533000	0.62120	TAT		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		14	21	0	0	0	1	0	14	21				
APP	351	broad.mit.edu	37	21	27277388	27277388	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:27277388A>T	ENST00000346798.3	-	15	1944	c.1911T>A	c.(1909-1911)gtT>gtA	p.V637V	APP_ENST00000440126.3_Splice_Site_p.V613V|APP_ENST00000348990.5_Splice_Site_p.V562V|APP_ENST00000357903.3_Splice_Site_p.V618V|APP_ENST00000358918.3_Intron|APP_ENST00000359726.3_Splice_Site_p.V581V|APP_ENST00000448388.2_Splice_Site_p.V527V|APP_ENST00000354192.3_Splice_Site_p.V506V|APP_ENST00000439274.2_Splice_Site_p.V581V	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	637					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CAACAGGCTCAACTGGGCACA	0.537																																						ENST00000357903.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e14-1		amyloid beta (A4) precursor protein							133.0	130.0	131.0					21																	27277388		2203	4300	6503	SO:0001630	splice_region_variant	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27277388A>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1910-1T>A	21.37:g.27277388A>T						APP_ENST00000354192.3_Splice_Site_p.V506_splice|APP_ENST00000439274.2_Splice_Site_p.V581_splice|APP_ENST00000348990.5_Splice_Site_p.V562_splice|APP_ENST00000448388.2_Splice_Site_p.V527_splice|APP_ENST00000346798.3_Splice_Site_p.V637_splice|APP_ENST00000440126.3_Splice_Site_p.V613_splice|APP_ENST00000359726.3_Splice_Site_p.V581_splice|APP_ENST00000358918.3_Intron	p.V618_splice	NM_201413.2	NP_958816.1	P05067	A4_HUMAN			14	2020	-		Breast(209;0.00295)	637					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Splice_Site	SNP	ENST00000346798.3	37	c.1852_splice	CCDS13576.1																																																																																				0.537	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	Silent	10	13	0	0	0	1	0	10	13				
ZNF808	388558	broad.mit.edu	37	19	53058029	53058029	+	Silent	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:53058029G>A	ENST00000359798.4	+	5	2040	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	620					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)		ATACTGGAGAGAAACCATACA	0.398																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1858-1860)gaG>gaA		zinc finger protein 808							52.0	56.0	55.0					19																	53058029		2194	4293	6487	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058029G>A	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.1860G>A	19.37:g.53058029G>A							p.E620E	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2040	+			620					Q68CN7	Silent	SNP	ENST00000359798.4	37	c.1860G>A	CCDS46167.1																																																																																				0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		35	34	0	0	0	1	0	35	34				
FBLN1	2192	broad.mit.edu	37	22	45914649	45914649	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:45914649C>T	ENST00000327858.6	+	2	262	c.167C>T	c.(166-168)aCg>aTg	p.T56M	FBLN1_ENST00000262722.7_Missense_Mutation_p.T56M|FBLN1_ENST00000340923.5_Missense_Mutation_p.T56M|FBLN1_ENST00000402984.3_Missense_Mutation_p.T56M|FBLN1_ENST00000442170.2_Missense_Mutation_p.T56M|FBLN1_ENST00000348697.2_Missense_Mutation_p.T56M	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	56	Anaphylatoxin-like 1. {ECO:0000255|PROSITE-ProRule:PRU00022}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCATATGCTACGGAATCCAAA	0.562																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(166-168)aCg>aTg		fibulin 1							80.0	64.0	70.0					22																	45914649		2202	4300	6502	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45914649C>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.167C>T	22.37:g.45914649C>T	ENSP00000331544:p.Thr56Met					FBLN1_ENST00000402984.3_Missense_Mutation_p.T56M|FBLN1_ENST00000340923.5_Missense_Mutation_p.T56M|FBLN1_ENST00000327858.6_Missense_Mutation_p.T56M|FBLN1_ENST00000262722.7_Missense_Mutation_p.T56M|FBLN1_ENST00000442170.2_Missense_Mutation_p.T56M	p.T56M			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	2	314	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	56			Anaphylatoxin-like 1.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.167C>T	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119517	0.56505	.	.	ENSG00000077942	ENST00000411478;ENST00000445110;ENST00000455233;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000439835;ENST00000450975;ENST00000454279	T;T;T;D;T;T;T;T;T	0.86297	1.84;1.84;1.84;-2.1;1.84;1.84;1.84;1.84;0.93	4.64	4.64	0.57946	Anaphylatoxin/fibulin (4);	0.305300	0.31010	N	0.008434	D	0.83524	0.5273	N	0.08118	0	0.09310	N	1	D;D;D;D	0.69078	0.997;0.993;0.995;0.993	P;P;P;P	0.57283	0.65;0.817;0.759;0.795	T	0.78097	-0.2337	10	0.59425	D	0.04	.	14.529	0.67912	0.0:1.0:0.0:0.0	.	56;56;56;56	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	M	64;14;56;56;56;56;56;56;56;14;65;14	ENSP00000415289:T64M;ENSP00000402963:T56M;ENSP00000262723:T56M;ENSP00000385521:T56M;ENSP00000262722:T56M;ENSP00000331544:T56M;ENSP00000393812:T56M;ENSP00000342212:T56M;ENSP00000414584:T14M	ENSP00000262722:T56M	T	+	2	0	FBLN1	44293313	0.207000	0.23482	0.011000	0.14972	0.742000	0.42306	3.455000	0.52993	2.414000	0.81942	0.655000	0.94253	ACG		0.562	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		18	0	0	0	0	1	0	18	0				
MT-ND2	4536	broad.mit.edu	37	M	2004	2004	+	5'Flank	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrM:2004G>A	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TL1_ENST00000386347.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CAAACCTACCGAGCCTGGTGA	0.433																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2004G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2004G>A	Exception_encountered							NR_039705.1						0	334	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.433	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		63	3	0	0	0	1	0	63	3				
PXDN	7837	broad.mit.edu	37	2	1652949	1652949	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:1652949C>T	ENST00000252804.4	-	17	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	868					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTCCTGGCCCGGGAGTCATT	0.662																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2602-2604)cGg>cAg		peroxidasin homolog (Drosophila)							16.0	19.0	18.0					2																	1652949		2091	4186	6277	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652949C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2603G>A	2.37:g.1652949C>T	ENSP00000252804:p.Arg868Gln						p.R868Q	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2653	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	868					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2603G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054021	0.75960	.	.	ENSG00000130508	ENST00000252804	T	0.73363	-0.74	5.36	5.36	0.76844	.	0.063890	0.64402	D	0.000015	D	0.86768	0.6012	M	0.79805	2.47	0.46131	D	0.998883	D	0.67145	0.996	D	0.65773	0.938	D	0.87969	0.2735	10	0.72032	D	0.01	-43.7993	19.5152	0.95160	0.0:1.0:0.0:0.0	.	868	Q92626	PXDN_HUMAN	Q	868	ENSP00000252804:R868Q	ENSP00000252804:R868Q	R	-	2	0	PXDN	1631956	1.000000	0.71417	0.689000	0.30133	0.602000	0.36980	5.959000	0.70339	2.683000	0.91414	0.558000	0.71614	CGG		0.662	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		17	31	0	0	0	1	0	17	31				
SIL1	64374	broad.mit.edu	37	5	138282944	138282944	+	Silent	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:138282944G>C	ENST00000394817.2	-	10	1387	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Silent_p.P416P|SIL1_ENST00000509534.1_Silent_p.P423P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	416					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCGAGCTGGGGGTCCTGAC	0.677									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(1246-1248)ccC>ccG		SIL1 nucleotide exchange factor							39.0	36.0	37.0					5																	138282944		2203	4298	6501	SO:0001819	synonymous_variant	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138282944G>C	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1248C>G	5.37:g.138282944G>C						SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Silent_p.P416P|SIL1_ENST00000509534.1_Silent_p.P423P	p.P416P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1387	-			416					D3DQC2|Q8N2L3	Silent	SNP	ENST00000394817.2	37	c.1248C>G	CCDS4209.1																																																																																				0.677	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		34	21	0	0	0	1	0	34	21				
MAN1B1	11253	broad.mit.edu	37	9	139981513	139981513	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:139981513C>G	ENST00000371589.4	+	1	135	c.62C>G	c.(61-63)aCg>aGg	p.T21R	MAN1B1_ENST00000474902.1_5'Flank|AL807752.1_ENST00000596585.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	21					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GACTTCCTGACGCCGCCAGTG	0.687																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(61-63)aCg>aGg		mannosidase, alpha, class 1B, member 1							15.0	20.0	18.0					9																	139981513		2193	4271	6464	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139981513C>G	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.62C>G	9.37:g.139981513C>G	ENSP00000360645:p.Thr21Arg						p.T21R	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	1	135	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	21					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.62C>G	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776948	0.49786	.	.	ENSG00000177239	ENST00000371589	T	0.20463	2.07	3.25	2.3	0.28687	.	.	.	.	.	T	0.11836	0.0288	N	0.22421	0.69	0.80722	D	1	P	0.50272	0.933	B	0.40038	0.317	T	0.07731	-1.0757	9	0.51188	T	0.08	.	5.5361	0.17011	0.2008:0.6853:0.0:0.1139	.	21	Q9UKM7	MA1B1_HUMAN	R	21	ENSP00000360645:T21R	ENSP00000360645:T21R	T	+	2	0	MAN1B1	139101334	0.464000	0.25807	0.994000	0.49952	0.373000	0.29922	0.257000	0.18369	0.645000	0.30675	0.462000	0.41574	ACG		0.687	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		4	10	0	0	0	1	0	4	10				
TAS2R30	259293	broad.mit.edu	37	12	11286029	11286029	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286029G>A	ENST00000539585.1	-	1	1214	c.815C>T	c.(814-816)cCt>cTt	p.P272L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	272					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTGGGTTGAAGGATAGCTGAA	0.413																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(814-816)cCt>cTt		taste receptor, type 2, member 30							140.0	148.0	145.0					12																	11286029		2147	4276	6423	SO:0001583	missense	259293							g.chr12:11286029G>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.815C>T	12.37:g.11286029G>A	ENSP00000444736:p.Pro272Leu					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.P272L	NM_001097643.1	NP_001091112.1					1	1214	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.815C>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	12.98	2.100577	0.37048	.	.	ENSG00000256188	ENST00000539585	T	0.44083	0.93	2.7	2.7	0.31948	.	.	.	.	.	T	0.49864	0.1582	M	0.69248	2.105	0.21020	N	0.999807	P	0.45011	0.848	P	0.50825	0.651	T	0.34551	-0.9824	9	0.51188	T	0.08	.	8.941	0.35729	0.0:0.0:1.0:0.0	.	272	P59541	T2R30_HUMAN	L	272	ENSP00000444736:P272L	ENSP00000444736:P272L	P	-	2	0	TAS2R30	11177296	0.999000	0.42202	0.084000	0.20598	0.048000	0.14542	5.144000	0.64832	1.516000	0.48900	0.313000	0.20887	CCT		0.413	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		94	52	0	0	0	1	0	94	52				
GPR149	344758	broad.mit.edu	37	3	154056029	154056029	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:154056029C>A	ENST00000389740.2	-	4	1754	c.1655G>T	c.(1654-1656)tGt>tTt	p.C552F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	552					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAATGCACACAAGGGAAT	0.448																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1654-1656)tGt>tTt		G protein-coupled receptor 149							110.0	110.0	110.0					3																	154056029		1878	4103	5981	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154056029C>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1655G>T	3.37:g.154056029C>A	ENSP00000374390:p.Cys552Phe						p.C552F	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1754	-			552						Missense_Mutation	SNP	ENST00000389740.2	37	c.1655G>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337668	0.81911	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79465	-0.1792	9	0.87932	D	0	-17.1242	19.9836	0.97340	0.0:1.0:0.0:0.0	.	552	Q86SP6	GP149_HUMAN	F	552	.	ENSP00000374390:C552F	C	-	2	0	GPR149	155538723	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	7.463000	0.80869	2.726000	0.93360	0.655000	0.94253	TGT		0.448	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		61	135	1	0	3.7469e-33	1	4.56939e-33	61	135				
PTGER4	5734	broad.mit.edu	37	5	40691917	40691917	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:40691917T>C	ENST00000302472.3	+	3	1928	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	302					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCAGCCAAGTTTGGAGCGAGA	0.413																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(904-906)Ttg>Ctg		prostaglandin E receptor 4 (subtype EP4)							100.0	99.0	99.0					5																	40691917		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40691917T>C	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.904T>C	5.37:g.40691917T>C							p.L302L	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			3	1928	+			302					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.904T>C	CCDS3930.1																																																																																				0.413	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		17	72	0	0	0	1	0	17	72				
PTPN13	5783	broad.mit.edu	37	4	87696407	87696407	+	Silent	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:87696407T>A	ENST00000411767.2	+	34	5655	c.5592T>A	c.(5590-5592)gtT>gtA	p.V1864V	PTPN13_ENST00000436978.1_Silent_p.V1869V|PTPN13_ENST00000316707.6_Silent_p.V1673V|PTPN13_ENST00000511467.1_Silent_p.V1869V|PTPN13_ENST00000427191.2_Silent_p.V1845V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1864	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGATTAGTTATTGGACGAG	0.388																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5605-5607)gtT>gtA		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							77.0	71.0	73.0					4																	87696407		1874	4117	5991	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87696407T>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5592T>A	4.37:g.87696407T>A						PTPN13_ENST00000411767.2_Silent_p.V1864V|PTPN13_ENST00000427191.2_Silent_p.V1845V|PTPN13_ENST00000316707.6_Silent_p.V1673V|PTPN13_ENST00000511467.1_Silent_p.V1869V	p.V1869V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	34	6087	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1864					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.5607T>A	CCDS47094.1																																																																																				0.388	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			4	23	0	0	0	1	0	4	23				
PPAN	56342	broad.mit.edu	37	19	10221193	10221193	+	Missense_Mutation	SNP	C	C	A	rs201708953		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:10221193C>A	ENST00000253107.7	+	10	1040	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.L312M|PPAN_ENST00000556468.1_Missense_Mutation_p.L312M|P2RY11_ENST00000321826.4_5'Flank|SNORD105B_ENST00000458770.1_RNA|SNORD105_ENST00000386910.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L312M|PPAN_ENST00000393793.1_Missense_Mutation_p.L259M	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	312					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L312V(4)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCAGGCCATCCTGGAAGCCAA	0.667																																						ENST00000428358.1																			4	Substitution - Missense(4)	p.L312V(4)	liver(4)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(934-936)Ctg>Atg									18.0	21.0	20.0					19																	10221193		2200	4294	6494	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10221193C>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.934C>A	19.37:g.10221193C>A	ENSP00000253107:p.Leu312Met					PPAN_ENST00000556468.1_Missense_Mutation_p.L312M|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L312M|PPAN_ENST00000393793.1_Missense_Mutation_p.L259M|PPAN_ENST00000253107.7_Missense_Mutation_p.L312M	p.L312M	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		10	1106	+			312					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.934C>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922146	0.52653	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793	T;T;T;T;T	0.62105	1.5;0.05;1.52;0.05;1.51	4.78	1.49	0.22878	.	.	.	.	.	T	0.67795	0.2931	L	0.49778	1.585	0.47737	D	0.999503	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.68192	0.942;0.956;0.956	T	0.63954	-0.6520	9	0.46703	T	0.11	-29.1495	7.3602	0.26742	0.0:0.6426:0.0:0.3574	.	312;312;312	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	M	312;312;312;312;312;259	ENSP00000411918:L312M;ENSP00000377385:L312M;ENSP00000253107:L312M;ENSP00000450710:L312M;ENSP00000377382:L259M	ENSP00000253107:L312M	L	+	1	2	PPAN;PPAN-P2RY11	10082193	0.134000	0.22483	0.998000	0.56505	0.690000	0.40134	0.647000	0.24812	0.444000	0.26612	-0.258000	0.10820	CTG		0.667	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		10	150	1	0	9.70103e-10	1	1.09e-09	10	150				
TRIP11	9321	broad.mit.edu	37	14	92506029	92506029	+	Start_Codon_SNP	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:92506029T>C	ENST00000267622.4	-	1	374	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CAGGACGACATCGCGGCGAGT	0.602			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1-3)Atg>Gtg		thyroid hormone receptor interactor 11							19.0	18.0	18.0					14																	92506029		2203	4300	6503	SO:0001582	initiator_codon_variant	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92506029T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1A>G	14.37:g.92506029T>C	ENSP00000267622:p.Met1Val					TRIP11_ENST00000555105.1_5'UTR	p.M1V	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	1	374	-			1					B2RUT2|O14689|O15154|O95949	Translation_Start_Site	SNP	ENST00000267622.4	37	c.1A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520251	0.64747	.	.	ENSG00000100815	ENST00000267622	T	0.06142	3.34	5.57	4.42	0.53409	.	0.050342	0.85682	D	0.000000	T	0.07683	0.0193	.	.	.	0.58432	D	0.999996	B	0.17268	0.021	B	0.18561	0.022	T	0.09818	-1.0657	9	0.87932	D	0	.	11.5893	0.50938	0.0:0.0698:0.0:0.9302	.	1	Q15643	TRIPB_HUMAN	V	1	ENSP00000267622:M1V	ENSP00000267622:M1V	M	-	1	0	TRIP11	91575782	.	.	0.998000	0.56505	0.777000	0.43975	.	.	0.949000	0.37715	-0.462000	0.05337	ATG		0.602	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		Missense_Mutation	6	2	0	0	0	1	0	6	2				
GPATCH1	55094	broad.mit.edu	37	19	33604672	33604672	+	Splice_Site	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:33604672G>T	ENST00000170564.2	+	14	2206		c.e14-1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAATTCCCAGTTCAACTTTA	0.433																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.e14-1		G patch domain containing 1							79.0	76.0	77.0					19																	33604672		2203	4300	6503	SO:0001630	splice_region_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33604672G>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1893-1G>T	19.37:g.33604672G>T								NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			14	2206	+	Esophageal squamous(110;0.137)							Q8IZV6|Q8N3B7|Q9NW94	Splice_Site	SNP	ENST00000170564.2	37		CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919452	0.52653	.	.	ENSG00000076650	ENST00000170564	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.30965	N	0.723225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6913	0.91583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPATCH1	38296512	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	8.180000	0.89694	2.664000	0.90586	0.591000	0.81541	.		0.433	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	Intron	15	26	1	0	0.000422831	1	0.000435909	15	26				
ELF1	1997	broad.mit.edu	37	13	41507845	41507845	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:41507845G>C	ENST00000239882.3	-	9	1890	c.1576C>G	c.(1576-1578)Cca>Gca	p.P526A	ELF1_ENST00000442101.1_Missense_Mutation_p.P502A|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	526					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	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 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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTGAAGGATGGAGAGGAAGCC	0.512																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1576-1578)Cca>Gca		E74-like factor 1 (ets domain transcription factor)							102.0	95.0	98.0					13																	41507845		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41507845G>C	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1576C>G	13.37:g.41507845G>C	ENSP00000239882:p.Pro526Ala					ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P502A	p.P526A	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	9	1890	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	526					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1576C>G	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	g	13.02	2.113297	0.37339	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.24350	1.87;1.86	5.63	4.79	0.61399	.	0.132058	0.52532	N	0.000062	T	0.42787	0.1218	L	0.36672	1.1	0.37597	D	0.920415	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.50398	-0.8833	10	0.62326	D	0.03	.	16.7814	0.85563	0.0:0.1291:0.8709:0.0	.	502;526	E9PDQ9;P32519	.;ELF1_HUMAN	A	502;268;526	ENSP00000405580:P502A;ENSP00000239882:P526A	ENSP00000239882:P526A	P	-	1	0	ELF1	40405845	1.000000	0.71417	0.940000	0.37924	0.605000	0.37080	2.928000	0.48908	1.392000	0.46585	-0.187000	0.12897	CCA		0.512	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		45	4	0	0	0	1	0	45	4				
CXCL12	6387	broad.mit.edu	37	10	44873206	44873206	+	Intron	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:44873206C>A	ENST00000374429.2	-	3	353				CXCL12_ENST00000496375.1_5'Flank|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395794.2_Silent_p.G138G|AL137026.1_ENST00000593376.1_5'Flank|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Intron	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12						adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	ATTACACATCCCCAGGAGAGG	0.547																																						ENST00000395794.2																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(412-414)ggG>ggT		chemokine (C-X-C motif) ligand 12	Dexamethasone(DB01234)						34.0	35.0	34.0					10																	44873206		876	1991	2867	SO:0001627	intron_variant	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44873206C>A	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.266+878G>T	10.37:g.44873206C>A						CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR	p.G138G	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN			4	457	-			0					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Silent	SNP	ENST00000374429.2	37	c.414G>T	CCDS44373.1																																																																																				0.547	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		16	11	1	0	4.14922e-12	1	4.88143e-12	16	11				
EDAR	10913	broad.mit.edu	37	2	109513391	109513391	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:109513391G>C	ENST00000258443.2	-	12	1749	c.1319C>G	c.(1318-1320)cCt>cGt	p.P440R	EDAR_ENST00000409271.1_Missense_Mutation_p.P472R|EDAR_ENST00000376651.1_Missense_Mutation_p.P472R	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	440					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGGGAGGCAGGTGGCACAAC	0.592																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1414-1416)cCt>cGt		ectodysplasin A receptor							51.0	42.0	45.0					2																	109513391		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513391G>C	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1319C>G	2.37:g.109513391G>C	ENSP00000258443:p.Pro440Arg					EDAR_ENST00000376651.1_Missense_Mutation_p.P472R|EDAR_ENST00000258443.2_Missense_Mutation_p.P440R	p.P472R			Q9UNE0	EDAR_HUMAN			12	1858	-			440					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1415C>G	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202625	0.58234	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90563	-2.69;-2.66;-2.69	5.19	4.32	0.51571	.	0.255608	0.39985	N	0.001211	T	0.82135	0.4971	L	0.27053	0.805	0.09310	N	1	P;B	0.37015	0.578;0.435	B;B	0.30782	0.12;0.12	T	0.76285	-0.3015	10	0.87932	D	0	-5.2431	9.9969	0.41905	0.0941:0.0:0.9059:0.0	.	472;440	E9PC98;Q9UNE0	.;EDAR_HUMAN	R	472;440;472	ENSP00000386371:P472R;ENSP00000258443:P440R;ENSP00000365839:P472R	ENSP00000258443:P440R	P	-	2	0	EDAR	108879823	0.939000	0.31865	0.003000	0.11579	0.005000	0.04900	5.168000	0.64978	1.323000	0.45263	-0.142000	0.14014	CCT		0.592	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			12	9	0	0	0	1	0	12	9				
TP53	7157	broad.mit.edu	37	17	7577552	7577552	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577552C>A	ENST00000269305.4	-	7	918	c.729G>T	c.(727-729)atG>atT	p.M243I	TP53_ENST00000455263.2_Missense_Mutation_p.M243I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M243I|TP53_ENST00000445888.2_Missense_Mutation_p.M243I|TP53_ENST00000359597.4_Missense_Mutation_p.M243I|TP53_ENST00000420246.2_Missense_Mutation_p.M243I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	243	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.M243I(7)|p.?(5)|p.M243_G244>IC(1)|p.M243fs*18(1)|p.G244fs*3(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.M243T(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCATGCCGCCCATGCAGGAAC	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		29	Whole gene deletion(8)|Substitution - Missense(8)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.0?(8)|p.M243I(7)|p.?(5)|p.M243_G244>IC(1)|p.M243fs*18(1)|p.G244fs*3(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.M243T(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)	breast(6)|biliary_tract(5)|bone(4)|stomach(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|ovary(2)|liver(2)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(727-729)atG>atT	Other conserved DNA damage response genes	tumor protein p53							146.0	110.0	122.0					17																	7577552		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577552C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.729G>T	17.37:g.7577552C>A	ENSP00000269305:p.Met243Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.M243I|TP53_ENST00000455263.2_Missense_Mutation_p.M243I|TP53_ENST00000269305.4_Missense_Mutation_p.M243I|TP53_ENST00000445888.2_Missense_Mutation_p.M243I|TP53_ENST00000359597.4_Missense_Mutation_p.M243I	p.M243I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	861	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	243		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.729G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986310	0.74589	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	M	0.71871	2.18	0.58432	D	0.999993	D;B;D;D;D;D	0.76494	0.999;0.035;0.995;0.999;0.997;0.987	D;B;D;D;D;D	0.91635	0.999;0.07;0.943;0.999;0.999;0.985	D	0.97818	1.0255	10	0.87932	D	0	-33.9746	12.2044	0.54345	0.1716:0.8284:0.0:0.0	.	243;243;150;243;243;243	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	243;243;243;243;243;243;232;150;111;150	ENSP00000410739:M243I;ENSP00000352610:M243I;ENSP00000269305:M243I;ENSP00000398846:M243I;ENSP00000391127:M243I;ENSP00000391478:M243I;ENSP00000425104:M111I;ENSP00000423862:M150I	ENSP00000269305:M243I	M	-	3	0	TP53	7518277	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.751000	0.55165	1.294000	0.44707	0.462000	0.41574	ATG		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	2	1	0	4.34311e-12	1	5.05012e-12	30	2				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			0							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			4	47	0	0	0	1	0	4	47				
C15orf41	84529	broad.mit.edu	37	15	36872095	36872095	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:36872095G>T	ENST00000566621.1	+	1	284	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	C15orf41_ENST00000437989.2_Missense_Mutation_p.A12S|C15orf41_ENST00000569302.1_Missense_Mutation_p.A12S	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	12										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CGACGAGATAGCCCAGTGCCT	0.567																																						ENST00000566621.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(34-36)Gcc>Tcc		chromosome 15 open reading frame 41							62.0	60.0	61.0					15																	36872095		1566	3579	5145	SO:0001583	missense	84529						protein binding	g.chr15:36872095G>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.34G>T	15.37:g.36872095G>T	ENSP00000455397:p.Ala12Ser					C15orf41_ENST00000569302.1_Missense_Mutation_p.A12S|C15orf41_ENST00000437989.2_Missense_Mutation_p.A12S	p.A12S	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	1	284	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	12					B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	c.34G>T	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202062	0.58234	.	.	ENSG00000186073	ENST00000437989	T	0.44083	0.93	5.35	5.35	0.76521	.	.	.	.	.	T	0.30008	0.0751	N	0.17474	0.49	0.80722	D	1	B	0.20671	0.047	B	0.13407	0.009	T	0.05225	-1.0898	9	0.44086	T	0.13	-2.8655	15.9204	0.79562	0.0:0.0:1.0:0.0	.	12	Q9Y2V0	CO041_HUMAN	S	12	ENSP00000401362:A12S	ENSP00000401362:A12S	A	+	1	0	C15orf41	34659387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.167000	0.64972	2.785000	0.95823	0.591000	0.81541	GCC		0.567	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		8	11	1	0	1.26484e-09	1	1.38994e-09	8	11				
PHLDB1	23187	broad.mit.edu	37	11	118506246	118506246	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:118506246C>G	ENST00000361417.2	+	11	2926	c.2515C>G	c.(2515-2517)Cgc>Ggc	p.R839G	AP002954.3_ENST00000530198.1_RNA|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.R839G	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	839										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCTGCTCCGCAGCATCGC	0.632																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2515-2517)Cgc>Ggc		pleckstrin homology-like domain, family B, member 1							27.0	29.0	28.0					11																	118506246		2200	4293	6493	SO:0001583	missense	23187							g.chr11:118506246C>G		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2515C>G	11.37:g.118506246C>G	ENSP00000354498:p.Arg839Gly					PHLDB1_ENST00000356063.5_Missense_Mutation_p.R839G|PHLDB1_ENST00000534672.1_3'UTR	p.R839G	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	11	2926	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	839					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2515C>G	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255010	0.59321	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.52754	0.65;0.65	4.71	4.71	0.59529	.	0.155191	0.53938	D	0.000059	T	0.54351	0.1853	L	0.58101	1.795	0.80722	D	1	P;B;D;D	0.64830	0.468;0.001;0.968;0.994	B;B;P;P	0.49226	0.113;0.003;0.487;0.603	T	0.58498	-0.7626	10	0.46703	T	0.11	-19.1824	18.0302	0.89281	0.0:1.0:0.0:0.0	.	583;839;839;839	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	G	839;598;203;839	ENSP00000354498:R839G;ENSP00000348359:R839G	ENSP00000348359:R839G	R	+	1	0	PHLDB1	118011456	0.577000	0.26708	1.000000	0.80357	0.974000	0.67602	1.208000	0.32345	2.301000	0.77427	0.467000	0.42956	CGC		0.632	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		17	56	0	0	0	1	0	17	56				
NAA15	80155	broad.mit.edu	37	4	140278710	140278710	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:140278710G>A	ENST00000296543.5	+	11	1580		c.e11+1		NAA15_ENST00000398947.1_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AATCTATAAGGTAAAAATCTT	0.284																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.e11+1		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							30.0	28.0	29.0					4																	140278710		1786	4057	5843	SO:0001630	splice_region_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140278710G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1257+1G>A	4.37:g.140278710G>A						NAA15_ENST00000398947.1_Splice_Site		NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			11	1580	+								D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Splice_Site	SNP	ENST00000296543.5	37		CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489336	0.84962	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8695	0.96845	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAA15	140498160	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	.		0.284	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	Intron	6	4	0	0	0	1	0	6	4				
PRPH2	5961	broad.mit.edu	37	6	42689572	42689572	+	Silent	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:42689572G>T	ENST00000230381.5	-	1	740	c.501C>A	c.(499-501)ggC>ggA	p.G167G		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	167			G -> D (in PDREP; butterfly-shaped). {ECO:0000269|PubMed:8485574}.|G -> S (in PDREP; butterfly-shaped). {ECO:0000269|PubMed:16024869}.		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AACCGTTGTTGCCGCAGCATT	0.502																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(499-501)ggC>ggA		peripherin 2 (retinal degeneration, slow)							152.0	138.0	143.0					6																	42689572		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689572G>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.501C>A	6.37:g.42689572G>T							p.G167G	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	740	-	Colorectal(47;0.196)		167		G -> D (in PDREP; butterfly-shaped).|G -> S (in PDREP; butterfly-shaped).			Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.501C>A	CCDS4871.1																																																																																				0.502	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		22	234	1	0	7.41877e-09	1	8.06388e-09	22	234				
ZNF326	284695	broad.mit.edu	37	1	90484253	90484253	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:90484253G>A	ENST00000340281.4	+	9	1227	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M	ZNF326_ENST00000455342.2_Missense_Mutation_p.V156M|ZNF326_ENST00000370447.3_Missense_Mutation_p.V273M	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	362					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGAGTGTATGGTGAATAAATT	0.289																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(1084-1086)Gtg>Atg		zinc finger protein 326							52.0	57.0	55.0					1																	90484253		2198	4280	6478	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90484253G>A	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1084G>A	1.37:g.90484253G>A	ENSP00000340796:p.Val362Met					ZNF326_ENST00000370447.2_Missense_Mutation_p.V273M|ZNF326_ENST00000455342.2_Missense_Mutation_p.V156M	p.V362M	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	9	1227	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	362					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.1084G>A	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094288	0.76870	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.17528	2.27;2.27;2.27	5.56	5.56	0.83823	.	0.066635	0.64402	D	0.000018	T	0.32496	0.0831	M	0.62723	1.935	0.50313	D	0.999865	D;D	0.63046	0.992;0.992	D;P	0.66847	0.947;0.9	T	0.02457	-1.1156	10	0.62326	D	0.03	-10.1859	19.1298	0.93400	0.0:0.0:1.0:0.0	.	362;362	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	M	362;362;273;156	ENSP00000340796:V362M;ENSP00000359476:V273M;ENSP00000403470:V156M	ENSP00000340796:V362M	V	+	1	0	ZNF326	90256841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.620000	0.88729	0.650000	0.86243	GTG		0.289	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		12	11	0	0	0	1	0	12	11				
CHD4	1108	broad.mit.edu	37	12	6696569	6696569	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:6696569A>C	ENST00000357008.2	-	25	4023	c.3860T>G	c.(3859-3861)gTa>gGa	p.V1287G	CHD4_ENST00000309577.6_Missense_Mutation_p.V1287G|CHD4_ENST00000544040.1_Missense_Mutation_p.V1280G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1284G|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1287					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TTCTTCCCGTACCACATACTG	0.448																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3859-3861)gTa>gGa		chromodomain helicase DNA binding protein 4							175.0	152.0	160.0					12																	6696569		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6696569A>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3860T>G	12.37:g.6696569A>C	ENSP00000349508:p.Val1287Gly					CHD4_ENST00000544484.1_Missense_Mutation_p.V1284G|CHD4_ENST00000357008.2_Missense_Mutation_p.V1287G|CHD4_ENST00000544040.1_Missense_Mutation_p.V1280G|CHD4_ENST00000540960.1_5'UTR	p.V1287G			Q14839	CHD4_HUMAN			25	4023	-			1287					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3860T>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187363	0.57909	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.91011	-2.72;-2.77;-2.72;-2.76	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	D	0.94046	0.8092	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.997;0.998;0.994	D	0.94608	0.7802	10	0.87932	D	0	-7.7215	16.1189	0.81329	1.0:0.0:0.0:0.0	.	1287;1287;1280	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	1284;1280;1287;1287;1261	ENSP00000440392:V1284G;ENSP00000440542:V1280G;ENSP00000312419:V1287G;ENSP00000349508:V1287G	ENSP00000312419:V1287G	V	-	2	0	CHD4	6566830	1.000000	0.71417	0.942000	0.38095	0.987000	0.75469	8.930000	0.92872	2.208000	0.71279	0.459000	0.35465	GTA		0.448	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		35	66	0	0	0	1	0	35	66				
PPHLN1	51535	broad.mit.edu	37	12	42745780	42745780	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:42745780G>A	ENST00000395568.2	+	3	250	c.166G>A	c.(166-168)Gtt>Att	p.V56I	PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.V63I|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.V56I|PPHLN1_ENST00000549190.1_Missense_Mutation_p.V74I|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.V56I	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	56					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTACAGTCATGTTGATTACCG	0.423																																						ENST00000395568.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(166-168)Gtt>Att		periphilin 1							101.0	94.0	97.0					12																	42745780		2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42745780G>A	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.166G>A	12.37:g.42745780G>A	ENSP00000378935:p.Val56Ile					PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.V56I|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.V74I|PPHLN1_ENST00000449194.2_Missense_Mutation_p.V56I|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.V63I	p.V56I	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	3	250	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	56					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.166G>A	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600052	0.46318	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000546750;ENST00000547847	.	.	.	6.17	6.17	0.99709	.	0.420221	0.22532	N	0.058828	T	0.53932	0.1827	L	0.51422	1.61	0.80722	D	1	P;B;B;B;B	0.43788	0.817;0.435;0.041;0.041;0.041	B;B;B;B;B	0.41764	0.366;0.115;0.011;0.011;0.011	T	0.51957	-0.8639	9	0.37606	T	0.19	-0.7418	13.2728	0.60170	0.0743:0.0:0.9257:0.0	.	56;56;56;63;74	Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-2;F8W0Q9	PPHLN_HUMAN;.;.;.;.	I	74;63;56;56;56;63;56	.	ENSP00000351066:V56I	V	+	1	0	PPHLN1	41032047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.710000	0.47169	2.941000	0.99782	0.655000	0.94253	GTT		0.423	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		15	30	0	0	0	1	0	15	30				
MGLL	11343	broad.mit.edu	37	3	127439984	127439984	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:127439984G>C	ENST00000434178.2	-	5	1288	c.392C>G	c.(391-393)aCg>aGg	p.T131R	MGLL_ENST00000453507.2_Missense_Mutation_p.T141R|MGLL_ENST00000398104.1_Missense_Mutation_p.T131R|MGLL_ENST00000265052.5_Missense_Mutation_p.T141R|MGLL_ENST00000398101.3_Missense_Mutation_p.T105R			Q99685	MGLL_HUMAN	monoglyceride lipase	131					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CTCTGCGGCCGTGAGGATGGC	0.537																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(391-393)aCg>aGg		monoglyceride lipase							47.0	53.0	51.0					3																	127439984		2011	4176	6187	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127439984G>C	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.392C>G	3.37:g.127439984G>C	ENSP00000402798:p.Thr131Arg					MGLL_ENST00000265052.5_Missense_Mutation_p.T141R|MGLL_ENST00000398104.1_Missense_Mutation_p.T131R|MGLL_ENST00000453507.2_Missense_Mutation_p.T141R|MGLL_ENST00000398101.3_Missense_Mutation_p.T105R	p.T131R			Q99685	MGLL_HUMAN			5	1288	-			131					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.392C>G	CCDS43148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.410956|3.410956	0.62399|0.62399	.|.	.|.	ENSG00000074416|ENSG00000074416	ENST00000496306|ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000487473;ENST00000536024;ENST00000453507;ENST00000484451;ENST00000493611	.|T;T;T;T;T;T;T	.|0.76709	.|-1.04;-1.04;-1.04;-1.04;-0.26;-0.26;-0.26	5.35|5.35	4.46|4.46	0.54185|0.54185	.|Alpha/beta hydrolase fold-1 (1);	.|0.213337	.|0.49305	.|D	.|0.000149	D|D	0.84669|0.84669	0.5523|0.5523	L|L	0.61036|0.61036	1.89|1.89	0.51233|0.51233	D|D	0.999918|0.999918	.|D;D;D;D;D	.|0.65815	.|0.957;0.977;0.968;0.982;0.995	.|P;P;P;P;D	.|0.70487	.|0.702;0.609;0.903;0.861;0.969	T|T	0.83237|0.83237	-0.0060|-0.0060	5|10	.|0.33940	.|T	.|0.23	-34.451|-34.451	13.4184|13.4184	0.60982|0.60982	0.079:0.0:0.921:0.0|0.079:0.0:0.921:0.0	.|.	.|141;131;131;141;105	.|B7Z9D1;B2ZGL7;Q99685;B3KRC2;E7EWX8	.|.;.;MGLL_HUMAN;.;.	G|R	11|131;141;131;105;55;141;141;55;68	.|ENSP00000402798:T131R;ENSP00000265052:T141R;ENSP00000381176:T131R;ENSP00000381173:T105R;ENSP00000420125:T55R;ENSP00000419340:T55R;ENSP00000417689:T68R	.|ENSP00000265052:T141R	R|T	-|-	1|2	2|0	MGLL|MGLL	128922674|128922674	1.000000|1.000000	0.71417|0.71417	0.033000|0.033000	0.17914|0.17914	0.309000|0.309000	0.27889|0.27889	7.136000|7.136000	0.77285|0.77285	1.224000|1.224000	0.43551|0.43551	0.591000|0.591000	0.81541|0.81541	CGG|ACG		0.537	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		22	60	0	0	0	1	0	22	60				
DPF1	8193	broad.mit.edu	37	19	38713335	38713335	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:38713335A>C	ENST00000420980.2	-	2	150	c.124T>G	c.(124-126)Ttc>Gtc	p.F42V	DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Missense_Mutation_p.F42V|DPF1_ENST00000456296.1_Missense_Mutation_p.F16V|DPF1_ENST00000416611.1_Missense_Mutation_p.F16V	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	42					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCGCGGTAGAAGTCCTCGCCT	0.731																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(46-48)Ttc>Gtc		D4, zinc and double PHD fingers family 1							21.0	22.0	21.0					19																	38713335		2198	4294	6492	SO:0001583	missense	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713335A>C	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.124T>G	19.37:g.38713335A>C	ENSP00000397354:p.Phe42Val					DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000456296.1_Missense_Mutation_p.F16V|DPF1_ENST00000420980.2_Missense_Mutation_p.F42V|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Missense_Mutation_p.F42V	p.F16V			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	169	-	all_cancers(60;1.24e-06)		42					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.46T>G	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	24.4|24.4	4.525714|4.525714	0.85600|0.85600	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000416611;ENST00000456296;ENST00000434076|ENST00000355526	D;D;D|.	0.89617|.	-2.13;-2.08;-2.54|.	3.36|3.36	3.36|3.36	0.38483|0.38483	.|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.61949|0.61949	0.2388|0.2388	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	P;P;D;D;D|.	0.89917|.	0.905;0.905;1.0;0.997;0.974|.	B;P;D;D;P|.	0.91635|.	0.378;0.593;0.999;0.984;0.908|.	T|T	0.60707|0.60707	-0.7210|-0.7210	10|5	0.36615|.	T|.	0.2|.	-14.8949|-14.8949	11.1913|11.1913	0.48687|0.48687	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	16;16;15;42;42|.	B4DMQ8;E9PDV3;C8C3P2;Q92782-2;Q92782|.	.;.;.;.;DPF1_HUMAN|.	V|R	42;42;16;16;16|34	ENSP00000397354:F42V;ENSP00000390223:F16V;ENSP00000411569:F16V|.	ENSP00000390223:F16V|.	F|L	-|-	1|2	0|0	DPF1|DPF1	43405175|43405175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.053000|7.053000	0.76641|0.76641	1.548000|1.548000	0.49413|0.49413	0.324000|0.324000	0.21423|0.21423	TTC|CTT		0.731	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			8	13	0	0	0	1	0	8	13				
NR4A1	3164	broad.mit.edu	37	12	52448894	52448894	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52448894G>A	ENST00000243050.1	+	3	1096	c.782G>A	c.(781-783)gGt>gAt	p.G261D	NR4A1_ENST00000548232.1_Missense_Mutation_p.G261D|NR4A1_ENST00000360284.3_Missense_Mutation_p.G274D|NR4A1_ENST00000550082.1_Missense_Mutation_p.G274D|NR4A1_ENST00000394824.2_Missense_Mutation_p.G261D|NR4A1_ENST00000394825.1_Missense_Mutation_p.G261D|NR4A1_ENST00000545748.1_Missense_Mutation_p.G315D	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	261					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGCCCCAGGTGGAAGTGAA	0.612																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(943-945)gGt>gAt		nuclear receptor subfamily 4, group A, member 1							64.0	68.0	66.0					12																	52448894		2203	4300	6503	SO:0001583	missense	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52448894G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.782G>A	12.37:g.52448894G>A	ENSP00000243050:p.Gly261Asp					NR4A1_ENST00000243050.1_Missense_Mutation_p.G261D|NR4A1_ENST00000548232.1_Missense_Mutation_p.G261D|NR4A1_ENST00000360284.3_Missense_Mutation_p.G274D|NR4A1_ENST00000550082.1_Missense_Mutation_p.G274D|NR4A1_ENST00000394824.2_Missense_Mutation_p.G261D|NR4A1_ENST00000394825.1_Missense_Mutation_p.G261D	p.G315D			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	1939	+			261					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.944G>A	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990619	0.35131	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824;ENST00000548232	D;D;D;D;D;D;D	0.93076	-3.13;-3.15;-3.13;-3.13;-3.13;-3.13;-3.16	4.47	2.53	0.30540	.	0.810228	0.11560	N	0.551830	D	0.84790	0.5550	N	0.08118	0	0.32495	N	0.539678	P;B;P	0.46706	0.883;0.136;0.883	B;B;B	0.41571	0.255;0.066;0.36	T	0.80471	-0.1368	10	0.18710	T	0.47	.	12.3572	0.55182	0.0:0.3267:0.6733:0.0	.	274;261;261	B4DML7;P22736;Q15627	.;NR4A1_HUMAN;.	D	274;315;274;261;261;261;261	ENSP00000353427:G274D;ENSP00000440864:G315D;ENSP00000449539:G274D;ENSP00000243050:G261D;ENSP00000378302:G261D;ENSP00000378301:G261D;ENSP00000449587:G261D	ENSP00000243050:G261D	G	+	2	0	NR4A1	50735161	0.065000	0.20965	0.301000	0.25044	0.931000	0.56810	0.923000	0.28757	0.559000	0.29153	0.561000	0.74099	GGT		0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			45	48	0	0	0	1	0	45	48				
MYCBP2	23077	broad.mit.edu	37	13	77713331	77713331	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:77713331G>A	ENST00000360084.5	-	0	7637				MYCBP2_ENST00000357337.6_Splice_Site_p.D2515D|MYCBP2_ENST00000407578.2_Splice_Site_p.D2553D|MYCBP2_ENST00000544440.2_Splice_Site_p.D2515D					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTACTTACGTCAACAGGGA	0.383																																						ENST00000360084.5																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118								MYC binding protein 2, E3 ubiquitin protein ligase							146.0	134.0	138.0					13																	77713331		2203	4300	6503			23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77713331G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000360084.5:c.-67C>T	13.37:g.77713331G>A						MYCBP2_ENST00000544440.2_Splice_Site_p.D2515_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.D2515_splice|MYCBP2_ENST00000407578.2_Splice_Site_p.D2553_splice				O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	0	7637	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)							Translation_Start_Site	SNP	ENST00000360084.5	37																																																																																						0.383	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		NM_015057		4	76	0	0	0	1	0	4	76				
LYST	1130	broad.mit.edu	37	1	235972583	235972583	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:235972583T>C	ENST00000389794.3	-	5	1709	c.1535A>G	c.(1534-1536)cAt>cGt	p.H512R	LYST_ENST00000536965.1_Missense_Mutation_p.H512R|LYST_ENST00000389793.2_Missense_Mutation_p.H512R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	512					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCTCGGTGATGATGCATAAA	0.383																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(1534-1536)cAt>cGt		lysosomal trafficking regulator							98.0	100.0	99.0					1																	235972583		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972583T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1535A>G	1.37:g.235972583T>C	ENSP00000374444:p.His512Arg					LYST_ENST00000536965.1_Missense_Mutation_p.H512R|LYST_ENST00000389793.2_Missense_Mutation_p.H512R	p.H512R			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1709	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	512					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.1535A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672501	0.67928	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68479	-0.33;-0.33;2.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81957	-0.0695	10	0.72032	D	0.01	.	15.5254	0.75901	0.0:0.0:0.0:1.0	.	512;512	Q99698-3;Q99698	.;LYST_HUMAN	R	512	ENSP00000374444:H512R;ENSP00000374443:H512R;ENSP00000438315:H512R	ENSP00000374443:H512R	H	-	2	0	LYST	234039206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.059000	0.61396	0.528000	0.53228	CAT		0.383	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			44	23	0	0	0	1	0	44	23				
ADAM17	6868	broad.mit.edu	37	2	9663433	9663433	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:9663433C>T	ENST00000310823.3	-	7	970	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.R263Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGAAGTGTTCCGATAGATGTC	0.323																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(787-789)cGg>cAg		ADAM metallopeptidase domain 17							167.0	165.0	165.0					2																	9663433		2203	4299	6502	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9663433C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.788G>A	2.37:g.9663433C>T	ENSP00000309968:p.Arg263Gln					ADAM17_ENST00000497134.1_Missense_Mutation_p.R263Q	p.R263Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	7	970	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		263			Peptidase M12B.		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.788G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997277	0.74818	.	.	ENSG00000151694	ENST00000310823;ENST00000497134	D;D	0.87412	-2.25;-2.25	4.91	4.91	0.64330	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	L	0.52206	1.635	0.80722	D	1	P;P	0.43094	0.799;0.799	B;B	0.31751	0.135;0.135	D	0.83753	0.0210	10	0.39692	T	0.17	.	18.4585	0.90729	0.0:1.0:0.0:0.0	.	263;263	B2RNB2;P78536	.;ADA17_HUMAN	Q	263	ENSP00000309968:R263Q;ENSP00000418728:R263Q	ENSP00000309968:R263Q	R	-	2	0	ADAM17	9580884	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.717000	0.68446	2.427000	0.82271	0.561000	0.74099	CGG		0.323	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			34	28	0	0	0	1	0	34	28				
HIF1AN	55662	broad.mit.edu	37	10	102300458	102300458	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:102300458A>C	ENST00000299163.6	+	3	596	c.496A>C	c.(496-498)Aac>Cac	p.N166H	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	166	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTTAGGTTTTAACTGGAACTG	0.448																																						ENST00000299163.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10						c.(496-498)Aac>Cac		hypoxia inducible factor 1, alpha subunit inhibitor							168.0	158.0	161.0					10																	102300458		2203	4300	6503	SO:0001583	missense	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102300458A>C	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.496A>C	10.37:g.102300458A>C	ENSP00000299163:p.Asn166His					HIF1AN_ENST00000528044.1_3'UTR	p.N166H	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	3	596	+		Colorectal(252;0.234)	166			Interaction with HIF1A.|Interaction with VHL.|JmjC.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	ENST00000299163.6	37	c.496A>C	CCDS7498.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.825940	0.90955	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	T;T	0.72394	-0.65;-0.65	5.61	5.61	0.85477	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75274	-0.3375	10	0.29301	T	0.29	-27.3597	15.8028	0.78468	1.0:0.0:0.0:0.0	.	166	Q9NWT6	HIF1N_HUMAN	H	59;166;199	ENSP00000433360:N59H;ENSP00000299163:N166H	ENSP00000299163:N166H	N	+	1	0	HIF1AN	102290448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.134000	0.65973	0.459000	0.35465	AAC		0.448	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902		39	7	0	0	0	1	0	39	7				
ACVR1B	91	broad.mit.edu	37	12	52387803	52387803	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52387803G>T	ENST00000257963.4	+	9	1504	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F	ACVR1B_ENST00000542485.1_Missense_Mutation_p.C424F|ACVR1B_ENST00000541224.1_Missense_Mutation_p.C517F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ATGCGAGAGTGTTGGTATGCC	0.607																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1426-1428)tGt>tTt		activin A receptor, type IB	Adenosine triphosphate(DB00171)						145.0	126.0	132.0					12																	52387803		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52387803G>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1427G>T	12.37:g.52387803G>T	ENSP00000257963:p.Cys476Phe					ACVR1B_ENST00000541224.1_Missense_Mutation_p.C517F|ACVR1B_ENST00000542485.1_Missense_Mutation_p.C424F	p.C476F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	9	1504	+			476			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1427G>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061714	0.76187	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000542485	D;D;D	0.95238	-3.65;-3.65;-3.65	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98686	0.9559	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.99679	1.0998	10	0.87932	D	0	.	18.9733	0.92724	0.0:0.0:1.0:0.0	.	517;476	P36896-4;P36896	.;ACV1B_HUMAN	F	476;517;424	ENSP00000257963:C476F;ENSP00000442656:C517F;ENSP00000442885:C424F	ENSP00000257963:C476F	C	+	2	0	ACVR1B	50674070	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.869000	0.99810	2.487000	0.83934	0.467000	0.42956	TGT		0.607	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		59	51	1	0	2.14255e-21	1	2.55065e-21	59	51				
SPTBN5	51332	broad.mit.edu	37	15	42178339	42178339	+	Missense_Mutation	SNP	G	G	A	rs368318926	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:42178339G>A	ENST00000320955.6	-	7	1341	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	372					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTCTGTAGCCGGAAGAGCAGG	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17547	0.0		0.0	False		,,,				2504	0.0					ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1114-1116)Cgg>Tgg		spectrin, beta, non-erythrocytic 5		G	TRP/ARG	1,3971		0,1,1985	16.0	19.0	18.0		1009	1.8	0.3	15		18	1,8283		0,1,4141	no	missense	SPTBN5	NM_016642.2	101	0,2,6126	AA,AG,GG		0.0121,0.0252,0.0163	probably-damaging	337/3640	42178339	2,12254	1986	4142	6128	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178339G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1114C>T	15.37:g.42178339G>A	ENSP00000317790:p.Arg372Trp						p.R372W	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	7	1341	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	372						Missense_Mutation	SNP	ENST00000320955.6	37	c.1114C>T		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643692	0.29246	2.52E-4	1.21E-4	ENSG00000137877	ENST00000320955	T	0.50548	0.74	4.84	1.81	0.25067	.	1.018070	0.07895	N	0.971776	T	0.59945	0.2231	L	0.51422	1.61	0.09310	N	0.999998	D	0.89917	1.0	D	0.68765	0.96	T	0.45175	-0.9279	10	0.66056	D	0.02	.	7.9401	0.29952	0.0805:0.0:0.348:0.5715	.	372	Q9NRC6	SPTN5_HUMAN	W	372	ENSP00000317790:R372W	ENSP00000317790:R372W	R	-	1	2	SPTBN5	39965631	0.625000	0.27111	0.277000	0.24703	0.119000	0.20118	0.619000	0.24388	0.093000	0.17368	-0.140000	0.14226	CGG		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		12	1	0	0	0	1	0	12	1				
OR4C3	256144	broad.mit.edu	37	11	48347056	48347056	+	Silent	SNP	C	C	A	rs558757638	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:48347056C>A	ENST00000319856.4	+	1	585	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCTCCTGGTCCTTTGGTTGC	0.517																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(562-564)gtC>gtA		olfactory receptor, family 4, subfamily C, member 3							167.0	152.0	157.0					11																	48347056		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347056C>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.564C>A	11.37:g.48347056C>A							p.V188V	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	585	+			161					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.564C>A	CCDS31489.1																																																																																				0.517	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		7	83	1	0	1.02788e-11	1	1.18148e-11	7	83				
DICER1	23405	broad.mit.edu	37	14	95557638	95557638	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:95557638T>A	ENST00000526495.1	-	27	5720	c.5429A>T	c.(5428-5430)gAt>gTt	p.D1810V	DICER1_ENST00000343455.3_Missense_Mutation_p.D1810V|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810V|DICER1_ENST00000556045.1_Missense_Mutation_p.D708V|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.D1810V|DICER1_ENST00000541352.1_Intron			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1810	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> H (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> Y (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.D1810A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTCAAAAATATCCCCCATGGC	0.453			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		1	Substitution - Missense(1)	p.D1810A(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5428-5430)gAt>gTt		dicer 1, ribonuclease type III							225.0	231.0	229.0					14																	95557638		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557638T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5429A>T	14.37:g.95557638T>A	ENSP00000437256:p.Asp1810Val					DICER1_ENST00000527414.1_Missense_Mutation_p.D1810V|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810V|DICER1_ENST00000556045.1_Missense_Mutation_p.D708V|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810V|DICER1_ENST00000527416.2_5'UTR	p.D1810V			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	27	5720	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1810			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5429A>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701265	0.88924	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8	5.6	5.6	0.85130	Ribonuclease III (5);	0.050139	0.85682	D	0.000000	D	0.97654	0.9231	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99533	1.0961	10	0.87932	D	0	-24.389	15.7947	0.78401	0.0:0.0:0.0:1.0	.	708;1810	B3KRG4;Q9UPY3	.;DICER_HUMAN	V	1810;1810;1810;1810;708	ENSP00000343745:D1810V;ENSP00000437256:D1810V;ENSP00000376783:D1810V;ENSP00000435681:D1810V;ENSP00000451041:D708V	ENSP00000343745:D1810V	D	-	2	0	DICER1	94627391	1.000000	0.71417	0.913000	0.36048	0.917000	0.54804	7.521000	0.81832	2.106000	0.64143	0.533000	0.62120	GAT		0.453	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			115	122	0	0	0	1	0	115	122				
XDH	7498	broad.mit.edu	37	2	31605884	31605884	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:31605884G>C	ENST00000379416.3	-	11	1069	c.1021C>G	c.(1021-1023)Caa>Gaa	p.Q341E	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	341	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GACTTGACTTGCTTCCCAGCA	0.557																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(1021-1023)Caa>Gaa		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						74.0	68.0	70.0					2																	31605884		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31605884G>C	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1021C>G	2.37:g.31605884G>C	ENSP00000368727:p.Gln341Glu					XDH_ENST00000491727.1_5'UTR	p.Q341E	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			11	1069	-	Acute lymphoblastic leukemia(172;0.155)		341			FAD-binding PCMH-type.		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1021C>G	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843175	0.91197	.	.	ENSG00000158125	ENST00000379416	T	0.28069	1.63	5.65	5.65	0.86999	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82619	-0.0368	10	0.87932	D	0	.	19.3258	0.94261	0.0:0.0:1.0:0.0	.	341	P47989	XDH_HUMAN	E	341	ENSP00000368727:Q341E	ENSP00000368727:Q341E	Q	-	1	0	XDH	31459388	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	9.750000	0.98875	2.668000	0.90789	0.448000	0.29417	CAA		0.557	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		32	22	0	0	0	1	0	32	22				
SYNGR3	9143	broad.mit.edu	37	16	2042103	2042103	+	Silent	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr16:2042103C>G	ENST00000248121.2	+	2	386	c.228C>G	c.(226-228)ctC>ctG	p.L76L	SYNGR3_ENST00000562045.1_5'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	76	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CGCTGGGCCTCGGAGCCTTCC	0.706																																						ENST00000248121.2																			0				endometrium(1)|lung(2)	3						c.(226-228)ctC>ctG		synaptogyrin 3							6.0	6.0	6.0					16																	2042103		2051	4083	6134	SO:0001819	synonymous_variant	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042103C>G	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.228C>G	16.37:g.2042103C>G						SYNGR3_ENST00000562045.1_5'UTR	p.L76L	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN			2	386	+			76			MARVEL.		B2R9S0	Silent	SNP	ENST00000248121.2	37	c.228C>G	CCDS10456.1																																																																																				0.706	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			10	5	0	0	0	1	0	10	5				
PCLO	27445	broad.mit.edu	37	7	82764634	82764634	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:82764634C>T	ENST00000333891.9	-	3	2569	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	PCLO_ENST00000423517.2_Silent_p.Q744Q	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						GGGCCTTGTCCTGCTCAGATG	0.517																																						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.(2230-2232)caG>caA		piccolo presynaptic cytomatrix protein							123.0	114.0	117.0					7																	82764634		1929	4123	6052	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764634C>T	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.2232G>A	7.37:g.82764634C>T						PCLO_ENST00000333891.8_Silent_p.Q744Q	p.Q744Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2569	-			690			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.2232G>A	CCDS47630.1																																																																																				0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	40	0	0	0	1	0	14	40				
KCNA3	3738	broad.mit.edu	37	1	111217391	111217393	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:111217391_111217393delGGC	ENST00000369769.2	-	1	262_264	c.39_41delGCC	c.(37-42)ccgccc>ccc	p.13_14PP>P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	13					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GCGGGCTGAGGGCGGCGGCGGCG	0.768																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(37-42)ccc>cc		potassium voltage-gated channel, shaker-related subfamily, member 3																																				SO:0001651	inframe_deletion	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217391_111217393delGGC	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.39_41delGCC	1.37:g.111217400_111217402delGGC	ENSP00000358784:p.Pro14del						p.PP13del	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	262_264	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	13					Q5VWN2	In_Frame_Del	DEL	ENST00000369769.2	37	c.39_41delGCC	CCDS828.2																																																																																				0.768	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		2	4						2	4	---	---	---	---
RP11-444A22.1	0	broad.mit.edu	37	2	60303300	60303301	+	lincRNA	DEL	AC	AC	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:60303300_60303301delAC	ENST00000606382.1	-	0	110																											gaacacatggacacagggaggg	0.5																																						ENST00000606382.1																			0																																																			0							g.chr2:60303300_60303301delAC																													2.37:g.60303302_60303303delAC														0	110	-									RNA	DEL	ENST00000606382.1	37																																																																																						0.500	RP11-444A22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470681.1			2	4						2	4	---	---	---	---
RP11-550I24.2	0	broad.mit.edu	37	3	156916153	156916153	+	RNA	DEL	A	A	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:156916153delA	ENST00000488040.1	+	0	43				RP11-550I24.2_ENST00000487238.1_RNA																							ctcatgttctaaaattgtgca	0.378																																						ENST00000488040.1																			0																																																			0							g.chr3:156916153delA																													3.37:g.156916153delA						RP11-550I24.2_ENST00000487238.1_RNA								0	43	+									RNA	DEL	ENST00000488040.1	37																																																																																						0.378	RP11-550I24.2-003	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000352025.1			2	4						2	4	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-	rs142849558		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	164	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ACACAGGCCCctgctgctgctgc	0.665																																						ENST00000296327.5																			0											c.(475-480)ccc>cc		solute carrier family 51, alpha subunit				166,4098		0,166,1966						5.5	1.0		dbSNP_134	89	364,7890		0,364,3763	no	coding	OSTalpha	NM_152672.5		0,530,5729	A1A1,A1R,RR		4.41,3.8931,4.2339				530,11988				SO:0001651	inframe_deletion	200931							g.chr3:195955100_195955102delCTG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.477_479delCTG	3.37:g.195955109_195955111delCTG	ENSP00000296327:p.Cys164del						p.PC159del	NM_152672.5	NP_689885.4					5	686_688	+								Q6ZMC7	In_Frame_Del	DEL	ENST00000296327.5	37	c.477_479delCTG	CCDS3314.1																																																																																				0.665	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		7	201						7	201	---	---	---	---
LOC728339	728339	broad.mit.edu	37	4	190767268	190767268	+	lincRNA	DEL	C	C	-	rs79051841|rs371312217		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:190767268delC	ENST00000511785.1	-	0	425																											ATTCTCCGTGCCGTGTCCCTC	0.627																																						ENST00000511785.1																			0																																																			0							g.chr4:190767268delC																													4.37:g.190767268delC														0	425	-									RNA	DEL	ENST00000511785.1	37																																																																																						0.627	AF146191.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000361301.1			2	4						2	4	---	---	---	---
RP1-290I10.3	0	broad.mit.edu	37	6	10423824	10423825	+	lincRNA	INS	-	-	TGTG	rs367866653|rs368577303|rs61052278|rs56869942		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:10423824_10423825insTGTG	ENST00000420389.1	-	0	175																											TGGAGAACTGCtgtgtgtgtgt	0.49																																						ENST00000420389.1																			0																																																			0							g.chr6:10423824_10423825insTGTG																													6.37:g.10423829_10423832dupTGTG														0	175	-									RNA	INS	ENST00000420389.1	37																																																																																						0.490	RP1-290I10.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000039808.1			2	4						2	4	---	---	---	---
RP11-706C16.8	0	broad.mit.edu	37	8	143889647	143889649	+	RNA	DEL	GCA	GCA	-	rs200846258		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr8:143889647_143889649delGCA	ENST00000510610.2	+	0	216																											GGGCAGGGTCGCAGCAGCAGCAG	0.631																																						ENST00000510610.2																			0																																																			0							g.chr8:143889647_143889649delGCA																													8.37:g.143889656_143889658delGCA														0	216	+									RNA	DEL	ENST00000510610.2	37																																																																																						0.631	RP11-706C16.8-001	KNOWN	basic	antisense	antisense	OTTHUMT00000379715.1			2	4						2	4	---	---	---	---
ATP8B5P	158381	broad.mit.edu	37	9	35450411	35450411	+	RNA	DEL	T	T	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:35450411delT	ENST00000430846.1	+	0	3261									ATPase, class I, type 8B, member 5, pseudogene																		TGACTTGAGGTTTTTTTTTCC	0.343																																						ENST00000430846.1																			0																																																			0							g.chr9:35450411delT			9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450411delT														0	3261	+									RNA	DEL	ENST00000430846.1	37																																																																																						0.343	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1	NR_003581.1		2	4						2	4	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66462287	66462288	+	lincRNA	INS	-	-	A	rs374183996		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:66462287_66462288insA	ENST00000424345.1	+	0	224																											gggctttttgggggttggtagg	0.391																																						ENST00000424345.1																			0																																																			0							g.chr9:66462287_66462288insA																													9.37:g.66462287_66462288insA														0	224	+									RNA	INS	ENST00000424345.1	37																																																																																						0.391	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			2	4						2	4	---	---	---	---
IL18BP	10068	broad.mit.edu	37	11	71712330	71712332	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:71712330_71712332delATT	ENST00000393703.4	+	4	856_858	c.319_321delATT	c.(319-321)attdel	p.I107del	IL18BP_ENST00000393705.4_In_Frame_Del_p.I107del|IL18BP_ENST00000404792.1_In_Frame_Del_p.I107del|IL18BP_ENST00000497194.2_In_Frame_Del_p.I107del|IL18BP_ENST00000531053.1_In_Frame_Del_p.I107del|IL18BP_ENST00000260049.5_In_Frame_Del_p.I107del|IL18BP_ENST00000337131.5_In_Frame_Del_p.I107del|IL18BP_ENST00000393707.4_Intron	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	107	Ig-like C2-type.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TGGTTCCTTCATTGAGCACCTCC	0.611																																						ENST00000497194.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(319-321)del		interleukin 18 binding protein																																				SO:0001651	inframe_deletion	10068				T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity	g.chr11:71712330_71712332delATT	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.319_321delATT	11.37:g.71712330_71712332delATT	ENSP00000377306:p.Ile107del					IL18BP_ENST00000260049.5_In_Frame_Del_p.I107del|IL18BP_ENST00000393703.4_In_Frame_Del_p.I107del|IL18BP_ENST00000531053.1_In_Frame_Del_p.I107del|IL18BP_ENST00000393705.4_In_Frame_Del_p.I107del|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000337131.5_In_Frame_Del_p.I107del|IL18BP_ENST00000404792.1_In_Frame_Del_p.I107del	p.I107del			O95998	I18BP_HUMAN			3	1691_1693	+			107			Ig-like C2-type.		B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	In_Frame_Del	DEL	ENST00000393703.4	37	c.319_321delATT	CCDS8206.2																																																																																				0.611	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		30	26						30	26	---	---	---	---
AP002954.4	0	broad.mit.edu	37	11	118580965	118580966	+	RNA	INS	-	-	TTTA	rs200566135|rs369517414|rs139437602	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:118580965_118580966insTTTA	ENST00000526274.1	+	0	374																											agccCCCCGACtttatttttga	0.53														936	0.186901	0.0658	0.1715	5008	,	,		16194	0.1984		0.2326	False		,,,				2504	0.3027					ENST00000526274.1																			0																																																			0							g.chr11:118580965_118580966insTTTA																													11.37:g.118580966_118580969dupTTTA														0	374	+									RNA	INS	ENST00000526274.1	37																																																																																						0.530	AP002954.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000389307.1			3	3						3	3	---	---	---	---
BMS1P17	101101776	broad.mit.edu	37	14	19891054	19891055	+	lincRNA	DEL	CT	CT	-	rs140164336|rs551572327|rs147794535		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:19891054_19891055delCT	ENST00000552602.1	-	0	293																											tacacacacactcacactaaca	0.525																																						ENST00000552602.1																			0																																																			0							g.chr14:19891054_19891055delCT																													14.37:g.19891054_19891055delCT														0	293	-									RNA	DEL	ENST00000552602.1	37																																																																																						0.525	CTD-2314B22.3-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409412.1			4	6						4	6	---	---	---	---
RP3-514A23.2	0	broad.mit.edu	37	14	73041049	73041049	+	lincRNA	DEL	G	G	-	rs180784845	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:73041049delG	ENST00000555303.1	-	0	451																											GCCTCCTCCCGCCCCCTCCAC	0.592																																						ENST00000555303.1																			0																																																			0							g.chr14:73041049delG																													14.37:g.73041049delG														0	451	-									RNA	DEL	ENST00000555303.1	37																																																																																						0.592	RP3-514A23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000413047.1			2	4						2	4	---	---	---	---
RP11-44L9.1	0	broad.mit.edu	37	16	73517967	73517967	+	lincRNA	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr16:73517967delG	ENST00000557393.1	+	0	117																											AGGAGGGTCCGGGGGGAAGAG	0.517																																						ENST00000557393.1																			0																																																			0							g.chr16:73517967delG																													16.37:g.73517967delG														0	117	+									RNA	DEL	ENST00000557393.1	37																																																																																						0.517	RP11-44L9.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000410605.1			2	4						2	4	---	---	---	---
ANKFY1	51479	broad.mit.edu	37	17	4071081	4071086	+	In_Frame_Del	DEL	CCCCAC	CCCCAC	-	rs189564576	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:4071081_4071086delCCCCAC	ENST00000341657.4	-	25	3532_3537	c.3497_3502delGTGGGG	c.(3496-3504)ggtggggtt>gtt	p.GG1166del	ANKFY1_ENST00000570535.1_In_Frame_Del_p.GG1208del|ANKFY1_ENST00000574367.1_In_Frame_Del_p.GG1167del|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1166					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACTAAGAAACCCCACCCAGAGTCAG	0.544																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3496-3504)gtt>g		ankyrin repeat and FYVE domain containing 1																																				SO:0001651	inframe_deletion	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4071081_4071086delCCCCAC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3497_3502delGTGGGG	17.37:g.4071081_4071086delCCCCAC	ENSP00000343362:p.Gly1166_Gly1167del					ANKFY1_ENST00000574367.1_In_Frame_Del_p.GGV1167del|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_In_Frame_Del_p.GGV1208del	p.GGV1166del	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			25	3532_3537	-			1166					A8KA65|Q5RKV4|Q9ULG5	In_Frame_Del	DEL	ENST00000341657.4	37	c.3497_3502delGTGGGG																																																																																					0.544	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		19	4						19	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577134	7577134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577134delG	ENST00000269305.4	-	8	993	c.804delC	c.(802-804)aacfs	p.N268fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N268fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N268fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	268	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.N268N(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTCAAAGCTGTTCCGTCCCA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		22	Deletion - In frame(8)|Whole gene deletion(8)|Unknown(2)|Substitution - coding silent(2)|Deletion - Frameshift(2)	p.0?(8)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.N268N(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|urinary_tract(1)|oesophagus(1)|breast(1)|eye(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(802-804)aafs	Other conserved DNA damage response genes	tumor protein p53							56.0	50.0	52.0					17																	7577134		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577134delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.804delC	17.37:g.7577134delG	ENSP00000269305:p.Asn268fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.N268fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N268fs	p.N268fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	268		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.804delC	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	2						16	2	---	---	---	---
RP1-41C23.1	0	broad.mit.edu	37	17	29921885	29921886	+	lincRNA	INS	-	-	TTGT	rs200574477|rs139893247|rs57055387	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:29921885_29921886insTTGT	ENST00000578650.1	+	0	232																											AAGGCtgtttgttgtttgtttg	0.485																																						ENST00000578650.1																			0																																																			0							g.chr17:29921885_29921886insTTGT																													17.37:g.29921890_29921893dupTTGT														0	232	+									RNA	INS	ENST00000578650.1	37																																																																																						0.485	RP1-41C23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444996.2			4	2						4	2	---	---	---	---
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs11468351|rs5839847|rs6147263	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccggcg>ccg	p.A159del		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	159	Poly-Ala.						poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768														4335	0.865615	0.8343	0.9395	5008	,	,		8937	0.8065		0.9423	False		,,,				2504	0.8374					ENST00000382352.3																			3	Deletion - In frame(3)	p.A159delA(3)	prostate(2)|large_intestine(1)	endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(460-465)ccg>c		zinc finger, CCHC domain containing 3																																				SO:0001651	inframe_deletion	85364						nucleic acid binding|zinc ion binding	g.chr20:278688_278690delCGG	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.461_463delCGG	20.37:g.278697_278699delCGG	ENSP00000371789:p.Ala159del						p.PA154del	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	952_954	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	154					Q3B7J3|Q6NT79	In_Frame_Del	DEL	ENST00000382352.3	37	c.461_463delCGG	CCDS42844.1																																																																																				0.768	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			4	3						4	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11057307	11057308	+	RNA	INS	-	-	A	rs397805260|rs79091593|rs60256560|rs76234576		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:11057307_11057308insA	ENST00000470054.1	-	0	487							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)		GAGAAGATAGGAAAAAAAGCTT	0.342																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11057307_11057308insA	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.11057314_11057314dupA												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	487	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.342	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11062428	11062429	+	RNA	DEL	TG	TG	-	rs113753618|rs60883181|rs11184003		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:11062428_11062429delTG	ENST00000470054.1	-	0	324							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)		CATTTATGTATGTGTGTGTGTG	0.297																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11062428_11062429delTG	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.11062438_11062439delTG												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	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.297	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101912011	101912011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:101912011delG	ENST00000361600.5	+	5	3971	c.3170delG	c.(3169-3171)tggfs	p.W1057fs	GPRASP1_ENST00000537097.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.W1057fs|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1057	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGGTCCATGGGGTAGGGTC	0.517																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3169-3171)tgfs		G protein-coupled receptor associated sorting protein 1							127.0	124.0	125.0					X																	101912011		2203	4300	6503	SO:0001589	frameshift_variant	9737					cytoplasm	protein binding	g.chrX:101912011delG	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3170delG	X.37:g.101912011delG	ENSP00000355146:p.Trp1057fs					GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000361600.5_Frame_Shift_Del_p.W1057fs|RP4-769N13.7_ENST00000602441.1_RNA	p.W1057fs	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3983	+			1057			OPRD1-binding.		O43168|Q96LA1	Frame_Shift_Del	DEL	ENST00000361600.5	37	c.3170delG	CCDS35352.1																																																																																				0.517	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		104	135						104	135	---	---	---	---
