#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
RBAK	57786	broad.mit.edu	37	7	5097370	5097370	+	Silent	SNP	G	G	A	rs576821880		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:5097370G>A	ENST00000353796.3	+	5	522	c.198G>A	c.(196-198)ccG>ccA	p.P66P	RBAK_ENST00000396912.1_Silent_p.P66P|RBAK-RBAKDN_ENST00000396904.2_Silent_p.P66P|RBAK-RBAKDN_ENST00000407184.1_Silent_p.P66P	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAGGAGCCGTGGATAATGG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19558	0.001		0.0	False		,,,				2504	0.0					ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(196-198)ccG>ccA		RB-associated KRAB zinc finger							161.0	139.0	147.0					7																	5097370		2203	4300	6503	SO:0001819	synonymous_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5097370G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.198G>A	7.37:g.5097370G>A						RBAK_ENST00000353796.3_Silent_p.P66P|RBAK_ENST00000407184.1_Silent_p.P66P|RBAK_ENST00000396904.2_Silent_p.P66P	p.P66P	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	4	717	+		Ovarian(82;0.0175)	66			KRAB.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	c.198G>A	CCDS5337.1																																																																																				0.453	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		19	94	0	0	0	1	0	19	94				
MICAL2	9645	broad.mit.edu	37	11	12265567	12265567	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:12265567C>A	ENST00000256194.4	+	21	2980	c.2692C>A	c.(2692-2694)Cat>Aat	p.H898N	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.H898N|MICAL2_ENST00000379612.3_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	898					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTCTCATACTCATCCTCCATC	0.473																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(2692-2694)Cat>Aat		microtubule associated monooxygenase, calponin and LIM domain containing 2							407.0	342.0	364.0					11																	12265567		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12265567C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2692C>A	11.37:g.12265567C>A	ENSP00000256194:p.His898Asn					MICAL2_ENST00000342902.5_Missense_Mutation_p.H898N|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron	p.H898N	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	21	2980	+			898					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2692C>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124535	0.37533	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.60548	0.18;0.19	5.23	5.23	0.72850	.	1.309430	0.05112	N	0.489022	T	0.49915	0.1585	N	0.24115	0.695	0.80722	D	1	B;B	0.25609	0.13;0.039	B;B	0.21360	0.034;0.01	T	0.08911	-1.0699	10	0.15066	T	0.55	.	18.7697	0.91887	0.0:1.0:0.0:0.0	.	898;898	G3XAC8;O94851	.;MICA2_HUMAN	N	898	ENSP00000256194:H898N;ENSP00000344894:H898N	ENSP00000256194:H898N	H	+	1	0	MICAL2	12222143	0.991000	0.36638	0.186000	0.23195	0.625000	0.37756	3.690000	0.54713	2.596000	0.87737	0.563000	0.77884	CAT		0.473	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		25	166	1	0	3.01185e-09	1	3.16032e-09	25	166				
CDH9	1007	broad.mit.edu	37	5	26885757	26885757	+	Silent	SNP	G	G	A	rs541154525		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:26885757G>A	ENST00000231021.4	-	11	2020	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	616					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAATCGCAACGAGAGCTCCCG	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14201	0.0		0.0	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1846-1848)ctC>ctT		cadherin 9, type 2 (T1-cadherin)							78.0	66.0	70.0					5																	26885757		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885757G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1848C>T	5.37:g.26885757G>A							p.L616L	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	2020	-			616					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1848C>T	CCDS3893.1																																																																																				0.512	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		12	22	0	0	0	1	0	12	22				
GABRA1	2554	broad.mit.edu	37	5	161302579	161302579	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:161302579G>A	ENST00000428797.2	+	7	845	c.490G>A	c.(490-492)Gct>Act	p.A164T	GABRA1_ENST00000444819.1_Missense_Mutation_p.A164T|GABRA1_ENST00000393943.4_Missense_Mutation_p.A164T|GABRA1_ENST00000420560.1_Missense_Mutation_p.A164T|GABRA1_ENST00000023897.6_Missense_Mutation_p.A164T|GABRA1_ENST00000437025.2_Missense_Mutation_p.A164T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	164					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	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)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GACAGTGAGAGCTGAATGTCC	0.373																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(490-492)Gct>Act		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						178.0	173.0	175.0					5																	161302579		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161302579G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.490G>A	5.37:g.161302579G>A	ENSP00000393097:p.Ala164Thr					GABRA1_ENST00000437025.2_Missense_Mutation_p.A164T|GABRA1_ENST00000444819.1_Missense_Mutation_p.A164T|GABRA1_ENST00000023897.6_Missense_Mutation_p.A164T|GABRA1_ENST00000420560.1_Missense_Mutation_p.A164T|GABRA1_ENST00000393943.4_Missense_Mutation_p.A164T	p.A164T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	7	845	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	164					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.490G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349686	0.95830	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.117860	0.56097	D	0.000025	D	0.92061	0.7484	M	0.92555	3.32	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.93539	0.6876	10	0.66056	D	0.02	.	19.094	0.93242	0.0:0.0:1.0:0.0	.	164	P14867	GBRA1_HUMAN	T	164	ENSP00000023897:A164T;ENSP00000393097:A164T;ENSP00000377517:A164T;ENSP00000415441:A164T;ENSP00000408041:A164T;ENSP00000414232:A164T	ENSP00000023897:A164T	A	+	1	0	GABRA1	161235157	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.746000	0.98859	2.595000	0.87683	0.650000	0.86243	GCT		0.373	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		13	62	0	0	0	1	0	13	62				
HS6ST1	9394	broad.mit.edu	37	2	129026288	129026288	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:129026288C>T	ENST00000259241.6	-	2	697	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	228					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGACCAGTCCGTGCCCTCGT	0.662																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(682-684)acG>acA		heparan sulfate 6-O-sulfotransferase 1							42.0	53.0	49.0					2																	129026288		2162	4275	6437	SO:0001819	synonymous_variant	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026288C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.684G>A	2.37:g.129026288C>T							p.T228T	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	697	-	Colorectal(110;0.1)		228					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Silent	SNP	ENST00000259241.6	37	c.684G>A	CCDS42748.1																																																																																				0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		5	67	0	0	0	1	0	5	67				
ZNF347	84671	broad.mit.edu	37	19	53644779	53644779	+	Silent	SNP	G	G	A	rs77716783	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:53644779G>A	ENST00000334197.7	-	5	1370	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.C435C|ZNF347_ENST00000601469.2_Silent_p.C435C	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423													G|||	6	0.00119808	0.0	0.0	5008	,	,		22122	0.005		0.001	False		,,,				2504	0.0				Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1303-1305)tgC>tgT		zinc finger protein 347		G	,,	0,4406		0,0,2203	130.0	130.0	130.0		1305,1305,1302	0.6	0.0	19	dbSNP_132	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	435/841,435/841,434/840	53644779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644779G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1302C>T	19.37:g.53644779G>A						ZNF347_ENST00000334197.7_Silent_p.C434C|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C435C	p.C435C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1731	-			434					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1305C>T	CCDS33097.1																																																																																				0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		48	87	0	0	0	1	0	48	87				
USP11	8237	broad.mit.edu	37	X	47101692	47101692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47101692G>A	ENST00000218348.3	+	10	1520	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	USP11_ENST00000377107.2_Missense_Mutation_p.R464H	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	507	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATCCGCGCCGCAAGCCAGAG	0.542																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1390-1392)cGc>cAc		ubiquitin specific peptidase 11							34.0	32.0	33.0					X																	47101692		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101692G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1520G>A	X.37:g.47101692G>A	ENSP00000218348:p.Arg507His					USP11_ENST00000218348.3_Missense_Mutation_p.R507H	p.R464H			P51784	UBP11_HUMAN			10	1745	+			507					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1391G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880619	0.51801	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21932	1.99;1.98	5.6	4.74	0.60224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.237058	0.37393	N	0.002111	T	0.27629	0.0679	L	0.33668	1.02	0.36297	D	0.856786	D;D	0.76494	0.99;0.999	P;P	0.62491	0.86;0.903	T	0.11518	-1.0584	10	0.31617	T	0.26	-20.7792	8.7969	0.34885	0.1696:0.0:0.8304:0.0	.	234;507	B3KP28;P51784	.;UBP11_HUMAN	H	464;507	ENSP00000366311:R464H;ENSP00000218348:R507H	ENSP00000218348:R507H	R	+	2	0	USP11	46986636	0.004000	0.15560	1.000000	0.80357	0.980000	0.70556	1.027000	0.30115	2.346000	0.79739	0.600000	0.82982	CGC		0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		13	39	0	0	0	1	0	13	39				
ROS1	6098	broad.mit.edu	37	6	117715330	117715330	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:117715330C>T	ENST00000368508.3	-	10	1357	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	ROS1_ENST00000368507.3_Missense_Mutation_p.E396K|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	387					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTAACCAGTTCATCCATGATG	0.328			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(1159-1161)Gaa>Aaa		c-ros oncogene 1 , receptor tyrosine kinase							48.0	50.0	49.0					6																	117715330		2202	4298	6500	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117715330C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1159G>A	6.37:g.117715330C>T	ENSP00000357494:p.Glu387Lys					ROS1_ENST00000368507.3_Missense_Mutation_p.E396K|GOPC_ENST00000467125.1_Intron	p.E387K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	10	1357	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	387					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1159G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138452	0.37728	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91124	-2.79;-2.79	5.12	0.107	0.14544	.	0.559851	0.18017	N	0.154371	T	0.61813	0.2377	N	0.22421	0.69	0.49213	D	0.999764	B	0.06786	0.001	B	0.04013	0.001	T	0.51795	-0.8660	10	0.07482	T	0.82	.	5.1316	0.14913	0.0:0.4468:0.2577:0.2954	.	387	P08922	ROS1_HUMAN	K	387;396	ENSP00000357494:E387K;ENSP00000357493:E396K	ENSP00000357493:E396K	E	-	1	0	ROS1	117822023	0.997000	0.39634	0.640000	0.29408	0.967000	0.64934	1.296000	0.33389	-0.100000	0.12241	-0.172000	0.13284	GAA		0.328	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			3	32	0	0	0	1	0	3	32				
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD972119	CDKN2A	D		c.(358-360)Gag>Tag		cyclin-dependent kinase inhibitor 2A							24.0	27.0	26.0					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971000C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR	p.E120*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	628	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	120		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.358G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	22	1	0	3.41278e-10	1	3.60642e-10	18	22				
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418													a|||	3114	0.621805	0.9054	0.4813	5008	,	,		19471	0.7599		0.2773	False		,,,				2504	0.5501					ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1390-1392)cAt>cGt		zinc finger protein 860							22.0	58.0	48.0					3																	32031962		627	1568	2195	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031962A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1391A>G	3.37:g.32031962A>G	ENSP00000373274:p.His464Arg						p.H464R	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1940	+			464					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1391A>G	CCDS46784.1	991	0.45375457875457875	324	0.6585365853658537	145	0.4005524861878453	368	0.6433566433566433	154	0.20316622691292877	a	0.169	-1.073378	0.01918	.	.	ENSG00000197385	ENST00000360311	T	0.17370	2.28	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.42032	-0.9475	7	.	.	.	.	4.0852	0.09943	0.2146:0.4157:0.3696:0.0	rs1808125;rs60384157	464	A6NHJ4	ZN860_HUMAN	R	464	ENSP00000373274:H464R	.	H	+	2	0	ZNF860	32006966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-3.961000	0.00087	-3.988000	0.00014	CAT		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			4	58	0	0	0	1	0	4	58				
MCF2L	23263	broad.mit.edu	37	13	113728844	113728844	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:113728844G>A	ENST00000375608.3	+	11	1231	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	MCF2L_ENST00000397030.1_Silent_p.L394L|MCF2L_ENST00000375604.2_Silent_p.L418L|MCF2L_ENST00000442652.2_Silent_p.L391L|MCF2L_ENST00000421756.1_Silent_p.L365L|MCF2L_ENST00000434480.2_Silent_p.L367L|MCF2L_ENST00000535094.2_Silent_p.L361L|MCF2L_ENST00000423482.2_Silent_p.L359L|MCF2L_ENST00000375601.3_Silent_p.L365L|MCF2L_ENST00000375597.4_Silent_p.L359L			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	391					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCTGCTGAGGGACCTGG	0.617																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1180-1182)ctG>ctA		MCF.2 cell line derived transforming sequence-like							70.0	69.0	69.0					13																	113728844		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113728844G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1173G>A	13.37:g.113728844G>A						MCF2L_ENST00000442652.2_Silent_p.L391L|MCF2L_ENST00000375608.3_Silent_p.L391L|MCF2L_ENST00000423482.2_Silent_p.L359L|MCF2L_ENST00000375604.2_Silent_p.L418L|MCF2L_ENST00000375601.3_Silent_p.L365L|MCF2L_ENST00000535094.2_Silent_p.L361L|MCF2L_ENST00000375597.4_Silent_p.L359L|MCF2L_ENST00000434480.2_Silent_p.L367L|MCF2L_ENST00000421756.1_Silent_p.L365L	p.L394L			O15068	MCF2L_HUMAN			10	1219	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	391					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1182G>A		.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352262	0.05173	.	.	ENSG00000126217	ENST00000397017	.	.	.	4.77	3.01	0.34805	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49661	-0.8916	4	.	.	.	.	6.3081	0.21149	0.157:0.0:0.6982:0.1448	.	.	.	.	K	22	.	.	E	+	1	0	MCF2L	112776845	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	1.716000	0.37981	1.000000	0.39049	-0.136000	0.14681	GAG		0.617	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			8	60	0	0	0	1	0	8	60				
NLGN4X	57502	broad.mit.edu	37	X	5821173	5821173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:5821173C>T	ENST00000381095.3	-	5	2173	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	NLGN4X_ENST00000538097.1_Missense_Mutation_p.D516N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D536N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D516N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D516N	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	516					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGCATGACGTCGTTCTTGGAA	0.537																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1546-1548)Gac>Aac		neuroligin 4, X-linked							126.0	100.0	109.0					X																	5821173		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821173C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1546G>A	X.37:g.5821173C>T	ENSP00000370485:p.Asp516Asn					NLGN4X_ENST00000538097.1_Missense_Mutation_p.D516N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D516N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D536N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D516N	p.D516N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			5	2173	-			516					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1546G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173696	0.78452	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	3.8	3.8	0.43715	Carboxylesterase, type B (1);	.	.	.	.	T	0.78155	0.4239	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.83160	-0.0099	9	0.87932	D	0	.	14.2389	0.65945	0.0:1.0:0.0:0.0	.	573;516;536	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	N	516;536;516;516;516	ENSP00000370485:D516N;ENSP00000370483:D536N;ENSP00000275857:D516N;ENSP00000370482:D516N;ENSP00000439203:D516N	ENSP00000275857:D516N	D	-	1	0	NLGN4X	5831173	1.000000	0.71417	0.466000	0.27168	0.783000	0.44284	6.722000	0.74735	1.512000	0.48834	0.513000	0.50165	GAC		0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		37	101	0	0	0	1	0	37	101				
NBPF9	400818	broad.mit.edu	37	1	144828615	144828615	+	Missense_Mutation	SNP	C	C	A	rs587618048		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:144828615C>A	ENST00000281815.8	+	13	1201	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	NBPF9_ENST00000338347.4_Missense_Mutation_p.P554Q|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	812						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TATTCTACTCCGTCAATGTAC	0.453																																						ENST00000338347.4																			0				NS(2)|prostate(1)	3						c.(1660-1662)cCg>cAg		neuroblastoma breakpoint family, member 9							86.0	81.0	83.0					1																	144828615		692	1591	2283	SO:0001583	missense	400818							g.chr1:144828615C>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.455C>A	1.37:g.144828615C>A	ENSP00000281815:p.Pro152Gln					NBPF9_ENST00000281815.8_Missense_Mutation_p.P152Q|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR	p.P554Q							14	1661	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1661C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.86|10.86	1.469298|1.469298	0.26423|0.26423	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000338347;ENST00000281815|ENST00000375552	T;T|.	0.09817|.	2.94;2.94|.	0.618|0.618	0.618|0.618	0.17624|0.17624	.|.	.|.	.|.	.|.	.|.	T|T	0.15305|0.15305	0.0369|0.0369	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D;P;P;D|.	0.89917|.	0.999;0.998;0.52;0.898;1.0|.	D;D;B;P;D|.	0.97110|.	0.992;0.986;0.258;0.627;1.0|.	T|T	0.25882|0.25882	-1.0119|-1.0119	7|3	0.37606|.	T|.	0.19|.	.|.	.|.	.|.	.|.	.|.	618;214;785;560;627|.	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.;.|.	Q|S	554;152|628	ENSP00000342975:P554Q;ENSP00000281815:P152Q|.	ENSP00000281815:P152Q|.	P|R	+|+	2|1	0|0	NBPF9|NBPF9	143539972|143539972	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.005000|0.005000	0.04900|0.04900	-0.620000|-0.620000	0.05565|0.05565	0.615000|0.615000	0.30124|0.30124	0.194000|0.194000	0.17425|0.17425	CCG|CGT		0.453	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		18	247	1	0	4.96729e-08	1	5.17571e-08	18	247				
KDM5A	5927	broad.mit.edu	37	12	406330	406330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:406330G>A	ENST00000399788.2	-	25	4473	c.4111C>T	c.(4111-4113)Ccc>Tcc	p.P1371S	KDM5A_ENST00000382815.4_Missense_Mutation_p.P1371S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1371					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AAAAGATTGGGTTCAAGACTA	0.413			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(4111-4113)Ccc>Tcc		lysine (K)-specific demethylase 5A							69.0	68.0	68.0					12																	406330		1860	4104	5964	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:406330G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4111C>T	12.37:g.406330G>A	ENSP00000382688:p.Pro1371Ser					KDM5A_ENST00000382815.4_Missense_Mutation_p.P1371S	p.P1371S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			25	4473	-			1371					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.4111C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349228	0.82132	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.84442	-1.85;-1.66	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88742	0.6519	L	0.29908	0.895	0.53005	D	0.999961	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	D	0.88793	0.3279	10	0.49607	T	0.09	-9.943	19.6005	0.95560	0.0:0.0:1.0:0.0	.	1371;1371	P29375;P29375-2	KDM5A_HUMAN;.	S	1371	ENSP00000382688:P1371S;ENSP00000372265:P1371S	ENSP00000372265:P1371S	P	-	1	0	KDM5A	276591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.339000	0.90041	2.634000	0.89283	0.655000	0.94253	CCC		0.413	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		24	25	0	0	0	1	0	24	25				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	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	6	88	0	0	0	1	0	6	88				
ZNFX1	57169	broad.mit.edu	37	20	47864939	47864939	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:47864939G>C	ENST00000396105.1	-	14	4868	c.4622C>G	c.(4621-4623)aCt>aGt	p.T1541S	ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1541S|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1541							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGCAGCTTAGTACAAGGCAC	0.572																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4621-4623)aCt>aGt		zinc finger, NFX1-type containing 1							91.0	94.0	93.0					20																	47864939		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864939G>C	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4622C>G	20.37:g.47864939G>C	ENSP00000379412:p.Thr1541Ser					ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1541S	p.T1541S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4868	-			1541					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4622C>G	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	1.865	-0.461595	0.04508	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.51325	0.71;0.71	6.04	5.09	0.68999	.	0.175429	0.49916	D	0.000131	T	0.29491	0.0735	N	0.11724	0.165	0.35700	D	0.815555	B	0.14438	0.01	B	0.10450	0.005	T	0.24870	-1.0148	10	0.10902	T	0.67	-18.2041	15.475	0.75471	0.0:0.0:0.8602:0.1398	.	1541	Q9P2E3	ZNFX1_HUMAN	S	1541	ENSP00000360817:T1541S;ENSP00000379412:T1541S	ENSP00000360817:T1541S	T	-	2	0	ZNFX1	47298346	0.702000	0.27816	1.000000	0.80357	0.997000	0.91878	1.772000	0.38552	1.554000	0.49487	0.561000	0.74099	ACT		0.572	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		61	83	0	0	0	1	0	61	83				
ITGB1	3688	broad.mit.edu	37	10	33208820	33208820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:33208820C>T	ENST00000396033.2	-	11	1597	c.1462G>A	c.(1462-1464)Gcg>Acg	p.A488T	ITGB1_ENST00000302278.3_Missense_Mutation_p.A488T|ITGB1_ENST00000374956.4_Missense_Mutation_p.A488T|ITGB1_ENST00000423113.1_Missense_Mutation_p.A488T	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	488	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TACCTGCACGCGCCACACTCA	0.453																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1462-1464)Gcg>Acg		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							99.0	85.0	90.0					10																	33208820		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33208820C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1462G>A	10.37:g.33208820C>T	ENSP00000379350:p.Ala488Thr					ITGB1_ENST00000302278.3_Missense_Mutation_p.A488T|ITGB1_ENST00000423113.1_Missense_Mutation_p.A488T|ITGB1_ENST00000374956.4_Missense_Mutation_p.A488T	p.A488T	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			11	1597	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	488			Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1462G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058649	0.93846	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.99	4.99	0.66335	.	0.050603	0.85682	D	0.000000	T	0.69984	0.3172	L	0.33093	0.98	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.984;0.998;0.985;0.999	P;P;D;B;D	0.65140	0.79;0.621;0.93;0.341;0.932	T	0.71481	-0.4580	10	0.49607	T	0.09	.	18.6414	0.91397	0.0:1.0:0.0:0.0	.	488;488;488;488;488	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	T	488	ENSP00000379350:A488T;ENSP00000388694:A488T;ENSP00000303351:A488T;ENSP00000364094:A488T	ENSP00000303351:A488T	A	-	1	0	ITGB1	33248826	1.000000	0.71417	0.668000	0.29813	0.752000	0.42762	7.573000	0.82421	2.469000	0.83416	0.460000	0.39030	GCG		0.453	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		10	70	0	0	0	1	0	10	70				
ZCCHC13	389874	broad.mit.edu	37	X	73524500	73524500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:73524500C>A	ENST00000339534.2	+	1	476	c.399C>A	c.(397-399)tgC>tgA	p.C133*		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	133							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C133C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GTTACCGATGCGGCGAGATTG	0.552																																						ENST00000339534.2																			1	Substitution - coding silent(1)	p.C133C(1)	kidney(1)	breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						c.(397-399)tgC>tgA		zinc finger, CCHC domain containing 13							70.0	56.0	61.0					X																	73524500		2203	4300	6503	SO:0001587	stop_gained	389874						nucleic acid binding|zinc ion binding	g.chrX:73524500C>A	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.399C>A	X.37:g.73524500C>A	ENSP00000345633:p.Cys133*						p.C133*	NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN			1	476	+			133						Nonsense_Mutation	SNP	ENST00000339534.2	37	c.399C>A	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050837	0.36181	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	0.197	0.15164	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1439	0.20275	0.0:0.3437:0.0:0.6563	.	.	.	.	X	133	.	ENSP00000345633:C133X	C	+	3	2	ZCCHC13	73441225	1.000000	0.71417	0.771000	0.31576	0.085000	0.17905	1.908000	0.39907	-0.017000	0.14103	-0.513000	0.04457	TGC		0.552	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		27	67	1	0	2.48779e-11	1	2.66677e-11	27	67				
DICER1	23405	broad.mit.edu	37	14	95570037	95570037	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:95570037G>A	ENST00000526495.1	-	23	3987	c.3696C>T	c.(3694-3696)agC>agT	p.S1232S	DICER1_ENST00000527414.1_Silent_p.S1232S|DICER1_ENST00000343455.3_Silent_p.S1232S|DICER1_ENST00000393063.1_Silent_p.S1232S|DICER1_ENST00000541352.1_Silent_p.S1232S|DICER1_ENST00000556045.1_Silent_p.S130S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1232					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)			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)		TACATTCATCGCTGGGCTGGG	0.433			"""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"""		0				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.(3694-3696)agC>agT		dicer 1, ribonuclease type III							132.0	129.0	130.0					14																	95570037		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:95570037G>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.3696C>T	14.37:g.95570037G>A						DICER1_ENST00000343455.3_Silent_p.S1232S|DICER1_ENST00000556045.1_Silent_p.S130S|DICER1_ENST00000393063.1_Silent_p.S1232S|DICER1_ENST00000541352.1_Silent_p.S1232S|DICER1_ENST00000527414.1_Silent_p.S1232S	p.S1232S			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	23	3987	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1232					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.3696C>T	CCDS9931.1																																																																																				0.433	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			52	108	0	0	0	1	0	52	108				
SALL1	6299	broad.mit.edu	37	16	51174003	51174003	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:51174003G>A	ENST00000251020.4	-	2	2163	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.I613I	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	710					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCGGTGGCAGATGATGCACT	0.542																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1837-1839)atC>atT		spalt-like transcription factor 1							75.0	77.0	76.0					16																	51174003		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174003G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2130C>T	16.37:g.51174003G>A						SALL1_ENST00000251020.4_Silent_p.I710I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.I613I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2270	-		all_cancers(37;0.0322)	710					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1839C>T	CCDS10747.1																																																																																				0.542	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		37	61	0	0	0	1	0	37	61				
CHN2	1124	broad.mit.edu	37	7	29552210	29552210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:29552210G>A	ENST00000222792.6	+	13	1796	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	CHN2_ENST00000495789.2_Missense_Mutation_p.M435I|CHN2_ENST00000421775.2_Missense_Mutation_p.M228I|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000435288.2_Missense_Mutation_p.M146I|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000439711.2_Missense_Mutation_p.M240I|CHN2_ENST00000546235.1_Missense_Mutation_p.M407I|CHN2_ENST00000424025.2_Missense_Mutation_p.M241I|CHN2_ENST00000539389.1_Missense_Mutation_p.M278I|CHN2_ENST00000409041.4_Missense_Mutation_p.M286I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.M497I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	422	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ACAATTTCATGAATGCAGAAA	0.423																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(1264-1266)atG>atA		chimerin 2							88.0	90.0	89.0					7																	29552210		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552210G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1266G>A	7.37:g.29552210G>A	ENSP00000222792:p.Met422Ile					CHN2_ENST00000546235.1_Missense_Mutation_p.M407I|CHN2_ENST00000409041.4_Missense_Mutation_p.M286I|CHN2_ENST00000539389.1_Missense_Mutation_p.M278I|CHN2_ENST00000539406.1_Missense_Mutation_p.M497I|CHN2_ENST00000495789.2_Missense_Mutation_p.M435I|CHN2_ENST00000421775.2_Missense_Mutation_p.M228I|CHN2_ENST00000424025.2_Missense_Mutation_p.M241I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000435288.2_Missense_Mutation_p.M146I|CHN2_ENST00000439711.2_Missense_Mutation_p.M240I	p.M422I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			13	1796	+			422			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1266G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411240	0.83340	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.81370	0.4808	H	0.99582	4.64	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;P;D;P	0.89917	1.0;1.0;0.975;0.969;0.997;0.986;0.918;0.975;1.0;0.977;1.0;0.95;0.993;0.95	D;D;P;P;D;D;D;D;D;P;D;P;D;P	0.83275	0.99;0.993;0.682;0.554;0.96;0.932;0.935;0.966;0.996;0.902;0.996;0.535;0.96;0.535	D	0.89568	0.3811	10	0.87932	D	0	.	19.1587	0.93522	0.0:0.0:1.0:0.0	.	215;407;435;497;241;195;214;182;240;228;278;422;286;422	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	I	497;422;146;435;278;407;286;241;240;228	ENSP00000444063:M497I;ENSP00000222792:M422I;ENSP00000400282:M146I;ENSP00000438587:M435I;ENSP00000440526:M278I;ENSP00000442812:M407I;ENSP00000386849:M286I;ENSP00000406337:M241I;ENSP00000387425:M240I;ENSP00000394284:M228I	ENSP00000222792:M422I	M	+	3	0	CHN2	29518735	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.694000	0.98686	2.699000	0.92147	0.650000	0.86243	ATG		0.423	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		21	29	0	0	0	1	0	21	29				
BRPF1	7862	broad.mit.edu	37	3	9785382	9785382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:9785382G>A	ENST00000457855.1	+	7	2425	c.2414G>A	c.(2413-2415)cGc>cAc	p.R805H	BRPF1_ENST00000383829.2_Missense_Mutation_p.R811H|BRPF1_ENST00000302054.3_Missense_Mutation_p.R805H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R805H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R804H|BRPF1_ENST00000469066.1_3'UTR			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	805	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGTGTGGGCCGCTCACGGCGT	0.592																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(2431-2433)cGc>cAc		bromodomain and PHD finger containing, 1							36.0	35.0	35.0					3																	9785382		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9785382G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2414G>A	3.37:g.9785382G>A	ENSP00000410210:p.Arg805His					BRPF1_ENST00000302054.3_Missense_Mutation_p.R805H|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000457855.1_Missense_Mutation_p.R805H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R805H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R804H	p.R811H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			8	2836	+	Medulloblastoma(99;0.227)		805			Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.2432G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999098	0.74818	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.21543	2.14;2.0;3.49;2.11;2.11	6.07	6.07	0.98685	.	0.056989	0.85682	D	0.000000	T	0.50752	0.1634	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.986;0.986;0.957	T	0.44375	-0.9332	10	0.66056	D	0.02	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	805;804;811;805	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	805;804;811;805;805	ENSP00000402485:R805H;ENSP00000398863:R804H;ENSP00000373340:R811H;ENSP00000306297:R805H;ENSP00000410210:R805H	ENSP00000306297:R805H	R	+	2	0	BRPF1	9760382	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.255000	0.72466	2.884000	0.98904	0.655000	0.94253	CGC		0.592	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		17	11	0	0	0	1	0	17	11				
NNT	23530	broad.mit.edu	37	5	43616103	43616103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:43616103C>G	ENST00000264663.5	+	4	756	c.535C>G	c.(535-537)Cag>Gag	p.Q179E	NNT_ENST00000512996.2_Missense_Mutation_p.Q48E|NNT_ENST00000344920.4_Missense_Mutation_p.Q179E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	179					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGCAATGGACCAGGTTCCAAG	0.423																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(535-537)Cag>Gag		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						102.0	105.0	104.0					5																	43616103		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43616103C>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.535C>G	5.37:g.43616103C>G	ENSP00000264663:p.Gln179Glu					NNT_ENST00000512996.2_Missense_Mutation_p.Q48E|NNT_ENST00000344920.4_Missense_Mutation_p.Q179E	p.Q179E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			4	756	+	Lung NSC(6;2.58e-06)		179					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.535C>G	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991326	0.74703	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996;ENST00000515208	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.69	5.69	0.88448	Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	L	0.38838	1.175	0.80722	D	1	P	0.38729	0.644	B	0.40256	0.324	T	0.71686	-0.4518	10	0.49607	T	0.09	-9.9751	19.817	0.96573	0.0:1.0:0.0:0.0	.	179	Q13423	NNTM_HUMAN	E	179;179;179;179;48;48	ENSP00000427670:Q179E;ENSP00000421886:Q179E;ENSP00000264663:Q179E;ENSP00000343873:Q179E;ENSP00000426343:Q48E;ENSP00000425542:Q48E	ENSP00000264663:Q179E	Q	+	1	0	NNT	43651860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.603000	0.82811	2.678000	0.91216	0.655000	0.94253	CAG		0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		14	93	0	0	0	1	0	14	93				
PCDH15	65217	broad.mit.edu	37	10	55566403	55566403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:55566403G>C	ENST00000373965.2	-	36	5385	c.4991C>G	c.(4990-4992)tCt>tGt	p.S1664C	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1661C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCATCATCAGACTGTGTGTG	0.388										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4990-4992)tCt>tGt		protocadherin-related 15							190.0	155.0	166.0					10																	55566403		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566403G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4991C>G	10.37:g.55566403G>C	ENSP00000363076:p.Ser1664Cys	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.S1661C	p.S1664C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			36	5385	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4991C>G		.	.	.	.	.	.	.	.	.	.	G	20.7	4.041526	0.75732	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.70986	-0.53;-0.51	6.02	6.02	0.97574	.	.	.	.	.	D	0.83124	0.5186	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.956	T	0.83261	-0.0048	9	0.87932	D	0	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	1655;1661	C6ZEF7;C9J4F3	.;.	C	1664;1661;1657	ENSP00000363076:S1664C;ENSP00000410304:S1661C	ENSP00000363076:S1664C	S	-	2	0	PCDH15	55236409	1.000000	0.71417	0.947000	0.38551	0.757000	0.42996	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	TCT		0.388	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		34	65	0	0	0	1	0	34	65				
TCEA3	6920	broad.mit.edu	37	1	23724057	23724057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:23724057C>T	ENST00000450454.2	-	7	751	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	215	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTTCTGATGCCATCTTGTCAC	0.498																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(643-645)atG>atA		transcription elongation factor A (SII), 3							105.0	100.0	102.0					1																	23724057		2012	4184	6196	SO:0001583	missense	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23724057C>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.645G>A	1.37:g.23724057C>T	ENSP00000406293:p.Met215Ile						p.M215I	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	7	751	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	215			TFIIS central.		A8K2K7|Q5DR83	Missense_Mutation	SNP	ENST00000450454.2	37	c.645G>A	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816169	0.50527	.	.	ENSG00000204219	ENST00000450454	T	0.37915	1.17	5.36	5.36	0.76844	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.124523	0.64402	D	0.000001	T	0.27765	0.0683	L	0.28192	0.835	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.15052	0.012;0.012	T	0.04796	-1.0926	10	0.59425	D	0.04	-3.8338	13.0532	0.58966	0.1611:0.8389:0.0:0.0	.	215;215	A8K2K7;O75764	.;TCEA3_HUMAN	I	215	ENSP00000406293:M215I	ENSP00000406293:M215I	M	-	3	0	TCEA3	23596644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.879000	0.48522	2.682000	0.91365	0.549000	0.68633	ATG		0.498	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		12	59	0	0	0	1	0	12	59				
IGF1R	3480	broad.mit.edu	37	15	99250815	99250815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:99250815G>T	ENST00000268035.6	+	2	730	c.119G>T	c.(118-120)cGc>cTc	p.R40L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R40L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	40					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ATCGACATCCGCAACGACTAT	0.502																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(118-120)cGc>cTc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						55.0	46.0	49.0					15																	99250815		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99250815G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.119G>T	15.37:g.99250815G>T	ENSP00000268035:p.Arg40Leu					IGF1R_ENST00000558762.1_Missense_Mutation_p.R40L	p.R40L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	730	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		40					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.119G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853267	0.91355	.	.	ENSG00000140443	ENST00000268035	D	0.82893	-1.66	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000042	D	0.90985	0.7165	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.74674	0.739;0.984	D	0.91540	0.5249	10	0.87932	D	0	.	18.7192	0.91687	0.0:0.0:1.0:0.0	.	40;40	C9J5X1;P08069	.;IGF1R_HUMAN	L	40	ENSP00000268035:R40L	ENSP00000268035:R40L	R	+	2	0	IGF1R	97068338	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.667000	0.98616	2.727000	0.93392	0.655000	0.94253	CGC		0.502	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		10	31	1	0	1.58986e-06	1	1.63372e-06	10	31				
CDH7	1005	broad.mit.edu	37	18	63511084	63511084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63511084C>T	ENST00000397968.2	+	7	1444	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	CDH7_ENST00000323011.3_Missense_Mutation_p.R340W|CDH7_ENST00000536984.2_Missense_Mutation_p.R340W	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	340	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTACACGCTACGGATAGAAGC	0.423																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1018-1020)Cgg>Tgg		cadherin 7, type 2							106.0	102.0	103.0					18																	63511084		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511084C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1018C>T	18.37:g.63511084C>T	ENSP00000381058:p.Arg340Trp					CDH7_ENST00000323011.3_Missense_Mutation_p.R340W|CDH7_ENST00000397968.2_Missense_Mutation_p.R340W	p.R340W			Q9ULB5	CADH7_HUMAN			7	1712	+		Esophageal squamous(42;0.129)	340			Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1018C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338222	0.60963	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.52526	0.66;0.66;0.66	5.04	3.16	0.36331	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.78049	2.395	0.22779	N	0.998744	D;D	0.89917	0.999;1.0	D;D	0.74348	0.963;0.983	T	0.61372	-0.7076	10	0.87932	D	0	.	12.8624	0.57922	0.6112:0.3888:0.0:0.0	.	340;340	F5H5X9;Q9ULB5	.;CADH7_HUMAN	W	340	ENSP00000319166:R340W;ENSP00000443030:R340W;ENSP00000381058:R340W	ENSP00000319166:R340W	R	+	1	2	CDH7	61662064	1.000000	0.71417	0.218000	0.23776	0.988000	0.76386	3.255000	0.51484	0.748000	0.32831	0.655000	0.94253	CGG		0.423	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		16	47	0	0	0	1	0	16	47				
SVEP1	79987	broad.mit.edu	37	9	113170491	113170491	+	Silent	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:113170491G>C	ENST00000401783.2	-	38	7725	c.7389C>G	c.(7387-7389)ctC>ctG	p.L2463L	SVEP1_ENST00000374469.1_Silent_p.L2440L|SVEP1_ENST00000297826.5_Silent_p.L389L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2463	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.L2466L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGTATAGAGAGCTGTGC	0.478																																						ENST00000401783.2																			1	Substitution - coding silent(1)	p.L2466L(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(7387-7389)ctC>ctG		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							66.0	64.0	64.0					9																	113170491		1932	4143	6075	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170491G>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7389C>G	9.37:g.113170491G>C						SVEP1_ENST00000297826.5_Silent_p.L389L|SVEP1_ENST00000374469.1_Silent_p.L2440L	p.L2463L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7725	-			2463			Sushi 18.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.7389C>G	CCDS48004.1																																																																																				0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	27	0	0	0	1	0	9	27				
ITGA3	3675	broad.mit.edu	37	17	48145460	48145460	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:48145460C>T	ENST00000320031.8	+	4	785	c.455C>T	c.(454-456)tCa>tTa	p.S152L	ITGA3_ENST00000007722.7_Missense_Mutation_p.S152L|ITGA3_ENST00000544892.1_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	152					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGTCAGGGTCAGAAGACCAG	0.617																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(454-456)tCa>tTa		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							96.0	91.0	92.0					17																	48145460		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48145460C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.455C>T	17.37:g.48145460C>T	ENSP00000315190:p.Ser152Leu					ITGA3_ENST00000007722.7_Missense_Mutation_p.S152L|ITGA3_ENST00000544892.1_Intron	p.S152L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			4	785	+			152					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.455C>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756592	0.31137	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.44482	0.92;0.92	5.15	-0.144	0.13440	.	2.870750	0.00807	N	0.001477	T	0.33411	0.0862	L	0.39147	1.195	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.09058	-1.0692	10	0.37606	T	0.19	.	3.5454	0.07827	0.3826:0.3132:0.0:0.3042	.	152;152	P26006-1;P26006	.;ITA3_HUMAN	L	152;138;152	ENSP00000007722:S152L;ENSP00000315190:S152L	ENSP00000007722:S152L	S	+	2	0	ITGA3	45500459	0.000000	0.05858	0.003000	0.11579	0.969000	0.65631	-2.557000	0.00924	-0.274000	0.09232	0.650000	0.86243	TCA		0.617	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		15	76	0	0	0	1	0	15	76				
DSCC1	79075	broad.mit.edu	37	8	120859281	120859281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:120859281C>T	ENST00000313655.4	-	4	740	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	176					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTTCCTCACTTGCCTGA	0.308																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(526-528)Gag>Aag		DNA replication and sister chromatid cohesion 1							104.0	97.0	99.0					8																	120859281		2203	4299	6502	SO:0001583	missense	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120859281C>T		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.526G>A	8.37:g.120859281C>T	ENSP00000322180:p.Glu176Lys						p.E176K	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	740	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		176					Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	c.526G>A	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041462	0.75732	.	.	ENSG00000136982	ENST00000313655	T	0.48522	0.81	5.36	5.36	0.76844	.	0.218283	0.46758	D	0.000264	T	0.44477	0.1295	L	0.51914	1.62	0.53005	D	0.999963	B	0.33807	0.426	B	0.35770	0.21	T	0.29088	-1.0023	10	0.15066	T	0.55	-21.1601	17.2775	0.87120	0.0:1.0:0.0:0.0	.	176	Q9BVC3	DCC1_HUMAN	K	176	ENSP00000322180:E176K	ENSP00000322180:E176K	E	-	1	0	DSCC1	120928462	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.678000	0.54627	2.502000	0.84385	0.563000	0.77884	GAG		0.308	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		21	43	0	0	0	1	0	21	43				
AP2B1	163	broad.mit.edu	37	17	34001260	34001260	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:34001260G>A	ENST00000262325.7	+	16	2755	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	AP2B1_ENST00000592545.1_Silent_p.G710G|AP2B1_ENST00000538556.1_Silent_p.G677G|AP2B1_ENST00000589344.1_Silent_p.G748G|AP2B1_ENST00000312678.8_Silent_p.G748G|AP2B1_ENST00000537622.2_Silent_p.G748G|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	734					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCGCCAAGGGCACATCTATA	0.418																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2200-2202)ggG>ggA		adaptor-related protein complex 2, beta 1 subunit							133.0	128.0	129.0					17																	34001260		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34001260G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2202G>A	17.37:g.34001260G>A						AP2B1_ENST00000589344.1_Silent_p.G748G|AP2B1_ENST00000538556.1_Silent_p.G677G|AP2B1_ENST00000537622.2_Silent_p.G748G|AP2B1_ENST00000312678.8_Silent_p.G748G|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Silent_p.G710G	p.G734G	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	16	2755	+		Ovarian(249;0.17)	734					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.2202G>A	CCDS32622.1																																																																																				0.418	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			43	95	0	0	0	1	0	43	95				
PCNX	22990	broad.mit.edu	37	14	71517433	71517433	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:71517433G>T	ENST00000304743.2	+	23	4849	c.4403G>T	c.(4402-4404)tGg>tTg	p.W1468L	PCNX_ENST00000238570.5_Missense_Mutation_p.W1468L|PCNX_ENST00000439984.3_Missense_Mutation_p.W1357L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1468						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGATCACATGGGGTTCTGCT	0.388																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4402-4404)tGg>tTg		pecanex homolog (Drosophila)							161.0	159.0	159.0					14																	71517433		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71517433G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4403G>T	14.37:g.71517433G>T	ENSP00000304192:p.Trp1468Leu					PCNX_ENST00000439984.3_Missense_Mutation_p.W1357L|PCNX_ENST00000238570.5_Missense_Mutation_p.W1468L	p.W1468L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	23	4849	+			1468					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4403G>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.02|19.02	3.745147|3.745147	0.69418|0.69418	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.15487	.|2.73;2.44;2.42	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50274|0.50274	0.1606|0.1606	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;0.999	.|D;D;D	.|0.91635	.|0.994;0.999;0.994	T|T	0.53767|0.53767	-0.8392|-0.8392	5|10	.|0.87932	.|D	.|0	.|.	20.1374|20.1374	0.98035|0.98035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1468;1357;1468	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	W|L	527|1468;1468;1357	.|ENSP00000304192:W1468L;ENSP00000238570:W1468L;ENSP00000396617:W1357L	.|ENSP00000238570:W1468L	G|W	+|+	1|2	0|0	PCNX|PCNX	70587186|70587186	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	9.813000|9.813000	0.99286|0.99286	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	GGG|TGG		0.388	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		105	30	1	0	2.5327e-61	1	2.85888e-61	105	30				
GPR97	222487	broad.mit.edu	37	16	57719693	57719693	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:57719693G>A	ENST00000333493.4	+	11	1556	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.A345A|GPR97_ENST00000327655.6_Silent_p.A255A	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	465				A -> V (in Ref. 4; AAH64508). {ECO:0000305}.	neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A465A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGCTACAGCGGTCAAGGAGC	0.607																																						ENST00000333493.4																			1	Substitution - coding silent(1)	p.A465A(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1393-1395)gcG>gcA		G protein-coupled receptor 97							129.0	108.0	115.0					16																	57719693		2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57719693G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1395G>A	16.37:g.57719693G>A						RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.A345A|GPR97_ENST00000327655.6_Silent_p.A255A	p.A465A	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			11	1556	+			465	A -> V (in Ref. 4; AAH64508).				Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1395G>A	CCDS10786.1																																																																																				0.607	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		14	46	0	0	0	1	0	14	46				
FMN2	56776	broad.mit.edu	37	1	240256066	240256066	+	Silent	SNP	A	A	G	rs532298569	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:240256066A>G	ENST00000319653.9	+	1	887	c.657A>G	c.(655-657)caA>caG	p.Q219Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	219	Gln-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.Q354_Q362delQQLQLQLQQ(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			agctccagcaacagcagcagc	0.672																																						ENST00000319653.9																			1	Deletion - In frame(1)	p.Q354_Q362delQQLQLQLQQ(1)	breast(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(655-657)caA>caG		formin 2							15.0	16.0	16.0					1																	240256066		2178	4222	6400	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256066A>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.657A>G	1.37:g.240256066A>G							p.Q219Q	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	887	+	Ovarian(103;0.127)	all_cancers(173;0.013)	219			Gln-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.657A>G	CCDS31069.2																																																																																				0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	12	0	0	0	1	0	3	12				
SCN1A	6323	broad.mit.edu	37	2	166908262	166908262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:166908262C>G	ENST00000303395.4	-	6	930	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E311Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.E311Q|SCN1A_ENST00000409050.1_Missense_Mutation_p.E311Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	311					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGTCAAACTCAAAGACAGTT	0.303																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(931-933)Gag>Cag		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						52.0	54.0	53.0					2																	166908262		2202	4297	6499	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908262C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.931G>C	2.37:g.166908262C>G	ENSP00000303540:p.Glu311Gln					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E311Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.E311Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.E311Q|AC010127.3_ENST00000595268.1_RNA	p.E311Q	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			6	948	-			311					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.931G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	3.212	-0.161439	0.06502	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96200	-3.94;-3.94;-3.89;-3.88	5.41	4.53	0.55603	Ion transport (1);	0.392297	0.24220	N	0.040447	D	0.90872	0.7132	N	0.24115	0.695	0.09310	N	0.999999	B;B;B	0.27316	0.145;0.175;0.144	B;B;B	0.39617	0.02;0.305;0.078	T	0.80144	-0.1505	10	0.13853	T	0.58	.	6.8657	0.24093	0.0:0.6498:0.1889:0.1613	.	311;311;311	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	311	ENSP00000407030:E311Q;ENSP00000303540:E311Q;ENSP00000364554:E311Q;ENSP00000386312:E311Q	ENSP00000303540:E311Q	E	-	1	0	SCN1A	166616508	0.512000	0.26186	0.546000	0.28166	0.607000	0.37147	0.999000	0.29757	1.415000	0.47037	-0.140000	0.14226	GAG		0.303	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		8	34	0	0	0	1	0	8	34				
SH3TC2	79628	broad.mit.edu	37	5	148427475	148427475	+	Missense_Mutation	SNP	G	G	A	rs185149793	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:148427475G>A	ENST00000515425.1	-	3	330	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	SH3TC2_ENST00000512049.1_Missense_Mutation_p.R77W|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	77					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGAGCCGCCTCCGAGCA	0.522													G|||	3	0.000599042	0.0	0.0	5008	,	,		18454	0.003		0.0	False		,,,				2504	0.0					ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(229-231)Cgg>Tgg		SH3 domain and tetratricopeptide repeats 2							111.0	110.0	110.0					5																	148427475		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148427475G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.229C>T	5.37:g.148427475G>A	ENSP00000423660:p.Arg77Trp					SH3TC2_ENST00000512049.1_Missense_Mutation_p.R77W|SH3TC2_ENST00000394358.2_5'UTR	p.R77W	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	330	-			77					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.229C>T	CCDS4293.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.92	2.083913	0.36758	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	D;D	0.81739	-1.52;-1.53	5.27	2.09	0.27110	.	0.000000	0.64402	D	0.000003	D	0.85978	0.5823	L	0.59436	1.845	0.22280	N	0.999231	D;D;D	0.89917	1.0;0.993;1.0	D;P;D	0.76071	0.987;0.707;0.987	T	0.78224	-0.2287	10	0.87932	D	0	.	12.2316	0.54490	0.0:0.0:0.5747:0.4253	.	77;77;77	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	W	77	ENSP00000423660:R77W;ENSP00000421860:R77W	ENSP00000313025:R77W	R	-	1	2	SH3TC2	148407668	0.144000	0.22641	0.993000	0.49108	0.029000	0.11900	0.556000	0.23438	0.634000	0.30469	0.655000	0.94253	CGG		0.522	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		5	85	0	0	0	1	0	5	85				
ZMYND11	10771	broad.mit.edu	37	10	293375	293375	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:293375G>A	ENST00000397962.3	+	12	1624	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	ZMYND11_ENST00000397959.3_Missense_Mutation_p.R314Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R399Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.R399Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.R279Q|ZMYND11_ENST00000381604.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R368Q|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R398Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R319Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R314Q|ZMYND11_ENST00000309776.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.R194Q|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381584.1_Missense_Mutation_p.R382Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.R305Q			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	399					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R360fs*9(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAGAAAGGACGACGTAATCAA	0.378																																						ENST00000397962.3																			1	Deletion - Frameshift(1)	p.R360fs*9(1)	breast(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(1195-1197)cGa>cAa		zinc finger, MYND-type containing 11							86.0	79.0	81.0					10																	293375		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:293375G>A	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1196G>A	10.37:g.293375G>A	ENSP00000381053:p.Arg399Gln					ZMYND11_ENST00000381604.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000397959.3_Missense_Mutation_p.R314Q|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R399Q|ZMYND11_ENST00000381607.4_Missense_Mutation_p.R305Q|ZMYND11_ENST00000381602.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R314Q|ZMYND11_ENST00000381591.1_Missense_Mutation_p.R399Q|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R398Q|ZMYND11_ENST00000381584.1_Missense_Mutation_p.R382Q|ZMYND11_ENST00000309776.4_Missense_Mutation_p.R359Q|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R368Q|ZMYND11_ENST00000535374.1_Missense_Mutation_p.R194Q|ZMYND11_ENST00000545619.1_Missense_Mutation_p.R279Q|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R319Q	p.R399Q			Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	12	1624	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	359					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.1196G>A	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	37	6.092445	0.97276	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	L	0.27053	0.805	0.44085	D	0.996846	D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.997;0.98;0.992;0.997;0.994;0.994;0.997;0.992;0.997	P;P;B;P;P;D;P;P;P;P	0.64042	0.73;0.736;0.296;0.565;0.669;0.921;0.588;0.557;0.484;0.669	T	0.57556	-0.7791	8	0.25106	T	0.35	-10.6906	20.5568	0.99304	0.0:0.0:1.0:0.0	.	359;399;314;344;399;319;328;345;345;368	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	Q	399;359;359;399;314;399;319;305;368;359;382;279;194	.	ENSP00000309992:R359Q	R	+	2	0	ZMYND11	283375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.005000	0.93587	2.861000	0.98227	0.655000	0.94253	CGA		0.378	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		12	43	0	0	0	1	0	12	43				
TP53INP2	58476	broad.mit.edu	37	20	33296573	33296573	+	Silent	SNP	C	C	T	rs201916370	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:33296573C>T	ENST00000374810.3	+	3	419	c.30C>T	c.(28-30)ttC>ttT	p.F10F	TP53INP2_ENST00000374809.2_Silent_p.F10F|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	10					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						GCCTCTTCTTCAGCACCCCCT	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		11073	0.001		0.0	False		,,,				2504	0.001					ENST00000374810.3																			0				endometrium(1)|urinary_tract(1)	2						c.(28-30)ttC>ttT		tumor protein p53 inducible nuclear protein 2							26.0	30.0	28.0					20																	33296573		2201	4290	6491	SO:0001819	synonymous_variant	58476					nucleus		g.chr20:33296573C>T	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.30C>T	20.37:g.33296573C>T						NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Silent_p.F10F	p.F10F	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN			3	419	+			10					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Silent	SNP	ENST00000374810.3	37	c.30C>T	CCDS13240.1																																																																																				0.657	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	NM_021202		4	36	0	0	0	1	0	4	36				
CUBN	8029	broad.mit.edu	37	10	17142048	17142048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:17142048C>T	ENST00000377833.4	-	14	1786	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	574	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCATTTCTTAAATGTTC	0.403																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1720-1722)aGa>aAa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						126.0	125.0	126.0					10																	17142048		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142048C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1721G>A	10.37:g.17142048C>T	ENSP00000367064:p.Arg574Lys						p.R574K	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			14	1786	-			574			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1721G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.360560	0.01245	.	.	ENSG00000107611	ENST00000377833	T	0.59638	0.25	5.51	2.31	0.28768	CUB (5);	0.504604	0.16834	N	0.197610	T	0.33411	0.0862	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25537	-1.0129	10	0.02654	T	1	.	1.3004	0.02078	0.2107:0.4021:0.2143:0.1729	.	574	O60494	CUBN_HUMAN	K	574	ENSP00000367064:R574K	ENSP00000367064:R574K	R	-	2	0	CUBN	17182054	0.001000	0.12720	0.001000	0.08648	0.286000	0.27126	1.245000	0.32790	0.663000	0.31027	0.650000	0.86243	AGA		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		20	104	0	0	0	1	0	20	104				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714					ENST00000414190.2																			0																																																			642402							g.chr15:85053142C>T																													15.37:g.85053142C>T								NR_003246.2						0	310	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			5	8	0	0	0	1	0	5	8				
MCHR2	84539	broad.mit.edu	37	6	100382357	100382357	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:100382357G>T	ENST00000281806.2	-	5	938	c.624C>A	c.(622-624)ttC>ttA	p.F208L	MCHR2_ENST00000369212.2_Missense_Mutation_p.F208L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.343																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(622-624)ttC>ttA		melanin-concentrating hormone receptor 2							86.0	86.0	86.0					6																	100382357		2203	4297	6500	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382357G>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.624C>A	6.37:g.100382357G>T	ENSP00000281806:p.Phe208Leu					MCHR2_ENST00000369212.1_Missense_Mutation_p.F208L|MCHR2_ENST00000445970.1_Missense_Mutation_p.F208L	p.F208L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	938	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.624C>A	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	2.671	-0.277484	0.05679	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.31510	1.49;1.49;1.49	5.11	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.086238	0.47455	D	0.000222	T	0.02083	0.0065	N	0.01817	-0.705	0.33466	D	0.585596	B	0.06786	0.001	B	0.09377	0.004	T	0.43718	-0.9374	10	0.02654	T	1	.	3.9146	0.09217	0.3436:0.177:0.4795:0.0	.	208	Q969V1	MCHR2_HUMAN	L	208	ENSP00000403490:F208L;ENSP00000281806:F208L;ENSP00000358214:F208L	ENSP00000281806:F208L	F	-	3	2	MCHR2	100489078	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.415000	0.21181	0.280000	0.22209	0.655000	0.94253	TTC		0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		58	31	1	0	7.22619e-39	1	8.0955e-39	58	31				
ZNF641	121274	broad.mit.edu	37	12	48737262	48737262	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:48737262T>C	ENST00000544117.2	-	6	1519	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	ZNF641_ENST00000448928.3_Missense_Mutation_p.K248E|ZNF641_ENST00000301042.3_Missense_Mutation_p.K271E|ZNF641_ENST00000547026.1_Missense_Mutation_p.K257E			Q96N77	ZN641_HUMAN	zinc finger protein 641	271					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						ACAAACTGTTTCCCACACTGG	0.532																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(811-813)Aaa>Gaa		zinc finger protein 641							85.0	82.0	83.0					12																	48737262		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48737262T>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.811A>G	12.37:g.48737262T>C	ENSP00000437832:p.Lys271Glu					ZNF641_ENST00000547026.1_Missense_Mutation_p.K257E|ZNF641_ENST00000301042.3_Missense_Mutation_p.K271E|ZNF641_ENST00000448928.3_Missense_Mutation_p.K248E	p.K271E			Q96N77	ZN641_HUMAN			6	1519	-			271					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.811A>G	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651053	0.67472	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.42517	0.1206	M	0.69523	2.12	0.32622	N	0.523134	P;P	0.48503	0.911;0.59	B;B	0.43251	0.413;0.242	T	0.63323	-0.6663	10	0.72032	D	0.01	.	14.044	0.64693	0.0:0.0:0.0:1.0	.	248;271	B4DNU5;Q96N77	.;ZN641_HUMAN	E	271;271;248;257	ENSP00000301042:K271E;ENSP00000437832:K271E;ENSP00000394627:K248E;ENSP00000449974:K257E	ENSP00000301042:K271E	K	-	1	0	ZNF641	47023529	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.487000	0.45268	2.269000	0.75478	0.533000	0.62120	AAA		0.532	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		15	58	0	0	0	1	0	15	58				
BCORL1	63035	broad.mit.edu	37	X	129159271	129159271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:129159271G>A	ENST00000218147.7	+	7	4192	c.3995G>A	c.(3994-3996)cGa>cAa	p.R1332Q	BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1332Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1332Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1332					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGAAGAAACGAAGACGGCAG	0.582																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3994-3996)cGa>cAa		BCL6 corepressor-like 1							71.0	62.0	65.0					X																	129159271		2203	4299	6502	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129159271G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3995G>A	X.37:g.129159271G>A	ENSP00000218147:p.Arg1332Gln					BCORL1_ENST00000218147.7_Missense_Mutation_p.R1332Q|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1332Q	p.R1332Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			6	4039	+			1332					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3995G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580554	0.86645	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.63913	-0.07;-0.03;-0.07;0.05	5.61	5.61	0.85477	.	0.000000	0.33005	N	0.005390	T	0.70527	0.3234	L	0.27053	0.805	0.45515	D	0.998471	D;D	0.89917	0.999;1.0	D;D	0.79108	0.99;0.992	T	0.73864	-0.3848	10	0.62326	D	0.03	-15.1561	18.5834	0.91180	0.0:0.0:1.0:0.0	.	1332;1332	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	Q	1332;1332;1332;932	ENSP00000218147:R1332Q;ENSP00000307541:R1332Q;ENSP00000437775:R1332Q;ENSP00000399483:R932Q	ENSP00000218147:R1332Q	R	+	2	0	BCORL1	128986952	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	7.764000	0.85297	2.331000	0.79229	0.513000	0.50165	CGA		0.582	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		35	36	0	0	0	1	0	35	36				
ZNF804A	91752	broad.mit.edu	37	2	185802876	185802876	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:185802876T>C	ENST00000302277.6	+	4	3347	c.2753T>C	c.(2752-2754)gTc>gCc	p.V918A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	918							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACCACATCTGTCTGTGTAGCT	0.388																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2752-2754)gTc>gCc		zinc finger protein 804A							93.0	90.0	91.0					2																	185802876		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802876T>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2753T>C	2.37:g.185802876T>C	ENSP00000303252:p.Val918Ala						p.V918A	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3347	+			918					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2753T>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	2.172	-0.389576	0.04932	.	.	ENSG00000170396	ENST00000302277	T	0.06933	3.24	5.47	-0.151	0.13411	.	1.663530	0.03558	N	0.226519	T	0.06645	0.0170	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42413	-0.9453	10	0.25106	T	0.35	3.2681	10.4858	0.44722	0.0:0.3755:0.0:0.6245	.	918	Q7Z570	Z804A_HUMAN	A	918	ENSP00000303252:V918A	ENSP00000303252:V918A	V	+	2	0	ZNF804A	185511121	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.506000	0.22658	-0.245000	0.09625	0.482000	0.46254	GTC		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		23	57	0	0	0	1	0	23	57				
NAV2	89797	broad.mit.edu	37	11	20119263	20119263	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:20119263G>A	ENST00000396087.3	+	34	6429	c.6330G>A	c.(6328-6330)gaG>gaA	p.E2110E	NAV2_ENST00000360655.4_Silent_p.E1987E|NAV2_ENST00000396085.1_Silent_p.E2054E|NAV2_ENST00000533917.1_Silent_p.E1115E|NAV2_ENST00000311043.8_Silent_p.E1115E|NAV2_ENST00000349880.4_Silent_p.E2051E|NAV2_ENST00000540292.1_Silent_p.E2041E|NAV2_ENST00000527559.2_Silent_p.E2039E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2110					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGTTGGAGAGAACACGACCA	0.478																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6160-6162)gaG>gaA		neuron navigator 2							158.0	150.0	153.0					11																	20119263		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20119263G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6330G>A	11.37:g.20119263G>A						NAV2_ENST00000311043.8_Silent_p.E1115E|NAV2_ENST00000527559.2_Silent_p.E2039E|NAV2_ENST00000349880.4_Silent_p.E2051E|NAV2_ENST00000533917.1_Silent_p.E1115E|NAV2_ENST00000540292.1_Silent_p.E2041E|NAV2_ENST00000396087.3_Silent_p.E2110E|NAV2_ENST00000360655.4_Silent_p.E1987E	p.E2054E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			32	6523	+			2110					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.6162G>A	CCDS58126.1																																																																																				0.478	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		10	101	0	0	0	1	0	10	101				
GDPD5	81544	broad.mit.edu	37	11	75152211	75152211	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:75152211G>A	ENST00000336898.3	-	14	2307	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Silent_p.I371I|GDPD5_ENST00000526177.1_Silent_p.I352I|GDPD5_ENST00000376282.3_Silent_p.I371I|GDPD5_ENST00000533805.1_Silent_p.I245I|GDPD5_ENST00000529721.1_Silent_p.I490I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	490					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AACTCACCATGATCCAGAGGG	0.662																																						ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(1054-1056)atC>atT		glycerophosphodiester phosphodiesterase domain containing 5							33.0	29.0	31.0					11																	75152211		2200	4293	6493	SO:0001819	synonymous_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75152211G>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1470C>T	11.37:g.75152211G>A						GDPD5_ENST00000533784.1_Silent_p.I371I|GDPD5_ENST00000533805.1_Silent_p.I245I|GDPD5_ENST00000529721.1_Silent_p.I490I|GDPD5_ENST00000336898.3_Silent_p.I490I|GDPD5_ENST00000376282.3_Silent_p.I371I|GDPD5_ENST00000443276.2_3'UTR	p.I352I			Q8WTR4	GDPD5_HUMAN			10	2934	-			490			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	37	c.1056C>T	CCDS8238.1																																																																																				0.662	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		11	36	0	0	0	1	0	11	36				
RNMT	8731	broad.mit.edu	37	18	13741657	13741657	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:13741657T>C	ENST00000383314.2	+	7	1181	c.941T>C	c.(940-942)tTt>tCt	p.F314S	RNMT_ENST00000535051.1_Missense_Mutation_p.F72S|RNMT_ENST00000589866.1_Missense_Mutation_p.F314S|RNMT_ENST00000262173.3_Missense_Mutation_p.F314S|RNMT_ENST00000543302.2_Missense_Mutation_p.F314S|RNMT_ENST00000592764.1_Missense_Mutation_p.F314S			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	314	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GGGGGCTATTTTATTGGTACT	0.363																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(940-942)tTt>tCt		RNA (guanine-7-) methyltransferase							95.0	96.0	96.0					18																	13741657		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13741657T>C	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.941T>C	18.37:g.13741657T>C	ENSP00000372804:p.Phe314Ser					RNMT_ENST00000535051.1_Missense_Mutation_p.F72S|RNMT_ENST00000589866.1_Missense_Mutation_p.F314S|RNMT_ENST00000543302.2_Missense_Mutation_p.F314S|RNMT_ENST00000592764.1_Missense_Mutation_p.F314S|RNMT_ENST00000262173.3_Missense_Mutation_p.F314S	p.F314S			O43148	MCES_HUMAN			7	1181	+			314					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.941T>C	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314861	0.81358	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000262173	.	.	.	5.61	4.42	0.53409	.	0.043942	0.85682	D	0.000000	D	0.85309	0.5667	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87932	0.2711	9	0.87932	D	0	-18.5621	12.6384	0.56696	0.0:0.0:0.1384:0.8616	.	314;314	O43148-2;O43148	.;MCES_HUMAN	S	314;72;314;314	.	ENSP00000262173:F314S	F	+	2	0	RNMT	13731657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.465000	0.80898	0.923000	0.37045	0.482000	0.46254	TTT		0.363	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		22	75	0	0	0	1	0	22	75				
GRAMD4	23151	broad.mit.edu	37	22	47059754	47059754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:47059754C>T	ENST00000406902.1	+	7	832	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R207W			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	207					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAATATGAGACGGCTCAGTGA	0.617																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(619-621)Cgg>Tgg		GRAM domain containing 4							67.0	62.0	63.0					22																	47059754		2202	4300	6502	SO:0001583	missense	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47059754C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.619C>T	22.37:g.47059754C>T	ENSP00000385689:p.Arg207Trp					GRAMD4_ENST00000361034.3_Missense_Mutation_p.R207W	p.R207W			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	7	832	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	207					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	c.619C>T	CCDS33672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.12|17.12	3.308784|3.308784	0.60305|0.60305	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.47869|.	0.83;0.83|.	4.36|4.36	-3.88|-3.88	0.04205|0.04205	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.46157|0.46157	1.445|1.445	0.21355|0.21355	N|N	0.999718|0.999718	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.70935|.	0.96;0.971|.	T|T	0.46034|0.46034	-0.9220|-0.9220	10|5	0.87932|.	D|.	0|.	-5.0253|-5.0253	9.7887|9.7887	0.40692|0.40692	0.5998:0.2931:0.1071:0.0|0.5998:0.2931:0.1071:0.0	.|.	29;207|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	W|M	207|29	ENSP00000385689:R207W;ENSP00000354313:R207W|.	ENSP00000354313:R207W|.	R|T	+|+	1|2	2|0	GRAMD4|GRAMD4	45438418|45438418	0.512000|0.512000	0.26186|0.26186	0.001000|0.001000	0.08648|0.08648	0.060000|0.060000	0.15804|0.15804	0.450000|0.450000	0.21762|0.21762	-0.292000|-0.292000	0.08999|0.08999	0.450000|0.450000	0.29827|0.29827	CGG|ACG		0.617	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		18	32	0	0	0	1	0	18	32				
OR6B1	135946	broad.mit.edu	37	7	143701141	143701141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:143701141C>T	ENST00000408922.2	+	1	120	c.52C>T	c.(52-54)Cct>Tct	p.P18S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	18						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(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGTGGGATTCCCTGGGAGCTT	0.483																																						ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(52-54)Cct>Tct		olfactory receptor, family 6, subfamily B, member 1							106.0	98.0	101.0					7																	143701141		1939	4165	6104	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701141C>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.52C>T	7.37:g.143701141C>T	ENSP00000386151:p.Pro18Ser						p.P18S	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	120	+	Melanoma(164;0.0783)		18					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.52C>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964449	0.18583	.	.	ENSG00000221813	ENST00000408922	T	0.00421	7.46	5.37	5.37	0.77165	.	0.000000	0.36740	U	0.002426	T	0.00178	0.0005	N	0.03930	-0.32	0.41833	D	0.99008	B	0.25169	0.119	B	0.26864	0.074	T	0.70447	-0.4869	10	0.10902	T	0.67	.	9.9224	0.41472	0.0:0.9105:0.0:0.0895	.	18	O95007	OR6B1_HUMAN	S	18	ENSP00000386151:P18S	ENSP00000386151:P18S	P	+	1	0	OR6B1	143332074	0.000000	0.05858	0.816000	0.32577	0.237000	0.25408	0.261000	0.18442	2.782000	0.95742	0.557000	0.71058	CCT		0.483	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			12	16	0	0	0	1	0	12	16				
CASK	8573	broad.mit.edu	37	X	41401990	41401990	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:41401990C>G	ENST00000378163.1	-	22	2583	c.2109G>C	c.(2107-2109)aaG>aaC	p.K703N	CASK_ENST00000421587.2_Missense_Mutation_p.K674N|CASK_ENST00000361962.4_Missense_Mutation_p.K691N|CASK_ENST00000378166.4_Missense_Mutation_p.K703N|CASK_ENST00000378158.1_Missense_Mutation_p.K691N|CASK_ENST00000442742.2_Missense_Mutation_p.K680N|CASK_ENST00000318588.9_Missense_Mutation_p.K703N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	703					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCTTCTTTTTCTTGCCAAACC	0.418																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(2107-2109)aaG>aaC		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							174.0	131.0	145.0					X																	41401990		2203	4300	6503	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41401990C>G	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2109G>C	X.37:g.41401990C>G	ENSP00000367405:p.Lys703Asn					CASK_ENST00000442742.2_Missense_Mutation_p.K680N|CASK_ENST00000378158.1_Missense_Mutation_p.K691N|CASK_ENST00000378163.1_Missense_Mutation_p.K703N|CASK_ENST00000378166.4_Missense_Mutation_p.K703N|CASK_ENST00000361962.4_Missense_Mutation_p.K691N|CASK_ENST00000421587.2_Missense_Mutation_p.K674N	p.K703N			O14936	CSKP_HUMAN			22	2154	-			703					A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.2109G>C		.	.	.	.	.	.	.	.	.	.	C	17.31	3.358142	0.61403	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.73	5.73	0.89815	Src homology-3 domain (1);	0.000000	0.64402	D	0.000014	D	0.87767	0.6260	L	0.47016	1.485	0.80722	D	1	P;P;P;P;P	0.51791	0.948;0.908;0.756;0.902;0.568	P;P;P;P;B	0.61397	0.466;0.888;0.452;0.448;0.21	D	0.86055	0.1528	10	0.37606	T	0.19	.	19.1596	0.93526	0.0:1.0:0.0:0.0	.	674;680;703;703;295	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	N	674;703;691;703;295;158;691;703;680	ENSP00000400526:K674N;ENSP00000322727:K703N;ENSP00000354641:K691N;ENSP00000367405:K703N;ENSP00000367421:K295N;ENSP00000367410:K158N;ENSP00000367400:K691N;ENSP00000367408:K703N;ENSP00000398007:K680N	ENSP00000322727:K703N	K	-	3	2	CASK	41286934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.561000	0.86390	0.523000	0.50628	AAG		0.418	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		8	71	0	0	0	1	0	8	71				
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; 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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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)	ENST00000269305.4		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"""		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(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	GRCh37	CM004908	TP53	M		c.(1024-1026)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7574003G>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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	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_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR	p.R342*	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	11	0	0	0	1	0	33	11				
MAGEC3	139081	broad.mit.edu	37	X	140926143	140926143	+	Silent	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:140926143T>C	ENST00000298296.1	+	1	42	c.42T>C	c.(40-42)agT>agC	p.S14S		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	14										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCTTCAGTGATGGCAGTC	0.537																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(40-42)agT>agC		melanoma antigen family C, 3							103.0	72.0	82.0					X																	140926143		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140926143T>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.42T>C	X.37:g.140926143T>C							p.S14S	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			1	42	+	Acute lymphoblastic leukemia(192;6.56e-05)		14					Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.42T>C	CCDS14676.1																																																																																				0.537	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		6	105	0	0	0	1	0	6	105				
KCNK4	50801	broad.mit.edu	37	11	64065047	64065047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64065047G>A	ENST00000539216.1	+	4	943	c.583G>A	c.(583-585)Gag>Aag	p.E195K	TEX40_ENST00000328404.6_5'Flank|KCNK4_ENST00000422670.2_Missense_Mutation_p.E195K|TEX40_ENST00000539943.1_5'Flank|KCNK4_ENST00000538767.1_Intron|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_Missense_Mutation_p.E195K|Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000539651.1_Intron			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	195					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CTGCTATATGGAGGACTGGAG	0.577																																						ENST00000539216.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(583-585)Gag>Aag		potassium channel, subfamily K, member 4							143.0	106.0	118.0					11																	64065047		2201	4297	6498	SO:0001583	missense	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64065047G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.583G>A	11.37:g.64065047G>A	ENSP00000444948:p.Glu195Lys					KCNK4_ENST00000539651.1_Intron|KCNK4_ENST00000394525.2_Missense_Mutation_p.E195K|KCNK4_ENST00000422670.2_Missense_Mutation_p.E195K|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Intron	p.E195K			Q9NYG8	KCNK4_HUMAN			4	943	+			195					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.583G>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279132	0.95489	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.39787	1.06;1.06;1.06	5.26	5.26	0.73747	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	H	0.94620	3.56	0.80722	D	1	P;P	0.38800	0.648;0.566	P;P	0.46659	0.523;0.521	T	0.75291	-0.3369	10	0.72032	D	0.01	.	16.3623	0.83273	0.0:0.0:1.0:0.0	.	221;195	Q9NYG8-2;Q9NYG8	.;KCNK4_HUMAN	K	195;220;195;257;195	ENSP00000402797:E195K;ENSP00000378033:E195K;ENSP00000444948:E195K	ENSP00000378033:E195K	E	+	1	0	KCNK4	63821623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.387000	0.97232	2.459000	0.83118	0.511000	0.50034	GAG		0.577	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		21	144	0	0	0	1	0	21	144				
CFAP54	144535	broad.mit.edu	37	12	97085024	97085024	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:97085024G>T	ENST00000524981.4	+	44	6223	c.6200G>T	c.(6199-6201)tGc>tTc	p.C2067F				Q96N23	CL055_HUMAN		0																	GCTGACATTTGCTCTGTAATT	0.363																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1552-1554)tGc>tTc									121.0	108.0	113.0					12																	97085024		2203	4300	6503	SO:0001583	missense	144535							g.chr12:97085024G>T																												ENST00000524981.4:c.6200G>T	12.37:g.97085024G>T	ENSP00000431759:p.Cys2067Phe						p.C518F			Q6ZTY8	CL063_HUMAN			11	1553	+			492						Missense_Mutation	SNP	ENST00000524981.4	37	c.1553G>T		.	.	.	.	.	.	.	.	.	.	G	12.09	1.833174	0.32421	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.73	4.79	0.61399	.	0.284734	0.36444	N	0.002596	T	0.61540	0.2355	.	.	.	0.19575	N	0.999969	D	0.71674	0.998	P	0.62560	0.904	T	0.54984	-0.8211	8	0.56958	D	0.05	-3.5077	13.3681	0.60696	0.0:0.3612:0.6388:0.0	.	492	Q6ZTY8	CL063_HUMAN	F	2067;492	.	ENSP00000345466:C492F	C	+	2	0	C12orf63	95609155	0.982000	0.34865	0.497000	0.27552	0.181000	0.23173	1.779000	0.38624	2.854000	0.98071	0.655000	0.94253	TGC		0.363	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			9	36	1	0	0.000274275	1	0.000278007	9	36				
HYAL4	23553	broad.mit.edu	37	7	123516945	123516945	+	Silent	SNP	G	G	A	rs138391454	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:123516945G>A	ENST00000223026.4	+	5	1820	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	HYAL4_ENST00000476325.1_Silent_p.A394A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTGGAACGCGCCCAGTTACC	0.507													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18291	0.0		0.0	False		,,,				2504	0.0					ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1180-1182)gcG>gcA		hyaluronoglucosaminidase 4		G		5,4401	9.9+/-24.2	0,5,2198	138.0	127.0	130.0		1182	-11.7	0.0	7	dbSNP_134	130	0,8600		0,0,4300	no	coding-synonymous	HYAL4	NM_012269.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		394/482	123516945	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516945G>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1182G>A	7.37:g.123516945G>A						HYAL4_ENST00000476325.1_Silent_p.A394A	p.A394A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			5	1820	+			394					D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.1182G>A	CCDS5789.1																																																																																				0.507	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		36	51	0	0	0	1	0	36	51				
MYCT1	80177	broad.mit.edu	37	6	153019042	153019042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:153019042G>A	ENST00000367245.5	+	1	13	c.5G>A	c.(4-6)cGa>cAa	p.R2Q	MYCT1_ENST00000529453.1_Missense_Mutation_p.R2Q	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	2						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCTTTTATGCGAACACAAGTA	0.323																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(4-6)cGa>cAa		myc target 1							71.0	73.0	72.0					6																	153019042		2203	4297	6500	SO:0001583	missense	80177					nucleus		g.chr6:153019042G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.5G>A	6.37:g.153019042G>A	ENSP00000356214:p.Arg2Gln					MYCT1_ENST00000529453.1_Missense_Mutation_p.R2Q	p.R2Q	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	1	13	+		Ovarian(120;0.0654)	2					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.5G>A	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210491	0.09757	.	.	ENSG00000120279	ENST00000367245;ENST00000529453	T	0.35605	1.3	5.86	3.48	0.39840	.	0.873277	0.09538	N	0.788655	T	0.03695	0.0105	N	0.02539	-0.55	0.22240	N	0.999269	B	0.06786	0.001	B	0.01281	0.0	T	0.46148	-0.9212	10	0.10636	T	0.68	-2.4592	6.1209	0.20151	0.6716:0.1275:0.2009:0.0	.	2	Q8N699	MYCT1_HUMAN	Q	2	ENSP00000356214:R2Q	ENSP00000356214:R2Q	R	+	2	0	MYCT1	153060735	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.091000	0.41691	0.143000	0.18926	-2.254000	0.00282	CGA		0.323	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		22	11	0	0	0	1	0	22	11				
ATP7A	538	broad.mit.edu	37	X	77267139	77267139	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:77267139T>G	ENST00000341514.6	+	9	2295	c.2140T>G	c.(2140-2142)Ttg>Gtg	p.L714V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.L714V	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	714					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGTTATGAATTTGCTGTCCTT	0.338																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(2140-2142)Ttg>Gtg		ATPase, Cu++ transporting, alpha polypeptide							226.0	214.0	218.0					X																	77267139		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77267139T>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2140T>G	X.37:g.77267139T>G	ENSP00000345728:p.Leu714Val					ATP7A_ENST00000343533.5_Missense_Mutation_p.L714V|ATP7A_ENST00000350425.4_Intron	p.L714V	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			9	2295	+			714					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2140T>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	9.892	1.204541	0.22205	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.97041	-4.22;-4.22	5.42	5.42	0.78866	.	0.084250	0.51477	D	0.000083	D	0.97362	0.9137	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.62184	0.899	D	0.96895	0.9656	10	0.48119	T	0.1	0.1109	9.1576	0.37002	0.0:0.0825:0.0:0.9175	.	714	Q04656	ATP7A_HUMAN	V	714	ENSP00000343026:L714V;ENSP00000345728:L714V	ENSP00000345728:L714V	L	+	1	2	ATP7A	77153795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.735000	0.62051	1.811000	0.52892	0.437000	0.28790	TTG		0.338	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		86	215	0	0	0	1	0	86	215				
HSPG2	3339	broad.mit.edu	37	1	22169404	22169404	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:22169404C>T	ENST00000374695.3	-	67	8848	c.8769G>A	c.(8767-8769)ctG>ctA	p.L2923L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2923	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGGCTGGGCCAGTCCTGGAG	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8767-8769)ctG>ctA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						59.0	56.0	57.0					1																	22169404		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22169404C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8769G>A	1.37:g.22169404C>T							p.L2923L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	67	8848	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2923			Ig-like C2-type 14.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.8769G>A	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		5	38	0	0	0	1	0	5	38				
GHITM	27069	broad.mit.edu	37	10	85903817	85903817	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:85903817A>G	ENST00000372134.3	+	4	489	c.296A>G	c.(295-297)tAt>tGt	p.Y99C		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	99					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTGTGCTACTATGGCTTGGGA	0.418																																						ENST00000372134.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(295-297)tAt>tGt		growth hormone inducible transmembrane protein							245.0	248.0	247.0					10																	85903817		2008	4161	6169	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85903817A>G	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.296A>G	10.37:g.85903817A>G	ENSP00000361207:p.Tyr99Cys						p.Y99C	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			4	489	+			99					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.296A>G	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529054	0.85706	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	M	0.88105	2.93	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	D	0.84275	0.0491	9	0.72032	D	0.01	-17.9047	15.7887	0.78332	1.0:0.0:0.0:0.0	.	99	Q9H3K2	GHITM_HUMAN	C	99;86;99	.	ENSP00000361207:Y99C	Y	+	2	0	GHITM	85893797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.802000	0.91910	2.367000	0.80283	0.528000	0.53228	TAT		0.418	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		39	67	0	0	0	1	0	39	67				
DRD4	1815	broad.mit.edu	37	11	640559	640559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:640559G>A	ENST00000176183.5	+	4	1228	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	454					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	CTTCAACGCCGAGTTCCGCAA	0.697																																						ENST00000176183.5																			0				NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1216-1218)Gag>Aag		dopamine receptor D4	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						96.0	82.0	87.0					11																	640559		2203	4299	6502	SO:0001583	missense	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding	g.chr11:640559G>A	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"""GPCR / Class A : Dopamine receptors"""	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.1216G>A	11.37:g.640559G>A	ENSP00000176183:p.Glu406Lys						p.E406K	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1228	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	454					B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	c.1216G>A	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	g	33	5.273401	0.95459	.	.	ENSG00000069696	ENST00000176183	T	0.38077	1.16	3.02	3.02	0.34903	.	0.000000	0.64402	D	0.000001	T	0.58836	0.2150	.	.	.	0.53688	D	0.999978	D	0.89917	1.0	D	0.80764	0.994	T	0.66472	-0.5915	9	0.87932	D	0	.	13.2758	0.60186	0.0:0.0:1.0:0.0	.	454	P21917	DRD4_HUMAN	K	406	ENSP00000176183:E406K	ENSP00000176183:E406K	E	+	1	0	DRD4	630559	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.163000	0.94750	1.709000	0.51313	0.457000	0.33378	GAG		0.697	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		24	70	0	0	0	1	0	24	70				
MAMDC4	158056	broad.mit.edu	37	9	139749038	139749038	+	Missense_Mutation	SNP	C	C	T	rs368772199		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:139749038C>T	ENST00000317446.2	+	8	894	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.R282C	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCATGGAACCGCTCGGAAGG	0.687																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(844-846)Cgc>Tgc		MAM domain containing 4		C	CYS/ARG	0,4362		0,0,2181	20.0	21.0	21.0		844	-0.3	0.0	9		21	2,8588		0,2,4293	no	missense	MAMDC4	NM_206920.2	180	0,2,6474	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	282/1138	139749038	2,12950	2181	4295	6476	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139749038C>T	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.844C>T	9.37:g.139749038C>T	ENSP00000319388:p.Arg282Cys					MAMDC4_ENST00000317446.2_Missense_Mutation_p.R282C|MAMDC4_ENST00000485732.1_3'UTR	p.R282C			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	8	894	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	282			MAM 2.			Missense_Mutation	SNP	ENST00000317446.2	37	c.844C>T	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.29|16.29	3.080583|3.080583	0.55753|0.55753	0.0|0.0	2.33E-4|2.33E-4	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02236	.|4.38;4.38	4.61|4.61	-0.299|-0.299	0.12808|0.12808	.|.	.|1.422880	.|0.04649	.|N	.|0.406763	T|T	0.02848|0.02848	0.0085|0.0085	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|D	.|0.56521	.|0.976	.|B	.|0.43916	.|0.436	T|T	0.43048|0.43048	-0.9415|-0.9415	5|10	.|0.72032	.|D	.|0.01	-1.9291|-1.9291	4.9886|4.9886	0.14202|0.14202	0.4252:0.3973:0.0:0.1775|0.4252:0.3973:0.0:0.1775	.|.	.|282	.|Q6UXC1-2	.|.	L|C	263|282	.|ENSP00000319388:R282C;ENSP00000411339:R282C	.|ENSP00000319388:R282C	P|R	+|+	2|1	0|0	MAMDC4|MAMDC4	138868859|138868859	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.041000|0.041000	0.13927|0.13927	0.047000|0.047000	0.15862|0.15862	-0.314000|-0.314000	0.08810|0.08810	CCG|CGC		0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		5	10	0	0	0	1	0	5	10				
TANGO6	79613	broad.mit.edu	37	16	69056846	69056846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:69056846G>C	ENST00000261778.1	+	16	2970	c.2958G>C	c.(2956-2958)caG>caC	p.Q986H		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	986						integral component of membrane (GO:0016021)											AGCTGTGCCAGAGGCTGGACT	0.522																																						ENST00000261778.1																			0											c.(2956-2958)caG>caC		transport and golgi organization 6 homolog (Drosophila)							43.0	45.0	44.0					16																	69056846		1941	4156	6097	SO:0001583	missense	79613							g.chr16:69056846G>C		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2958G>C	16.37:g.69056846G>C	ENSP00000261778:p.Gln986His						p.Q986H	NM_024562.1	NP_078838.1					16	2970	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.2958G>C	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683440	0.29872	.	.	ENSG00000103047	ENST00000261778	T	0.65732	-0.17	4.31	1.2	0.21068	Armadillo-like helical (1);Armadillo-type fold (1);	0.250989	0.39407	N	0.001370	T	0.74207	0.3686	M	0.71581	2.175	0.49582	D	0.999808	D	0.71674	0.998	D	0.79784	0.993	T	0.73097	-0.4090	10	0.66056	D	0.02	-11.6004	10.8629	0.46837	0.2498:0.0:0.7502:0.0	.	986	Q9C0B7	TMCO7_HUMAN	H	986	ENSP00000261778:Q986H	ENSP00000261778:Q986H	Q	+	3	2	TMCO7	67614347	0.998000	0.40836	0.970000	0.41538	0.292000	0.27327	2.427000	0.44740	-0.002000	0.14469	-1.744000	0.00683	CAG		0.522	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		3	9	0	0	0	1	0	3	9				
MCF2	4168	broad.mit.edu	37	X	138724819	138724819	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:138724819C>T	ENST00000370576.4	-	0	68				MCF2_ENST00000370578.4_Intron|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000370573.4_5'Flank|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000338585.6_5'Flank|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000536274.1_De_novo_Start_OutOfFrame	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCCATTAGCACAGTGGCAGCA	0.433																																						ENST00000370576.4																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62								MCF.2 cell line derived transforming sequence																																						4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138724819C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.-142G>A	X.37:g.138724819C>T						MCF2_ENST00000414978.1_Intron|MCF2_ENST00000536274.1_De_novo_Start_OutOfFrame|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000519895.1_Intron		NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN			0	68	-	Acute lymphoblastic leukemia(192;0.000127)							B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Translation_Start_Site	SNP	ENST00000370576.4	37		CCDS14667.1																																																																																				0.433	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		3	28	0	0	0	1	0	3	28				
SPANXN1	494118	broad.mit.edu	37	X	144337190	144337190	+	Splice_Site	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:144337190G>A	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443																																						ENST00000370493.3																			2	Unknown(2)	p.?(2)	lung(2)	endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.e2-1		SPANX family, member N1							85.0	82.0	83.0					X																	144337190		2203	4297	6500	SO:0001630	splice_region_variant	494118							g.chrX:144337190G>A		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.76-1G>A	X.37:g.144337190G>A								NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	834	+	Acute lymphoblastic leukemia(192;6.56e-05)								Splice_Site	SNP	ENST00000370493.3	37		CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	0.135	-1.109476	0.01813	.	.	ENSG00000203923	ENST00000370493	.	.	.	1.64	-2.36	0.06663	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5569	0.00672	0.1823:0.2389:0.3353:0.2435	.	.	.	.	.	-1	.	.	.	+	.	.	SPANXN1	144144882	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.699000	0.05087	-0.716000	0.04962	-2.006000	0.00442	.		0.443	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614	Intron	16	80	0	0	0	1	0	16	80				
NELFCD	51497	broad.mit.edu	37	20	57568743	57568743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:57568743C>T	ENST00000344018.3	+	13	1559	c.1532C>T	c.(1531-1533)cCt>cTt	p.P511L	NELFCD_ENST00000479207.1_Intron|NELFCD_ENST00000602795.1_Missense_Mutation_p.P520L			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	511					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TATGTACTTCCTGTTGTCAGT	0.483																																						ENST00000602795.1																			0											c.(1558-1560)cCt>cTt		negative elongation factor complex member C/D							192.0	171.0	178.0					20																	57568743		2203	4300	6503	SO:0001583	missense	51497							g.chr20:57568743C>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1532C>T	20.37:g.57568743C>T	ENSP00000342300:p.Pro511Leu					NELFCD_ENST00000479207.1_Intron|NELFCD_ENST00000344018.3_Missense_Mutation_p.P511L	p.P520L							13	1607	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.1559C>T		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925034	0.92319	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.88105	2.93	0.80722	D	1	D	0.58970	0.984	P	0.56343	0.796	D	0.84817	0.0794	9	0.87932	D	0	-27.3237	17.6664	0.88203	0.0:1.0:0.0:0.0	.	511	Q8IXH7	NELFD_HUMAN	L	511	.	ENSP00000342300:P511L	P	+	2	0	TH1L	57002138	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.580000	0.82523	2.472000	0.83506	0.557000	0.71058	CCT		0.483	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		34	72	0	0	0	1	0	34	72				
CDH7	1005	broad.mit.edu	37	18	63547695	63547695	+	Silent	SNP	C	C	T	rs183960485	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63547695C>T	ENST00000397968.2	+	12	2349	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	CDH7_ENST00000323011.3_Silent_p.D641D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	641					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTATTTTTGACGAAGAAAGAG	0.443													C|||	10	0.00199681	0.0	0.0	5008	,	,		18292	0.002		0.0	False		,,,				2504	0.0082					ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1921-1923)gaC>gaT		cadherin 7, type 2							63.0	65.0	64.0					18																	63547695		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547695C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1923C>T	18.37:g.63547695C>T						CDH7_ENST00000323011.3_Silent_p.D641D	p.D641D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2349	+		Esophageal squamous(42;0.129)	641					Q9H157	Silent	SNP	ENST00000397968.2	37	c.1923C>T	CCDS11993.1																																																																																				0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		9	28	0	0	0	1	0	9	28				
LILRP2	79166	broad.mit.edu	37	19	55221973	55221973	+	RNA	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:55221973C>A	ENST00000413439.1	+	0	1500									leukocyte immunoglobulin-like receptor pseudogene 2																		CTGTGTCAGTCACGGGAGCAG	0.617																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55221973C>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221973C>A														0	1500	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.617	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		19	44	1	0	6.49762e-13	1	7.06675e-13	19	44				
OR5AR1	219493	broad.mit.edu	37	11	56432082	56432082	+	Silent	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:56432082A>G	ENST00000302969.2	+	1	945	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TAATTGGAAAAAAATCTCAAT	0.348																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(919-921)aaA>aaG		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							24.0	25.0	25.0					11																	56432082		2201	4295	6496	SO:0001819	synonymous_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56432082A>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.921A>G	11.37:g.56432082A>G							p.K307K	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	945	+			307					Q6IF61	Silent	SNP	ENST00000302969.2	37	c.921A>G	CCDS31535.1																																																																																				0.348	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		12	25	0	0	0	1	0	12	25				
POLR1E	64425	broad.mit.edu	37	9	37486603	37486603	+	Missense_Mutation	SNP	A	A	G	rs1571234	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:37486603A>G	ENST00000377792.3	+	1	454	c.166A>G	c.(166-168)Aca>Gca	p.T56A	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCCCATTCTGACACTCCCTCC	0.562													A|||	2392	0.477636	0.5681	0.4553	5008	,	,		2358	0.2887		0.5427	False		,,,				2504	0.499				Ovarian(116;843 1620 18506 32459 34463)	ENST00000377792.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.(166-168)Aca>Gca		polymerase (RNA) I polypeptide E, 53kDa																																				SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37486603A>G	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377792.3:c.166A>G	9.37:g.37486603A>G	ENSP00000367023:p.Thr56Ala					POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron	p.T56A			Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	1	454	+			56	T -> A (in Ref. 1; BAC03629).				O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377792.3	37	c.166A>G		1050	0.4807692307692308	282	0.573170731707317	183	0.505524861878453	169	0.29545454545454547	416	0.5488126649076517	A	11.71	1.720186	0.30503	.	.	ENSG00000137054	ENST00000377792	T	0.26373	1.74	3.22	-6.45	0.01914	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.45804	-0.9236	7	0.40728	T	0.16	.	1.425	0.02321	0.1477:0.1657:0.3478:0.3387	rs1571234;rs52808690;rs60018035;rs1571234	56	Q9GZS1	RPA49_HUMAN	A	56	ENSP00000367023:T56A	ENSP00000367023:T56A	T	+	1	0	POLR1E	37476603	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.172000	0.01266	-1.639000	0.01527	0.454000	0.30748	ACA		0.562	POLR1E-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052465.1	NM_022490		3	29	0	0	0	1	0	3	29				
BTNL8	79908	broad.mit.edu	37	5	180338567	180338567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:180338567G>A	ENST00000340184.4	+	3	832	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84Q|BTNL8_ENST00000508408.1_Missense_Mutation_p.R209Q|BTNL8_ENST00000533815.2_Missense_Mutation_p.R25Q|BTNL8_ENST00000231229.4_Missense_Mutation_p.R209Q|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2Q|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93Q	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCCATGCGGCATGCTCAT	0.547																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(625-627)cGg>cAg		butyrophilin-like 8							68.0	67.0	67.0					5																	180338567		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180338567G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.626G>A	5.37:g.180338567G>A	ENSP00000342197:p.Arg209Gln					BTNL8_ENST00000533815.2_Missense_Mutation_p.R25Q|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93Q|BTNL8_ENST00000508408.1_Missense_Mutation_p.R209Q|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2Q|BTNL8_ENST00000400707.3_Missense_Mutation_p.R84Q|BTNL8_ENST00000340184.4_Missense_Mutation_p.R209Q	p.R209Q	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	860	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	209			Ig-like V-type 2.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.626G>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	A	0.187	-1.056820	0.01965	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.61859	3.34;3.34;3.34;3.34;3.34;0.07;0.4	3.59	0.787	0.18596	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22551	0.0544	N	0.03000	-0.44	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.0;0.002;0.003;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.26608	-1.0098	9	0.02654	T	1	.	3.0846	0.06273	0.5791:0.0:0.2382:0.1827	.	84;93;209;209;209	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	Q	209;209;84;209;93;2;25	ENSP00000231229:R209Q;ENSP00000342197:R209Q;ENSP00000383543:R84Q;ENSP00000424585:R209Q;ENSP00000425207:R93Q;ENSP00000427441:R2Q;ENSP00000435098:R25Q	ENSP00000231229:R209Q	R	+	2	0	BTNL8	180271173	0.005000	0.15991	0.008000	0.14137	0.030000	0.12068	0.532000	0.23067	0.018000	0.15052	-1.140000	0.01884	CGG		0.547	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		39	30	0	0	0	1	0	39	30				
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Substitution - Nonsense(2)	p.C179*(1)|p.C140*(1)	prostate(2)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(535-537)tgT>tgA		notch 2							115.0	89.0	98.0					1																	120539834		2202	4300	6502	SO:0001587	stop_gained	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539834A>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.537T>A	1.37:g.120539834A>T	ENSP00000256646:p.Cys179*					NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	p.C179*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	756	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	179			EGF-like 4.		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.537T>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	37	6.561929	0.97667	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	.	.	.	5.83	3.53	0.40419	.	0.000000	0.41194	U	0.000921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8688	0.35303	0.7868:0.0:0.2132:0.0	.	.	.	.	X	179;140;152;140	.	ENSP00000256646:C179X	C	-	3	2	NOTCH2	120341357	0.976000	0.34144	0.998000	0.56505	0.933000	0.57130	0.678000	0.25277	1.020000	0.39573	0.477000	0.44152	TGT		0.552	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		39	51	0	0	0	1	0	39	51				
CCNJ	54619	broad.mit.edu	37	10	97810064	97810064	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:97810064C>T	ENST00000265992.5	+	3	488	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R41W|CCNJ_ENST00000403870.3_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R41W	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	41	Cyclin N-terminal.					nucleus (GO:0005634)		p.R41W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AAGTCTCAGACGGTATTTTGC	0.478																																						ENST00000265992.5																			1	Substitution - Missense(1)	p.R41W(1)	kidney(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(121-123)Cgg>Tgg		cyclin J							167.0	135.0	146.0					10																	97810064		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97810064C>T	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.121C>T	10.37:g.97810064C>T	ENSP00000265992:p.Arg41Trp					CCNJ_ENST00000534974.1_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.R41W|CCNJ_ENST00000403870.3_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	p.R41W	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	3	488	+			41			Cyclin N-terminal.		B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.121C>T	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851763	0.71719	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.12465	2.68;2.68;2.68	5.26	2.05	0.26809	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.64687	0.917;0.882;0.928	T	0.36841	-0.9731	10	0.66056	D	0.02	-17.0914	13.7225	0.62737	0.6642:0.3358:0.0:0.0	.	41;41;41	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	W	41	ENSP00000265992:R41W;ENSP00000384498:R41W;ENSP00000441415:R41W	ENSP00000265992:R41W	R	+	1	2	CCNJ	97800054	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.345000	0.33953	0.170000	0.19704	0.644000	0.83932	CGG		0.478	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		24	58	0	0	0	1	0	24	58				
PCDHA13	56136	broad.mit.edu	37	5	140263856	140263856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140263856C>T	ENST00000289272.2	+	1	2003	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S668L|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGTTGTCGCTGGTGGAG	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(2002-2004)tCg>tTg									54.0	53.0	53.0					5																	140263856		2203	4299	6502	SO:0001583	missense	56136							g.chr5:140263856C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2003C>T	5.37:g.140263856C>T	ENSP00000289272:p.Ser668Leu					PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S668L|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.S668L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2003	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2003C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	6.879	0.531521	0.13127	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.49432	0.78;0.84	4.08	4.08	0.47627	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.50565	0.1623	M	0.70842	2.15	0.23287	N	0.997973	B;B;P	0.39737	0.451;0.398;0.685	B;B;B	0.42163	0.072;0.378;0.157	T	0.47947	-0.9077	9	0.51188	T	0.08	.	10.4005	0.44227	0.0:0.9056:0.0:0.0944	.	668;668;668	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	668	ENSP00000386821:S668L;ENSP00000289272:S668L	ENSP00000289272:S668L	S	+	2	0	PCDHA13	140244040	0.000000	0.05858	0.999000	0.59377	0.032000	0.12392	0.146000	0.16180	2.084000	0.62774	0.655000	0.94253	TCG		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		30	38	0	0	0	1	0	30	38				
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(33)|Deletion - Frameshift(5)|Substitution - Missense(3)	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(285)|skin(182)|central_nervous_system(168)|lung(150)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(64)|soft_tissue(57)|oesophagus(53)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM060208	CDKN2A	M	rs121913389	c.(328-330)tgG>tgA		cyclin-dependent kinase inhibitor 2A							18.0	21.0	20.0					9																	21971028		2198	4295	6493	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971028C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.330G>A	9.37:g.21971028C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R	p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	600	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.330G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.852087|6.852087	0.97885|0.97885	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.87412|.	-2.25;-2.15|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.38217|.	N|.	0.001771|.	T|.	0.37839|.	0.1018|.	L|L	0.32530|0.32530	0.975|0.975	0.30154|0.30154	N|N	0.80279|0.80279	D|.	0.58620|.	0.983|.	P|.	0.60117|.	0.869|.	T|.	0.38887|.	-0.9640|.	10|.	0.87932|0.42905	D|T	0|0.14	-14.7138|-14.7138	8.0617|8.0617	0.30638|0.30638	0.1597:0.7616:0.0:0.0788|0.1597:0.7616:0.0:0.0788	.|.	166|.	Q8N726|.	CD2A2_HUMAN|.	R|X	166;125|110	ENSP00000355153:G166R;ENSP00000432664:G125R|.	ENSP00000355153:G166R|ENSP00000307101:W110X	G|W	-|-	1|3	0|0	CDKN2A|CDKN2A	21961028|21961028	0.088000|0.088000	0.21588|0.21588	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.422000|0.422000	0.21296|0.21296	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		11	17	0	0	0	1	0	11	17				
FGL2	10875	broad.mit.edu	37	7	76826174	76826174	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:76826174C>T	ENST00000248598.5	-	2	774	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	248	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAGCCTCCCCCCATGGTCTCC	0.493																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(742-744)Ggg>Agg		fibrinogen-like 2							108.0	103.0	105.0					7																	76826174		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76826174C>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.742G>A	7.37:g.76826174C>T	ENSP00000248598:p.Gly248Arg					CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA	p.G248R	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			2	774	-			248			Fibrinogen C-terminal.			Missense_Mutation	SNP	ENST00000248598.5	37	c.742G>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800619	0.90538	.	.	ENSG00000127951	ENST00000248598	D	0.84873	-1.91	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.091642	0.85682	D	0.000000	D	0.94739	0.8302	M	0.93507	3.425	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	D	0.95233	0.8344	10	0.72032	D	0.01	.	19.8132	0.96556	0.0:1.0:0.0:0.0	.	248	Q14314	FGL2_HUMAN	R	248	ENSP00000248598:G248R	ENSP00000248598:G248R	G	-	1	0	FGL2	76664110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.785000	0.95823	0.655000	0.94253	GGG		0.493	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		44	65	0	0	0	1	0	44	65				
INPPL1	3636	broad.mit.edu	37	11	71942214	71942214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:71942214C>T	ENST00000298229.2	+	12	1682	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	INPPL1_ENST00000541756.1_Missense_Mutation_p.T251M|INPPL1_ENST00000538751.1_Missense_Mutation_p.T251M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	493					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAGGAGCTTACGGATCTGGAT	0.592																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1477-1479)aCg>aTg		inositol polyphosphate phosphatase-like 1							91.0	101.0	98.0					11																	71942214		2198	4292	6490	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942214C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1478C>T	11.37:g.71942214C>T	ENSP00000298229:p.Thr493Met					INPPL1_ENST00000538751.1_Missense_Mutation_p.T251M|INPPL1_ENST00000541756.1_Missense_Mutation_p.T251M	p.T493M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			12	1682	+			493					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1478C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.224597	0.79576	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.80566	-1.39;-1.39;-1.39	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.055136	0.64402	D	0.000001	D	0.83266	0.5217	L	0.38953	1.18	0.46823	D	0.999212	D	0.76494	0.999	P	0.62560	0.904	T	0.82059	-0.0645	10	0.39692	T	0.17	.	15.092	0.72201	0.0:0.8578:0.1422:0.0	.	493	O15357	SHIP2_HUMAN	M	493;251;251	ENSP00000298229:T493M;ENSP00000446360:T251M;ENSP00000444619:T251M	ENSP00000298229:T493M	T	+	2	0	INPPL1	71619862	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	5.622000	0.67750	2.746000	0.94184	0.655000	0.94253	ACG		0.592	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		118	126	0	0	0	1	0	118	126				
ATP8B5P	158381	broad.mit.edu	37	9	35450086	35450086	+	RNA	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:35450086C>A	ENST00000430846.1	+	0	2936									ATPase, class I, type 8B, member 5, pseudogene																		AACAGAAGATCTGCAGGCTTC	0.418																																						ENST00000430846.1																			0																																																			158381							g.chr9:35450086C>A			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.35450086C>A														0	2936	+									RNA	SNP	ENST00000430846.1	37																																																																																						0.418	ATP8B5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052312.1	NR_003581.1		23	66	1	0	1.50039e-11	1	1.61999e-11	23	66				
OR1N1	138883	broad.mit.edu	37	9	125288840	125288840	+	Missense_Mutation	SNP	C	C	T	rs151154516		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:125288840C>T	ENST00000304880.2	-	1	732	c.733G>A	c.(733-735)Gtt>Att	p.V245I		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACACAAACAACGCAGAGGTGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		21717	0.0		0.0	False		,,,				2504	0.001					ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(733-735)Gtt>Att		olfactory receptor, family 1, subfamily N, member 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	116.0	100.0	106.0		733	2.8	0.0	9	dbSNP_134	106	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR1N1	NM_012363.1	29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	245/312	125288840	4,13002	2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288840C>T	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.733G>A	9.37:g.125288840C>T	ENSP00000306974:p.Val245Ile						p.V245I	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	732	-			245					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.733G>A	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	c	17.31	3.356106	0.61293	2.27E-4	3.49E-4	ENSG00000171505	ENST00000304880	T	0.00253	8.43	3.75	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32357	U	0.006213	T	0.00241	0.0007	M	0.82132	2.575	0.19300	N	0.999977	B	0.23249	0.082	B	0.18871	0.023	T	0.33033	-0.9884	10	0.62326	D	0.03	.	10.5572	0.45125	0.0:0.9014:0.0:0.0986	.	245	Q8NGS0	OR1N1_HUMAN	I	245	ENSP00000306974:V245I	ENSP00000306974:V245I	V	-	1	0	OR1N1	124328661	0.000000	0.05858	0.006000	0.13384	0.920000	0.55202	0.067000	0.14510	0.824000	0.34613	-0.300000	0.09419	GTT		0.547	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			13	55	0	0	0	1	0	13	55				
MEGF6	1953	broad.mit.edu	37	1	3422007	3422007	+	Missense_Mutation	SNP	G	G	A	rs367928595	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:3422007G>A	ENST00000356575.4	-	16	2258	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	MEGF6_ENST00000294599.4_Missense_Mutation_p.R573W	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	678						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCTCGCCCCGGAAGCCAGCC	0.697													g|||	8	0.00159744	0.0	0.0	5008	,	,		14717	0.0079		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2032-2034)Cgg>Tgg		multiple EGF-like-domains 6		A	TRP/ARG	4,4194		0,4,2095	13.0	17.0	15.0		2032	-2.9	0.0	1		15	0,8422		0,0,4211	no	missense	MEGF6	NM_001409.3	101	0,4,6306	AA,AG,GG		0.0,0.0953,0.0317	benign	678/1542	3422007	4,12616	2099	4211	6310	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3422007G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2032C>T	1.37:g.3422007G>A	ENSP00000348982:p.Arg678Trp					MEGF6_ENST00000294599.4_Missense_Mutation_p.R573W	p.R678W	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	16	2258	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	678					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2032C>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	g	4.134	0.023203	0.08006	9.53E-4	0.0	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.35421	1.31;1.31	4.62	-2.9	0.05648	EGF-like, laminin (1);EGF-like region, conserved site (2);	0.883482	0.09863	N	0.745916	T	0.23054	0.0557	L	0.43646	1.37	0.09310	N	0.999993	B;B	0.12630	0.003;0.006	B;B	0.12837	0.002;0.008	T	0.24835	-1.0149	10	0.40728	T	0.16	-5.3437	1.3601	0.02190	0.2864:0.1044:0.396:0.2132	.	678;573	O75095;O75095-2	MEGF6_HUMAN;.	W	573;678	ENSP00000294599:R573W;ENSP00000348982:R678W	ENSP00000294599:R573W	R	-	1	2	MEGF6	3411867	0.000000	0.05858	0.004000	0.12327	0.130000	0.20726	-0.444000	0.06854	-1.078000	0.03117	-1.402000	0.01139	CGG		0.697	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		5	9	0	0	0	1	0	5	9				
PCDH11X	27328	broad.mit.edu	37	X	91131788	91131788	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:91131788C>A	ENST00000373094.1	+	2	1394	c.549C>A	c.(547-549)aaC>aaA	p.N183K	PCDH11X_ENST00000373088.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N183K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N183K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGAGTCAAAACATTTTTGGCC	0.289																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(547-549)aaC>aaA		protocadherin 11 X-linked							38.0	34.0	36.0					X																	91131788		2196	4276	6472	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131788C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.549C>A	X.37:g.91131788C>A	ENSP00000362186:p.Asn183Lys					PCDH11X_ENST00000395337.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N183K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N183K	p.N183K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	1394	+			183			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.549C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	2.461	-0.324138	0.05350	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.69	0.989	0.19802	Cadherin (4);Cadherin-like (1);	0.261365	0.42682	D	0.000674	T	0.37320	0.0999	L	0.28274	0.84	0.36296	D	0.85674	B;B;B;B;B;P;B;B	0.35307	0.438;0.142;0.438;0.438;0.438;0.494;0.438;0.234	B;B;B;B;B;B;B;B	0.43155	0.197;0.209;0.287;0.287;0.287;0.41;0.197;0.197	T	0.36286	-0.9754	10	0.56958	D	0.05	.	7.6604	0.28400	0.0:0.2503:0.0:0.7497	.	183;183;183;183;183;183;183;183	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	183	ENSP00000378746:N183K;ENSP00000362186:N183K;ENSP00000362189:N183K;ENSP00000355040:N183K;ENSP00000362180:N183K;ENSP00000423762:N183K;ENSP00000355105:N183K;ENSP00000384758:N183K;ENSP00000298274:N183K	ENSP00000298274:N183K	N	+	3	2	PCDH11X	91018444	1.000000	0.71417	0.075000	0.20258	0.025000	0.11179	1.564000	0.36375	-0.180000	0.10637	-0.296000	0.09543	AAC		0.289	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		27	76	1	0	3.62531e-18	1	4.00126e-18	27	76				
ABTB1	80325	broad.mit.edu	37	3	127394943	127394943	+	Missense_Mutation	SNP	C	C	G	rs75647091		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:127394943C>G	ENST00000232744.8	+	4	392	c.306C>G	c.(304-306)gaC>gaG	p.D102E	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000453791.2_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ATTACTATGACGACTTCTTGC	0.642																																						ENST00000232744.8																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(304-306)gaC>gaG		ankyrin repeat and BTB (POZ) domain containing 1							38.0	38.0	38.0					3																	127394943		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127394943C>G	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.306C>G	3.37:g.127394943C>G	ENSP00000232744:p.Asp102Glu					ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR	p.D102E			Q969K4	ABTB1_HUMAN			4	392	+			102						Missense_Mutation	SNP	ENST00000232744.8	37	c.306C>G	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	c	0.207	-1.039513	0.02013	.	.	ENSG00000114626	ENST00000232744	T	0.57595	0.39	4.71	-8.28	0.01013	BTB/POZ fold (1);Ankyrin repeat-containing domain (1);	0.353337	0.31061	N	0.008336	T	0.34716	0.0907	L	0.45698	1.435	0.39145	D	0.96211	B;B	0.17268	0.003;0.021	B;B	0.16289	0.004;0.015	T	0.52056	-0.8626	10	0.02654	T	1	-20.3475	17.0406	0.86488	0.0:0.3269:0.0:0.6731	.	102;77	Q969K4;Q969K4-3	ABTB1_HUMAN;.	E	102	ENSP00000232744:D102E	ENSP00000232744:D102E	D	+	3	2	ABTB1	128877633	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.040000	0.01416	-2.149000	0.00797	-1.352000	0.01234	GAC		0.642	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		36	28	0	0	0	1	0	36	28				
OCRL	4952	broad.mit.edu	37	X	128696645	128696645	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:128696645C>G	ENST00000371113.4	+	12	1291	c.1126C>G	c.(1126-1128)Ctg>Gtg	p.L376V	OCRL_ENST00000357121.5_Missense_Mutation_p.L376V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	376	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAATTCCCATCTGGCTGCACA	0.428																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1126-1128)Ctg>Gtg		oculocerebrorenal syndrome of Lowe							159.0	133.0	142.0					X																	128696645		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696645C>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1126C>G	X.37:g.128696645C>G	ENSP00000360154:p.Leu376Val					OCRL_ENST00000357121.5_Missense_Mutation_p.L376V	p.L376V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			12	1291	+			376					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1126C>G	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344105	0.61073	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.97232	-4.3;-4.3	5.69	4.83	0.62350	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.99199	0.9722	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	D	0.97953	1.0333	10	0.72032	D	0.01	.	11.1744	0.48590	0.0:0.8435:0.0:0.1565	.	376;376	Q01968-2;Q01968	.;OCRL_HUMAN	V	376	ENSP00000360154:L376V;ENSP00000349635:L376V	ENSP00000349635:L376V	L	+	1	2	OCRL	128524326	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.979000	0.40608	1.162000	0.42619	0.513000	0.50165	CTG		0.428	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		28	143	0	0	0	1	0	28	143				
RPH3A	22895	broad.mit.edu	37	12	113332462	113332462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:113332462G>A	ENST00000389385.4	+	20	2352	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	RPH3A_ENST00000447659.2_Missense_Mutation_p.E570K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E619K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E615K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E619K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E570K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E619K|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	619	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGAATTCAATGAGGTAAGGCT	0.448																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1855-1857)Gag>Aag		rabphilin 3A homolog (mouse)							69.0	62.0	65.0					12																	113332462		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113332462G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1855G>A	12.37:g.113332462G>A	ENSP00000374036:p.Glu619Lys					RPH3A_ENST00000447659.2_Missense_Mutation_p.E570K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E619K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E615K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E619K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E570K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E619K|RPH3A_ENST00000549913.2_3'UTR	p.E619K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	20	2352	+			619			C2 2.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1855G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386980	0.95988	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.42	5.42	0.78866	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	D	0.89389	0.6701	M	0.89968	3.075	0.80722	D	1	P;P;P;P	0.52170	0.94;0.951;0.951;0.94	P;P;P;P	0.60415	0.643;0.874;0.874;0.728	D	0.91271	0.5044	10	0.72032	D	0.01	.	17.995	0.89181	0.0:0.0:1.0:0.0	.	570;619;619;615	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	K	619;619;570;615;619;570;619;271	ENSP00000440384:E619K;ENSP00000374036:E619K;ENSP00000413254:E570K;ENSP00000448297:E615K;ENSP00000405357:E619K;ENSP00000450347:E570K;ENSP00000408889:E619K	ENSP00000374036:E619K	E	+	1	0	RPH3A	111816845	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.476000	0.97823	2.545000	0.85829	0.585000	0.79938	GAG		0.448	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		6	23	0	0	0	1	0	6	23				
LRRC37A6P	387646	broad.mit.edu	37	10	27538942	27538942	+	lincRNA	SNP	T	T	C	rs590142	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:27538942T>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCATTATTAATAGGTTCCGGA	0.537													T|||	1451	0.289736	0.0726	0.2291	5008	,	,		18872	0.4732		0.2604	False		,,,				2504	0.4673					ENST00000574842.1																			0															T		154,1230		9,136,547	39.0	33.0	35.0			-1.3	0.0	10	dbSNP_83	35	727,2455		84,559,948	no	intergenic				93,695,1495	CC,CT,TT		22.8473,11.1272,19.2948			27538942	881,3685	692	1591	2283			387646							g.chr10:27538942T>C																													10.37:g.27538942T>C						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.537	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			8	152	0	0	0	1	0	8	152				
CASC3	22794	broad.mit.edu	37	17	38320341	38320341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:38320341G>A	ENST00000264645.7	+	7	1619	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	465	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						ACTTGAGCAAGATGTGGCACA	0.517																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1393-1395)Gat>Aat		cancer susceptibility candidate 3							53.0	49.0	51.0					17																	38320341		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38320341G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1393G>A	17.37:g.38320341G>A	ENSP00000264645:p.Asp465Asn						p.D465N	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1619	+			465			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1393G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379572	0.42207	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.08	5.08	0.68730	.	0.193900	0.53938	D	0.000057	T	0.44265	0.1285	N	0.19112	0.55	0.58432	D	0.999999	P;P	0.46395	0.877;0.877	P;B	0.45829	0.494;0.417	T	0.22661	-1.0210	9	0.20046	T	0.44	-15.5614	18.2812	0.90098	0.0:0.0:1.0:0.0	.	465;465	B4DKR6;O15234	.;CASC3_HUMAN	N	465	.	ENSP00000264645:D465N	D	+	1	0	CASC3	35573867	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	7.716000	0.84723	2.648000	0.89879	0.563000	0.77884	GAT		0.517	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		13	58	0	0	0	1	0	13	58				
PLA2G15	23659	broad.mit.edu	37	16	68289698	68289698	+	Missense_Mutation	SNP	C	C	T	rs374139093		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:68289698C>T	ENST00000219345.5	+	5	615	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	RP11-96D1.7_ENST00000569843.1_RNA|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000444212.2_Intron	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	178					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTGGCCCTCCGCGAGATGAT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17775	0.0		0.001	False		,,,				2504	0.0					ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(532-534)Cgc>Tgc		phospholipase A2, group XV		C	CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	49.0	52.0	51.0		532	6.0	1.0	16		51	0,8600		0,0,4300	no	missense	PLA2G15	NM_012320.3	180	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	178/413	68289698	1,12995	2198	4300	6498	SO:0001583	missense	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68289698C>T	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.532C>T	16.37:g.68289698C>T	ENSP00000219345:p.Arg178Cys					PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Intron|PLA2G15_ENST00000566188.1_Intron	p.R178C	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			5	615	+			178					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.532C>T	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416061	0.83449	2.27E-4	0.0	ENSG00000103066	ENST00000219345	D	0.95756	-3.8	5.97	5.97	0.96955	.	0.163970	0.56097	D	0.000021	D	0.97448	0.9165	M	0.78456	2.415	0.80722	D	1	D	0.71674	0.998	P	0.60886	0.88	D	0.97548	1.0090	10	0.87932	D	0	-3.1834	20.0384	0.97572	0.0:1.0:0.0:0.0	.	178	Q8NCC3	PAG15_HUMAN	C	178	ENSP00000219345:R178C	ENSP00000219345:R178C	R	+	1	0	PLA2G15	66847199	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	3.036000	0.49767	2.837000	0.97791	0.655000	0.94253	CGC		0.607	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		26	33	0	0	0	1	0	26	33				
CLPTM1	1209	broad.mit.edu	37	19	45496031	45496031	+	Missense_Mutation	SNP	C	C	T	rs148362509	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:45496031C>T	ENST00000337392.5	+	14	2036	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	CLPTM1_ENST00000546079.1_Missense_Mutation_p.T527M|CLPTM1_ENST00000541297.2_Missense_Mutation_p.T615M	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	629					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCACCCACCACGACCACCGCC	0.697													c|||	3	0.000599042	0.0023	0.0	5008	,	,		12363	0.0		0.0	False		,,,				2504	0.0					ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1843-1845)aCg>aTg		cleft lip and palate associated transmembrane protein 1		T	MET/THR	3,4401	6.2+/-15.9	0,3,2199	54.0	59.0	57.0		1886	0.5	0.0	19	dbSNP_134	57	0,8598		0,0,4299	no	missense	CLPTM1	NM_001294.2	81	0,3,6498	TT,TC,CC		0.0,0.0681,0.0231	benign	629/670	45496031	3,12999	2202	4299	6501	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45496031C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1886C>T	19.37:g.45496031C>T	ENSP00000336994:p.Thr629Met					CLPTM1_ENST00000546079.1_Missense_Mutation_p.T527M|CLPTM1_ENST00000337392.5_Missense_Mutation_p.T629M	p.T615M			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	14	2309	+		all_neural(266;0.224)|Ovarian(192;0.231)	629					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1844C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	c	7.608	0.674243	0.14841	6.81E-4	0.0	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	3.87	0.529	0.17095	.	1.962470	0.01859	N	0.036463	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	P;B	0.36733	0.567;0.173	B;B	0.29077	0.098;0.045	T	0.14282	-1.0478	9	0.48119	T	0.1	-6.2189	4.2897	0.10872	0.0:0.6002:0.1886:0.2112	.	615;629	F5H8J3;O96005	.;CLPT1_HUMAN	M	527;615;629;629	.	ENSP00000336994:T629M	T	+	2	0	CLPTM1	50187871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.548000	0.23314	0.231000	0.21079	-0.816000	0.03127	ACG		0.697	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		7	49	0	0	0	1	0	7	49				
KCNG4	93107	broad.mit.edu	37	16	84255948	84255948	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:84255948G>T	ENST00000308251.4	-	3	1503	c.1435C>A	c.(1435-1437)Caa>Aaa	p.Q479K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	479					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCGGTGTTTTGGAGGTGGCGG	0.587																																						ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1435-1437)Caa>Aaa		potassium voltage-gated channel, subfamily G, member 4							108.0	114.0	112.0					16																	84255948		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84255948G>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1435C>A	16.37:g.84255948G>T	ENSP00000312129:p.Gln479Lys						p.Q479K	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1503	-			479					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1435C>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	3.194	-0.165213	0.06461	.	.	ENSG00000168418	ENST00000308251	D	0.96232	-3.95	4.74	4.74	0.60224	.	5.289350	0.00481	N	0.000138	D	0.93782	0.8012	L	0.45581	1.43	0.25580	N	0.986802	B	0.06786	0.001	B	0.06405	0.002	T	0.79145	-0.1924	10	0.02654	T	1	.	10.5804	0.45252	0.0:0.0:0.6981:0.3019	.	479	Q8TDN1	KCNG4_HUMAN	K	479	ENSP00000312129:Q479K	ENSP00000312129:Q479K	Q	-	1	0	KCNG4	82813449	0.309000	0.24518	0.692000	0.30179	0.153000	0.21895	2.108000	0.41854	2.452000	0.82932	0.563000	0.77884	CAA		0.587	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		50	118	1	0	4.1673e-28	1	4.63379e-28	50	118				
EHMT2	10919	broad.mit.edu	37	6	31864767	31864767	+	Splice_Site	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:31864767C>T	ENST00000375537.4	-	2	49		c.e2-1		EHMT2_ENST00000395728.3_Silent_p.Q71Q|EHMT2_ENST00000375528.4_Silent_p.Q71Q|EHMT2_ENST00000480912.1_5'Flank|C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000375530.4_Splice_Site	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGCCTCCCCCTGGGAGGGGA	0.662																																						ENST00000375537.4																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.e2-1		euchromatic histone-lysine N-methyltransferase 2							89.0	98.0	95.0					6																	31864767		1511	2709	4220	SO:0001630	splice_region_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31864767C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.43-1G>A	6.37:g.31864767C>T						EHMT2_ENST00000375528.4_Silent_p.Q71Q|EHMT2_ENST00000375530.4_Splice_Site|EHMT2_ENST00000395728.3_Silent_p.Q71Q		NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN			2	49	-								B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Splice_Site	SNP	ENST00000375537.4	37		CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.754165	0.31046	.	.	ENSG00000204371	ENST00000375530;ENST00000375537	.	.	.	3.94	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2584	0.31771	0.237:0.763:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EHMT2	31972746	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.160000	0.31761	1.948000	0.56530	0.505000	0.49811	.		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	Intron	5	90	0	0	0	1	0	5	90				
CPS1	1373	broad.mit.edu	37	2	211471538	211471538	+	Missense_Mutation	SNP	C	C	T	rs147443001		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:211471538C>T	ENST00000233072.5	+	18	2261	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	CPS1_ENST00000451903.2_Missense_Mutation_p.R238C|CPS1_ENST00000430249.2_Missense_Mutation_p.R695C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	689	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAATGTTGTTCGCCACTTGGG	0.468																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2065-2067)Cgc>Tgc		carbamoyl-phosphate synthase 1, mitochondrial		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	170.0	146.0	154.0		2083,712,2065	5.8	1.0	2	dbSNP_134	154	0,8600		0,0,4300	no	missense,missense,missense	CPS1	NM_001122633.2,NM_001122634.2,NM_001875.4	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	695/1507,238/1050,689/1501	211471538	1,13005	2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211471538C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2065C>T	2.37:g.211471538C>T	ENSP00000233072:p.Arg689Cys					CPS1_ENST00000451903.2_Missense_Mutation_p.R238C|CPS1_ENST00000430249.2_Missense_Mutation_p.R695C	p.R689C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	18	2261	+			689			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2065C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199715	0.94997	2.27E-4	0.0	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97620	-4.46;-4.46;-4.46	5.83	5.83	0.93111	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98799	1.0739	10	0.87932	D	0	-7.1999	20.1952	0.98241	0.0:1.0:0.0:0.0	.	699;689	Q59HF8;P31327	.;CPSM_HUMAN	C	695;697;689;238	ENSP00000402608:R695C;ENSP00000233072:R689C;ENSP00000406136:R238C	ENSP00000233072:R689C	R	+	1	0	CPS1	211179783	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.774000	0.68906	2.781000	0.95711	0.586000	0.80456	CGC		0.468	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			13	67	0	0	0	1	0	13	67				
KRT7	3855	broad.mit.edu	37	12	52627278	52627278	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:52627278C>T	ENST00000331817.5	+	1	381	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	66	Head.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	TCCGCGAGGTCACCATTAACC	0.721																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(196-198)gtC>gtT		keratin 7							18.0	20.0	20.0					12																	52627278		2194	4293	6487	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627278C>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.198C>T	12.37:g.52627278C>T							p.V66V	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	381	+			66			Head.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.198C>T	CCDS8822.1																																																																																				0.721	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		24	14	0	0	0	1	0	24	14				
NEFH	4744	broad.mit.edu	37	22	29886350	29886350	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:29886350G>A	ENST00000310624.6	+	4	2754	c.2721G>A	c.(2719-2721)gaG>gaA	p.E907E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	913	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCACCCCAGAGAAGGAGGCTC	0.498																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2719-2721)gaG>gaA		neurofilament, heavy polypeptide							54.0	59.0	58.0					22																	29886350		2203	4300	6503	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29886350G>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2721G>A	22.37:g.29886350G>A							p.E907E	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2754	+			913			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.2721G>A	CCDS13858.1																																																																																				0.498	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		4	21	0	0	0	1	0	4	21				
PARD6G	84552	broad.mit.edu	37	18	77960806	77960806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:77960806C>A	ENST00000353265.3	-	2	279	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	PARD6G_ENST00000470488.2_Nonsense_Mutation_p.E28*|AC139100.3_ENST00000588950.1_RNA	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	28	OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CTTCGGAATTCCGCCCCAAAC	0.458																																						ENST00000353265.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(82-84)Gaa>Taa		par-6 family cell polarity regulator gamma							44.0	43.0	43.0					18																	77960806		2203	4300	6503	SO:0001587	stop_gained	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77960806C>A		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.82G>T	18.37:g.77960806C>A	ENSP00000343144:p.Glu28*					AC139100.3_ENST00000588950.1_RNA|PARD6G_ENST00000470488.2_Nonsense_Mutation_p.E28*	p.E28*	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	2	279	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	28			OPR.		A8QM57	Nonsense_Mutation	SNP	ENST00000353265.3	37	c.82G>T	CCDS12022.1	.	.	.	.	.	.	.	.	.	.	C	40	8.180648	0.98693	.	.	ENSG00000178184	ENST00000353265	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.4713	18.1722	0.89749	0.0:1.0:0.0:0.0	.	.	.	.	X	28	.	.	E	-	1	0	PARD6G	76061797	1.000000	0.71417	0.956000	0.39512	0.887000	0.51463	6.639000	0.74314	2.830000	0.97506	0.655000	0.94253	GAA		0.458	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		3	20	1	0	0.004672	1	0.004672	3	20				
ZNF252P	286101	broad.mit.edu	37	8	146220446	146220446	+	RNA	SNP	G	G	A	rs4489360	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:146220446G>A	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						TGGCACATACGAGATCTCTGA	0.502													G|||	1531	0.305711	0.553	0.3372	5008	,	,		20599	0.3214		0.0974	False		,,,				2504	0.1472					ENST00000426361.2																			0				endometrium(1)	1																																														286101							g.chr8:146220446G>A	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146220446G>A								NR_023392.1						0	245	-									RNA	SNP	ENST00000426361.2	37																																																																																						0.502	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		3	31	0	0	0	1	0	3	31				
ATP12A	479	broad.mit.edu	37	13	25265103	25265103	+	Intron	SNP	A	A	G	rs7981616	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:25265103A>G	ENST00000381946.3	+	8	966				ATP12A_ENST00000218548.6_Splice_Site_p.A267A			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide						ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGAATAAAGCATCTACTTCCC	0.572													a|||	1479	0.295327	0.1747	0.3617	5008	,	,		20322	0.4762		0.1899	False		,,,				2504	0.3333				Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.e8-1		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)	A	,	775,3631	311.9+/-292.3	68,639,1496	122.0	117.0	119.0		801,	-1.8	0.0	13	dbSNP_116	119	1883,6717	335.3+/-321.3	225,1433,2642	yes	coding-synonymous-near-splice,intron	ATP12A	NM_001185085.1,NM_001676.5	,	293,2072,4138	GG,GA,AA		21.8953,17.5897,20.4367	,	267/1046,	25265103	2658,10348	2203	4300	6503	SO:0001627	intron_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25265103A>G	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.800-17A>G	13.37:g.25265103A>G						ATP12A_ENST00000381946.3_Intron	p.A267_splice	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	8	1134	+		Lung SC(185;0.0225)|Breast(139;0.077)	266					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Splice_Site	SNP	ENST00000381946.3	37	c.799_splice	CCDS31948.1																																																																																				0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		6	147	0	0	0	1	0	6	147				
ZNF81	347344	broad.mit.edu	37	X	47774432	47774432	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47774432A>T	ENST00000376954.1	+	6	755	c.387A>T	c.(385-387)ttA>ttT	p.L129F	ZNF81_ENST00000338637.7_Missense_Mutation_p.L129F			P51508	ZNF81_HUMAN	zinc finger protein 81	129					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)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTATTTTAGAAGAATTGT	0.353																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(385-387)ttA>ttT		zinc finger protein 81							33.0	28.0	30.0					X																	47774432		1839	4084	5923	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774432A>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.387A>T	X.37:g.47774432A>T	ENSP00000366153:p.Leu129Phe					ZNF81_ENST00000338637.7_Missense_Mutation_p.L129F	p.L129F			P51508	ZNF81_HUMAN			6	755	+		all_lung(315;0.0973)	129					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.387A>T	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330726	0.24167	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.08634	3.07;3.07	3.79	2.56	0.30785	.	0.000000	0.34156	N	0.004206	T	0.04634	0.0126	L	0.27053	0.805	0.20563	N	0.999882	B	0.10296	0.003	B	0.06405	0.002	T	0.44997	-0.9291	10	0.08381	T	0.77	.	6.2551	0.20870	0.7444:0.2556:0.0:0.0	.	129	P51508	ZNF81_HUMAN	F	129	ENSP00000366153:L129F;ENSP00000341151:L129F	ENSP00000341151:L129F	L	+	3	2	ZNF81	47659376	1.000000	0.71417	0.985000	0.45067	0.657000	0.38888	1.463000	0.35277	0.604000	0.29930	0.486000	0.48141	TTA		0.353	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		24	31	0	0	0	1	0	24	31				
KIF12	113220	broad.mit.edu	37	9	116859596	116859596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:116859596C>T	ENST00000374118.3	-	4	454	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	206	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGCAAAAGTTCCATCAGGGCC	0.607																																						ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(217-219)Gaa>Aaa		kinesin family member 12							47.0	46.0	47.0					9																	116859596		2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116859596C>T	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.217G>A	9.37:g.116859596C>T	ENSP00000363232:p.Glu73Lys					KIF12_ENST00000473174.1_Intron	p.E73K	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			4	454	-			206			Kinesin-motor.		Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.217G>A	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278247	0.23307	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.74632	-0.86	5.36	4.4	0.53042	Kinesin, motor domain (4);	0.267293	0.32218	N	0.006402	T	0.57504	0.2058	N	0.20610	0.595	0.35198	D	0.774037	B	0.10296	0.003	B	0.13407	0.009	T	0.59936	-0.7360	10	0.23302	T	0.38	.	11.1948	0.48707	0.0:0.8146:0.1854:0.0	.	206	Q96FN5	KIF12_HUMAN	K	73;206	ENSP00000363232:E73K	ENSP00000259410:E206K	E	-	1	0	KIF12	115899417	0.660000	0.27420	0.999000	0.59377	0.292000	0.27327	0.729000	0.26028	2.481000	0.83766	0.555000	0.69702	GAA		0.607	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		3	30	0	0	0	1	0	3	30				
RBM34	23029	broad.mit.edu	37	1	235301488	235301488	+	Splice_Site	SNP	G	G	A	rs372922102		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:235301488G>A	ENST00000408888.3	-	7	933	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	RBM34_ENST00000495224.1_5'Flank|RBM34_ENST00000366606.3_Splice_Site_p.R230C			P42696	RBM34_HUMAN	RNA binding motif protein 34	235	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGAATTTTACGTCTACACCAA	0.333																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.e7-1		RNA binding motif protein 34		G	CYS/ARG	1,3683		0,1,1841	60.0	55.0	56.0		703	4.6	1.0	1		56	0,8164		0,0,4082	no	missense-near-splice	RBM34	NM_015014.2	180	0,1,5923	AA,AG,GG		0.0,0.0271,0.0084	probably-damaging	235/431	235301488	1,11847	1842	4082	5924	SO:0001630	splice_region_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235301488G>A		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.702-1C>T	1.37:g.235301488G>A						RBM34_ENST00000366606.3_Splice_Site_p.R230_splice	p.R235_splice			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		7	933	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	235			RRM 1.		A8K8J7|Q8N2Z8|Q9H5A1	Splice_Site	SNP	ENST00000408888.3	37	c.701_splice	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173632	0.57584	2.71E-4	0.0	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.39787	2.35;2.36;1.06	5.51	4.6	0.57074	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.53373	-0.8448	10	0.87932	D	0	-9.3012	9.6326	0.39789	0.073:0.0:0.7852:0.1418	.	235	P42696	RBM34_HUMAN	C	235;230;213	ENSP00000386226:R235C;ENSP00000355565:R230C;ENSP00000400000:R213C	ENSP00000355565:R230C	R	-	1	0	RBM34	233368111	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	4.311000	0.59147	1.344000	0.45657	0.585000	0.79938	CGT		0.333	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014	Missense_Mutation	11	15	0	0	0	1	0	11	15				
ESRP1	54845	broad.mit.edu	37	8	95683890	95683890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:95683890G>C	ENST00000433389.2	+	11	1633	c.1443G>C	c.(1441-1443)ttG>ttC	p.L481F	ESRP1_ENST00000423620.2_Missense_Mutation_p.L481F|ESRP1_ENST00000358397.5_Missense_Mutation_p.L481F|ESRP1_ENST00000454170.2_Missense_Mutation_p.L481F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	481	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ACATGGTTTTGAATCACCAGG	0.383																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(1441-1443)ttG>ttC		epithelial splicing regulatory protein 1							39.0	38.0	38.0					8																	95683890		1901	4138	6039	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683890G>C	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1443G>C	8.37:g.95683890G>C	ENSP00000405738:p.Leu481Phe					ESRP1_ENST00000454170.2_Missense_Mutation_p.L481F|ESRP1_ENST00000358397.5_Missense_Mutation_p.L481F|ESRP1_ENST00000423620.2_Missense_Mutation_p.L481F	p.L481F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			11	1633	+			481			RRM 3.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1443G>C	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362448|3.362448	0.61403|0.61403	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.08807	.|3.05;3.05;3.05;3.05;3.05	4.98|4.98	2.69|2.69	0.31865|0.31865	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15435|0.15435	0.0372|0.0372	L|L	0.52364|0.52364	1.645|1.645	0.53688|0.53688	D|D	0.999975|0.999975	.|D;D;P;P;P;D	.|0.89917	.|1.0;1.0;0.679;0.91;0.819;0.999	.|D;D;B;P;P;D	.|0.81914	.|0.995;0.995;0.384;0.737;0.614;0.994	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.54805	.|T	.|0.06	-10.0652|-10.0652	0.7579|0.7579	0.01002|0.01002	0.17:0.2442:0.3368:0.249|0.17:0.2442:0.3368:0.249	.|.	.|481;481;481;481;481;481	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	Q|F	347|481;481;481;481;340	.|ENSP00000407349:L481F;ENSP00000405738:L481F;ENSP00000351168:L481F;ENSP00000402766:L481F;ENSP00000429125:L340F	.|ENSP00000351168:L481F	E|L	+|+	1|3	0|2	ESRP1|ESRP1	95753066|95753066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.283000|1.283000	0.33237|0.33237	1.160000|1.160000	0.42584|0.42584	0.563000|0.563000	0.77884|0.77884	GAA|TTG		0.383	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		7	33	0	0	0	1	0	7	33				
CCER1	196477	broad.mit.edu	37	12	91348029	91348029	+	Missense_Mutation	SNP	G	G	A	rs377744456		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:91348029G>A	ENST00000358859.2	-	1	924	c.491C>T	c.(490-492)gCg>gTg	p.A164V	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	164																	GCTCACATCCGCTGGCGGGCT	0.687																																						ENST00000358859.2																			0											c.(490-492)gCg>gTg		coiled-coil glutamate-rich protein 1		G	VAL/ALA	0,4402		0,0,2201	25.0	28.0	27.0		491	-7.5	0.0	12		27	1,8587		0,1,4293	no	missense	C12orf12	NM_152638.2	64	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	164/407	91348029	1,12989	2201	4294	6495	SO:0001583	missense	196477							g.chr12:91348029G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.491C>T	12.37:g.91348029G>A	ENSP00000351727:p.Ala164Val					CCER1_ENST00000548187.1_Intron	p.A164V	NM_152638.2	NP_689851.1					1	924	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.491C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.662785	0.00772	0.0	1.16E-4	ENSG00000197651	ENST00000358859	T	0.28895	1.59	4.52	-7.52	0.01341	.	1.254160	0.06113	N	0.667505	T	0.07548	0.0190	N	0.02539	-0.55	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.21724	-1.0237	10	0.02654	T	1	-4.1099	3.6543	0.08215	0.1666:0.3533:0.3643:0.1158	.	164	Q8TC90	CL012_HUMAN	V	164	ENSP00000351727:A164V	ENSP00000351727:A164V	A	-	2	0	C12orf12	89872160	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.697000	0.05098	-1.726000	0.01370	-1.373000	0.01185	GCG		0.687	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		14	41	0	0	0	1	0	14	41				
RNASEL	6041	broad.mit.edu	37	1	182555479	182555479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:182555479G>A	ENST00000367559.3	-	2	716	c.463C>T	c.(463-465)Cga>Tga	p.R155*	RNASEL_ENST00000539397.1_Nonsense_Mutation_p.R155*|RNASEL_ENST00000444138.1_Nonsense_Mutation_p.R155*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	155					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTGTCTTTCGCCTCAAATTC	0.468																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(463-465)Cga>Tga		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							83.0	68.0	73.0					1																	182555479		2203	4300	6503	SO:0001587	stop_gained	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555479G>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.463C>T	1.37:g.182555479G>A	ENSP00000356530:p.Arg155*					RNASEL_ENST00000444138.1_Nonsense_Mutation_p.R155*|RNASEL_ENST00000539397.1_Nonsense_Mutation_p.R155*	p.R155*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	716	-			155					Q5W0L2|Q6AI46	Nonsense_Mutation	SNP	ENST00000367559.3	37	c.463C>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454662	0.96223	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	.	.	.	5.03	4.11	0.48088	.	0.123972	0.35555	N	0.003130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2432	11.1758	0.48598	0.0:0.0:0.5965:0.4035	.	.	.	.	X	155	.	ENSP00000356530:R155X	R	-	1	2	RNASEL	180822102	0.318000	0.24598	0.005000	0.12908	0.074000	0.17049	1.242000	0.32755	1.115000	0.41800	0.467000	0.42956	CGA		0.468	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		11	20	0	0	0	1	0	11	20				
EHD1	10938	broad.mit.edu	37	11	64627529	64627529	+	Missense_Mutation	SNP	G	G	A	rs137874978		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64627529G>A	ENST00000320631.3	-	3	1036	c.782C>T	c.(781-783)cCg>cTg	p.P261L	EHD1_ENST00000359393.2_Missense_Mutation_p.P261L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	261	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GATGAGGAGCGGGTGGGACCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16731	0.001		0.0	False		,,,				2504	0.0					ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(781-783)cCg>cTg		EH-domain containing 1		G	LEU/PRO	0,4402		0,0,2201	71.0	72.0	72.0		782	5.1	1.0	11	dbSNP_134	72	1,8593	1.2+/-3.3	0,1,4296	no	missense	EHD1	NM_006795.2	98	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	261/535	64627529	1,12995	2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64627529G>A	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.782C>T	11.37:g.64627529G>A	ENSP00000320516:p.Pro261Leu					EHD1_ENST00000359393.2_Missense_Mutation_p.P261L	p.P261L	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			3	1036	-			261					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.782C>T	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919789	0.92249	0.0	1.16E-4	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	T;T;T;T;T	0.52983	1.97;1.97;0.64;1.23;0.66	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	H	0.94886	3.595	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.966	D	0.83539	0.0095	10	0.87932	D	0	.	15.9821	0.80116	0.0:0.0:1.0:0.0	.	261;261	B2R5U3;Q9H4M9	.;EHD1_HUMAN	L	261;261;237;275;125;275;125	ENSP00000320516:P261L;ENSP00000352354:P261L;ENSP00000391429:P125L;ENSP00000404944:P275L;ENSP00000396273:P125L	ENSP00000320516:P261L	P	-	2	0	EHD1	64384105	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.575000	0.98187	2.639000	0.89480	0.561000	0.74099	CCG		0.627	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		8	77	0	0	0	1	0	8	77				
TBX22	50945	broad.mit.edu	37	X	79281158	79281158	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:79281158T>A	ENST00000373294.5	+	4	543	c.515T>A	c.(514-516)aTc>aAc	p.I172N	TBX22_ENST00000373296.3_Missense_Mutation_p.I172N|TBX22_ENST00000373291.1_Missense_Mutation_p.I52N|TBX22_ENST00000442340.1_Missense_Mutation_p.I52N	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	172					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATTTGTGCATCATTCCTAGA	0.498																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(154-156)aTc>aAc		T-box 22							119.0	89.0	99.0					X																	79281158		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281158T>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.515T>A	X.37:g.79281158T>A	ENSP00000362390:p.Ile172Asn					TBX22_ENST00000373291.1_Missense_Mutation_p.I52N|TBX22_ENST00000373294.5_Missense_Mutation_p.I172N|TBX22_ENST00000373296.3_Missense_Mutation_p.I172N	p.I52N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			5	645	+			172					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.155T>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.746131	0.49151	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	4.77	4.77	0.60923	p53-like transcription factor, DNA-binding (1);	0.117868	0.56097	D	0.000039	D	0.91372	0.7278	L	0.60957	1.885	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91879	0.5514	10	0.72032	D	0.01	.	12.252	0.54603	0.0:0.0:0.0:1.0	.	172	Q9Y458	TBX22_HUMAN	N	172;52;172;52	ENSP00000362393:I172N;ENSP00000396394:I52N;ENSP00000362390:I172N;ENSP00000362388:I52N	ENSP00000362388:I52N	I	+	2	0	TBX22	79167814	1.000000	0.71417	0.630000	0.29268	0.009000	0.06853	4.690000	0.61731	1.567000	0.49668	0.486000	0.48141	ATC		0.498	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		11	75	0	0	0	1	0	11	75				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|LILRB5_ENST00000345866.6_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	22	0	0	0	1	0	4	22				
PCDHA5	56143	broad.mit.edu	37	5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140202723G>A	ENST00000529859.1	+	1	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A455T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A455T|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	455	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1363-1365)Gcg>Acg									72.0	74.0	73.0					5																	140202723		2203	4300	6503	SO:0001583	missense	56143							g.chr5:140202723G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1363G>A	5.37:g.140202723G>A	ENSP00000436557:p.Ala455Thr					PCDHA5_ENST00000529619.1_Missense_Mutation_p.A455T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A455T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A455T	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1363	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1363G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674192	0.14841	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59906	0.23;0.23;0.23	3.77	1.92	0.25849	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.26738	0.0654	N	0.05199	-0.095	0.09310	N	1	B;P;B	0.40266	0.152;0.71;0.364	B;B;B	0.26517	0.07;0.052;0.036	T	0.07404	-1.0774	9	0.44086	T	0.13	.	6.0873	0.19975	0.1694:0.2873:0.5432:0.0	.	455;455;455	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	455	ENSP00000433416:A455T;ENSP00000436557:A455T;ENSP00000367366:A455T	ENSP00000367366:A455T	A	+	1	0	PCDHA5	140182907	0.000000	0.05858	0.844000	0.33320	0.371000	0.29859	-1.613000	0.02059	0.203000	0.20529	0.558000	0.71614	GCG		0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		29	61	0	0	0	1	0	29	61				
FGD1	2245	broad.mit.edu	37	X	54476096	54476096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:54476096G>A	ENST00000375135.3	-	14	2877	c.2144C>T	c.(2143-2145)tCt>tTt	p.S715F		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	715					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTTACTGGAGAGTTGGGTGG	0.532																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2143-2145)tCt>tTt		FYVE, RhoGEF and PH domain containing 1							131.0	132.0	132.0					X																	54476096		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54476096G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2144C>T	X.37:g.54476096G>A	ENSP00000364277:p.Ser715Phe						p.S715F	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			14	2877	-			715					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2144C>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678356	0.47886	.	.	ENSG00000102302	ENST00000375135	T	0.67171	-0.25	5.56	5.56	0.83823	Zinc finger, FYVE/PHD-type (1);	0.000000	0.50627	D	0.000110	T	0.65923	0.2738	N	0.24115	0.695	0.80722	D	1	B;D	0.58268	0.113;0.982	B;P	0.53360	0.046;0.724	T	0.69191	-0.5210	10	0.52906	T	0.07	-8.9078	17.2026	0.86910	0.0:0.0:1.0:0.0	.	473;715	B4DS99;P98174	.;FGD1_HUMAN	F	715	ENSP00000364277:S715F	ENSP00000364277:S715F	S	-	2	0	FGD1	54492821	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.952000	0.87827	2.329000	0.79093	0.513000	0.50165	TCT		0.532	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		13	120	0	0	0	1	0	13	120				
PCDHGB1	56104	broad.mit.edu	37	5	140730444	140730444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140730444G>A	ENST00000523390.1	+	1	617	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTCATCGCTTAATCCTG	0.493																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(616-618)cGc>cAc									69.0	68.0	68.0					5																	140730444		1884	4117	6001	SO:0001583	missense	56104							g.chr5:140730444G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.617G>A	5.37:g.140730444G>A	ENSP00000429273:p.Arg206His					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R206H	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	617	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.617G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	0.252	-1.005919	0.02112	.	.	ENSG00000254221	ENST00000523390	T	0.51817	0.69	5.18	-5.94	0.02247	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14700	0.0355	N	0.01109	-1.01	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.43653	-0.9378	9	0.02654	T	1	.	14.2569	0.66058	0.8923:0.0:0.1077:0.0	.	206;206	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	H	206	ENSP00000429273:R206H	ENSP00000429273:R206H	R	+	2	0	PCDHGB1	140710628	0.000000	0.05858	0.030000	0.17652	0.714000	0.41099	-1.027000	0.03592	-1.248000	0.02503	0.563000	0.77884	CGC		0.493	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		32	28	0	0	0	1	0	32	28				
MRPL17	63875	broad.mit.edu	37	11	6704513	6704513	+	Silent	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:6704513G>C	ENST00000288937.6	-	1	119	c.15C>G	c.(13-15)gtC>gtG	p.V5V	MRPL17_ENST00000532676.1_5'Flank	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	5					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCGCTGCAGCGACCGACAGCC	0.632											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288937.6																			0				lung(4)	4						c.(13-15)gtC>gtG		mitochondrial ribosomal protein L17							29.0	29.0	29.0					11																	6704513		2201	4296	6497	SO:0001819	synonymous_variant	63875				translation	ribosome	protein domain specific binding|structural constituent of ribosome	g.chr11:6704513G>C	AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"""Mitochondrial ribosomal proteins / large subunits"""	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.15C>G	11.37:g.6704513G>C			OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636		p.V5V	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	119	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	5					D3DQU3|Q6IAH8|Q96Q53|Q9C066	Silent	SNP	ENST00000288937.6	37	c.15C>G	CCDS31412.1																																																																																				0.632	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384544.1	NM_022061		13	11	0	0	0	1	0	13	11				
FAT4	79633	broad.mit.edu	37	4	126411278	126411278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:126411278C>T	ENST00000394329.3	+	17	13314	c.13301C>T	c.(13300-13302)cCg>cTg	p.P4434L	FAT4_ENST00000335110.5_Missense_Mutation_p.P2675L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4434	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTCCCACCCGTGCCAGAAT	0.607																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13300-13302)cCg>cTg		FAT atypical cadherin 4							82.0	76.0	78.0					4																	126411278		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411278C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13301C>T	4.37:g.126411278C>T	ENSP00000377862:p.Pro4434Leu					FAT4_ENST00000335110.5_Missense_Mutation_p.P2675L	p.P4434L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13314	+			4434			EGF-like 6.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13301C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917146	0.73098	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.93076	-3.16;-3.16	5.17	5.17	0.71159	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.34338	U	0.004053	D	0.97219	0.9091	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.98034	1.0378	10	0.87932	D	0	.	17.6678	0.88208	0.0:1.0:0.0:0.0	.	2675;4434;4433	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	4434;2675	ENSP00000377862:P4434L;ENSP00000335169:P2675L	ENSP00000335169:P2675L	P	+	2	0	FAT4	126630728	1.000000	0.71417	0.973000	0.42090	0.675000	0.39556	7.633000	0.83260	2.395000	0.81488	0.561000	0.74099	CCG		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	36	0	0	0	1	0	45	36				
RNPS1	10921	broad.mit.edu	37	16	2314602	2314602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:2314602T>C	ENST00000565678.1	-	2	588	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	RNPS1_ENST00000569598.2_Missense_Mutation_p.K15E|RNPS1_ENST00000320225.5_Missense_Mutation_p.K15E|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000397086.2_Missense_Mutation_p.K15E|RNPS1_ENST00000568631.1_Missense_Mutation_p.K15E|RNPS1_ENST00000301730.8_Missense_Mutation_p.K15E|RNPS1_ENST00000566458.1_Intron|RNPS1_ENST00000561718.1_Intron|RNPS1_ENST00000566397.1_5'Flank			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	15	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTATTTTCTTTGACTCCTAGC	0.443																																						ENST00000565678.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						c.(43-45)Aaa>Gaa		RNA binding protein S1, serine-rich domain							131.0	127.0	128.0					16																	2314602		2198	4300	6498	SO:0001583	missense	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2314602T>C	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.43A>G	16.37:g.2314602T>C	ENSP00000457723:p.Lys15Glu					RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000561718.1_Intron|RNPS1_ENST00000397086.2_Missense_Mutation_p.K15E|RNPS1_ENST00000320225.5_Missense_Mutation_p.K15E|RNPS1_ENST00000301730.8_Missense_Mutation_p.K15E|RNPS1_ENST00000566458.1_Intron|RNPS1_ENST00000568631.1_Missense_Mutation_p.K15E|RNPS1_ENST00000569598.2_Missense_Mutation_p.K15E	p.K15E			Q15287	RNPS1_HUMAN			2	588	-			15			Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	c.43A>G	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.572366	0.65765	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.08193	3.12;3.12;3.12	6.03	6.03	0.97812	.	0.066142	0.64402	D	0.000007	T	0.13500	0.0327	L	0.38175	1.15	0.80722	D	1	P	0.46578	0.88	P	0.50270	0.636	T	0.00632	-1.1635	10	0.72032	D	0.01	-19.109	12.9467	0.58376	0.0:0.0:0.0:1.0	.	15	Q15287	RNPS1_HUMAN	E	15	ENSP00000315859:K15E;ENSP00000380275:K15E;ENSP00000301730:K15E	ENSP00000301730:K15E	K	-	1	0	RNPS1	2254603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.828000	0.48120	2.310000	0.77875	0.450000	0.29827	AAA		0.443	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		32	41	0	0	0	1	0	32	41				
SENP2	59343	broad.mit.edu	37	3	185347618	185347618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:185347618C>T	ENST00000296257.5	+	17	1996	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	SENP2_ENST00000545472.1_Nonsense_Mutation_p.Q576*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.Q410*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	586					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AATCCTTCATCAGCAGTTGCT	0.468																																						ENST00000296257.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12						c.(1756-1758)Cag>Tag		SUMO1/sentrin/SMT3 specific peptidase 2							193.0	170.0	178.0					3																	185347618		2203	4300	6503	SO:0001587	stop_gained	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185347618C>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1756C>T	3.37:g.185347618C>T	ENSP00000296257:p.Gln586*					SENP2_ENST00000545472.1_Nonsense_Mutation_p.Q576*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.Q410*	p.Q586*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		17	1996	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		586					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Nonsense_Mutation	SNP	ENST00000296257.5	37	c.1756C>T	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	C	36	5.903351	0.97087	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	.	.	.	5.88	5.88	0.94601	.	0.134125	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-9.7424	19.0095	0.92867	0.0:1.0:0.0:0.0	.	.	.	.	X	576;586;457;410	.	ENSP00000296257:Q586X	Q	+	1	0	SENP2	186830312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.853000	0.55941	2.779000	0.95612	0.650000	0.86243	CAG		0.468	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		14	80	0	0	0	1	0	14	80				
PDCL3	79031	broad.mit.edu	37	2	101186128	101186128	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:101186128G>C	ENST00000264254.6	+	4	691	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	105	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTATGTTCAAGAAGTTACCAA	0.428																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(313-315)Gaa>Caa		phosducin-like 3							96.0	95.0	95.0					2																	101186128		2203	4298	6501	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101186128G>C	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.313G>C	2.37:g.101186128G>C	ENSP00000264254:p.Glu105Gln						p.E105Q	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			4	691	+			105					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.313G>C	CCDS33261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.1|24.1	4.490220|4.490220	0.84962|0.84962	.|.	.|.	ENSG00000115539|ENSG00000115539	ENST00000264254;ENST00000416255|ENST00000450127	T;T|.	0.41758|.	0.99;0.99|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68238|0.68238	0.2979|0.2979	L|L	0.46567|0.46567	1.45|1.45	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72338|.	0.977|.	T|T	0.65755|0.65755	-0.6091|-0.6091	10|5	0.40728|.	T|.	0.16|.	-15.9997|-15.9997	18.1468|18.1468	0.89659|0.89659	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105|.	Q9H2J4|.	PDCL3_HUMAN|.	Q|N	105;55|52	ENSP00000264254:E105Q;ENSP00000413936:E55Q|.	ENSP00000264254:E105Q|.	E|K	+|+	1|3	0|2	PDCL3|PDCL3	100552560|100552560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	9.420000|9.420000	0.97426|0.97426	2.347000|2.347000	0.79759|0.79759	0.555000|0.555000	0.69702|0.69702	GAA|AAG		0.428	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		6	77	0	0	0	1	0	6	77				
ZNF646	9726	broad.mit.edu	37	16	31091299	31091299	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:31091299C>T	ENST00000394979.2	+	1	4077	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	ZNF646_ENST00000300850.5_Silent_p.L1218L			O15015	ZN646_HUMAN	zinc finger protein 646	1218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCGGCAGCCTCATCAACCACC	0.637																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3652-3654)ctC>ctT		zinc finger protein 646							30.0	33.0	32.0					16																	31091299		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091299C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3654C>T	16.37:g.31091299C>T						ZNF646_ENST00000300850.5_Silent_p.L1218L	p.L1218L			O15015	ZN646_HUMAN			1	4077	+			1218					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3654C>T																																																																																					0.637	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		12	23	0	0	0	1	0	12	23				
NKX6-1	4825	broad.mit.edu	37	4	85419045	85419045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:85419045C>T	ENST00000295886.4	-	1	558	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	NKX6-1_ENST00000515820.2_5'Flank	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	113	Repressor domain. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		gGCAGGGCGGCCCCCGAGGCC	0.751																																						ENST00000295886.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15						c.(337-339)Gcc>Acc		NK6 homeobox 1							5.0	8.0	7.0					4																	85419045		2044	4052	6096	SO:0001583	missense	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85419045C>T	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.337G>A	4.37:g.85419045C>T	ENSP00000295886:p.Ala113Thr						p.A113T	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	1	558	-		Hepatocellular(203;0.114)	113			Repressor domain (By similarity).			Missense_Mutation	SNP	ENST00000295886.4	37	c.337G>A	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304105	0.40795	.	.	ENSG00000163623	ENST00000295886	D	0.91740	-2.9	3.98	3.13	0.36017	.	0.160540	0.29300	N	0.012554	T	0.79387	0.4437	N	0.08118	0	0.33993	D	0.649329	B	0.28026	0.198	B	0.27608	0.081	T	0.74819	-0.3535	10	0.13853	T	0.58	-7.1083	7.3958	0.26936	0.0:0.8792:0.0:0.1208	.	113	P78426	NKX61_HUMAN	T	113	ENSP00000295886:A113T	ENSP00000295886:A113T	A	-	1	0	NKX6-1	85638069	0.382000	0.25148	1.000000	0.80357	0.960000	0.62799	0.894000	0.28350	0.887000	0.36136	0.484000	0.47621	GCC		0.751	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		2	0	0	0	0	1	0	2	0				
CCDC141	285025	broad.mit.edu	37	2	179730517	179730517	+	Missense_Mutation	SNP	C	C	T	rs139607358	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:179730517C>T	ENST00000420890.2	-	17	2818	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	CCDC141_ENST00000295723.5_Missense_Mutation_p.A326T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	901										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCTCATGGCGCAGTACTCC	0.532													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19581	0.0		0.0	False		,,,				2504	0.0					ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2701-2703)Gcc>Acc		coiled-coil domain containing 141		C	THR/ALA	11,4395	17.9+/-39.9	0,11,2192	363.0	326.0	339.0		2701	-3.2	0.0	2	dbSNP_134	339	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC141	NM_173648.3	58	0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923	benign	901/1531	179730517	12,12994	2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179730517C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2701G>A	2.37:g.179730517C>T	ENSP00000395995:p.Ala901Thr					CCDC141_ENST00000295723.5_Missense_Mutation_p.A326T	p.A901T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2818	-			326					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2701G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.263	0.605627	0.14002	0.002497	1.16E-4	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.43294	0.95;1.34;1.34;1.6	6.07	-3.17	0.05202	.	1.097870	0.06882	N	0.802643	T	0.12305	0.0299	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30909	-0.9962	10	0.07175	T	0.84	1.3125	6.4229	0.21754	0.1061:0.3182:0.0:0.5756	.	326	Q6ZP82	CC141_HUMAN	T	901;345;326;901	ENSP00000395995:A901T;ENSP00000344627:A345T;ENSP00000295723:A326T;ENSP00000390190:A901T	ENSP00000295723:A326T	A	-	1	0	CCDC141	179438762	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.302000	0.08869	-0.808000	0.03180	GCC		0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		43	197	0	0	0	1	0	43	197				
TCEAL6	158931	broad.mit.edu	37	X	101396190	101396190	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:101396190C>T	ENST00000372774.3	-	3	363	c.114G>A	c.(112-114)gcG>gcA	p.A38A	TCEAL6_ENST00000372773.1_Silent_p.A38A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	38	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						tcttcccctccgcgtctggct	0.498																																						ENST00000372774.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(112-114)gcG>gcA		transcription elongation factor A (SII)-like 6							117.0	93.0	101.0					X																	101396190		2203	4300	6503	SO:0001819	synonymous_variant	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396190C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.114G>A	X.37:g.101396190C>T						TCEAL6_ENST00000372773.1_Silent_p.A38A	p.A38A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	363	-			38			Glu-rich.		Q5H9J8	Silent	SNP	ENST00000372774.3	37	c.114G>A	CCDS43978.1																																																																																				0.498	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		12	77	0	0	0	1	0	12	77				
SNHG14	104472715	broad.mit.edu	37	15	25468205	25468205	+	RNA	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:25468205G>C	ENST00000424208.1	+	0	6332				SNORD115-30_ENST00000364117.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-29_ENST00000362834.1_RNA|SNORD115-27_ENST00000364430.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGCCCCCAGATGGTGAGAC	0.592																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25468205G>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25468205G>C								NR_003343.1						0	753	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.592	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			13	9	0	0	0	1	0	13	9				
SPEN	23013	broad.mit.edu	37	1	16203028	16203028	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:16203028C>T	ENST00000375759.3	+	3	940	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	246	Arg-rich.|Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGGTCACCACATTCATCCCA	0.542																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(736-738)Cat>Tat		spen family transcriptional repressor							61.0	58.0	59.0					1																	16203028		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16203028C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.736C>T	1.37:g.16203028C>T	ENSP00000364912:p.His246Tyr					SPEN_ENST00000471538.1_3'UTR	p.H246Y	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	3	940	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	246			Arg-rich.|Ser-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.736C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490881	0.64074	.	.	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.33865	3.0;1.39	5.78	5.78	0.91487	.	.	.	.	.	T	0.51991	0.1707	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.53129	-0.8482	9	0.87932	D	0	-21.8318	20.0118	0.97458	0.0:1.0:0.0:0.0	.	246	Q96T58	MINT_HUMAN	Y	246;205;205	ENSP00000364912:H246Y;ENSP00000388021:H205Y	ENSP00000364906:H205Y	H	+	1	0	SPEN	16075615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.744000	0.94065	0.563000	0.77884	CAT		0.542	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		39	35	0	0	0	1	0	39	35				
PVRL3	25945	broad.mit.edu	37	3	110830979	110830979	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:110830979A>G	ENST00000485303.1	+	2	538	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.Q65R|PVRL3_ENST00000319792.3_Missense_Mutation_p.Q88R	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	88	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACCATAACACAGATTTCATGG	0.403																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(262-264)cAg>cGg		poliovirus receptor-related 3							73.0	69.0	70.0					3																	110830979		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110830979A>G	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.263A>G	3.37:g.110830979A>G	ENSP00000418070:p.Gln88Arg					PVRL3_ENST00000493615.1_Missense_Mutation_p.Q65R|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.Q88R	p.Q88R	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			2	538	+			88			Ig-like V-type.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.263A>G	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.336632	0.81801	.	.	ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	L	0.43554	1.36	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.75161	-0.3415	10	0.72032	D	0.01	.	14.1823	0.65583	1.0:0.0:0.0:0.0	.	65;88	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	R	41;88;88;65;73	ENSP00000418327:Q41R;ENSP00000418070:Q88R;ENSP00000321514:Q88R;ENSP00000420579:Q65R;ENSP00000420479:Q73R	ENSP00000321514:Q88R	Q	+	2	0	PVRL3	112313669	1.000000	0.71417	0.909000	0.35828	0.843000	0.47879	8.058000	0.89460	2.228000	0.72767	0.533000	0.62120	CAG		0.403	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		6	93	0	0	0	1	0	6	93				
FGFR4	2264	broad.mit.edu	37	5	176523713	176523713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:176523713G>A	ENST00000292408.4	+	16	2369	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	FGFR4_ENST00000502906.1_Missense_Mutation_p.M708I|FGFR4_ENST00000292410.3_Missense_Mutation_p.M668I|FGFR4_ENST00000393637.1_Missense_Mutation_p.M668I|FGFR4_ENST00000393648.2_Missense_Mutation_p.M640I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GACATCGGATGGACCGACCCC	0.657										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(2122-2124)atG>atA		fibroblast growth factor receptor 4	Palifermin(DB00039)						53.0	53.0	53.0					5																	176523713		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176523713G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2124G>A	5.37:g.176523713G>A	ENSP00000292408:p.Met708Ile	TSP Lung(9;0.080)				FGFR4_ENST00000292410.3_Missense_Mutation_p.M668I|FGFR4_ENST00000502906.1_Missense_Mutation_p.M708I|FGFR4_ENST00000393648.2_Missense_Mutation_p.M640I|FGFR4_ENST00000393637.1_Missense_Mutation_p.M668I	p.M708I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2369	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	708			Protein kinase.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.2124G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.004460	0.74932	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	4.43	4.43	0.53597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	L	0.35249	1.045	0.80722	D	1	D;D;D	0.64830	0.985;0.982;0.994	D;D;D	0.76575	0.983;0.971;0.988	D	0.88820	0.3298	10	0.87932	D	0	.	16.6665	0.85254	0.0:0.0:1.0:0.0	.	640;668;708	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	I	708;640;708;668;668;936	ENSP00000292408:M708I;ENSP00000377259:M640I;ENSP00000424960:M708I;ENSP00000292410:M668I;ENSP00000377254:M668I	ENSP00000292408:M708I	M	+	3	0	FGFR4	176456319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.866000	0.99616	2.010000	0.58986	0.556000	0.70494	ATG		0.657	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			4	17	0	0	0	1	0	4	17				
PYGB	5834	broad.mit.edu	37	20	25262744	25262744	+	Silent	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:25262744G>T	ENST00000216962.4	+	12	1589	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	493					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCCGGTGGCTGCTGCTGTGCA	0.592																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1477-1479)ctG>ctT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						41.0	49.0	46.0					20																	25262744		2202	4300	6502	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25262744G>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1479G>T	20.37:g.25262744G>T							p.L493L	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			12	1589	+			493					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.1479G>T	CCDS13171.1																																																																																				0.592	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		25	30	1	0	7.07758e-08	1	7.32333e-08	25	30				
GRHL3	57822	broad.mit.edu	37	1	24663602	24663602	+	Missense_Mutation	SNP	C	C	T	rs149044763		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:24663602C>T	ENST00000350501.5	+	5	774	c.647C>T	c.(646-648)cCg>cTg	p.P216L	GRHL3_ENST00000361548.4_Missense_Mutation_p.P216L|GRHL3_ENST00000342072.4_Missense_Mutation_p.P123L|GRHL3_ENST00000236255.4_Missense_Mutation_p.P221L|GRHL3_ENST00000356046.2_Missense_Mutation_p.P170L	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	216					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AAAACCTCCCCGGAACCCCCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17084	0.001		0.0	False		,,,				2504	0.0					ENST00000361548.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(646-648)cCg>cTg		grainyhead-like 3 (Drosophila)							76.0	74.0	75.0					1																	24663602		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663602C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.647C>T	1.37:g.24663602C>T	ENSP00000288955:p.Pro216Leu					GRHL3_ENST00000236255.4_Missense_Mutation_p.P221L|GRHL3_ENST00000356046.2_Missense_Mutation_p.P170L|GRHL3_ENST00000350501.5_Missense_Mutation_p.P216L|GRHL3_ENST00000342072.4_Missense_Mutation_p.P123L	p.P216L	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	5	877	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	216					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.647C>T	CCDS252.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.35	2.508375	0.44660	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11063	3.0;2.81;2.97;3.0;2.99	6.06	5.1	0.69264	.	0.528179	0.20238	N	0.096334	T	0.11537	0.0281	L	0.46157	1.445	0.46203	D	0.998925	B;B;B	0.32829	0.386;0.335;0.335	B;B;B	0.29440	0.102;0.062;0.062	T	0.09574	-1.0668	10	0.28530	T	0.3	-30.8616	15.9698	0.80004	0.0:0.8654:0.1346:0.0	.	170;221;216	A2A297;Q8TE85-2;G3XAF0	.;.;.	L	216;123;216;170;221	ENSP00000354943:P216L;ENSP00000340543:P123L;ENSP00000288955:P216L;ENSP00000348333:P170L;ENSP00000236255:P221L	ENSP00000236255:P221L	P	+	2	0	GRHL3	24536189	0.834000	0.29399	0.996000	0.52242	0.815000	0.46073	1.884000	0.39668	2.882000	0.98803	0.655000	0.94253	CCG		0.567	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		8	27	0	0	0	1	0	8	27				
TFAP2E	339488	broad.mit.edu	37	1	36060122	36060122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:36060122G>T	ENST00000373235.3	+	7	1382	c.1174G>T	c.(1174-1176)Ggc>Tgc	p.G392C		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCACCCATGGCTTCGGTGG	0.587																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(1174-1176)Ggc>Tgc		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							109.0	91.0	97.0					1																	36060122		2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36060122G>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.1174G>T	1.37:g.36060122G>T	ENSP00000362332:p.Gly392Cys						p.G392C	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			7	1382	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	392			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000373235.3	37	c.1174G>T	CCDS393.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372123	0.82573	.	.	ENSG00000116819	ENST00000373235	D	0.99454	-5.92	5.38	4.43	0.53597	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97641	1.0148	10	0.87932	D	0	-24.3316	15.4933	0.75629	0.0:0.0:0.8612:0.1388	.	392	Q6VUC0	AP2E_HUMAN	C	392	ENSP00000362332:G392C	ENSP00000362332:G392C	G	+	1	0	TFAP2E	35832709	1.000000	0.71417	0.945000	0.38365	0.857000	0.48899	9.857000	0.99534	2.512000	0.84698	0.561000	0.74099	GGC		0.587	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		35	44	1	0	4.11147e-13	1	4.50448e-13	35	44				
CNN3	1266	broad.mit.edu	37	1	95367290	95367290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:95367290C>G	ENST00000370206.4	-	5	819	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	CNN3_ENST00000394202.4_Missense_Mutation_p.E100Q|CNN3_ENST00000538964.1_Missense_Mutation_p.E146Q|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000545882.1_Missense_Mutation_p.E105Q	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	146					actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTTTGTTTTTCTGCATACTTA	0.363																																						ENST00000370206.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18						c.(436-438)Gaa>Caa		calponin 3, acidic							124.0	108.0	113.0					1																	95367290		2203	4300	6503	SO:0001583	missense	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95367290C>G	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.436G>C	1.37:g.95367290C>G	ENSP00000359225:p.Glu146Gln					CNN3_ENST00000545882.1_Missense_Mutation_p.E105Q|CNN3_ENST00000394202.4_Missense_Mutation_p.E100Q|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.E146Q	p.E146Q	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	5	819	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	146					B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	c.436G>C	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938023	0.73557	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882;ENST00000415017	T;T;T;T;T	0.54675	0.56;0.56;1.41;1.06;1.06	5.63	5.63	0.86233	Calponin homology domain (2);	0.048349	0.85682	D	0.000000	T	0.38532	0.1044	L	0.47190	1.495	0.58432	D	0.999997	B;B	0.32324	0.364;0.305	B;B	0.34931	0.192;0.19	T	0.23261	-1.0193	10	0.28530	T	0.3	-22.498	19.6776	0.95943	0.0:1.0:0.0:0.0	.	100;146	F8WA86;Q15417	.;CNN3_HUMAN	Q	146;146;100;105;105	ENSP00000359225:E146Q;ENSP00000437665:E146Q;ENSP00000377752:E100Q;ENSP00000440081:E105Q;ENSP00000401452:E105Q	ENSP00000359225:E146Q	E	-	1	0	CNN3	95139878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.731000	0.68554	2.633000	0.89246	0.650000	0.86243	GAA		0.363	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		9	33	0	0	0	1	0	9	33				
FOCAD	54914	broad.mit.edu	37	9	20981650	20981650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:20981650G>A	ENST00000380249.1	+	40	4967	c.4603G>A	c.(4603-4605)Ggg>Agg	p.G1535R	FOCAD_ENST00000605086.1_Missense_Mutation_p.G971R|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1535R	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1535						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGAAGCTACTGGGAAAATTTT	0.463																																						ENST00000380249.1																			0											c.(4603-4605)Ggg>Agg		focadhesin							45.0	48.0	47.0					9																	20981650		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20981650G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4603G>A	9.37:g.20981650G>A	ENSP00000369599:p.Gly1535Arg					FOCAD_ENST00000605086.1_Missense_Mutation_p.G971R|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1535R	p.G1535R	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			40	4967	+			1535					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4603G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	8.925	0.962005	0.18583	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.17854	2.25;2.25	5.96	5.07	0.68467	.	0.355051	0.31415	N	0.007698	T	0.10465	0.0256	N	0.12182	0.205	0.38189	D	0.939862	B	0.02656	0.0	B	0.09377	0.004	T	0.15838	-1.0423	10	0.16420	T	0.52	-14.3244	15.2213	0.73313	0.067:0.0:0.933:0.0	.	1535	Q5VW36	K1797_HUMAN	R	1535	ENSP00000369599:G1535R;ENSP00000344307:G1535R	ENSP00000344307:G1535R	G	+	1	0	KIAA1797	20971650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.856000	0.69518	1.541000	0.49316	0.655000	0.94253	GGG		0.463	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		13	43	0	0	0	1	0	13	43				
CLCC1	23155	broad.mit.edu	37	1	109479802	109479803	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:109479802_109479803delTC	ENST00000369971.2	-	10	1408_1409	c.1279_1280delGA	c.(1279-1281)gatfs	p.D427fs	CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.D427fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.D242fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	427						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CAAGTCAACATCTCTCTCTCTC	0.52																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1279-1281)tfs		chloride channel CLIC-like 1																																				SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109479802_109479803delTC	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1279_1280delGA	1.37:g.109479812_109479813delTC	ENSP00000358988:p.Asp427fs					CLCC1_ENST00000348264.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.D427fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.D306fs	p.D427fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	10	1408_1409	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	427					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1279_1280delGA	CCDS41362.1																																																																																				0.520	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		33	68						33	68	---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50144226	50144227	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:50144226_50144227delAC	ENST00000347869.3	+	11	1057_1058	c.882_883delAC	c.(880-885)ttacagfs	p.Q295fs		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	295	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCAGATATTACAGAGTCTCCA	0.396																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(880-885)ttagfs		RNA binding motif protein 5																																				SO:0001589	frameshift_variant	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50144226_50144227delAC	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.882_883delAC	3.37:g.50144226_50144227delAC	ENSP00000343054:p.Gln295fs						p.LQ294fs	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1057_1058	+			294			RRM 2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Frame_Shift_Del	DEL	ENST00000347869.3	37	c.882_883delAC	CCDS2810.1																																																																																				0.396	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		32	19						32	19	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189526228	189526229	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:189526228_189526229insA	ENST00000264731.3	+	4	581_582	c.492_493insA	c.(493-495)atcfs	p.I165fs	TP63_ENST00000392460.3_Frame_Shift_Ins_p.I165fs|TP63_ENST00000354600.5_Frame_Shift_Ins_p.I71fs|TP63_ENST00000418709.2_Frame_Shift_Ins_p.I165fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.I165fs|TP63_ENST00000392461.3_Frame_Shift_Ins_p.I71fs|TP63_ENST00000320472.5_Frame_Shift_Ins_p.I165fs|TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Frame_Shift_Ins_p.I71fs|TP63_ENST00000456148.1_Frame_Shift_Ins_p.I71fs|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Frame_Shift_Ins_p.I71fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	165					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCACCCGCCATCCCCTCCAA	0.644										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(490-495)gctcccfs		tumor protein p63																																				SO:0001589	frameshift_variant	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526228_189526229insA	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.493dupA	3.37:g.189526229_189526229dupA	ENSP00000264731:p.Ile165fs	HNSCC(45;0.13)				TP63_ENST00000354600.5_Frame_Shift_Ins_p.P71fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.P165fs|TP63_ENST00000392463.2_Frame_Shift_Ins_p.P71fs|TP63_ENST00000418709.2_Frame_Shift_Ins_p.P165fs|TP63_ENST00000437221.1_Frame_Shift_Ins_p.P71fs|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Frame_Shift_Ins_p.P71fs|TP63_ENST00000320472.5_Frame_Shift_Ins_p.P165fs|TP63_ENST00000392461.3_Frame_Shift_Ins_p.P71fs|TP63_ENST00000392460.3_Frame_Shift_Ins_p.P165fs	p.P165fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	581_582	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		165					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Frame_Shift_Ins	INS	ENST00000264731.3	37	c.492_493insA	CCDS3293.1																																																																																				0.644	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		54	67						54	67	---	---	---	---
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143|rs71636744|rs370806504	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:3951121_3951122insTGTC	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		cgttttcACTTTGTGCAGGAAG	0.515														4218	0.842252	0.9834	0.8357	5008	,	,		15370	0.8373		0.7694	False		,,,				2504	0.7362					ENST00000281228.8																			0																																																			0							g.chr4:3951121_3951122insTGTC			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3951121_3951122insTGTC						FAM86EP_ENST00000313946.8_RNA								0	344	-									RNA	INS	ENST00000313946.8	37																																																																																						0.515	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			5	9						5	9	---	---	---	---
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:25921520delT	ENST00000265425.3	-	3	381	c.361delA	c.(361-363)atgfs	p.M121fs	SLC17A2_ENST00000377850.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453																																						ENST00000377850.3																			1	Deletion - Frameshift(1)	p.M121fs*7(1)	ovary(1)	endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						c.(361-363)tgfs		solute carrier family 17, member 2				26,4238		13,0,2119	136.0	124.0	128.0			5.0	1.0	6		129	35,8219		16,3,4108	no	frameshift	SLC17A2	NM_005835.2		29,3,6227	A1A1,A1R,RR		0.424,0.6098,0.4873			25921520	61,12457	2203	4300	6503	SO:0001589	frameshift_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921520delT	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.361delA	6.37:g.25921520delT	ENSP00000265425:p.Met121fs					SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs	p.M121fs			O00624	NPT3_HUMAN			4	885	-			121					A6NK81|A6NLD6|Q5TB84|Q76P85	Frame_Shift_Del	DEL	ENST00000265425.3	37	c.361delA																																																																																					0.453	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			7	76						7	76	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320|rs200076851|rs377514954		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TTATTTGTCAAGgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			6967							g.chr7:38284884_38284885insGG	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886dupGG														0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		19	53						19	53	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78855573	78855575	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:78855573_78855575delGAA	ENST00000545128.1	+	24	3653_3655	c.3115_3117delGAA	c.(3115-3117)gaadel	p.E1040del		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1040	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTCCCTTGTGAAGAAGGATGTC	0.429																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(3115-3117)del		proprotein convertase subtilisin/kexin type 5																																				SO:0001651	inframe_deletion	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78855573_78855575delGAA		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3115_3117delGAA	9.37:g.78855576_78855578delGAA	ENSP00000446280:p.Glu1040del						p.E1040del	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			24	3653_3655	+			742					F5H2G7|Q13527|Q96EP4	In_Frame_Del	DEL	ENST00000545128.1	37	c.3115_3117delGAA	CCDS55320.1																																																																																				0.429	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		4	2						4	2	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045880	7045885	+	In_Frame_Del	DEL	CAGCAA	CAGCAA	-	rs370414886|rs201442555		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:7045880_7045885delCAGCAA	ENST00000356654.4	+	5	1687_1692	c.1450_1455delCAGCAA	c.(1450-1455)cagcaadel	p.QQ500del	ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	500	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCATCACCACcagcaacagcaacagc	0.626														311	0.0621006	0.149	0.0937	5008	,	,		16080	0.0397		0.002	False		,,,				2504	0.0072					ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1450-1455)del		atrophin 1																																				SO:0001651	inframe_deletion	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045880_7045885delCAGCAA	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1450_1455delCAGCAA	12.37:g.7045886_7045891delCAGCAA	ENSP00000349076:p.Gln500_Gln501del					ATN1_ENST00000396684.2_In_Frame_Del_p.QQ500del	p.QQ500del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1687_1692	+			500			Poly-Gln.		Q99495|Q99621|Q9UEK7	In_Frame_Del	DEL	ENST00000356654.4	37	c.1450_1455delCAGCAA	CCDS31734.1																																																																																				0.626	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		30	316						30	316	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	7	25						7	25	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97043730	97043733	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:97043730_97043733delACAA	ENST00000524981.4	+	35	4775_4778	c.4752_4755delACAA	c.(4750-4755)acacaafs	p.TQ1584fs				Q96N23	CL055_HUMAN		201																	TGTCCAAGACACAAACAGTTTATG	0.299																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(103-108)acfs																																						SO:0001589	frameshift_variant	144535							g.chr12:97043730_97043733delACAA																												ENST00000524981.4:c.4752_4755delACAA	12.37:g.97043730_97043733delACAA	ENSP00000431759:p.Thr1584fs						p.TQ35fs			Q6ZTY8	CL063_HUMAN			2	105_108	+			9						Frame_Shift_Del	DEL	ENST00000524981.4	37	c.105_108delACAA																																																																																					0.299	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			23	37						23	37	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			5	9						5	9	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138373	20138374	+	RNA	INS	-	-	AAG	rs375739374|rs542749146		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:20138373_20138374insAAG	ENST00000548261.1	+	0	391																											GAAACAaaagaaagaaagaaag	0.396																																						ENST00000548261.1																			0																																																			0							g.chr14:20138373_20138374insAAG																													14.37:g.20138374_20138376dupAAG														0	391	+									RNA	INS	ENST00000548261.1	37																																																																																						0.396	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			7	7						7	7	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23447637	23447651	+	In_Frame_Del	DEL	TGCACTTGATACAGG	TGCACTTGATACAGG	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:23447637_23447651delTGCACTTGATACAGG	ENST00000262713.2	-	2	1385_1399	c.1010_1024delCCTGTATCAAGTGCA	c.(1009-1026)acctgtatcaagtgcaac>aac	p.TCIKC337del	AJUBA_ENST00000361265.4_In_Frame_Del_p.TCIKC337del|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_5'Flank	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	337	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ATGCCTTTGTTGCACTTGATACAGGTGCCTGAGAA	0.54																																						ENST00000262713.2																			0											c.(1009-1026)aac>a		ajuba LIM protein																																				SO:0001651	inframe_deletion	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447637_23447651delTGCACTTGATACAGG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1010_1024delCCTGTATCAAGTGCA	14.37:g.23447637_23447651delTGCACTTGATACAGG	ENSP00000262713:p.Thr337_Cys341del					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_In_Frame_Del_p.TCIKCN337del	p.TCIKCN337del	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			2	1385_1399	-			337			LIM zinc-binding 1.		A8MX18|D3DS37	In_Frame_Del	DEL	ENST00000262713.2	37	c.1010_1024delCCTGTATCAAGTGCA	CCDS9581.1																																																																																				0.540	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			43	51						43	51	---	---	---	---
TMEM30B	161291	broad.mit.edu	37	14	61747707	61747708	+	In_Frame_Ins	INS	-	-	AGGCCC	rs11538992		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:61747707_61747708insAGGCCC	ENST00000555868.1	-	1	850_851	c.158_159insGGGCCT	c.(157-159)ctc>ctGGGCCTc	p.53_53L>LGL	TMEM30B_ENST00000355702.2_In_Frame_Ins_p.53_53L>LGL|TMEM30B_ENST00000557163.1_Intron	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	53					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		AGGAGTAGTAGAGGCCCAGGCC	0.703																																						ENST00000555868.1																			0				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6						c.(157-159)cta>cGGGCCTta		transmembrane protein 30B																																				SO:0001652	inframe_insertion	161291					integral to membrane		g.chr14:61747707_61747708insAGGCCC	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.153_158dupGGGCCT	14.37:g.61747708_61747713dupAGGCCC	ENSP00000450842:p.GlyLeu53dup					TMEM30B_ENST00000355702.2_In_Frame_Ins_p.52_53insRA|TMEM30B_ENST00000557163.1_Intron	p.52_53insRA	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)	1	850_851	-			52					B3KR84|Q14D00	In_Frame_Ins	INS	ENST00000555868.1	37	c.158_159insGGGCCT	CCDS32093.1																																																																																				0.703	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844		2	4						2	4	---	---	---	---
IMP3	55272	broad.mit.edu	37	15	75932053	75932054	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:75932053_75932054insGC	ENST00000314852.2	-	2	1399_1400	c.456_457insGC	c.(454-459)cgcagcfs	p.S153fs	CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000403490.1_Frame_Shift_Ins_p.S153fs|IMP3_ENST00000565349.1_5'Flank			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	141					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						TCCTCCATGCTGCGCGTGACAA	0.609																																						ENST00000314852.2																			0				large_intestine(1)	1						c.(454-459)cggcatfs		IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)																																				SO:0001589	frameshift_variant	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75932053_75932054insGC	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"""mitochondrial ribosomal protein S4"", ""chromosome 15 open reading frame 12"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.455_456dupGC	15.37:g.75932056_75932057dupGC	ENSP00000326981:p.Ser153fs					IMP3_ENST00000403490.1_Frame_Shift_Ins_p.H153fs	p.H153fs			Q9NV31	IMP3_HUMAN			2	1399_1400	-			153			S4 RNA-binding.		B2RDS0|Q8TAW1|Q96SZ8	Frame_Shift_Ins	INS	ENST00000314852.2	37	c.456_457insGC	CCDS10282.1																																																																																				0.609	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		31	70						31	70	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022441	31022442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:31022441_31022442insG	ENST00000375687.4	+	13	2350_2351	c.1926_1927insG	c.(1927-1929)gggfs	p.G643fs	ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.G638fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	643	Gly-rich.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G643fs*15(5)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCCATCGGAGGGGGGGGTGG	0.693			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		13	Insertion - Frameshift(5)|Deletion - Frameshift(4)|Complex - deletion inframe(3)|Complex - frameshift(1)	p.G643fs*15(5)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)	haematopoietic_and_lymphoid_tissue(13)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1924-1929)ggggggfs		additional sex combs like 1 (Drosophila)																																				SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022441_31022442insG	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1934dupG	20.37:g.31022449_31022449dupG	ENSP00000364839:p.Gly643fs					ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.GG637fs	p.GG642fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2350_2351	+			642			Gly-rich.		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Ins	INS	ENST00000375687.4	37	c.1926_1927insG	CCDS13201.1																																																																																				0.693	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		13	23						13	23	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694331	109694332	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:109694331_109694332delAG	ENST00000465301.2	+	3	732_733	c.486_487delAG	c.(484-489)gcagagfs	p.E163fs	RGAG1_ENST00000540313.1_Frame_Shift_Del_p.E163fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	163										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGATTCTGCAGAGATATCACC	0.48																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(484-489)gcagfs		retrotransposon gag domain containing 1																																				SO:0001589	frameshift_variant	57529							g.chrX:109694331_109694332delAG	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.486_487delAG	X.37:g.109694333_109694334delAG	ENSP00000419786:p.Glu163fs					RGAG1_ENST00000540313.1_Frame_Shift_Del_p.AE162fs	p.AE162fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	732_733	+			162					Q9P2M8	Frame_Shift_Del	DEL	ENST00000465301.2	37	c.486_487delAG	CCDS14552.1																																																																																				0.480	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		23	172						23	172	---	---	---	---
