#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
CIC	23152	broad.mit.edu	37	19	42792001	42792001	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:42792001T>C	ENST00000575354.2	+	6	845	c.805T>C	c.(805-807)Tgg>Cgg	p.W269R	CIC_ENST00000572681.2_Missense_Mutation_p.W1178R|CIC_ENST00000160740.3_Missense_Mutation_p.W269R	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGATTGGAAGTGGTGCAACAA	0.632			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3532-3534)Tgg>Cgg		capicua transcriptional repressor							35.0	32.0	33.0					19																	42792001		2202	4300	6502	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42792001T>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.805T>C	19.37:g.42792001T>C	ENSP00000458663:p.Trp269Arg					CIC_ENST00000160740.3_Missense_Mutation_p.W269R|CIC_ENST00000575354.2_Missense_Mutation_p.W269R	p.W1178R			Q96RK0	CIC_HUMAN			7	3600	+		Prostate(69;0.00682)	269			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3532T>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860043	0.51482	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (2);	.	.	.	.	T	0.74726	0.3754	M	0.64404	1.975	0.58432	D	0.999994	D	0.69078	0.997	D	0.77557	0.99	T	0.77550	-0.2546	8	0.87932	D	0	-7.989	11.9874	0.53155	0.0:0.0:0.0:1.0	.	269	Q96RK0	CIC_HUMAN	R	269	.	ENSP00000160740:W269R	W	+	1	0	CIC	47483841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.392000	0.73213	1.937000	0.56155	0.454000	0.30748	TGG		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	4	0	0	0	1	0	6	4				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	49	0	0	0	1	0	4	49				
ARID1B	57492	broad.mit.edu	37	6	157495231	157495231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:157495231C>T	ENST00000350026.5	+	10	3077	c.3076C>T	c.(3076-3078)Cag>Tag	p.Q1026*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q968*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q1039*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1026*|ARID1B_ENST00000478761.2_3'UTR	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1026					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGCACTCCACAGCCCGAGAG	0.522																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3115-3117)Cag>Tag		AT rich interactive domain 1B (SWI1-like)							121.0	104.0	110.0					6																	157495231		2203	4296	6499	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157495231C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3076C>T	6.37:g.157495231C>T	ENSP00000055163:p.Gln1026*					ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q968*|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1026*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1026*	p.Q1039*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	11	3116	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1026					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.3115C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	37	6.225375	0.97390	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	.	.	.	6.06	6.06	0.98353	.	0.529718	0.21329	N	0.076327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	X	1039;1026;1026;968;443;495;448;93	.	ENSP00000275248:Q968X	Q	+	1	0	ARID1B	157536923	0.999000	0.42202	0.776000	0.31678	0.990000	0.78478	5.356000	0.66052	2.871000	0.98454	0.655000	0.94253	CAG		0.522	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		8	59	0	0	0	1	0	8	59				
SYNJ1	8867	broad.mit.edu	37	21	34038343	34038343	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr21:34038343G>A	ENST00000322229.7	-	16	2054	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F	SYNJ1_ENST00000433931.2_Silent_p.F724F|SYNJ1_ENST00000357345.3_Silent_p.F685F|SYNJ1_ENST00000382499.2_Silent_p.F724F|SYNJ1_ENST00000382491.3_Silent_p.F680F			O43426	SYNJ1_HUMAN	synaptojanin 1	685	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGCTACAGACGAAGCAAAGGC	0.423																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(2170-2172)ttC>ttT		synaptojanin 1							87.0	68.0	74.0					21																	34038343		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34038343G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2055C>T	21.37:g.34038343G>A						SYNJ1_ENST00000322229.7_Silent_p.F685F|SYNJ1_ENST00000357345.3_Silent_p.F685F|SYNJ1_ENST00000433931.2_Silent_p.F724F|SYNJ1_ENST00000382491.3_Silent_p.F680F	p.F724F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			17	2171	-			685			Catalytic (Potential).		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.2172C>T	CCDS54484.1																																																																																				0.423	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	21	0	0	0	1	0	11	21				
KIR3DL1	3811	broad.mit.edu	37	19	55285048	55285048	+	Intron	SNP	T	T	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:55285048T>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.S112T|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S112T|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTATCAGGTGTCAGCTCCCAG	0.522																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(334-336)Tca>Aca		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							269.0	240.0	250.0					19																	55285048		2178	4211	6389	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55285048T>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-43941T>A	19.37:g.55285048T>A						KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S112T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron	p.S112T	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	374	+			112					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.334T>A		.	.	.	.	.	.	.	.	.	.	T	12.47	1.947374	0.34377	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.01152	5.26;5.26	1.24	1.24	0.21308	.	.	.	.	.	T	0.08044	0.0201	H	0.94698	3.57	0.09310	N	1	D;D	0.89917	0.986;1.0	D;D	0.91635	0.954;0.999	T	0.10132	-1.0643	9	0.87932	D	0	.	4.6663	0.12668	0.0:0.0:0.0:1.0	.	112;112	Q6IST4;Q6H2H3	.;.	T	112	ENSP00000336769:S112T;ENSP00000291633:S112T	ENSP00000291633:S112T	S	+	1	0	KIR2DL1	59976860	0.217000	0.23597	0.010000	0.14722	0.006000	0.05464	1.756000	0.38390	0.831000	0.34780	0.327000	0.21459	TCA		0.522	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		86	113	0	0	0	1	0	86	113				
COL15A1	1306	broad.mit.edu	37	9	101832036	101832036	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr9:101832036G>A	ENST00000375001.3	+	42	4458	c.4035G>A	c.(4033-4035)gcG>gcA	p.A1345A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1345	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCGAACCGCGGACACAGCGG	0.537																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(4033-4035)gcG>gcA		collagen, type XV, alpha 1							105.0	102.0	103.0					9																	101832036		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101832036G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4035G>A	9.37:g.101832036G>A							p.A1345A	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			42	4458	+		Acute lymphoblastic leukemia(62;0.0562)	1345			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.4035G>A	CCDS35081.1																																																																																				0.537	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		70	119	0	0	0	1	0	70	119				
DNMBP	23268	broad.mit.edu	37	10	101731881	101731881	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:101731881T>C	ENST00000324109.4	-	2	92	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	DNMBP_ENST00000342239.3_Start_Codon_SNP_p.M1V	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCAGCCTCCATGTTTTATAAC	0.388																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(1-3)Atg>Gtg		dynamin binding protein							62.0	66.0	64.0					10																	101731881		2203	4300	6503	SO:0001582	initiator_codon_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101731881T>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1A>G	10.37:g.101731881T>C	ENSP00000315659:p.Met1Val					DNMBP_ENST00000324109.4_Start_Codon_SNP_p.M1V	p.M1V			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	2	92	-		Colorectal(252;0.234)	1					Q8IVY3|Q9Y2L3	Translation_Start_Site	SNP	ENST00000324109.4	37	c.1A>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085714	0.76642	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.18016	2.29;2.24	4.93	4.93	0.64822	Src homology-3 domain (1);	0.000000	0.64402	D	0.000020	T	0.41328	0.1154	.	.	.	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.38156	-0.9674	9	0.87932	D	0	-23.5845	14.7417	0.69461	0.0:0.0:0.0:1.0	.	1	Q6XZF7	DNMBP_HUMAN	V	1	ENSP00000344914:M1V;ENSP00000315659:M1V	ENSP00000315659:M1V	M	-	1	0	DNMBP	101721871	1.000000	0.71417	0.950000	0.38849	0.978000	0.69477	7.736000	0.84948	2.078000	0.62432	0.454000	0.30748	ATG		0.388	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	Missense_Mutation	29	46	0	0	0	1	0	29	46				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	57	1	0	0.184627	1	0.184627	5	57				
LRRC4	64101	broad.mit.edu	37	7	127670472	127670472	+	Silent	SNP	G	G	A	rs200484242		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr7:127670472G>A	ENST00000249363.3	-	2	479	c.222C>T	c.(220-222)ccC>ccT	p.P74P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	74	LRRNT.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGTGTTCGAGGGAATACCCT	0.637																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(220-222)ccC>ccT		leucine rich repeat containing 4							172.0	174.0	173.0					7																	127670472		2203	4300	6503	SO:0001819	synonymous_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670472G>A	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.222C>T	7.37:g.127670472G>A						SND1_ENST00000354725.3_Intron	p.P74P	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	479	-			74			LRRNT.		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	c.222C>T	CCDS5799.1																																																																																				0.637	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		4	150	0	0	0	1	0	4	150				
TRPV2	51393	broad.mit.edu	37	17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T	rs373733043		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		19562	0.0		0.0	False		,,,				2504	0.001					ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(181-183)Cga>Tga		transient receptor potential cation channel, subfamily V, member 2		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	33.0	32.0	32.0		181	-2.2	0.0	17		32	0,8600		0,0,4300	no	stop-gained	TRPV2	NM_016113.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		61/765	16321163	1,13005	2203	4300	6503	SO:0001587	stop_gained	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321163C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.181C>T	17.37:g.16321163C>T	ENSP00000342222:p.Arg61*					TRPV2_ENST00000577397.1_5'UTR	p.R61*	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	580	+			61			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Nonsense_Mutation	SNP	ENST00000338560.7	37	c.181C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001196	0.97189	2.27E-4	0.0	ENSG00000187688	ENST00000338560	.	.	.	5.39	-2.24	0.06909	.	1.424990	0.04676	N	0.411446	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.9845	6.2534	0.20859	0.4311:0.4048:0.0989:0.0652	.	.	.	.	X	61	.	ENSP00000342222:R61X	R	+	1	2	TRPV2	16261888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.436000	0.06922	-0.909000	0.03852	-2.039000	0.00418	CGA		0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		13	43	0	0	0	1	0	13	43				
PLEKHG6	55200	broad.mit.edu	37	12	6422805	6422805	+	Missense_Mutation	SNP	G	G	A	rs373302901		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr12:6422805G>A	ENST00000396988.3	+	3	379	c.149G>A	c.(148-150)cGc>cAc	p.R50H	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R18H|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R50H|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R50H	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	50						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GATCCCAGTCGCCGACGCCTC	0.637																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(52-54)cGc>cAc		pleckstrin homology domain containing, family G (with RhoGef domain) member 6		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	43.0	50.0	48.0		149,53,149	-1.4	0.0	12		48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLEKHG6	NM_001144856.1,NM_001144857.1,NM_018173.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	50/791,18/759,50/791	6422805	1,13005	2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6422805G>A	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.149G>A	12.37:g.6422805G>A	ENSP00000380185:p.Arg50His					PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R50H|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R50H|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R50H	p.R18H	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			2	547	+			50					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.53G>A	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	8.459	0.854874	0.17106	0.0	1.16E-4	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.63744	0.79;0.79;0.79;-0.06	4.35	-1.35	0.09114	.	0.774806	0.11390	N	0.568896	T	0.46718	0.1407	L	0.48362	1.52	0.09310	N	0.999999	B;B;B	0.13145	0.007;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.32613	-0.9900	10	0.37606	T	0.19	-14.4929	3.3809	0.07254	0.4698:0.0:0.3215:0.2086	.	18;50;50	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	H	50;50;50;18	ENSP00000011684:R50H;ENSP00000442836:R50H;ENSP00000380185:R50H;ENSP00000393194:R18H	ENSP00000011684:R50H	R	+	2	0	PLEKHG6	6293066	0.001000	0.12720	0.002000	0.10522	0.922000	0.55478	0.099000	0.15210	-0.123000	0.11745	-0.379000	0.06801	CGC		0.637	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		40	82	0	0	0	1	0	40	82				
CPED1	79974	broad.mit.edu	37	7	120629721	120629721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr7:120629721C>T	ENST00000310396.5	+	2	513	c.46C>T	c.(46-48)Cga>Tga	p.R16*	CPED1_ENST00000340646.5_Nonsense_Mutation_p.R16*|CPED1_ENST00000450913.2_Nonsense_Mutation_p.R16*|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	16						endoplasmic reticulum (GO:0005783)											ATTTTGCCCCCGACCCTTCTT	0.597																																						ENST00000310396.5																			0											c.(46-48)Cga>Tga		cadherin-like and PC-esterase domain containing 1							129.0	114.0	119.0					7																	120629721		2203	4300	6503	SO:0001587	stop_gained	79974							g.chr7:120629721C>T		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.46C>T	7.37:g.120629721C>T	ENSP00000309772:p.Arg16*					CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Nonsense_Mutation_p.R16*|CPED1_ENST00000450913.2_Nonsense_Mutation_p.R16*	p.R16*	NM_024913.4	NP_079189.4					2	513	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Nonsense_Mutation	SNP	ENST00000310396.5	37	c.46C>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	38	6.734712	0.97801	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	.	.	.	5.64	5.64	0.86602	.	0.085944	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8556	0.86005	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000309772:R16X	R	+	1	2	C7orf58	120416957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.763000	0.62257	2.662000	0.90505	0.655000	0.94253	CGA		0.597	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		5	117	0	0	0	1	0	5	117				
YME1L1	10730	broad.mit.edu	37	10	27420861	27420861	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:27420861C>T	ENST00000326799.3	-	9	1104	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	YME1L1_ENST00000375972.3_Missense_Mutation_p.R229Q|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262Q	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	319					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R319L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTGTTGTCCGGAAGCGGAC	0.373																																						ENST00000326799.3																			1	Substitution - Missense(1)	p.R319L(1)	lung(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(955-957)cGg>cAg		YME1-like 1 ATPase							113.0	108.0	110.0					10																	27420861		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27420861C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.956G>A	10.37:g.27420861C>T	ENSP00000318480:p.Arg319Gln					YME1L1_ENST00000375972.3_Missense_Mutation_p.R229Q|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262Q|YME1L1_ENST00000463270.1_5'UTR	p.R319Q	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			9	1104	-			319					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.956G>A	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825289	0.96996	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122;ENST00000427324	D;D;D	0.93247	-3.17;-3.19;-3.12	5.49	5.49	0.81192	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.95481	0.8532	L	0.55017	1.72	0.80722	D	1	D;D;P	0.89917	1.0;0.992;0.797	P;P;B	0.62382	0.901;0.791;0.389	D	0.95281	0.8386	10	0.59425	D	0.04	-4.4474	19.7571	0.96298	0.0:1.0:0.0:0.0	.	229;262;319	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	Q	262;319;319;229;65;229	ENSP00000365184:R262Q;ENSP00000318480:R319Q;ENSP00000365139:R229Q	ENSP00000318480:R319Q	R	-	2	0	YME1L1	27460867	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.417000	0.80156	2.744000	0.94065	0.650000	0.86243	CGG		0.373	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		20	45	0	0	0	1	0	20	45				
FOXS1	2307	broad.mit.edu	37	20	30432674	30432674	+	Silent	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:30432674G>A	ENST00000375978.3	-	1	746	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	224					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGCCTCTGAGAAGCCGGCAG	0.587																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(670-672)ttC>ttT		forkhead box S1							39.0	41.0	41.0					20																	30432674		2203	4300	6503	SO:0001819	synonymous_variant	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432674G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.672C>T	20.37:g.30432674G>A							p.F224F	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	746	-			224					Q96D28	Silent	SNP	ENST00000375978.3	37	c.672C>T	CCDS13192.1																																																																																				0.587	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		6	85	0	0	0	1	0	6	85				
CREBBP	1387	broad.mit.edu	37	16	3832889	3832889	+	Missense_Mutation	SNP	T	T	C	rs369459749		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:3832889T>C	ENST00000262367.5	-	6	2178	c.1369A>G	c.(1369-1371)Att>Gtt	p.I457V	CREBBP_ENST00000382070.3_Missense_Mutation_p.I419V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	457					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGAACCAATTGTGTTTTGA	0.488			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1369-1371)Att>Gtt		CREB binding protein		T	VAL/ILE,VAL/ILE	0,4394		0,0,2197	82.0	76.0	78.0		1255,1369	6.2	1.0	16		78	1,8599		0,1,4299	no	missense,missense	CREBBP	NM_001079846.1,NM_004380.2	29,29	0,1,6496	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	419/2405,457/2443	3832889	1,12993	2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3832889T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1369A>G	16.37:g.3832889T>C	ENSP00000262367:p.Ile457Val					CREBBP_ENST00000382070.3_Missense_Mutation_p.I419V	p.I457V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	6	2178	-		Ovarian(90;0.0266)	457					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1369A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686817	0.48097	0.0	1.16E-4	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82344	-1.6;-1.59	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	L	0.58101	1.795	0.53005	D	0.999968	P;P	0.50369	0.774;0.934	P;P	0.49922	0.626;0.626	T	0.82212	-0.0569	10	0.31617	T	0.26	-16.621	11.794	0.52088	0.0:0.0674:0.0:0.9326	.	487;457	Q4LE28;Q92793	.;CBP_HUMAN	V	457;487;419	ENSP00000262367:I457V;ENSP00000371502:I419V	ENSP00000262367:I457V	I	-	1	0	CREBBP	3772890	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.939000	0.56591	2.371000	0.80710	0.533000	0.62120	ATT		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		4	68	0	0	0	1	0	4	68				
ITIH3	3699	broad.mit.edu	37	3	52840399	52840399	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr3:52840399G>A	ENST00000449956.2	+	18	2039	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	678					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R678H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAGTGCTGCGCCTTATTCAG	0.612																																						ENST00000449956.2																			1	Substitution - Missense(1)	p.R678H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(2032-2034)cGc>cAc		inter-alpha-trypsin inhibitor heavy chain 3							44.0	44.0	44.0					3																	52840399		1954	4137	6091	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840399G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2033G>A	3.37:g.52840399G>A	ENSP00000415769:p.Arg678His					ITIH3_ENST00000416872.2_Intron	p.R678H	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	2039	+			678					Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.2033G>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679546	0.47886	.	.	ENSG00000162267	ENST00000273291;ENST00000449956	T	0.01705	4.68	5.38	4.27	0.50696	.	0.337826	0.33496	N	0.004854	T	0.03011	0.0089	M	0.74881	2.28	0.29739	N	0.837221	P	0.48016	0.904	B	0.37650	0.255	T	0.16988	-1.0384	10	0.52906	T	0.07	-10.1344	11.5428	0.50675	0.1232:0.0:0.8768:0.0	.	678	Q06033	ITIH3_HUMAN	H	673;678	ENSP00000415769:R678H	ENSP00000273291:R673H	R	+	2	0	ITIH3	52815439	0.786000	0.28738	1.000000	0.80357	0.106000	0.19336	1.342000	0.33919	2.692000	0.91855	0.561000	0.74099	CGC		0.612	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		13	39	0	0	0	1	0	13	39				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	31	0	0	0	1	0	20	31				
GRIA1	2890	broad.mit.edu	37	5	153190685	153190685	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:153190685A>G	ENST00000285900.5	+	16	2964	c.2621A>G	c.(2620-2622)gAg>gGg	p.E874G	GRIA1_ENST00000340592.5_Missense_Mutation_p.E874G|GRIA1_ENST00000518142.1_Missense_Mutation_p.E794G|GRIA1_ENST00000521843.2_Missense_Mutation_p.E805G|GRIA1_ENST00000448073.4_Missense_Mutation_p.E884G|GRIA1_ENST00000518783.1_Missense_Mutation_p.E884G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	874					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGCAGTGGAGAGAATGGTCGG	0.577																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2620-2622)gAg>gGg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						51.0	52.0	52.0					5																	153190685		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190685A>G		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2621A>G	5.37:g.153190685A>G	ENSP00000285900:p.Glu874Gly					GRIA1_ENST00000518142.1_Missense_Mutation_p.E794G|GRIA1_ENST00000518783.1_Missense_Mutation_p.E884G|GRIA1_ENST00000521843.2_Missense_Mutation_p.E805G|GRIA1_ENST00000340592.5_Missense_Mutation_p.E874G|GRIA1_ENST00000448073.4_Missense_Mutation_p.E884G	p.E874G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2964	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	874					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2621A>G	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221785	0.79464	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.14640	2.55;2.5;2.55;2.5;2.49;2.53;2.53	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.68593	2.085	0.80722	D	1	P;P;P;D;D	0.67145	0.935;0.935;0.948;0.961;0.996	P;P;P;P;P	0.57468	0.494;0.494;0.652;0.691;0.821	T	0.04178	-1.0971	10	0.87932	D	0	.	13.9405	0.64052	1.0:0.0:0.0:0.0	.	884;884;794;874;874	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	G	874;874;794;874;807;805;884;884	ENSP00000285900:E874G;ENSP00000427920:E794G;ENSP00000339343:E874G;ENSP00000427864:E807G;ENSP00000442108:E805G;ENSP00000428994:E884G;ENSP00000415569:E884G	ENSP00000285900:E874G	E	+	2	0	GRIA1	153170878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.742000	0.91588	1.888000	0.54679	0.459000	0.35465	GAG		0.577	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	110	0	0	0	1	0	4	110				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			6	35	0	0	0	1	0	6	35				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	101	0	0	0	1	0	6	101				
UNC13D	201294	broad.mit.edu	37	17	73832286	73832286	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:73832286C>T	ENST00000207549.4	-	16	1820	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	UNC13D_ENST00000412096.2_Missense_Mutation_p.V481M	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	481	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCACCTGCACCATGGGTTGA	0.667									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1441-1443)Gtg>Atg		unc-13 homolog D (C. elegans)							21.0	20.0	20.0					17																	73832286		2197	4291	6488	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73832286C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1441G>A	17.37:g.73832286C>T	ENSP00000207549:p.Val481Met					UNC13D_ENST00000412096.2_Missense_Mutation_p.V481M	p.V481M	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		16	1820	-			481			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1441G>A	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312869	0.40895	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.70516	-0.46;-0.49	4.19	2.19	0.27852	.	0.241901	0.35525	N	0.003148	T	0.70029	0.3177	L	0.54323	1.7	0.34002	D	0.650416	B;B;D	0.57571	0.041;0.02;0.98	B;B;P	0.52267	0.045;0.034;0.694	T	0.73959	-0.3818	10	0.30078	T	0.28	-2.2954	10.1693	0.42900	0.0:0.8187:0.0:0.1813	.	481;481;481	B4DTQ6;Q70J99-3;Q70J99	.;.;UN13D_HUMAN	M	481	ENSP00000207549:V481M;ENSP00000388093:V481M	ENSP00000207549:V481M	V	-	1	0	UNC13D	71343881	0.996000	0.38824	0.996000	0.52242	0.610000	0.37248	1.794000	0.38774	0.416000	0.25844	-1.149000	0.01842	GTG		0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		5	27	0	0	0	1	0	5	27				
HPS5	11234	broad.mit.edu	37	11	18339305	18339305	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr11:18339305C>T	ENST00000349215.3	-	2	378	c.101G>A	c.(100-102)cGt>cAt	p.R34H	HPS5_ENST00000396253.3_Intron|HPS5_ENST00000531848.1_Intron|HPS5_ENST00000438420.2_Intron	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	34					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACCTTTAGACGACTGGAGTC	0.463									Hermansky-Pudlak syndrome																													ENST00000349215.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(100-102)cGt>cAt		Hermansky-Pudlak syndrome 5							59.0	53.0	55.0					11																	18339305		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18339305C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.101G>A	11.37:g.18339305C>T	ENSP00000265967:p.Arg34His					HPS5_ENST00000396253.3_Intron|HPS5_ENST00000531848.1_Intron|HPS5_ENST00000438420.2_Intron	p.R34H	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN			2	378	-			34					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.101G>A	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345874	0.95807	.	.	ENSG00000110756	ENST00000349215	T	0.63255	-0.03	5.05	5.05	0.67936	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.917;1.0	T	0.75505	-0.3294	10	0.87932	D	0	.	18.4032	0.90525	0.0:1.0:0.0:0.0	.	50;34	Q8IZE8;Q9UPZ3	.;HPS5_HUMAN	H	34	ENSP00000265967:R34H	ENSP00000265967:R34H	R	-	2	0	HPS5	18295881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.334000	0.79466	0.591000	0.81541	CGT		0.463	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		8	12	0	0	0	1	0	8	12				
UNC13A	23025	broad.mit.edu	37	19	17752214	17752214	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:17752214T>C	ENST00000519716.2	-	21	2623	c.2624A>G	c.(2623-2625)tAc>tGc	p.Y875C	UNC13A_ENST00000550896.1_Missense_Mutation_p.Y873C|UNC13A_ENST00000551649.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000252773.7_Missense_Mutation_p.Y875C|UNC13A_ENST00000552293.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000428389.2_Missense_Mutation_p.Y963C	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	875					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATGGCTTGGTAGATGGACTC	0.592																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2887-2889)tAc>tGc		unc-13 homolog A (C. elegans)							60.0	64.0	63.0					19																	17752214		2146	4268	6414	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17752214T>C	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2624A>G	19.37:g.17752214T>C	ENSP00000429562:p.Tyr875Cys					UNC13A_ENST00000550896.1_Missense_Mutation_p.Y873C|UNC13A_ENST00000552293.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000551649.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000519716.2_Missense_Mutation_p.Y875C|UNC13A_ENST00000252773.7_Missense_Mutation_p.Y875C	p.Y963C			Q9UPW8	UN13A_HUMAN			22	2887	-			875					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2888A>G	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	t	16.65	3.182895	0.57800	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.86230	-2.06;-2.04;-2.07;-1.92;-1.96;-2.09	3.1	3.1	0.35709	.	0.166139	0.41294	U	0.000909	D	0.92227	0.7535	M	0.82056	2.57	0.47905	D	0.99954	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	-12.44	9.6227	0.39732	0.0:0.0:0.0:1.0	.	875	Q9UPW8	UN13A_HUMAN	C	875;963;875;875;875;873	ENSP00000429562:Y875C;ENSP00000400409:Y963C;ENSP00000252773:Y875C;ENSP00000447236:Y875C;ENSP00000447572:Y875C;ENSP00000446831:Y873C	ENSP00000252773:Y875C	Y	-	2	0	UNC13A	17613214	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.679000	0.84048	1.441000	0.47550	0.249000	0.18162	TAC		0.592	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		24	40	0	0	0	1	0	24	40				
FNDC1	84624	broad.mit.edu	37	6	159653415	159653415	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:159653415C>T	ENST00000297267.9	+	11	2071	c.1871C>T	c.(1870-1872)gCg>gTg	p.A624V	FNDC1_ENST00000340366.6_Missense_Mutation_p.A561V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	624					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCACCACGCGTCCACCCAG	0.667																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1870-1872)gCg>gTg		fibronectin type III domain containing 1							30.0	35.0	33.0					6																	159653415		2044	4181	6225	SO:0001583	missense	84624					extracellular region		g.chr6:159653415C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1871C>T	6.37:g.159653415C>T	ENSP00000297267:p.Ala624Val					FNDC1_ENST00000340366.6_Missense_Mutation_p.A561V	p.A624V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2071	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	624					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1871C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	8.967	0.972065	0.18736	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07688	3.17;3.97	2.99	-0.309	0.12769	.	1.732920	0.03779	N	0.261024	T	0.00936	0.0031	N	0.08118	0	0.09310	N	1	B;B	0.33022	0.394;0.115	B;B	0.19391	0.025;0.011	T	0.43015	-0.9417	10	0.24483	T	0.36	.	3.0285	0.06098	0.0:0.4727:0.2356:0.2916	.	561;624	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	V	624;561	ENSP00000297267:A624V;ENSP00000342460:A561V	ENSP00000297267:A624V	A	+	2	0	FNDC1	159573405	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.324000	0.07986	0.117000	0.18138	-0.136000	0.14681	GCG		0.667	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		5	80	0	0	0	1	0	5	80				
SLC6A2	6530	broad.mit.edu	37	16	55735794	55735794	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:55735794C>T	ENST00000379906.2	+	13	2033	c.1778C>T	c.(1777-1779)aCg>aTg	p.T593M	SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000566163.1_Missense_Mutation_p.T548M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T537M|SLC6A2_ENST00000567238.1_Missense_Mutation_p.T488M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T593M|SLC6A2_ENST00000568943.1_Missense_Mutation_p.T593M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	593					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TATGGCATCACGCCAGAGAAC	0.622											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1777-1779)aCg>aTg		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						83.0	81.0	82.0					16																	55735794		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55735794C>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1778C>T	16.37:g.55735794C>T	ENSP00000369237:p.Thr593Met		OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1010	SLC6A2_ENST00000567238.1_Missense_Mutation_p.T488M|SLC6A2_ENST00000568943.1_Missense_Mutation_p.T593M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T593M|SLC6A2_ENST00000566163.1_Missense_Mutation_p.T548M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T537M|SLC6A2_ENST00000561820.1_Intron	p.T593M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	13	2033	+			593					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1778C>T	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213955	0.79352	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.74842	-0.88;-0.87	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.973;0.97	T	0.80594	-0.1313	10	0.49607	T	0.09	.	17.162	0.86806	0.0:1.0:0.0:0.0	.	307;488;593	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	M	593;307;593;593	ENSP00000369237:T593M;ENSP00000219833:T593M	ENSP00000219833:T593M	T	+	2	0	SLC6A2	54293295	1.000000	0.71417	0.938000	0.37757	0.867000	0.49689	5.449000	0.66619	2.346000	0.79739	0.650000	0.86243	ACG		0.622	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			36	82	0	0	0	1	0	36	82				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	54	0	0	0	1	0	5	54				
SLC23A1	9963	broad.mit.edu	37	5	138713162	138713162	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:138713162A>G	ENST00000348729.3	-	13	1524	c.1478T>C	c.(1477-1479)cTg>cCg	p.L493P	SLC23A1_ENST00000353963.3_Missense_Mutation_p.L497P	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	493					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGCACAATCAGAATCTGATC	0.527																																						ENST00000353963.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(1489-1491)cTg>cCg		solute carrier family 23 (ascorbic acid transporter), member 1	Vitamin C(DB00126)						137.0	117.0	124.0					5																	138713162		2203	4300	6503	SO:0001583	missense	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138713162A>G	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1478T>C	5.37:g.138713162A>G	ENSP00000302701:p.Leu493Pro					SLC23A1_ENST00000348729.3_Missense_Mutation_p.L493P	p.L497P	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		13	1528	-			493					O95191|Q8WWB6|Q9UGH4|Q9UI39	Missense_Mutation	SNP	ENST00000348729.3	37	c.1490T>C	CCDS4212.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480627	0.84747	.	.	ENSG00000170482	ENST00000353963;ENST00000348729;ENST00000339881	T;T	0.23754	1.89;1.9	5.23	5.23	0.72850	.	0.074680	0.56097	D	0.000028	T	0.54095	0.1837	M	0.84156	2.68	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.959	T	0.61312	-0.7088	10	0.87932	D	0	-10.0798	14.9471	0.71042	1.0:0.0:0.0:0.0	.	493;497	Q9UHI7;Q9UHI7-2	S23A1_HUMAN;.	P	497;493;154	ENSP00000302851:L497P;ENSP00000302701:L493P	ENSP00000343584:L154P	L	-	2	0	SLC23A1	138741061	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.263000	0.78421	2.194000	0.70268	0.533000	0.62120	CTG		0.527	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		22	26	0	0	0	1	0	22	26				
LARS	51520	broad.mit.edu	37	5	145512473	145512473	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:145512473C>T	ENST00000394434.2	-	23	2550	c.2384G>A	c.(2383-2385)aGa>aAa	p.R795K	LARS_ENST00000274562.9_Missense_Mutation_p.R768K|LARS_ENST00000545646.1_Missense_Mutation_p.R749K|LARS_ENST00000510191.1_Missense_Mutation_p.R741K	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	795					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GGCAAAAACTCTATCATTGAA	0.403																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(2383-2385)aGa>aAa		leucyl-tRNA synthetase	L-Leucine(DB00149)						103.0	102.0	102.0					5																	145512473		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145512473C>T	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2384G>A	5.37:g.145512473C>T	ENSP00000377954:p.Arg795Lys					LARS_ENST00000274562.9_Missense_Mutation_p.R768K|LARS_ENST00000545646.1_Missense_Mutation_p.R749K|LARS_ENST00000510191.1_Missense_Mutation_p.R741K	p.R795K	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	2550	-			795					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.2384G>A	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587278	0.28268	.	.	ENSG00000133706	ENST00000394434;ENST00000539715;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.59	1.89	0.25635	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.154390	0.56097	N	0.000040	T	0.06142	0.0159	N	0.04335	-0.225	0.42829	D	0.99401	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.002	T	0.36817	-0.9732	10	0.05959	T	0.93	-11.4166	10.194	0.43043	0.0:0.7371:0.0:0.2629	.	768;749;795	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	K	795;104;749;104;741;768	ENSP00000377954:R795K;ENSP00000437791:R749K;ENSP00000426005:R741K;ENSP00000274562:R768K	ENSP00000274562:R768K	R	-	2	0	LARS	145492666	1.000000	0.71417	0.265000	0.24526	0.958000	0.62258	3.232000	0.51302	0.064000	0.16427	0.650000	0.86243	AGA		0.403	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		4	92	0	0	0	1	0	4	92				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	55	0	0	0	1	0	5	55				
ZNF335	63925	broad.mit.edu	37	20	44578967	44578967	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:44578967G>C	ENST00000322927.2	-	22	3478	c.3378C>G	c.(3376-3378)caC>caG	p.H1126Q	ZNF335_ENST00000426788.1_Missense_Mutation_p.H971Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1126					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CATCAGGACTGTGCAGCCGCT	0.582																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(3376-3378)caC>caG		zinc finger protein 335							96.0	100.0	98.0					20																	44578967		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44578967G>C	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3378C>G	20.37:g.44578967G>C	ENSP00000325326:p.His1126Gln					ZNF335_ENST00000426788.1_Missense_Mutation_p.H971Q	p.H1126Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			22	3478	-		Myeloproliferative disorder(115;0.0122)	1126					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.3378C>G	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271229	0.59649	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.22336	2.18;1.96	4.86	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	N	0.24115	0.695	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.02852	-1.1102	10	0.87932	D	0	-24.0484	7.1688	0.25706	0.3032:0.0:0.6968:0.0	.	971;1126	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	Q	1126;903;971	ENSP00000325326:H1126Q;ENSP00000397098:H971Q	ENSP00000243961:H903Q	H	-	3	2	ZNF335	44012374	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	2.669000	0.46825	0.263000	0.21812	0.655000	0.94253	CAC		0.582	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		55	73	0	0	0	1	0	55	73				
PRG4	10216	broad.mit.edu	37	1	186277366	186277366	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr1:186277366C>G	ENST00000445192.2	+	7	2560	c.2515C>G	c.(2515-2517)Ccc>Gcc	p.P839A	PRG4_ENST00000367485.4_Missense_Mutation_p.P746A|PRG4_ENST00000367483.4_Missense_Mutation_p.P798A|PRG4_ENST00000367484.3_Missense_Mutation_p.P368A|PRG4_ENST00000367486.3_Missense_Mutation_p.P796A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	839	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACTACCCCCAAGAAGCC	0.562																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2515-2517)Ccc>Gcc		proteoglycan 4							202.0	236.0	224.0					1																	186277366		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277366C>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2515C>G	1.37:g.186277366C>G	ENSP00000399679:p.Pro839Ala					PRG4_ENST00000367483.4_Missense_Mutation_p.P798A|PRG4_ENST00000367484.3_Missense_Mutation_p.P368A|PRG4_ENST00000367486.3_Missense_Mutation_p.P796A|PRG4_ENST00000367485.4_Missense_Mutation_p.P746A	p.P839A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2560	+			839			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2515C>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	6.893	0.534281	0.13188	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.06849	3.55;3.25;3.65;3.5;3.66	3.14	-1.41	0.08941	.	0.208574	0.23640	U	0.046035	T	0.05227	0.0139	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.002;0.003	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.35798	-0.9774	10	0.20046	T	0.44	-0.3969	1.4799	0.02434	0.1457:0.403:0.2227:0.2286	.	705;746;839;798	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	796;368;705;798;746;839	ENSP00000356456:P796A;ENSP00000356454:P368A;ENSP00000356453:P798A;ENSP00000356455:P746A;ENSP00000399679:P839A	ENSP00000356452:P705A	P	+	1	0	PRG4	184543989	0.000000	0.05858	0.001000	0.08648	0.484000	0.33280	-2.285000	0.01153	0.009000	0.14813	-0.891000	0.02926	CCC		0.562	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	501	0	0	0	1	0	8	501				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	102	0	0	0	1	0	4	102				
CROCCP2	84809	broad.mit.edu	37	1	16952362	16952362	+	lincRNA	DEL	G	G	-			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr1:16952362delG	ENST00000412962.1	-	0	907							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCACTCATAGGGAGCCCTCC	0.677																																						ENST00000412962.1																			0																																																			0							g.chr1:16952362delG	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16952362delG														0	907	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.677	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	4						2	4	---	---	---	---
ASCC1	51008	broad.mit.edu	37	10	73970535	73970535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:73970535delG	ENST00000342444.4	-	3	268	c.167delC	c.(166-168)ccafs	p.P56fs	ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000394915.3_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317126.4_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000545550.1_Frame_Shift_Del_p.P78fs|ASCC1_ENST00000394919.1_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317168.6_Frame_Shift_Del_p.P56fs	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						GAATCCTTGTGGGGTCTGCTC	0.527																																						ENST00000342444.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						c.(166-168)cafs		activating signal cointegrator 1 complex subunit 1							94.0	82.0	86.0					10																	73970535		2203	4300	6503	SO:0001589	frameshift_variant	51008				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding	g.chr10:73970535delG	AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.167delC	10.37:g.73970535delG	ENSP00000339404:p.Pro56fs					ASCC1_ENST00000317126.4_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000545550.1_Frame_Shift_Del_p.P78fs|ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000394919.1_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317168.6_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000394915.3_Frame_Shift_Del_p.P56fs	p.P56fs	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN			3	268	-			56					Q5SW06|Q5SW07|Q96EI8|Q9Y307	Frame_Shift_Del	DEL	ENST00000342444.4	37	c.167delC	CCDS55713.1																																																																																				0.527	ASCC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048573.2	NM_015947		18	46						18	46	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7517826	7517826	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:7517826delC	ENST00000250113.7	-	1	359	c.25delG	c.(25-27)gatfs	p.D9fs	SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	9						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D9fs*27(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGCTCCACATCCCCCCCAGAG	0.766																																						ENST00000250113.7																			2	Unknown(1)|Insertion - Frameshift(1)	p.D9fs*27(1)|p.?(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(25-27)atfs		fragile X mental retardation, autosomal homolog 2							3.0	5.0	4.0					17																	7517826		1695	3784	5479	SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7517826delC	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.25delG	17.37:g.7517826delC	ENSP00000250113:p.Asp9fs					SHBG_ENST00000574539.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576478.1_Intron	p.D9fs	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	1	359	-			9					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Del	DEL	ENST00000250113.7	37	c.25delG	CCDS45604.1																																																																																				0.766	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			2	4						2	4	---	---	---	---
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	lincRNA	INS	-	-	A	rs372497626|rs79055434|rs113013303|rs79929016|rs368331815|rs145002653		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356														2066	0.547285	0.2867	0.4784	3775	,	,		12410	0.4861		0.4493	False		,,,				2504	0.4223					ENST00000604849.1																			0																																																			0							g.chrX:53142508_53142509insA																													X.37:g.53142517_53142517dupA														0	96	+									RNA	INS	ENST00000604849.1	37																																																																																						0.356	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			4	4						4	4	---	---	---	---
