#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
CNGA1	1259	broad.mit.edu	37	4	47938975	47938975	+	Silent	SNP	G	G	A			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr4:47938975G>A	ENST00000514170.1	-	11	1855	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	CNGA1_ENST00000544810.1_Silent_p.I512I|CNGA1_ENST00000358519.4_Silent_p.I512I|CNGA1_ENST00000402813.3_Silent_p.I581I|CNGA1_ENST00000420489.2_Silent_p.I512I			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	512					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTCTCGTCCGATATCCCCTT	0.463																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1741-1743)atC>atT		cyclic nucleotide gated channel alpha 1							109.0	110.0	109.0					4																	47938975		2140	4278	6418	SO:0001819	synonymous_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47938975G>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1536C>T	4.37:g.47938975G>A						CNGA1_ENST00000420489.2_Silent_p.I512I|CNGA1_ENST00000514170.1_Silent_p.I512I|CNGA1_ENST00000358519.4_Silent_p.I512I|CNGA1_ENST00000544810.1_Silent_p.I512I	p.I581I			P29973	CNGA1_HUMAN			10	1885	-			512					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	ENST00000514170.1	37	c.1743C>T	CCDS43226.1																																																																																				0.463	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		36	59	0	0	0	1	0	36	59				
MIR1208	100302281	broad.mit.edu	37	8	129162395	129162395	+	RNA	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr8:129162395C>T	ENST00000408334.1	+	0	34					NR_031613.1				microRNA 1208																		CAGGCGGAGACGGGTCTTTCT	0.527																																						ENST00000408334.1																			0																				62.0	59.0	60.0					8																	129162395		1568	3582	5150			0							g.chr8:129162395C>T			8q24.21	2011-09-12		2008-12-18	ENSG00000221261	ENSG00000221261		"""ncRNAs / Micro RNAs"""	35274	non-coding RNA	RNA, micro				MIRN1208			Standard	NR_031613		Approved	hsa-mir-1208	uc022bbk.1				8.37:g.129162395C>T								NR_031613.1						0	34	+									RNA	SNP	ENST00000408334.1	37																																																																																						0.527	MIR1208-201	KNOWN	basic	miRNA	miRNA		NR_031613		17	16	0	0	0	1	0	17	16				
DAPK1	1612	broad.mit.edu	37	9	90219898	90219898	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr9:90219898G>A	ENST00000408954.3	+	3	427	c.92G>A	c.(91-93)cGt>cAt	p.R31H	DAPK1_ENST00000491893.1_Missense_Mutation_p.R31H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R31H|DAPK1_ENST00000469640.2_Missense_Mutation_p.R31H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R31H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R31H(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAGAAATGCCGTGAGAAAAGC	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			2	Substitution - Missense(2)	p.R31H(2)	large_intestine(2)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(91-93)cGt>cAt		death-associated protein kinase 1							34.0	35.0	35.0					9																	90219898		2019	4200	6219	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90219898G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.92G>A	9.37:g.90219898G>A	ENSP00000386135:p.Arg31His					DAPK1_ENST00000408954.3_Missense_Mutation_p.R31H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R31H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R31H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R31H	p.R31H			P53355	DAPK1_HUMAN			3	467	+			31			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.92G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198432	0.79015	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155687	0.30959	N	0.008523	T	0.49047	0.1534	L	0.31578	0.945	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.986	D;P;P	0.68621	0.959;0.681;0.567	T	0.48043	-0.9069	10	0.62326	D	0.03	.	11.0484	0.47872	0.0843:0.0:0.9157:0.0	.	31;31;31	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	H	31	ENSP00000350785:R31H;ENSP00000417076:R31H;ENSP00000418885:R31H;ENSP00000386135:R31H;ENSP00000419026:R31H	ENSP00000350785:R31H	R	+	2	0	DAPK1	89409718	1.000000	0.71417	0.989000	0.46669	0.814000	0.46013	7.676000	0.84012	2.628000	0.89032	0.511000	0.50034	CGT		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		4	7	0	0	0	1	0	4	7				
PRB3	5544	broad.mit.edu	37	12	11420521	11420521	+	Missense_Mutation	SNP	C	C	T	rs113884749		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr12:11420521C>T	ENST00000279573.7	-	3	797	c.662G>A	c.(661-663)cGt>cAt	p.R221H	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.R200H			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	221	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCCGGACGAGGTGGGGG	0.622																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							68.0	41.0	50.0					12																	11420521		1675	3302	4977	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420521C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.662G>A	12.37:g.11420521C>T	ENSP00000279573:p.Arg221His					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	0.003	-2.434661	0.00182	.	.	ENSG00000197870	ENST00000538488	T	0.04970	3.52	1.25	-2.5	0.06384	.	.	.	.	.	T	0.04770	0.0129	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.31503	-0.9941	8	0.44086	T	0.13	.	5.2128	0.15327	0.0:0.2923:0.2001:0.5076	.	221	Q04118	PRB3_HUMAN	H	200	ENSP00000442626:R200H	ENSP00000442626:R200H	R	-	2	0	PRB3	11311788	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.014000	0.03641	-3.877000	0.00096	-2.888000	0.00096	CGT		0.622	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		4	110	0	0	0	1	0	4	110				
XIRP2	129446	broad.mit.edu	37	2	168100851	168100851	+	Silent	SNP	C	C	T	rs192182483	byFrequency	TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr2:168100851C>T	ENST00000409195.1	+	9	3038	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	XIRP2_ENST00000409273.1_Silent_p.F761F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F983F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	808					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.F983F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCTCTCTTCGAGACAACAC	0.353													C|||	6	0.00119808	0.0	0.0	5008	,	,		18426	0.006		0.0	False		,,,				2504	0.0					ENST00000409195.1																			1	Substitution - coding silent(1)	p.F983F(1)	large_intestine(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2947-2949)ttC>ttT		xin actin-binding repeat containing 2							59.0	55.0	56.0					2																	168100851		1857	4103	5960	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100851C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2949C>T	2.37:g.168100851C>T						XIRP2_ENST00000409273.1_Silent_p.F761F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.F983F|XIRP2_ENST00000409043.1_Intron	p.F983F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	3038	+			808					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2949C>T	CCDS42769.1																																																																																				0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	22	0	0	0	1	0	12	22				
PCDHA6	56142	broad.mit.edu	37	5	140209185	140209185	+	Silent	SNP	G	G	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr5:140209185G>T	ENST00000529310.1	+	1	1623	c.1509G>T	c.(1507-1509)gcG>gcT	p.A503A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGTTGTCGAGCT	0.672																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1507-1509)gcG>gcT									53.0	59.0	57.0					5																	140209185		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140209185G>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1509G>T	5.37:g.140209185G>T						PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	p.A503A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1623	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1509G>T	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		39	51	1	0	1.59361e-14	1	1.68214e-14	39	51				
DNM1P47	100216544	broad.mit.edu	37	15	102303137	102303137	+	RNA	SNP	C	C	G			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr15:102303137C>G	ENST00000561463.1	+	0	11183									DNM1 pseudogene 47																		CCAACCTGCACTAGCGTGGGA	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102303137C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303137C>G														0	11183	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	29	0	0	0	1	0	5	29				
PDE5A	8654	broad.mit.edu	37	4	120527915	120527915	+	Silent	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr4:120527915C>T	ENST00000354960.3	-	2	1009	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PDE5A_ENST00000394439.1_Silent_p.V178V|PDE5A_ENST00000264805.5_Silent_p.V188V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	230	GAF 1.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	CCACATGTCCCACAATGCCTT	0.478																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(688-690)gtG>gtA		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						145.0	139.0	141.0					4																	120527915		2203	4300	6503	SO:0001819	synonymous_variant	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120527915C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.690G>A	4.37:g.120527915C>T						PDE5A_ENST00000394439.1_Silent_p.V178V|PDE5A_ENST00000264805.5_Silent_p.V188V	p.V230V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			2	1009	-			230			GAF 1.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Silent	SNP	ENST00000354960.3	37	c.690G>A	CCDS3713.1																																																																																				0.478	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		8	73	0	0	0	1	0	8	73				
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	rs190057031	byFrequency	TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3.0	5.0	4.0					16																	18937330		1189	3103	4292	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937330T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	6	0	0	0	1	0	3	6				
KRTAP5-1	387264	broad.mit.edu	37	11	1606150	1606150	+	Silent	SNP	G	G	A			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr11:1606150G>A	ENST00000382171.2	-	1	363	c.330C>T	c.(328-330)ggC>ggT	p.G110G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(328-330)ggC>ggT		keratin associated protein 5-1							28.0	40.0	36.0					11																	1606150		2036	4035	6071	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606150G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.330C>T	11.37:g.1606150G>A						KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	p.G110G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	363	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	110			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.330C>T	CCDS31330.1																																																																																				0.667	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		6	32	0	0	0	1	0	6	32				
TRIM31	11074	broad.mit.edu	37	6	30080303	30080303	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr6:30080303T>C	ENST00000376734.3	-	2	405	c.280A>G	c.(280-282)Aca>Gca	p.T94A	TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.T94A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	94					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CTCGGGCATGTAGCCTCTTTC	0.488																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(280-282)Aca>Gca		tripartite motif containing 31							141.0	130.0	134.0					6																	30080303		1511	2709	4220	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30080303T>C	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.280A>G	6.37:g.30080303T>C	ENSP00000365924:p.Thr94Ala					TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.T94A	p.T94A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			2	405	-			94					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.280A>G	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	T	3.252	-0.153057	0.06585	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.56941	0.43;0.43	3.43	-1.11	0.09840	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.989207	0.08193	N	0.983503	T	0.07954	0.0199	N	0.13235	0.315	0.09310	N	1	B	0.25486	0.127	B	0.25884	0.064	T	0.19516	-1.0303	10	0.06494	T	0.89	.	0.5206	0.00611	0.229:0.1271:0.1993:0.4446	.	94	Q9BZY9	TRI31_HUMAN	A	94	ENSP00000365924:T94A;ENSP00000444311:T94A	ENSP00000365918:T94A	T	-	1	0	TRIM31	30188282	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.055000	0.11807	0.027000	0.15297	-1.529000	0.00923	ACA		0.488	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			33	42	0	0	0	1	0	33	42				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	26	0	0	0	1	0	3	26				
NF1	4763	broad.mit.edu	37	17	29686010	29686010	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr17:29686010C>T	ENST00000358273.4	+	56	8520	c.8137C>T	c.(8137-8139)Cgg>Tgg	p.R2713W	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.R2692W|NF1_ENST00000444181.2_Missense_Mutation_p.R506W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2713					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTTGTGGCGGTTTGCAGG	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8137-8139)Cgg>Tgg		neurofibromin 1							83.0	85.0	84.0					17																	29686010		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29686010C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8137C>T	17.37:g.29686010C>T	ENSP00000351015:p.Arg2713Trp	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.R2692W|NF1_ENST00000444181.2_Missense_Mutation_p.R506W	p.R2713W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	56	8520	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2713					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8137C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979881	0.74360	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.55052	2.83;2.98;2.66;0.54	5.73	-0.747	0.11091	.	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.992;0.999	T	0.74562	-0.3624	10	0.87932	D	0	.	17.4514	0.87593	0.8199:0.1801:0.0:0.0	.	506;2692;2713	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	W	2713;2692;2358;506	ENSP00000351015:R2713W;ENSP00000348498:R2692W;ENSP00000389907:R2358W;ENSP00000396481:R506W	ENSP00000348498:R2692W	R	+	1	2	NF1	26710136	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.831000	0.39141	0.017000	0.15025	-0.284000	0.09977	CGG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		16	19	0	0	0	1	0	16	19				
OR6X1	390260	broad.mit.edu	37	11	123625199	123625199	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr11:123625199A>C	ENST00000327930.2	-	1	54	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCAGGATGAATTCTGTGATT	0.413																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(28-30)Ttc>Gtc		olfactory receptor, family 6, subfamily X, member 1							100.0	93.0	95.0					11																	123625199		2199	4287	6486	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123625199A>C	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.28T>G	11.37:g.123625199A>C	ENSP00000333724:p.Phe10Val						p.F10V	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	54	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	10					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.28T>G	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928490	0.52759	.	.	ENSG00000221931	ENST00000327930	T	0.04551	3.6	4.24	4.24	0.50183	.	.	.	.	.	T	0.26629	0.0651	M	0.92317	3.295	0.36974	D	0.89396	D	0.71674	0.998	D	0.78314	0.991	T	0.41288	-0.9517	9	0.87932	D	0	-20.6153	11.3316	0.49479	1.0:0.0:0.0:0.0	.	10	Q8NH79	OR6X1_HUMAN	V	10	ENSP00000333724:F10V	ENSP00000333724:F10V	F	-	1	0	OR6X1	123130409	0.910000	0.30920	0.997000	0.53966	0.576000	0.36127	1.832000	0.39151	1.794000	0.52575	0.477000	0.44152	TTC		0.413	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		32	41	0	0	0	1	0	32	41				
KCNJ5	3762	broad.mit.edu	37	11	128786546	128786546	+	Silent	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr11:128786546C>T	ENST00000338350.4	+	4	1532	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	KCNJ5_ENST00000533599.1_Silent_p.L394L|KCNJ5_ENST00000529694.1_Silent_p.L394L			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	394					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	TGAGGCAGGGCTGGATGCAGA	0.652																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1180-1182)Ctg>Ttg		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						25.0	27.0	26.0					11																	128786546		2198	4297	6495	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128786546C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1180C>T	11.37:g.128786546C>T						KCNJ5_ENST00000533599.1_Silent_p.L394L|KCNJ5_ENST00000338350.4_Silent_p.L394L	p.L394L	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	3	1556	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	394					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.1180C>T	CCDS8479.1																																																																																				0.652	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		5	23	0	0	0	1	0	5	23				
MYH1	4619	broad.mit.edu	37	17	10397685	10397685	+	Missense_Mutation	SNP	G	G	C	rs140473978		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr17:10397685G>C	ENST00000226207.5	-	39	5747	c.5653C>G	c.(5653-5655)Caa>Gaa	p.Q1885E	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1885					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCAGCTTGTCTCTTGTAG	0.428																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5653-5655)Caa>Gaa		myosin, heavy chain 1, skeletal muscle, adult							142.0	146.0	145.0					17																	10397685		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10397685G>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5653C>G	17.37:g.10397685G>C	ENSP00000226207:p.Gln1885Glu					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.Q1885E	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			39	5747	-			1885					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5653C>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003212	0.74932	.	.	ENSG00000109061	ENST00000226207	D	0.83591	-1.74	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.41938	U	0.000785	D	0.92538	0.7630	H	0.98068	4.14	0.39793	D	0.972466	P	0.38020	0.615	P	0.45474	0.482	D	0.94763	0.7938	10	0.87932	D	0	.	19.4684	0.94952	0.0:0.0:1.0:0.0	.	1885	P12882	MYH1_HUMAN	E	1885	ENSP00000226207:Q1885E	ENSP00000226207:Q1885E	Q	-	1	0	MYH1	10338410	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.841000	0.55850	2.662000	0.90505	0.655000	0.94253	CAA		0.428	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		26	49	0	0	0	1	0	26	49				
ST6GAL2	84620	broad.mit.edu	37	2	107460368	107460368	+	Silent	SNP	G	G	A			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr2:107460368G>A	ENST00000409382.3	-	2	676	c.66C>T	c.(64-66)ctC>ctT	p.L22L	ST6GAL2_ENST00000409087.3_Silent_p.L22L|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Silent_p.L22L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	22					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCAGCAAAAAGAGGAGCCCCC	0.537																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(64-66)ctC>ctT		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							45.0	53.0	51.0					2																	107460368		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460368G>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.66C>T	2.37:g.107460368G>A						ST6GAL2_ENST00000409087.3_Silent_p.L22L|ST6GAL2_ENST00000361686.4_Silent_p.L22L	p.L22L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	676	-			22					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.66C>T	CCDS2073.1																																																																																				0.537	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		13	29	0	0	0	1	0	13	29				
REM1	28954	broad.mit.edu	37	20	30064255	30064255	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr20:30064255C>T	ENST00000201979.2	+	2	300	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	3					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGATGACACTCAACACCGA	0.577																																						ENST00000201979.2																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(7-9)Ctc>Ttc		RAS (RAD and GEM)-like GTP-binding 1							103.0	118.0	113.0					20																	30064255		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064255C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.7C>T	20.37:g.30064255C>T	ENSP00000201979:p.Leu3Phe					DEFB124_ENST00000481595.1_Intron	p.L3F	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	300	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		3					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.7C>T	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350891	0.61183	.	.	ENSG00000088320	ENST00000201979	T	0.72725	-0.68	4.44	4.44	0.53790	.	0.000000	0.56097	D	0.000036	T	0.74176	0.3682	L	0.27053	0.805	0.46376	D	0.99901	D	0.89917	1.0	D	0.85130	0.997	T	0.77253	-0.2656	10	0.87932	D	0	.	12.4533	0.55688	0.0:1.0:0.0:0.0	.	3	O75628	REM1_HUMAN	F	3	ENSP00000201979:L3F	ENSP00000201979:L3F	L	+	1	0	REM1	29527916	0.999000	0.42202	1.000000	0.80357	0.424000	0.31475	2.751000	0.47508	2.278000	0.76064	0.655000	0.94253	CTC		0.577	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		3	40	0	0	0	1	0	3	40				
PMP2	5375	broad.mit.edu	37	8	82355665	82355665	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr8:82355665C>T	ENST00000256103.2	-	4	503	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	PMP2_ENST00000519260.1_3'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	123					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GTGCACACCACGCCCTTCATT	0.313																																						ENST00000256103.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(367-369)Gtg>Atg		peripheral myelin protein 2							103.0	103.0	103.0					8																	82355665		2203	4297	6500	SO:0001583	missense	5375					cytoplasm	cholesterol binding|fatty acid binding|transporter activity	g.chr8:82355665C>T	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"""Fatty acid binding protein family"""	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.367G>A	8.37:g.82355665C>T	ENSP00000256103:p.Val123Met					RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_3'UTR	p.V123M	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	Epithelial(68;0.186)		4	503	-			123					Q6FHL4	Missense_Mutation	SNP	ENST00000256103.2	37	c.367G>A	CCDS6229.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810970	0.70797	.	.	ENSG00000147588	ENST00000256103	T	0.09350	2.99	5.29	4.37	0.52481	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.062187	0.64402	D	0.000004	T	0.33818	0.0876	M	0.90082	3.085	0.80722	D	1	D	0.58970	0.984	P	0.59643	0.861	T	0.30446	-0.9978	10	0.87932	D	0	.	10.7465	0.46183	0.0:0.9048:0.0:0.0952	.	123	P02689	MYP2_HUMAN	M	123	ENSP00000256103:V123M	ENSP00000256103:V123M	V	-	1	0	PMP2	82518220	0.003000	0.15002	0.977000	0.42913	0.968000	0.65278	0.431000	0.21444	1.302000	0.44855	0.585000	0.79938	GTG		0.313	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		128	67	0	0	0	1	0	128	67				
SPTA1	6708	broad.mit.edu	37	1	158651379	158651379	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr1:158651379C>A	ENST00000368147.4	-	4	649	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	157					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACTTCAGGGCCCGCAGCAAC	0.527																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(469-471)Gcc>Tcc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							179.0	183.0	182.0					1																	158651379		2028	4187	6215	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158651379C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.469G>T	1.37:g.158651379C>A	ENSP00000357129:p.Ala157Ser					SPTA1_ENST00000368147.3_Missense_Mutation_p.A157S	p.A157S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			4	649	-	all_hematologic(112;0.0378)		157					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.469G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297590	0.40694	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37235	1.21;1.21	5.15	4.25	0.50352	.	.	.	.	.	T	0.24624	0.0597	M	0.69823	2.125	0.43512	D	0.995779	B	0.25772	0.134	B	0.34991	0.193	T	0.08289	-1.0729	9	0.18710	T	0.47	.	12.486	0.55872	0.0:0.9191:0.0:0.0809	.	157	P02549	SPTA1_HUMAN	S	157	ENSP00000357130:A157S;ENSP00000357129:A157S	ENSP00000357129:A157S	A	-	1	0	SPTA1	156918003	1.000000	0.71417	0.272000	0.24630	0.114000	0.19823	3.358000	0.52284	1.401000	0.46761	0.563000	0.77884	GCC		0.527	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		46	57	1	0	2.46787e-29	1	2.6794e-29	46	57				
CHST13	166012	broad.mit.edu	37	3	126260911	126260911	+	Silent	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr3:126260911C>T	ENST00000319340.2	+	3	566	c.516C>T	c.(514-516)ttC>ttT	p.F172F		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	172					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCTTCCTGTTCGTGCGGGAGC	0.706																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(514-516)ttC>ttT		carbohydrate (chondroitin 4) sulfotransferase 13							9.0	11.0	10.0					3																	126260911		2142	4206	6348	SO:0001819	synonymous_variant	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260911C>T	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.516C>T	3.37:g.126260911C>T							p.F172F	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	566	+			172					Q3SYA3|Q3SYA5	Silent	SNP	ENST00000319340.2	37	c.516C>T	CCDS3039.1																																																																																				0.706	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		6	7	0	0	0	1	0	6	7				
MAGEA10	4109	broad.mit.edu	37	X	151303817	151303817	+	Silent	SNP	G	G	A			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chrX:151303817G>A	ENST00000370323.4	-	4	592	c.276C>T	c.(274-276)tcC>tcT	p.S92S	MAGEA10_ENST00000244096.3_Silent_p.S92S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	92						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCGAGGGGGAGGAGCAGGCTA	0.552																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(274-276)tcC>tcT		melanoma antigen family A, 10							172.0	174.0	174.0					X																	151303817		2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303817G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.276C>T	X.37:g.151303817G>A						MAGEA10_ENST00000244096.3_Silent_p.S92S|RP11-1007I13.4_ENST00000509345.2_RNA	p.S92S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	592	-	Acute lymphoblastic leukemia(192;6.56e-05)		92						Silent	SNP	ENST00000370323.4	37	c.276C>T	CCDS14705.1																																																																																				0.552	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	79	0	0	0	1	0	9	79				
PTPRD	5789	broad.mit.edu	37	9	8521460	8521460	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr9:8521460C>T	ENST00000381196.4	-	17	1321	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	PTPRD_ENST00000358503.5_Missense_Mutation_p.V247M|PTPRD_ENST00000355233.5_Missense_Mutation_p.V260M|PTPRD_ENST00000486161.1_Missense_Mutation_p.V260M|PTPRD_ENST00000397617.3_Missense_Mutation_p.V250M|PTPRD_ENST00000540109.1_Missense_Mutation_p.V260M|PTPRD_ENST00000356435.5_Missense_Mutation_p.V260M|PTPRD_ENST00000397606.3_Missense_Mutation_p.V250M|PTPRD_ENST00000397611.3_Missense_Mutation_p.V257M|PTPRD_ENST00000537002.1_Missense_Mutation_p.V257M|PTPRD_ENST00000360074.4_Missense_Mutation_p.V247M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	260	Ig-like C2-type 3.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTGACCCCACGGCCACACAG	0.473										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(778-780)Gtg>Atg		protein tyrosine phosphatase, receptor type, D							149.0	130.0	136.0					9																	8521460		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521460C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.778G>A	9.37:g.8521460C>T	ENSP00000370593:p.Val260Met	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.V260M|PTPRD_ENST00000360074.4_Missense_Mutation_p.V247M|PTPRD_ENST00000537002.1_Missense_Mutation_p.V257M|PTPRD_ENST00000358503.5_Missense_Mutation_p.V247M|PTPRD_ENST00000486161.1_Missense_Mutation_p.V260M|PTPRD_ENST00000356435.5_Missense_Mutation_p.V260M|PTPRD_ENST00000355233.5_Missense_Mutation_p.V260M|PTPRD_ENST00000397606.3_Missense_Mutation_p.V250M|PTPRD_ENST00000397611.3_Missense_Mutation_p.V257M|PTPRD_ENST00000397617.3_Missense_Mutation_p.V250M	p.V260M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	17	1321	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	260			Ig-like C2-type 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.778G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436326	0.83885	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82577	0.5067	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.996;0.997;0.973;0.973;0.993;0.999;0.994	T	0.81210	-0.1036	9	.	.	.	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	250;254;260;260;257;257;247;260;260	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	M	260;260;247;247;260;250;257;257;260;260;260;250	ENSP00000370593:V260M;ENSP00000348812:V260M;ENSP00000353187:V247M;ENSP00000351293:V247M;ENSP00000347373:V260M;ENSP00000380741:V250M;ENSP00000380735:V257M;ENSP00000440515:V257M;ENSP00000438164:V260M;ENSP00000417093:V260M;ENSP00000380731:V250M	.	V	-	1	0	PTPRD	8511460	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.044000	0.71012	2.756000	0.94617	0.655000	0.94253	GTG		0.473	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	58	0	0	0	1	0	3	58				
MFSD12	126321	broad.mit.edu	37	19	3551171	3551171	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr19:3551171G>A	ENST00000355415.2	-	2	489	c.320C>T	c.(319-321)tCc>tTc	p.S107F	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.S107F|MFSD12_ENST00000389395.3_Missense_Mutation_p.S107F|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	107					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GAAGGGGAAGGACAGCAGGAC	0.662																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(319-321)tCc>tTc		major facilitator superfamily domain containing 12							26.0	32.0	30.0					19																	3551171		2099	4219	6318	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3551171G>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.320C>T	19.37:g.3551171G>A	ENSP00000347583:p.Ser107Phe					AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.S107F|MFSD12_ENST00000389395.3_Missense_Mutation_p.S107F	p.S107F	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			2	489	-			107					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.320C>T	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960737	0.92791	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.87103	-2.21;-2.21;-2.21	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.93233	0.6619	10	0.32370	T	0.25	-53.4179	17.5569	0.87894	0.0:0.0:1.0:0.0	.	107;98;107	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	F	107	ENSP00000374046:S107F;ENSP00000381566:S107F;ENSP00000347583:S107F	ENSP00000347583:S107F	S	-	2	0	C19orf28	3502171	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.121000	0.77160	2.393000	0.81446	0.462000	0.41574	TCC		0.662	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		6	8	0	0	0	1	0	6	8				
CCDC130	81576	broad.mit.edu	37	19	13873213	13873213	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr19:13873213G>A	ENST00000586600.1	+	10	1177	c.674G>A	c.(673-675)cGc>cAc	p.R225H	MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.R225H			P13994	CC130_HUMAN	coiled-coil domain containing 130	225					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GAAGATGACCGCAAGCTGGCG	0.622																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(673-675)cGc>cAc		coiled-coil domain containing 130							56.0	59.0	58.0					19																	13873213		2203	4300	6503	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873213G>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.674G>A	19.37:g.13873213G>A	ENSP00000465776:p.Arg225His					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.R225H	p.R225H			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		10	1177	+			225					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.674G>A	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.343977	0.82022	.	.	ENSG00000104957	ENST00000221554	T	0.34275	1.37	4.73	4.73	0.59995	.	0.126777	0.52532	D	0.000074	T	0.57066	0.2028	M	0.85462	2.755	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.61722	0.893;0.893	T	0.62680	-0.6803	10	0.62326	D	0.03	-29.9039	8.9977	0.36063	0.1015:0.0:0.8985:0.0	.	225;225	B3KUZ1;P13994	.;CC130_HUMAN	H	225	ENSP00000221554:R225H	ENSP00000221554:R225H	R	+	2	0	CCDC130	13734213	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	3.871000	0.56077	2.208000	0.71279	0.555000	0.69702	CGC		0.622	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		3	38	0	0	0	1	0	3	38				
CCNT2	905	broad.mit.edu	37	2	135711337	135711337	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr2:135711337delA	ENST00000264157.5	+	9	1342	c.1312delA	c.(1312-1314)aaafs	p.K438fs	CCNT2_ENST00000295238.6_Frame_Shift_Del_p.K438fs|CCNT2_ENST00000537343.1_Frame_Shift_Del_p.K263fs	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	438					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GTCTTTAGATAAATATAGAGA	0.393																																						ENST00000264157.5																			0				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1312-1314)aafs		cyclin T2							45.0	49.0	47.0					2																	135711337		2202	4299	6501	SO:0001589	frameshift_variant	905				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	g.chr2:135711337delA	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1312delA	2.37:g.135711337delA	ENSP00000264157:p.Lys438fs					CCNT2_ENST00000295238.6_Frame_Shift_Del_p.K438fs|CCNT2_ENST00000537343.1_Frame_Shift_Del_p.K263fs	p.K438fs	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.107)	9	1342	+			438					A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Frame_Shift_Del	DEL	ENST00000264157.5	37	c.1312delA	CCDS2174.1																																																																																				0.393	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241		2	4						2	4	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT								NR_003264.2						0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	4						3	4	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708855	180708855	+	lincRNA	DEL	G	G	-	rs60396213		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr5:180708855delG	ENST00000412295.2	+	0	238																											AGCGGTAGGAGGGGGGCTGGA	0.697																																						ENST00000412295.2																			0																																																			0							g.chr5:180708855delG																													5.37:g.180708855delG														0	238	+									RNA	DEL	ENST00000412295.2	37																																																																																						0.697	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			6	7						6	7	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378732	31378732	+	Frame_Shift_Del	DEL	C	C	-	rs201546258		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr7:31378732delC	ENST00000297142.3	-	2	473	c.151delG	c.(151-153)gccfs	p.A51fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	51					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						tctccAGGGGCCCTTTTGATG	0.448																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(151-153)ccfs		neuronal differentiation 6							152.0	155.0	154.0					7																	31378732		2203	4300	6503	SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378732delC	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.151delG	7.37:g.31378732delC	ENSP00000297142:p.Ala51fs						p.A51fs	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	473	-			51					Q548T9|Q9H3H6	Frame_Shift_Del	DEL	ENST00000297142.3	37	c.151delG	CCDS5434.1																																																																																				0.448	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		16	32						16	32	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49447049	49447050	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr12:49447049_49447050delGG	ENST00000301067.7	-	7	893_894	c.894_895delCC	c.(892-897)taccatfs	p.YH298fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	298	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGAAAGTATGGTATCCTTTGT	0.48																																						ENST00000301067.7																			0											c.(892-897)taatfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49447049_49447050delGG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.894_895delCC	12.37:g.49447049_49447050delGG	ENSP00000301067:p.Tyr298fs						p.YH298fs	NM_003482.3	NP_003473.3					7	893_894	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.894_895delCC	CCDS44873.1																																																																																				0.480	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			25	60						25	60	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061233	38061241	+	In_Frame_Del	DEL	GTTGCCGGA	GTTGCCGGA	-	rs539948672|rs202209403		TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr14:38061233_38061241delGTTGCCGGA	ENST00000250448.2	-	2	809_817	c.748_756delTCCGGCAAC	c.(748-756)tccggcaacdel	p.SGN250del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.SGN217del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	250					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCTCGAACATGTTGCCGGAGTCCGGGTGC	0.684																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(748-756)del		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding	g.chr14:38061233_38061241delGTTGCCGGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.748_756delTCCGGCAAC	14.37:g.38061233_38061241delGTTGCCGGA	ENSP00000250448:p.Ser250_Asn252del					FOXA1_ENST00000540786.1_In_Frame_Del_p.SGN217del|FOXA1_ENST00000545425.2_5'UTR	p.SGN250del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	809_817	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		250					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.748_756delTCCGGCAAC	CCDS9665.1																																																																																				0.684	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			9	18						9	18	---	---	---	---
DPF1	8193	broad.mit.edu	37	19	38702939	38702939	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A8MM-01A-11D-A377-08	TCGA-V1-A8MM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	508c5ad2-f778-4997-84bb-f8a060fc3286	68397e1f-276f-4831-b395-7aec3cffaf4e	g.chr19:38702939delG	ENST00000420980.2	-	10	1079	c.1053delC	c.(1051-1053)cccfs	p.P351fs	DPF1_ENST00000414789.1_Frame_Shift_Del_p.P303fs|DPF1_ENST00000456296.1_Frame_Shift_Del_p.P359fs|DPF1_ENST00000416611.1_Frame_Shift_Del_p.P369fs|DPF1_ENST00000355526.4_Frame_Shift_Del_p.P385fs|DPF1_ENST00000412732.1_Frame_Shift_Del_p.P303fs	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	351					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTCCGCCATGGGGGGACTCA	0.657																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(1105-1107)ccfs		D4, zinc and double PHD fingers family 1							11.0	11.0	11.0					19																	38702939		2164	4191	6355	SO:0001589	frameshift_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38702939delG	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.1053delC	19.37:g.38702939delG	ENSP00000397354:p.Pro351fs					DPF1_ENST00000412732.1_Frame_Shift_Del_p.P303fs|DPF1_ENST00000456296.1_Frame_Shift_Del_p.P359fs|DPF1_ENST00000355526.4_Frame_Shift_Del_p.P385fs|DPF1_ENST00000420980.2_Frame_Shift_Del_p.P351fs|DPF1_ENST00000414789.1_Frame_Shift_Del_p.P303fs	p.P369fs			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		11	1230	-	all_cancers(60;1.24e-06)		351					B3KSY8|Q08AJ0	Frame_Shift_Del	DEL	ENST00000420980.2	37	c.1107delC	CCDS33008.2																																																																																				0.657	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			2	4						2	4	---	---	---	---
