#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
MSLNL	401827	broad.mit.edu	37	16	830799	830799	+	Intron	SNP	T	T	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:830799T>G	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.T68P			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(202-204)Acc>Ccc		mesothelin-like							143.0	138.0	140.0					16																	830799		2127	4240	6367	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830799T>G			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-637A>C	16.37:g.830799T>G						MSLNL_ENST00000442466.1_Intron	p.T68P			Q96KJ4	MSLNL_HUMAN			3	201	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.202A>C		.	.	.	.	.	.	.	.	.	.	-	0.050	-1.254173	0.01457	.	.	ENSG00000162006	ENST00000293892	T	0.23950	1.88	1.06	-2.13	0.07144	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15065	-1.0450	5	.	.	.	.	5.6142	0.17422	0.0:0.2906:0.5047:0.2047	.	.	.	.	P	68	ENSP00000293892:T68P	.	T	-	1	0	MSLNL	770800	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.354000	0.00129	-3.380000	0.00175	-1.687000	0.00730	ACC		0.592	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		5	261	0	0	0	1	0	5	261				
SPANXD	64648	broad.mit.edu	37	X	140785743	140785743	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrX:140785743T>A	ENST00000370515.3	-	2	506	c.173A>T	c.(172-174)aAc>aTc	p.N58I		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	58						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTTTAAAGTTCCTCCTGTA	0.483																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(172-174)aAc>aTc		SPANX family, member D							237.0	184.0	202.0					X																	140785743		2202	4287	6489	SO:0001583	missense	64648							g.chrX:140785743T>A	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.173A>T	X.37:g.140785743T>A	ENSP00000359546:p.Asn58Ile						p.N58I	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	506	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.173A>T	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	10.09	1.253769	0.22965	.	.	ENSG00000196406	ENST00000370515	T	0.06933	3.24	.	.	.	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	P	0.48998	0.918	P	0.49140	0.601	T	0.16988	-1.0384	6	0.72032	D	0.01	.	.	.	.	.	58	Q9BXN6	SPNXD_HUMAN	I	58	ENSP00000359546:N58I	ENSP00000359546:N58I	N	-	2	0	SPANXD	140613409	0.006000	0.16342	0.005000	0.12908	0.006000	0.05464	0.065000	0.14466	0.358000	0.24211	0.058000	0.15282	AAC		0.483	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			21	203	0	0	0	1	0	21	203				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	108	1	0	0.000602214	1	0.000611203	4	108				
ETV6	2120	broad.mit.edu	37	12	12037452	12037452	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:12037452G>A	ENST00000396373.4	+	6	1357	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	361					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCCGATGGGAGGACAAAGAAT	0.463			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1081-1083)gaG>gaA		ets variant 6							145.0	131.0	136.0					12																	12037452		2203	4300	6503	SO:0001819	synonymous_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12037452G>A	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1083G>A	12.37:g.12037452G>A							p.E361E	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			6	1357	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	361					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	c.1083G>A	CCDS8643.1																																																																																				0.463	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		3	116	0	0	0	1	0	3	116				
CD86	942	broad.mit.edu	37	3	121828209	121828209	+	Silent	SNP	A	A	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:121828209A>T	ENST00000330540.2	+	5	917	c.801A>T	c.(799-801)ctA>ctT	p.L267L	CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000493101.1_Silent_p.L155L|CD86_ENST00000264468.5_Silent_p.L54L|CD86_ENST00000469710.1_Silent_p.L185L	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	267					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GTCTAATTCTATGGAAATGGA	0.458																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(799-801)ctA>ctT		CD86 molecule	Abatacept(DB01281)						145.0	143.0	144.0					3																	121828209		2203	4300	6503	SO:0001819	synonymous_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121828209A>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.801A>T	3.37:g.121828209A>T						CD86_ENST00000264468.5_Silent_p.L54L|CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000493101.1_Silent_p.L155L	p.L267L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	5	917	+			267					A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Silent	SNP	ENST00000330540.2	37	c.801A>T	CCDS3009.1																																																																																				0.458	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		51	92	0	0	0	1	0	51	92				
CCDC74B	91409	broad.mit.edu	37	2	130902456	130902456	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:130902456G>C	ENST00000310463.6	-	1	251	c.114C>G	c.(112-114)agC>agG	p.S38R	CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	38										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGAGCTGCGGGCTCTGCGGCC	0.716																																						ENST00000310463.6																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(112-114)agC>agG		coiled-coil domain containing 74B							23.0	24.0	23.0					2																	130902456		2197	4296	6493	SO:0001583	missense	91409							g.chr2:130902456G>C		CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.114C>G	2.37:g.130902456G>C	ENSP00000308873:p.Ser38Arg					CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R	p.S38R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN			1	251	-	Colorectal(110;0.1)		38					Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	c.114C>G	CCDS2155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.34|13.34	2.206925|2.206925	0.39003|0.39003	.|.	.|.	ENSG00000152076|ENSG00000152076	ENST00000457413|ENST00000409943;ENST00000310463;ENST00000409488;ENST00000409128;ENST00000418636;ENST00000409234;ENST00000441670	.|T;T;T	.|0.46451	.|1.88;1.87;0.87	2.59|2.59	-0.048|-0.048	0.13840|0.13840	.|.	.|.	.|.	.|.	.|.	T|T	0.38268|0.38268	0.1034|0.1034	N|N	0.22421|0.22421	0.69|0.69	0.20307|0.20307	N|N	0.999915|0.999915	.|D;P;P	.|0.59767	.|0.986;0.531;0.523	.|P;B;B	.|0.53912	.|0.737;0.189;0.381	T|T	0.31998|0.31998	-0.9923|-0.9923	5|9	.|0.54805	.|T	.|0.06	.|.	9.3734|9.3734	0.38268|0.38268	0.0:0.6314:0.3686:0.0|0.0:0.6314:0.3686:0.0	.|.	.|38;38;38	.|E9PG54;Q96LY2-2;Q96LY2	.|.;.;CC74B_HUMAN	A|R	38|38	.|ENSP00000386294:S38R;ENSP00000308873:S38R;ENSP00000386644:S38R	.|ENSP00000308873:S38R	P|S	-|-	1|3	0|2	CCDC74B|CCDC74B	130618926|130618926	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.083000|0.083000	0.17756|0.17756	0.036000|0.036000	0.13819|0.13819	-0.207000|-0.207000	0.10187|0.10187	0.291000|0.291000	0.19559|0.19559	CCC|AGC		0.716	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310		17	24	0	0	0	1	0	17	24				
FYCO1	79443	broad.mit.edu	37	3	46021201	46021201	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:46021201G>A	ENST00000296137.2	-	4	489	c.284C>T	c.(283-285)tCa>tTa	p.S95L	FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	95	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTTACCTCTGAGATAGACTT	0.498																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(283-285)tCa>tTa		FYVE and coiled-coil domain containing 1							190.0	163.0	172.0					3																	46021201		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46021201G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.284C>T	3.37:g.46021201G>A	ENSP00000296137:p.Ser95Leu					FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	p.S95L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	4	489	-			95			RUN.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.284C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948924	0.53186	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.12774	2.65;2.65	5.36	4.49	0.54785	RUN (2);	0.429079	0.22706	N	0.056633	T	0.18635	0.0447	N	0.22421	0.69	0.33583	D	0.600149	D;P	0.59767	0.986;0.772	P;P	0.57204	0.815;0.609	T	0.19976	-1.0289	10	0.54805	T	0.06	-1.9519	12.6484	0.56748	0.0771:0.0:0.9229:0.0	.	95;95	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	L	95	ENSP00000296137:S95L;ENSP00000441178:S95L	ENSP00000296137:S95L	S	-	2	0	FYCO1	45996205	1.000000	0.71417	0.042000	0.18584	0.235000	0.25334	6.366000	0.73095	1.275000	0.44379	-0.347000	0.07816	TCA		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		38	89	0	0	0	1	0	38	89				
MT-ND4	4538	broad.mit.edu	37	M	11280	11280	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrM:11280T>C	ENST00000361381.2	+	1	521	c.521T>C	c.(520-522)cTa>cCa	p.L174P	MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	174					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCTAGGCTCACTAAACATTCT	0.428																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(520-522)cTa>cCa		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11280T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.521T>C	M.37:g.11280T>C	ENSP00000354961:p.Leu174Pro						p.174_174insP							1	521	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.521T>C																																																																																					0.428	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		3	2	0	0	0	1	0	3	2				
NAPSA	9476	broad.mit.edu	37	19	50864267	50864267	+	Missense_Mutation	SNP	C	C	T	rs367832264		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:50864267C>T	ENST00000253719.2	-	5	807	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	200					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CATCGGGGGCCGAACTCCTTC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18065	0.0		0.0	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(598-600)cGg>cAg		napsin A aspartic peptidase		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	79.0	76.0	77.0		599	-5.1	0.9	19		77	0,8600		0,0,4300	no	missense	NAPSA	NM_004851.1	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	200/421	50864267	2,13004	2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864267C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.599G>A	19.37:g.50864267C>T	ENSP00000253719:p.Arg200Gln					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.R200Q	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	5	807	-		all_neural(266;0.057)	200					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.599G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858373	0.17178	4.54E-4	0.0	ENSG00000131400	ENST00000253719	T	0.57107	0.42	4.09	-5.08	0.02929	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.599151	0.18303	N	0.145372	T	0.17152	0.0412	N	0.02708	-0.52	0.19945	N	0.999947	B	0.24882	0.113	B	0.13407	0.009	T	0.32955	-0.9887	10	0.12103	T	0.63	.	6.5378	0.22363	0.0:0.1438:0.2672:0.589	.	200	O96009	NAPSA_HUMAN	Q	200	ENSP00000253719:R200Q	ENSP00000253719:R200Q	R	-	2	0	NAPSA	55556079	0.006000	0.16342	0.896000	0.35187	0.585000	0.36419	0.485000	0.22324	-0.694000	0.05113	0.491000	0.48974	CGG		0.537	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		29	57	0	0	0	1	0	29	57				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	67	0	0	0	1	0	4	67				
TNXB	7148	broad.mit.edu	37	6	32020750	32020750	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr6:32020750C>T	ENST00000375244.3	-	26	9013	c.8812G>A	c.(8812-8814)Gcc>Acc	p.A2938T	TNXB_ENST00000375247.2_Missense_Mutation_p.A2936T			P22105	TENX_HUMAN	tenascin XB	2983	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGTGGGGGCGGGAGTTTCT	0.642																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8812-8814)Gcc>Acc		tenascin XB							35.0	42.0	39.0					6																	32020750		1196	2515	3711	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020750C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8812G>A	6.37:g.32020750C>T	ENSP00000364393:p.Ala2938Thr					TNXB_ENST00000375247.2_Missense_Mutation_p.A2936T	p.A2938T			P22105	TENX_HUMAN			26	9013	-			2983			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8812G>A		.	.	.	.	.	.	.	.	.	.	c	2.655	-0.281105	0.05642	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56776	0.62;0.44	4.47	-5.38	0.02673	.	2.255640	0.02328	N	0.073662	T	0.09686	0.0238	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.06844	-1.0804	10	0.10902	T	0.67	.	11.6875	0.51494	0.0:0.6245:0.0:0.3755	.	2936	P22105-3	.	T	2938;2936	ENSP00000364393:A2938T;ENSP00000364396:A2936T	ENSP00000364393:A2938T	A	-	1	0	TNXB	32128728	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-1.335000	0.02662	-1.013000	0.03383	-0.229000	0.12294	GCC		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		23	47	0	0	0	1	0	23	47				
HCN3	57657	broad.mit.edu	37	1	155255754	155255754	+	Splice_Site	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:155255754G>T	ENST00000368358.3	+	6	1484	c.1476G>T	c.(1474-1476)ggG>ggT	p.G492G	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	492					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTACTTTGGGGGTCAGCAGG	0.647																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e6+1		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							59.0	66.0	64.0					1																	155255754		2203	4300	6503	SO:0001630	splice_region_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155255754G>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1477+1G>T	1.37:g.155255754G>T						HCN3_ENST00000496230.1_3'UTR	p.G492_splice	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	1484	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		492					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Splice_Site	SNP	ENST00000368358.3	37	c.1477_splice	CCDS1108.1																																																																																				0.647	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	Silent	54	114	1	0	5.82089e-37	1	6.1847e-37	54	114				
CLTCL1	8218	broad.mit.edu	37	22	19209025	19209025	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:19209025C>T	ENST00000263200.10	-	17	2743	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E891K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E891K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	891	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGAAGCACTCGGGGCTGTTG	0.577			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2671-2673)Gag>Aag		clathrin, heavy chain-like 1							35.0	36.0	36.0					22																	19209025		2097	4255	6352	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19209025C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2671G>A	22.37:g.19209025C>T	ENSP00000445677:p.Glu891Lys					CLTCL1_ENST00000353891.5_Missense_Mutation_p.E891K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E891K	p.E891K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			17	2743	-	Colorectal(54;0.0993)		891			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2671G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673145	0.67928	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.29655	1.56;1.56;1.56	3.63	3.63	0.41609	Tetratricopeptide-like helical (1);Armadillo-type fold (2);	0.000000	0.64402	D	0.000001	T	0.60907	0.2305	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69950	-0.5006	10	0.51188	T	0.08	-14.7671	15.456	0.75314	0.0:1.0:0.0:0.0	.	891;891	P53675-2;P53675	.;CLH2_HUMAN	K	891	ENSP00000439662:E891K;ENSP00000445677:E891K;ENSP00000441158:E891K	ENSP00000445677:E891K	E	-	1	0	CLTCL1	17589025	1.000000	0.71417	0.165000	0.22776	0.186000	0.23388	5.233000	0.65337	1.880000	0.54463	0.462000	0.41574	GAG		0.577	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		4	15	0	0	0	1	0	4	15				
SPPL2B	56928	broad.mit.edu	37	19	2345262	2345262	+	RNA	SNP	G	G	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:2345262G>C	ENST00000452401.2	+	0	1365							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGGTGGCCTACTGCCA	0.667																																						ENST00000452401.2																			0													signal peptide peptidase like 2B							65.0	70.0	68.0					19																	2345262		1991	4159	6150			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2345262G>C		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2345262G>C						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1365	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	37			.	.	.	.	.	.	.	.	.	.	G	21.9	4.220512	0.79464	.	.	ENSG00000005206	ENST00000452401	.	.	.	4.02	4.02	0.46733	.	0.185192	0.46442	D	0.000291	T	0.77685	0.4167	.	.	.	0.45718	D	0.998625	D;D	0.71674	0.998;0.988	D;D	0.67231	0.95;0.938	D	0.84795	0.0781	7	0.87932	D	0	-31.4517	14.7321	0.69388	0.0:0.0:1.0:0.0	.	430;429	Q8TCT7;C9JFE6	PSL1_HUMAN;.	P	429	.	ENSP00000404539:A429P	A	+	1	0	AC004410.1	2296262	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.697000	0.98697	1.801000	0.52704	0.401000	0.26515	GCC		0.667	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		30	50	0	0	0	1	0	30	50				
TRIB1	10221	broad.mit.edu	37	8	126448347	126448347	+	Silent	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr8:126448347T>C	ENST00000519576.1	+	2	323	c.60T>C	c.(58-60)ccT>ccC	p.P20P	TRIB1_ENST00000311922.3_Silent_p.P251P|TRIB1_ENST00000520847.1_Silent_p.P85P					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ACGTGAGCCCTGAGATCCTCA	0.537																																						ENST00000311922.3																			0				NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(751-753)ccT>ccC		tribbles pseudokinase 1							85.0	74.0	78.0					8																	126448347		2203	4300	6503	SO:0001819	synonymous_variant	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126448347T>C	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.60T>C	8.37:g.126448347T>C						TRIB1_ENST00000519576.1_Silent_p.P20P|TRIB1_ENST00000520847.1_Silent_p.P85P	p.P251P	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		3	1335	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		251			Protein kinase.			Silent	SNP	ENST00000519576.1	37	c.753T>C																																																																																					0.537	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195		3	71	0	0	0	1	0	3	71				
TTN	7273	broad.mit.edu	37	2	179648886	179648886	+	Missense_Mutation	SNP	C	C	T	rs376768790	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:179648886C>T	ENST00000591111.1	-	16	2910	c.2686G>A	c.(2686-2688)Gtt>Att	p.V896I	TTN_ENST00000342175.6_Missense_Mutation_p.V850I|TTN_ENST00000589042.1_Missense_Mutation_p.V896I|TTN_ENST00000342992.6_Missense_Mutation_p.V896I|TTN_ENST00000359218.5_Missense_Mutation_p.V850I|TTN_ENST00000460472.2_Missense_Mutation_p.V850I|TTN_ENST00000360870.5_Missense_Mutation_p.V896I			Q8WZ42	TITIN_HUMAN	titin	33718					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V850I(3)|p.V896I(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCTCAACGCCAGCTTCA	0.547													C|||	3	0.000599042	0.0008	0.0	5008	,	,		16490	0.001		0.001	False		,,,				2504	0.0					ENST00000589042.1																			5	Substitution - Missense(5)	p.V850I(3)|p.V896I(2)	large_intestine(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(2686-2688)Gtt>Att		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	157.0	124.0	135.0		2548,2548,2686,2686,2548	1.8	1.0	2		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133379.3,NM_133378.4,NM_003319.4	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	850/27119,850/27052,896/5605,896/33424,850/26927	179648886	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648886C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2686G>A	2.37:g.179648886C>T	ENSP00000465570:p.Val896Ile					TTN_ENST00000460472.2_Missense_Mutation_p.V850I|TTN_ENST00000360870.5_Missense_Mutation_p.V896I|TTN_ENST00000359218.5_Missense_Mutation_p.V850I|TTN_ENST00000342992.6_Missense_Mutation_p.V896I|TTN_ENST00000342175.6_Missense_Mutation_p.V850I|TTN_ENST00000591111.1_Missense_Mutation_p.V896I	p.V896I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2910	-			896					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.2686G>A		.	.	.	.	.	.	.	.	.	.	C	9.914	1.210309	0.22289	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.61627	0.09;0.27;0.25;0.26;0.5	5.52	1.84	0.25277	Ribonuclease H-like (1);	.	.	.	.	T	0.31918	0.0812	N	0.02247	-0.625	0.19575	N	0.999969	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.28459	-1.0043	9	0.87932	D	0	.	10.5203	0.44914	0.0:0.2293:0.0:0.7707	.	850;850;850;896;896	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	896;850;850;850;850;896	ENSP00000343764:V896I;ENSP00000434586:V850I;ENSP00000340554:V850I;ENSP00000352154:V850I;ENSP00000354117:V896I	ENSP00000340554:V850I	V	-	1	0	TTN	179357131	0.550000	0.26489	0.995000	0.50966	0.392000	0.30506	0.262000	0.18460	0.138000	0.18790	-1.084000	0.02203	GTT		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	92	0	0	0	1	0	43	92				
MYO7A	4647	broad.mit.edu	37	11	76893185	76893185	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:76893185C>T	ENST00000409709.3	+	24	3365	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	MYO7A_ENST00000458637.2_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000409893.1_Silent_p.D1031D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1031	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCATGACGACGAGGGTGACC	0.602																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3091-3093)gaC>gaT		myosin VIIA							45.0	52.0	50.0					11																	76893185		2101	4206	6307	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76893185C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3093C>T	11.37:g.76893185C>T						MYO7A_ENST00000458637.2_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000409893.1_Silent_p.D1031D	p.D1031D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			24	3365	+			1031			MyTH4 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.3093C>T	CCDS53683.1																																																																																				0.602	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		5	118	0	0	0	1	0	5	118				
POLR1B	84172	broad.mit.edu	37	2	113332905	113332905	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:113332905C>G	ENST00000263331.5	+	15	3587	c.3007C>G	c.(3007-3009)Cgc>Ggc	p.R1003G	POLR1B_ENST00000417433.2_Missense_Mutation_p.R947G|POLR1B_ENST00000541869.1_Missense_Mutation_p.R1041G|POLR1B_ENST00000409894.3_Missense_Mutation_p.R820G|POLR1B_ENST00000537335.1_Missense_Mutation_p.R792G	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1003					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCAGCGCTTACGCCATATGGT	0.478																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3007-3009)Cgc>Ggc		polymerase (RNA) I polypeptide B, 128kDa							80.0	84.0	83.0					2																	113332905		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332905C>G	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3007C>G	2.37:g.113332905C>G	ENSP00000263331:p.Arg1003Gly					POLR1B_ENST00000409894.3_Missense_Mutation_p.R820G|POLR1B_ENST00000541869.1_Missense_Mutation_p.R1041G|POLR1B_ENST00000417433.2_Missense_Mutation_p.R947G|POLR1B_ENST00000537335.1_Missense_Mutation_p.R792G	p.R1003G	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3587	+			1003					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.3007C>G	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804660	0.70682	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.59	5.59	0.84812	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.046856	0.85682	D	0.000000	D	0.85544	0.5721	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.994;0.999;1.0	D	0.87628	0.2514	10	0.87932	D	0	-21.6651	13.9537	0.64135	0.1524:0.8476:0.0:0.0	.	1041;820;947;1003	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	G	1003;1041;820;792;947;362	ENSP00000263331:R1003G;ENSP00000444136:R1041G;ENSP00000387143:R820G;ENSP00000437914:R792G;ENSP00000405358:R947G	ENSP00000263331:R1003G	R	+	1	0	POLR1B	113049376	1.000000	0.71417	0.925000	0.36789	0.857000	0.48899	5.630000	0.67805	2.622000	0.88805	0.563000	0.77884	CGC		0.478	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		18	40	0	0	0	1	0	18	40				
OR1Q1	158131	broad.mit.edu	37	9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T	rs544593447		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr9:125377695C>T	ENST00000297913.2	+	1	748	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	227					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20910	0.0		0.0	False		,,,				2504	0.001					ENST00000297913.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(679-681)Cgg>Tgg		olfactory receptor, family 1, subfamily Q, member 1							119.0	116.0	117.0					9																	125377695		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377695C>T		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.679C>T	9.37:g.125377695C>T	ENSP00000297913:p.Arg227Trp					RP11-64P14.7_ENST00000431442.1_RNA	p.R227W	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	748	+			227					Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.679C>T	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492667	0.26774	.	.	ENSG00000165202	ENST00000297913	T	0.00269	8.37	5.57	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	1.273640	0.05577	N	0.572082	T	0.00384	0.0012	H	0.94658	3.565	0.09310	N	1	B	0.27140	0.169	B	0.23419	0.046	T	0.46162	-0.9211	10	0.87932	D	0	-4.7971	10.9065	0.47084	0.7161:0.2116:0.0:0.0723	.	227	Q15612	OR1Q1_HUMAN	W	227	ENSP00000297913:R227W	ENSP00000297913:R227W	R	+	1	2	OR1Q1	124417516	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	-0.929000	0.03976	-0.081000	0.12662	0.650000	0.86243	CGG		0.537	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			10	129	0	0	0	1	0	10	129				
TRPV4	59341	broad.mit.edu	37	12	110230500	110230500	+	Missense_Mutation	SNP	C	C	T	rs77975504		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:110230500C>T	ENST00000418703.2	-	10	1875	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	TRPV4_ENST00000541794.1_Missense_Mutation_p.R547H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R560H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R487H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R534H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	594			R -> H (in SMDK and PSTD). {ECO:0000269|PubMed:19232556, ECO:0000269|PubMed:20503319, ECO:0000269|PubMed:20577006}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTTCAGCCCACGGGTGAAGTA	0.592																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1780-1782)cGt>cAt		transient receptor potential cation channel, subfamily V, member 4							91.0	73.0	80.0					12																	110230500		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230500C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1781G>A	12.37:g.110230500C>T	ENSP00000406191:p.Arg594His					TRPV4_ENST00000544971.1_Missense_Mutation_p.R487H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R560H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R547H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R534H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594H	p.R594H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			10	1875	-			594		R -> H (in SMDK and PSTD).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1781G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498952	0.96355	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	M	0.90082	3.085	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.998	D	0.95169	0.8288	9	0.87932	D	0	-6.0622	19.6125	0.95613	0.0:1.0:0.0:0.0	.	534;594;487;547;560	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	H	594;594;547;534;487;534;547;560	ENSP00000406191:R594H;ENSP00000261740:R594H;ENSP00000376480:R547H;ENSP00000319003:R534H;ENSP00000443611:R487H;ENSP00000442738:R534H;ENSP00000442167:R547H;ENSP00000444336:R560H	ENSP00000261740:R594H	R	-	2	0	TRPV4	108714883	1.000000	0.71417	0.600000	0.28864	0.982000	0.71751	7.818000	0.86416	2.879000	0.98667	0.650000	0.86243	CGT		0.592	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		3	60	0	0	0	1	0	3	60				
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		44	Substitution - Missense(44)	p.N345K(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1033-1035)aaT>aaA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							67.0	66.0	66.0					3																	178921553		1807	4074	5881	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921553T>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N345K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1192	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		345					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1035T>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	62	0	0	0	1	0	6	62				
LRG1	116844	broad.mit.edu	37	19	4538288	4538288	+	Silent	SNP	C	C	T	rs200554386		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:4538288C>T	ENST00000306390.6	-	2	1168	c.708G>A	c.(706-708)ccG>ccA	p.P236P	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	236					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCAGGTCCGGCTGCGGCA	0.587																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(706-708)ccG>ccA		leucine-rich alpha-2-glycoprotein 1							204.0	221.0	215.0					19																	4538288		2203	4300	6503	SO:0001819	synonymous_variant	116844					extracellular region|membrane		g.chr19:4538288C>T		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.708G>A	19.37:g.4538288C>T						CTB-50L17.14_ENST00000586020.1_Intron	p.P236P	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1168	-		Hepatocellular(1079;0.137)	236					Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	c.708G>A	CCDS12130.1																																																																																				0.587	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		43	418	0	0	0	1	0	43	418				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR380_ENST00000362112.2_RNA|MIR299_ENST00000385016.2_RNA|MIR329-1_ENST00000385028.1_RNA|MIR758_ENST00000390227.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR1197_ENST00000408818.1_RNA|MIR329-2_ENST00000385029.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		4	129	0	0	0	1	0	4	129				
SIRPB1	10326	broad.mit.edu	37	20	1592215	1592215	+	Intron	SNP	C	C	G	rs41289057	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:1592215C>G	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Missense_Mutation_p.G74A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAATTCCCGGCCTGGTCCAGC	0.522													c|||	3213	0.641573	0.7254	0.5029	5008	,	,		7138	0.7351		0.4781	False		,,,				2504	0.6984					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(220-222)gGc>gCc		signal-regulatory protein beta 1							66.0	79.0	75.0					20																	1592215		452	1342	1794	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592215C>G	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8299G>C	20.37:g.1592215C>G						SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron	p.G74A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	285	-			74			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.221G>C	CCDS13019.1	821	0.3759157509157509	204	0.4146341463414634	117	0.32320441988950277	293	0.5122377622377622	207	0.27308707124010556	.	5.490	0.275498	0.10403	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.66995	-0.24	2.75	-5.49	0.02584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.52905	1.665	0.80722	P	0.0	B	0.09022	0.002	B	0.13407	0.009	T	0.35151	-0.9800	8	0.36615	T	0.2	.	9.7994	0.40755	0.0:0.6565:0.0:0.3435	rs41289057	74	Q5TFQ8	SIRBL_HUMAN	A	74	ENSP00000279477:G74A	ENSP00000279477:G74A	G	-	2	0	SIRPB1	1540215	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.679000	0.01940	-1.538000	0.01734	-0.474000	0.04947	GGC		0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		6	31	0	0	0	1	0	6	31				
SH2D3C	10044	broad.mit.edu	37	9	130507135	130507135	+	Missense_Mutation	SNP	C	C	T	rs200786276	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr9:130507135C>T	ENST00000314830.8	-	7	1621	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R149H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R435H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R346H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R345H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R343H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	503					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCGGCTGCCACGCACGGGAGG	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		14991	0.002		0.0	False		,,,				2504	0.0					ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1507-1509)cGt>cAt		SH2 domain containing 3C							92.0	102.0	98.0					9																	130507135		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507135C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1508G>A	9.37:g.130507135C>T	ENSP00000317817:p.Arg503His					SH2D3C_ENST00000373277.4_Missense_Mutation_p.R346H|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R149H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R345H|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R343H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R435H	p.R503H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1621	-			503					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1508G>A	CCDS6877.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.372707	0.42003	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.5	1.41	0.22369	.	0.347798	0.31949	N	0.006803	T	0.29491	0.0735	L	0.36672	1.1	0.09310	N	1	P;D;D;P;D	0.60160	0.923;0.968;0.987;0.939;0.969	B;B;B;B;B	0.44085	0.183;0.27;0.361;0.44;0.34	T	0.17471	-1.0368	10	0.56958	D	0.05	-23.3977	4.8962	0.13751	0.0:0.4988:0.2329:0.2683	.	343;503;435;346;345	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	H	346;345;435;343;149;503	ENSP00000362374:R346H;ENSP00000388536:R345H;ENSP00000362373:R435H;ENSP00000362371:R343H;ENSP00000394632:R149H;ENSP00000317817:R503H	ENSP00000317817:R503H	R	-	2	0	SH2D3C	129546956	0.328000	0.24687	0.011000	0.14972	0.962000	0.63368	1.511000	0.35801	0.295000	0.22570	0.462000	0.41574	CGT		0.642	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		6	266	0	0	0	1	0	6	266				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		3	30	0	0	0	1	0	3	30				
KIAA1211	57482	broad.mit.edu	37	4	57181439	57181439	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:57181439G>T	ENST00000504228.1	+	6	1876	c.1771G>T	c.(1771-1773)Gtt>Ttt	p.V591F	KIAA1211_ENST00000541073.1_Missense_Mutation_p.V584F|KIAA1211_ENST00000264229.6_Missense_Mutation_p.V591F			Q6ZU35	K1211_HUMAN	KIAA1211	591										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTCCCTGAGCGTTCCCCACAC	0.672																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1771-1773)Gtt>Ttt		KIAA1211							17.0	23.0	21.0					4																	57181439		2055	4188	6243	SO:0001583	missense	57482							g.chr4:57181439G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1771G>T	4.37:g.57181439G>T	ENSP00000423366:p.Val591Phe					KIAA1211_ENST00000541073.1_Missense_Mutation_p.V584F|KIAA1211_ENST00000264229.6_Missense_Mutation_p.V591F	p.V591F			Q6ZU35	K1211_HUMAN			6	1876	+	Glioma(25;0.08)|all_neural(26;0.101)		591					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1771G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.128125	0.56721	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02280	4.36;4.36;4.36	5.01	-6.14	0.02111	.	.	.	.	.	T	0.07683	0.0193	L	0.50333	1.59	0.43885	D	0.996507	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.76071	0.979;0.987;0.943	T	0.00104	-1.2058	9	0.87932	D	0	-5.4906	17.0358	0.86474	0.216:0.0:0.784:0.0	.	584;584;591	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	F	591;591;584;501	ENSP00000264229:V591F;ENSP00000423366:V591F;ENSP00000444006:V584F	ENSP00000264229:V591F	V	+	1	0	KIAA1211	56876196	1.000000	0.71417	0.748000	0.31131	0.375000	0.29983	2.371000	0.44248	-1.293000	0.02362	-0.258000	0.10820	GTT		0.672	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		12	19	1	0	0.0135373	1	0.0135373	12	19				
GRIA1	2890	broad.mit.edu	37	5	153144140	153144140	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:153144140C>A	ENST00000285900.5	+	12	2313	c.1970C>A	c.(1969-1971)aCa>aAa	p.T657K	GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	657					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCGAAGCAGACAGAAATTGCC	0.502																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1969-1971)aCa>aAa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						115.0	95.0	102.0					5																	153144140		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153144140C>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1970C>A	5.37:g.153144140C>A	ENSP00000285900:p.Thr657Lys					GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K|GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K	p.T657K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2313	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	657					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1970C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018311	0.93404	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.27	5.27	0.74061	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.62016	1.91	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.964;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.999;0.769;0.998;0.987	T	0.66618	-0.5878	10	0.87932	D	0	.	17.8573	0.88769	0.0:1.0:0.0:0.0	.	667;667;577;657;657	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	K	657;657;577;611;657;590;588;667;667	ENSP00000285900:T657K;ENSP00000427920:T577K;ENSP00000339343:T657K;ENSP00000427864:T590K;ENSP00000442108:T588K;ENSP00000428994:T667K;ENSP00000415569:T667K	ENSP00000285900:T657K	T	+	2	0	GRIA1	153124333	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.642000	0.83385	2.447000	0.82792	0.561000	0.74099	ACA		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			13	39	1	0	2.61681e-11	1	2.73759e-11	13	39				
SLC26A1	10861	broad.mit.edu	37	4	985025	985025	+	Missense_Mutation	SNP	C	C	T	rs377629899		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:985025C>T	ENST00000361661.2	-	3	844	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	156					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTTGGCTCCGGGCTGCAG	0.687																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(466-468)gGa>gAa		solute carrier family 26 (anion exchanger), member 1		C	,GLU/GLY,GLU/GLY,GLU/GLY	1,4399		0,1,2199	33.0	35.0	34.0		,467,467,467	-1.4	0.0	4		34	0,8590		0,0,4295	no	intron,missense,missense,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,98,98,98	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,benign,benign,benign	,156/702,156/225,156/702	985025	1,12989	2200	4295	6495	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:985025C>T	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.467G>A	4.37:g.985025C>T	ENSP00000354721:p.Gly156Glu					IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E	p.G156E	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		3	844	-			156					A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.467G>A	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309454	0.40895	2.27E-4	0.0	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.93426	-3.05;-3.22;-3.22	5.44	-1.42	0.08913	.	1.192680	0.05865	N	0.623684	T	0.81039	0.4740	N	0.03608	-0.345	0.09310	N	1	B;B	0.29936	0.002;0.262	B;B	0.26202	0.007;0.067	T	0.72623	-0.4237	10	0.34782	T	0.22	.	4.5599	0.12154	0.1158:0.2814:0.4546:0.1482	.	156;156	Q9H2B4;Q96BK0	S26A1_HUMAN;.	E	156	ENSP00000381532:G156E;ENSP00000354721:G156E;ENSP00000381528:G156E	ENSP00000354721:G156E	G	-	2	0	SLC26A1	975025	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.496000	0.06436	-0.031000	0.13781	0.462000	0.41574	GGA		0.687	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		23	32	0	0	0	1	0	23	32				
LMO2	4005	broad.mit.edu	37	11	33886237	33886237	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:33886237G>A	ENST00000395833.3	-	2	597	c.168C>T	c.(166-168)agC>agT	p.S56S	LMO2_ENST00000257818.2_Silent_p.S125S	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	56	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						AGAGGTCGCAGCTCAGGCAGT	0.647			T	TRD@	T-ALL																																	ENST00000257818.2				Dom	yes		11	11p13	4005	T	LIM domain only 2 (rhombotin-like 1) (RBTN2)			L	TRD@		T-ALL		0				NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(373-375)agC>agT		LIM domain only 2 (rhombotin-like 1)							49.0	43.0	45.0					11																	33886237		2202	4298	6500	SO:0001819	synonymous_variant	4005				multicellular organismal development	nucleus	protein binding|zinc ion binding	g.chr11:33886237G>A	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.168C>T	11.37:g.33886237G>A						LMO2_ENST00000395833.3_Silent_p.S56S	p.S125S	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN			5	1204	-			56			LIM zinc-binding 2.		Q9HD58	Silent	SNP	ENST00000395833.3	37	c.375C>T	CCDS44567.1																																																																																				0.647	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574		3	73	0	0	0	1	0	3	73				
HOXD10	3236	broad.mit.edu	37	2	176981857	176981857	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:176981857C>T	ENST00000249501.4	+	1	551	c.296C>T	c.(295-297)cCc>cTc	p.P99L	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	99					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGCAAGTCCCCACTTGCTCC	0.448																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(295-297)cCc>cTc		homeobox D10							112.0	114.0	113.0					2																	176981857		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176981857C>T		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.296C>T	2.37:g.176981857C>T	ENSP00000249501:p.Pro99Leu					HOXD10_ENST00000490088.2_Intron	p.P99L	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	551	+			99					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.296C>T	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793911	0.50102	.	.	ENSG00000128710	ENST00000249501	T	0.37915	1.17	5.73	5.73	0.89815	.	0.103857	0.64402	D	0.000002	T	0.45538	0.1347	M	0.84846	2.72	0.80722	D	1	P	0.39022	0.655	B	0.32533	0.147	T	0.55029	-0.8204	10	0.52906	T	0.07	.	19.4898	0.95046	0.0:1.0:0.0:0.0	.	99	P28358	HXD10_HUMAN	L	99	ENSP00000249501:P99L	ENSP00000249501:P99L	P	+	2	0	HOXD10	176690103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.699000	0.92147	0.655000	0.94253	CCC		0.448	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			36	65	0	0	0	1	0	36	65				
OR5H6	79295	broad.mit.edu	37	3	97984008	97984008	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:97984008T>C	ENST00000383696.2	+	1	921	c.880T>C	c.(880-882)Tac>Cac	p.Y294H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCTCTATTTTACACTGTCAT	0.378																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(880-882)Tac>Cac		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							65.0	63.0	64.0					3																	97984008		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97984008T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.880T>C	3.37:g.97984008T>C	ENSP00000373196:p.Tyr294His					RP11-325B23.2_ENST00000508616.1_lincRNA	p.Y294H	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	921	+			294					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.880T>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	16.07	3.019799	0.54576	.	.	ENSG00000230301	ENST00000383696	T	0.00321	8.11	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000649	T	0.00754	0.0025	M	0.92367	3.3	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24905	-1.0147	10	0.87932	D	0	.	7.9658	0.30098	0.0:0.0:0.0:1.0	.	294	Q8NGV6	OR5H6_HUMAN	H	294	ENSP00000373196:Y294H	ENSP00000373196:Y294H	Y	+	1	0	OR5H6	99466698	0.457000	0.25752	0.953000	0.39169	0.582000	0.36321	1.817000	0.39002	1.006000	0.39211	0.163000	0.16589	TAC		0.378	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			16	35	0	0	0	1	0	16	35				
KRT5	3852	broad.mit.edu	37	12	52912785	52912785	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:52912785G>A	ENST00000252242.4	-	2	1105	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	239	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGTCCAGGCGGCCCCGTTCC	0.587																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(715-717)Cgc>Tgc		keratin 5							183.0	166.0	172.0					12																	52912785		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52912785G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.715C>T	12.37:g.52912785G>A	ENSP00000252242:p.Arg239Cys						p.R239C	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	1105	-			239			Coil 1B.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.715C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712780	0.30413	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420	D;D	0.90676	-2.71;-2.71	5.31	4.41	0.53225	Filament (1);	0.000000	0.52532	D	0.000067	D	0.90981	0.7164	M	0.87180	2.865	0.53005	D	0.999967	P	0.42649	0.786	B	0.36378	0.223	D	0.92238	0.5798	10	0.87932	D	0	.	15.6638	0.77209	0.0:0.0:0.8624:0.1376	.	239	P13647	K2C5_HUMAN	C	239;204;129	ENSP00000252242:R239C;ENSP00000447209:R129C	ENSP00000252242:R239C	R	-	1	0	KRT5	51199052	0.993000	0.37304	0.999000	0.59377	0.663000	0.39108	2.165000	0.42396	1.449000	0.47699	0.655000	0.94253	CGC		0.587	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			6	272	0	0	0	1	0	6	272				
EHD1	10938	broad.mit.edu	37	11	64622147	64622147	+	Silent	SNP	C	C	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:64622147C>T	ENST00000320631.3	-	5	1517	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.P421P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	421					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGTGCCCGAACGGCCCGTTCA	0.667																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1261-1263)ccG>ccA		EH-domain containing 1							116.0	106.0	109.0					11																	64622147		2201	4296	6497	SO:0001819	synonymous_variant	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622147C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1263G>A	11.37:g.64622147C>T						EHD1_ENST00000359393.2_Silent_p.P421P|EHD1_ENST00000488711.1_5'UTR	p.P421P	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1517	-			421					O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.1263G>A	CCDS8084.1																																																																																				0.667	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		13	147	0	0	0	1	0	13	147				
TXNRD1	7296	broad.mit.edu	37	12	104742131	104742131	+	Splice_Site	SNP	G	G	T			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:104742131G>T	ENST00000529546.1	+	14	1543	c.1318G>T	c.(1318-1320)Gta>Tta	p.V440L	TXNRD1_ENST00000526390.1_Splice_Site_p.V522L|TXNRD1_ENST00000542918.1_Splice_Site_p.V528L|TXNRD1_ENST00000388854.3_Splice_Site_p.V530L|TXNRD1_ENST00000526950.1_Splice_Site_p.V547L|TXNRD1_ENST00000397736.2_Splice_Site_p.V522L|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000429002.2_Splice_Site_p.V628L|TXNRD1_ENST00000525566.1_Splice_Site_p.V628L|TXNRD1_ENST00000524698.1_Splice_Site_p.V478L|TXNRD1_ENST00000526691.1_Splice_Site_p.V530L|TXNRD1_ENST00000354940.6_Splice_Site_p.V478L|TXNRD1_ENST00000427956.1_Splice_Site_p.V593L|TXNRD1_ENST00000503506.2_Splice_Site_p.V478L|TXNRD1_ENST00000540716.1_Splice_Site_p.V440L			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	628					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TCCCCTGCAGGTATTCACAAC	0.498																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.e15-1		thioredoxin reductase 1							154.0	147.0	149.0					12																	104742131		1971	4167	6138	SO:0001630	splice_region_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104742131G>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1318-1G>T	12.37:g.104742131G>T						TXNRD1_ENST00000542918.1_Splice_Site_p.V528_splice|TXNRD1_ENST00000540716.1_Splice_Site_p.V440_splice|TXNRD1_ENST00000397736.2_Splice_Site_p.V522_splice|TXNRD1_ENST00000524698.1_Splice_Site_p.V478_splice|TXNRD1_ENST00000427956.1_Splice_Site_p.V593_splice|TXNRD1_ENST00000526390.1_Splice_Site_p.V522_splice|TXNRD1_ENST00000429002.2_Splice_Site_p.V628_splice|TXNRD1_ENST00000525566.1_Splice_Site_p.V628_splice|TXNRD1_ENST00000526950.1_Splice_Site_p.V547_splice|TXNRD1_ENST00000354940.6_Splice_Site_p.V478_splice|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000503506.2_Splice_Site_p.V478_splice|TXNRD1_ENST00000388854.3_Splice_Site_p.V530_splice|TXNRD1_ENST00000529546.1_Splice_Site_p.V440_splice	p.V530_splice	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			15	2044	+			628					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Splice_Site	SNP	ENST00000529546.1	37	c.1587_splice	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924431	0.34002	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000397736;ENST00000427956;ENST00000526950	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.66	1.22	0.21188	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	.	.	.	.	D	0.87334	0.6151	L	0.52573	1.65	0.33885	D	0.636564	B;B;B;B;B;B;B	0.10296	0.001;0.0;0.003;0.0;0.0;0.002;0.0	B;B;B;B;B;B;B	0.10450	0.003;0.002;0.005;0.001;0.001;0.005;0.003	T	0.80832	-0.1206	8	.	.	.	-0.7546	8.9724	0.35915	0.5089:0.0:0.4911:0.0	.	528;522;628;530;478;628;593	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	L	628;628;478;530;530;478;522;440;440;478;528;522;593;547	ENSP00000434516:V628L;ENSP00000412045:V628L;ENSP00000421934:V478L;ENSP00000435929:V530L;ENSP00000373506:V530L;ENSP00000347020:V478L;ENSP00000435123:V522L;ENSP00000434919:V440L;ENSP00000442709:V440L;ENSP00000433425:V478L;ENSP00000440978:V528L;ENSP00000380844:V522L;ENSP00000393328:V593L;ENSP00000432812:V547L	.	V	+	1	0	TXNRD1	103266261	1.000000	0.71417	0.721000	0.30653	0.840000	0.47671	1.008000	0.29872	0.173000	0.19788	0.650000	0.86243	GTA		0.498	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	Missense_Mutation	63	119	1	0	3.54697e-40	1	3.82847e-40	63	119				
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33.0	35.0	34.0					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		3	55	0	0	0	1	0	3	55				
ZNF91	7644	broad.mit.edu	37	19	23543401	23543401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:23543401C>A	ENST00000300619.7	-	4	2585	c.2380G>T	c.(2380-2382)Gga>Tga	p.G794*	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.G762*|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	794					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGCTTCTCTCCAGTGTGTATC	0.383																																						ENST00000300619.7																			0											c.(2380-2382)Gga>Tga		zinc finger protein 91							56.0	61.0	59.0					19																	23543401		2163	4277	6440	SO:0001587	stop_gained	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543401C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2380G>T	19.37:g.23543401C>A	ENSP00000300619:p.Gly794*					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.G762*	p.G794*	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2585	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	794					A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	ENST00000300619.7	37	c.2380G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696499	0.88830	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.2055	0.15289	0.0:0.803:0.0:0.197	.	.	.	.	X	794;762	.	ENSP00000300619:G794X	G	-	1	0	ZNF91	23335241	0.019000	0.18553	0.133000	0.22050	0.037000	0.13140	1.365000	0.34182	0.798000	0.33994	0.205000	0.17691	GGA		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		22	60	1	0	7.38237e-10	1	7.60608e-10	22	60				
TMEM145	284339	broad.mit.edu	37	19	42820687	42820687	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:42820687T>C	ENST00000301204.3	+	9	742	c.701T>C	c.(700-702)aTt>aCt	p.I234T	TMEM145_ENST00000598766.1_Missense_Mutation_p.I258T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	234					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACCGATGGCATTGGCAACGAG	0.552																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(772-774)aTt>aCt		transmembrane protein 145							152.0	134.0	140.0					19																	42820687		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42820687T>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.701T>C	19.37:g.42820687T>C	ENSP00000301204:p.Ile234Thr					TMEM145_ENST00000301204.3_Missense_Mutation_p.I234T	p.I258T			Q8NBT3	TM145_HUMAN			9	773	+		Prostate(69;0.00682)	234						Missense_Mutation	SNP	ENST00000301204.3	37	c.773T>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504599	0.44558	.	.	ENSG00000167619	ENST00000301204	T	0.46063	0.88	3.93	3.93	0.45458	Rhodopsin-like GPCR transmembrane domain (1);	0.085889	0.47455	D	0.000240	T	0.32971	0.0847	L	0.46157	1.445	0.46113	D	0.99887	B	0.21606	0.058	B	0.24269	0.052	T	0.08229	-1.0732	10	0.11485	T	0.65	-5.0611	11.0586	0.47933	0.0:0.0:0.0:1.0	.	234	Q8NBT3	TM145_HUMAN	T	234	ENSP00000301204:I234T	ENSP00000301204:I234T	I	+	2	0	TMEM145	47512527	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.581000	0.60949	1.568000	0.49683	0.374000	0.22700	ATT		0.552	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		11	81	0	0	0	1	0	11	81				
SYNC	81493	broad.mit.edu	37	1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C	rs201938976	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:33149862T>C	ENST00000409190.3	-	3	1813	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Missense_Mutation_p.Y452C	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433													T|||	4	0.000798722	0.003	0.0	5008	,	,		18566	0.0		0.0	False		,,,				2504	0.0					ENST00000373484.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1354-1356)tAt>tGt		syncoilin, intermediate filament protein							263.0	266.0	265.0					1																	33149862		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149862T>C	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1355A>G	1.37:g.33149862T>C	ENSP00000386439:p.Tyr452Cys					RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C	p.Y452C	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN			3	1454	-			452			Coil 2.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1355A>G	CCDS367.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	18.01	3.528145	0.64860	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.97186	-4.28;-4.28	5.71	4.57	0.56435	Filament (1);	0.167577	0.40469	N	0.001087	D	0.96374	0.8817	N	0.19112	0.55	0.47037	D	0.999297	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96484	0.9358	10	0.87932	D	0	.	11.4698	0.50261	0.1418:0.0:0.0:0.8582	.	452;452	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	C	452	ENSP00000362583:Y452C;ENSP00000386439:Y452C	ENSP00000362583:Y452C	Y	-	2	0	SYNC	32922449	1.000000	0.71417	0.861000	0.33841	0.899000	0.52679	2.770000	0.47662	1.079000	0.41038	0.459000	0.35465	TAT		0.433	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		133	186	0	0	0	1	0	133	186				
CYFIP1	23191	broad.mit.edu	37	15	22945111	22945111	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:22945111G>A	ENST00000313077.7	+	12	1307	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	CYFIP1_ENST00000560848.1_Silent_p.A394A	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGACCTGGCGCTGCAGGGCC	0.706																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1180-1182)gcG>gcA		cytoplasmic FMR1 interacting protein 1							18.0	19.0	19.0					15																	22945111		2201	4297	6498	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22945111G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1182G>A	15.37:g.22945111G>A						CYFIP1_ENST00000560848.1_Silent_p.A394A	p.A394A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	12	1307	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	394						Silent	SNP	ENST00000313077.7	37	c.1182G>A	CCDS10009.1																																																																																				0.706	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		11	16	0	0	0	1	0	11	16				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	53	0	0	0	1	0	4	53				
ADCY4	196883	broad.mit.edu	37	14	24789053	24789053	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr14:24789053G>A	ENST00000310677.4	-	22	2741	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F	ADCY4_ENST00000554068.2_Silent_p.F876F|ADCY4_ENST00000418030.2_Silent_p.F876F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	876					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGACTGAGGCGAAGAGGACAC	0.498																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2626-2628)ttC>ttT		adenylate cyclase 4							99.0	86.0	90.0					14																	24789053		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24789053G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2628C>T	14.37:g.24789053G>A						ADCY4_ENST00000418030.2_Silent_p.F876F|ADCY4_ENST00000554068.2_Silent_p.F876F	p.F876F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	22	2741	-			876					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2628C>T	CCDS9627.1																																																																																				0.498	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			27	64	0	0	0	1	0	27	64				
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ACCAGCGGCTTGTAGTACACA	0.627																																						ENST00000330048.5																			0																																																			0							g.chr16:32890639T>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890639T>C								NR_003083.2						0	3159	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	67	0	0	0	1	0	4	67				
ZNF280B	140883	broad.mit.edu	37	22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:22842418A>G	ENST00000406426.1	-	4	2048	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000360412.2_Missense_Mutation_p.F436L			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(1306-1308)Ttt>Ctt		zinc finger protein 280B							110.0	105.0	107.0					22																	22842418		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842418A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1306T>C	22.37:g.22842418A>G	ENSP00000385998:p.Phe436Leu					ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	2081	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	436						Missense_Mutation	SNP	ENST00000406426.1	37	c.1306T>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754591	0.69648	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.58940	0.3;0.3	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.48333	0.1494	L	0.35487	1.065	0.42761	D	0.993803	P	0.35612	0.512	B	0.36989	0.238	T	0.53330	-0.8454	9	0.52906	T	0.07	-16.5218	12.726	0.57170	1.0:0.0:0.0:0.0	.	436	Q86YH2	Z280B_HUMAN	L	436	ENSP00000385998:F436L;ENSP00000353586:F436L	ENSP00000353586:F436L	F	-	1	0	ZNF280B	21172418	1.000000	0.71417	0.920000	0.36463	0.980000	0.70556	8.122000	0.89584	2.172000	0.68678	0.533000	0.62120	TTT		0.428	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		3	109	0	0	0	1	0	3	109				
ZNF546	339327	broad.mit.edu	37	19	40520472	40520472	+	Missense_Mutation	SNP	G	G	A	rs199852460		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:40520472G>A	ENST00000347077.4	+	7	1511	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R406H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCTCGACATCGTAGAATTCAT	0.388																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1294-1296)cGt>cAt		zinc finger protein 546							48.0	51.0	50.0					19																	40520472		2203	4299	6502	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520472G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1295G>A	19.37:g.40520472G>A	ENSP00000339823:p.Arg432His					ZNF546_ENST00000600094.1_Missense_Mutation_p.R406H|ZNF546_ENST00000596894.1_Intron	p.R432H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	1511	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		432					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1295G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	8.172	0.791803	0.16258	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07688	3.17	2.69	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06508	0.0167	L	0.31120	0.905	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.0	T	0.36648	-0.9739	9	0.49607	T	0.09	.	6.2676	0.20936	0.7535:0.0:0.2465:0.0	.	406;432	B3KVL3;Q86UE3	.;ZN546_HUMAN	H	432;69	ENSP00000339823:R432H	ENSP00000339823:R432H	R	+	2	0	ZNF546	45212312	0.000000	0.05858	0.619000	0.29118	0.984000	0.73092	-0.310000	0.08135	0.007000	0.14760	-0.254000	0.11334	CGT		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		16	9	0	0	0	1	0	16	9				
TRIML1	339976	broad.mit.edu	37	4	189060921	189060921	+	Missense_Mutation	SNP	G	G	A	rs112281664	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:189060921G>A	ENST00000332517.3	+	1	349	c.209G>A	c.(208-210)cGt>cAt	p.R70H	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	70					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCAAACGAGCGTCTGGGGAGG	0.617													G|||	7	0.00139776	0.0008	0.0014	5008	,	,		17900	0.004		0.0	False		,,,				2504	0.001				Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(208-210)cGt>cAt		tripartite motif family-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	63.0	62.0		209	3.8	0.7	4	dbSNP_132	62	0,8600		0,0,4300	no	missense	TRIML1	NM_178556.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	70/469	189060921	1,13005	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060921G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.209G>A	4.37:g.189060921G>A	ENSP00000327738:p.Arg70His						p.R70H	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	349	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	70					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.209G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102479	0.37145	2.27E-4	0.0	ENSG00000184108	ENST00000332517	D	0.84370	-1.84	5.59	3.85	0.44370	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.53938	D	0.000058	T	0.79661	0.4484	M	0.66939	2.045	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.61589	-0.7032	10	0.13853	T	0.58	-18.3723	7.7439	0.28858	0.0831:0.0:0.7567:0.1602	.	70	Q8N9V2	TRIML_HUMAN	H	70	ENSP00000327738:R70H	ENSP00000327738:R70H	R	+	2	0	TRIML1	189297915	0.001000	0.12720	0.680000	0.29994	0.000000	0.00434	1.064000	0.30579	0.822000	0.34565	-0.181000	0.13052	CGT		0.617	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		43	59	0	0	0	1	0	43	59				
RECQL5	9400	broad.mit.edu	37	17	73627271	73627271	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:73627271C>G	ENST00000317905.5	-	10	1666	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	503	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTTCCACTCCCGCTTGTGG	0.647								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1507-1509)Gag>Cag	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							57.0	64.0	62.0					17																	73627271		2201	4295	6496	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627271C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1507G>C	17.37:g.73627271C>G	ENSP00000317636:p.Glu503Gln					RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q|RECQL5_ENST00000443199.2_5'UTR	p.E503Q	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		10	1666	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		503					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1507G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814498	0.50527	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T;T	0.60672	0.17;0.2	5.69	5.69	0.88448	.	0.209149	0.42964	D	0.000635	T	0.68229	0.2978	M	0.66939	2.045	0.80722	D	1	P;P	0.51537	0.946;0.908	P;P	0.52031	0.688;0.596	T	0.66544	-0.5897	10	0.38643	T	0.18	-18.2244	18.7929	0.91982	0.0:1.0:0.0:0.0	.	503;476	O94762;Q6P4G0	RECQ5_HUMAN;.	Q	98;503;503	ENSP00000394820:E503Q;ENSP00000317636:E503Q	ENSP00000317636:E503Q	E	-	1	0	RECQL5	71138866	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.027000	0.57239	2.692000	0.91855	0.563000	0.77884	GAG		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		43	71	0	0	0	1	0	43	71				
KCNJ4	3761	broad.mit.edu	37	22	38822859	38822859	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:38822859G>A	ENST00000303592.3	-	2	1537	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	427					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCCTGCATGCGCTCCAGGTCC	0.692																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1279-1281)Cgc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 4							66.0	74.0	71.0					22																	38822859		2201	4300	6501	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38822859G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1279C>T	22.37:g.38822859G>A	ENSP00000306497:p.Arg427Cys					RP3-434P1.6_ENST00000433230.1_RNA	p.R427C	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	1537	-	Melanoma(58;0.0286)		427					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.1279C>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419745	0.62622	.	.	ENSG00000168135	ENST00000303592	D	0.90504	-2.68	4.48	3.39	0.38822	.	0.947029	0.08717	U	0.904125	D	0.90762	0.7100	L	0.32530	0.975	0.51767	D	0.999934	D	0.89917	1.0	P	0.54706	0.759	D	0.88171	0.2864	10	0.56958	D	0.05	.	14.3955	0.67007	0.0:0.0:0.8524:0.1476	.	427	P48050	IRK4_HUMAN	C	427	ENSP00000306497:R427C	ENSP00000306497:R427C	R	-	1	0	KCNJ4	37152805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.189000	0.58358	2.212000	0.71576	0.555000	0.69702	CGC		0.692	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		65	129	0	0	0	1	0	65	129				
MUC5B	727897	broad.mit.edu	37	11	1272259	1272259	+	Missense_Mutation	SNP	G	G	A	rs201216315	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:1272259G>A	ENST00000529681.1	+	31	14207	c.14149G>A	c.(14149-14151)Gca>Aca	p.A4717T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A4720T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4717	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		caccacacccgcagccaccag	0.612													a|||	3	0.000599042	0.0	0.0	5008	,	,		19348	0.003		0.0	False		,,,				2504	0.0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14158-14160)Gca>Aca		mucin 5B, oligomeric mucus/gel-forming																																				SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272259G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14149G>A	11.37:g.1272259G>A	ENSP00000436812:p.Ala4717Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4717T	p.A4720T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14216	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4717			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14158G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	2.223	-0.378008	0.05000	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.15487	2.42;2.6	1.37	-2.74	0.05932	.	.	.	.	.	T	0.05456	0.0144	N	0.03000	-0.44	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.30475	-0.9977	9	0.87932	D	0	.	0.9402	0.01354	0.3251:0.2839:0.2482:0.1428	.	4720	E9PBJ0	.	T	4717;4720;4661;490	ENSP00000436812:A4717T;ENSP00000415793:A4720T	ENSP00000343037:A4661T	A	+	1	0	MUC5B	1228835	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-5.968000	0.00088	-2.284000	0.00671	-2.831000	0.00106	GCA		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	88	0	0	0	1	0	3	88				
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G	rs538844201	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13350	0.0		0.0	False		,,,				2504	0.001					ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(67-69)ctC>ctG		HGF activator							13.0	16.0	15.0					4																	3443797		1723	3604	5327	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443797C>G	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.69C>G	4.37:g.3443797C>G						HGFAC_ENST00000511533.1_Silent_p.L23L	p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	184	+			23					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.69C>G	CCDS3369.1																																																																																				0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			3	54	0	0	0	1	0	3	54				
SMAD2	4087	broad.mit.edu	37	18	45368305	45368305	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr18:45368305T>C	ENST00000402690.2	-	11	1691	c.1297A>G	c.(1297-1299)Agt>Ggt	p.S433G	SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G|SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	433	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAAGGAGTACTTGTTACCGTC	0.413																																						ENST00000402690.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						c.(1297-1299)Agt>Ggt		SMAD family member 2							140.0	123.0	129.0					18																	45368305		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45368305T>C	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1297A>G	18.37:g.45368305T>C	ENSP00000384449:p.Ser433Gly					SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G|SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G	p.S433G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN			11	1691	-			433			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.1297A>G	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463748	0.84425	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97529	-4.42;-4.42;-4.42	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	M	0.83012	2.62	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66196	0.921;0.942	D	0.99372	1.0920	10	0.87932	D	0	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	403;433	Q15796-2;Q15796	.;SMAD2_HUMAN	G	433;403;433	ENSP00000262160:S433G;ENSP00000349282:S403G;ENSP00000384449:S433G	ENSP00000262160:S433G	S	-	1	0	SMAD2	43622303	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	AGT		0.413	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		18	10	0	0	0	1	0	18	10				
CACNB1	782	broad.mit.edu	37	17	37334247	37334247	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:37334247T>C	ENST00000394303.3	-	12	1343	c.1136A>G	c.(1135-1137)cAg>cGg	p.Q379R	RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	379					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGGGGCACTGTGCCAGCTT	0.542																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1135-1137)cAg>cGg		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						123.0	118.0	120.0					17																	37334247		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37334247T>C		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1136A>G	17.37:g.37334247T>C	ENSP00000377840:p.Gln379Arg					CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R|CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R	p.Q379R	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			12	1343	-			379					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.1136A>G	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116421	0.77323	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83506	-1.73;-1.73;-1.73	5.12	5.12	0.69794	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.062472	0.64402	D	0.000004	D	0.92368	0.7578	M	0.90922	3.16	0.80722	D	1	P;P;D	0.55800	0.921;0.686;0.973	P;P;D	0.70487	0.866;0.825;0.969	D	0.93889	0.7178	10	0.87932	D	0	-11.8605	14.0397	0.64667	0.0:0.0:0.0:1.0	.	424;379;379	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	R	329;379;424;379;330	ENSP00000377840:Q379R;ENSP00000345461:Q424R;ENSP00000377847:Q379R	ENSP00000345461:Q424R	Q	-	2	0	CACNB1	34587773	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	7.739000	0.84976	2.159000	0.67721	0.383000	0.25322	CAG		0.542	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			61	123	0	0	0	1	0	61	123				
UBE2V1	7335	broad.mit.edu	37	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:48699408G>A	ENST00000371674.3	-	4	385	c.341C>T	c.(340-342)tCa>tTa	p.S114L	UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|TMEM189_ENST00000557021.1_Missense_Mutation_p.S337L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	114					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			GATGCTATATGAATTCTGCCA	0.423																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(1009-1011)tCa>tTa		transmembrane protein 189							68.0	66.0	67.0					20																	48699408		2203	4298	6501	SO:0001583	missense	387521							g.chr20:48699408G>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.341C>T	20.37:g.48699408G>A	ENSP00000360739:p.Ser114Leu					UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000396059.3_5'UTR	p.S337L	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		8	1170	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	c.1010C>T	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956830	0.92726	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.35	5.35	0.76521	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44097	U	0.000487	T	0.30885	0.0779	L	0.61387	1.9	0.58432	D	0.999995	D;B;B;P	0.55800	0.973;0.348;0.348;0.628	P;P;P;P	0.54629	0.757;0.523;0.523;0.562	T	0.01762	-1.1279	10	0.72032	D	0.01	-0.3462	19.0759	0.93161	0.0:0.0:1.0:0.0	.	337;137;70;114	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	L	337;72;114;137;70;137;70;70;337	ENSP00000344166:S337L;ENSP00000360720:S72L;ENSP00000360739:S114L;ENSP00000340305:S137L;ENSP00000407770:S70L;ENSP00000360742:S137L;ENSP00000395264:S70L;ENSP00000450635:S337L	ENSP00000344166:S337L	S	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48132815	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.476000	0.97823	2.506000	0.84524	0.650000	0.86243	TCA		0.423	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		26	35	0	0	0	1	0	26	35				
ANO10	55129	broad.mit.edu	37	3	43618225	43618225	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:43618225T>C	ENST00000292246.3	-	6	1291	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	ANO10_ENST00000414522.2_Missense_Mutation_p.N374S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	374					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAGAGACGATTCATGATCTC	0.453																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(1120-1122)aAt>aGt		anoctamin 10							72.0	62.0	65.0					3																	43618225		2203	4300	6503	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43618225T>C	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1121A>G	3.37:g.43618225T>C	ENSP00000292246:p.Asn374Ser					ANO10_ENST00000350459.4_Intron|ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000414522.2_Missense_Mutation_p.N374S	p.N374S	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			6	1291	-			374					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.1121A>G	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007962	0.75046	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.68705	0.3030	L	0.49699	1.58	0.58432	D	0.999996	P;P;B;P	0.40083	0.702;0.623;0.383;0.623	P;P;B;P	0.52646	0.551;0.587;0.321;0.705	T	0.62964	-0.6742	10	0.18710	T	0.47	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	263;374;308;374	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	S	374;308;374;263	ENSP00000292246:N374S;ENSP00000379398:N308S;ENSP00000396990:N374S;ENSP00000394119:N263S	ENSP00000292246:N374S	N	-	2	0	ANO10	43593229	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.015000	0.88690	2.236000	0.73375	0.533000	0.62120	AAT		0.453	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		18	34	0	0	0	1	0	18	34				
KANSL1	284058	broad.mit.edu	37	17	44116470	44116470	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:44116470A>C	ENST00000262419.6	-	9	2785	c.2315T>G	c.(2314-2316)cTc>cGc	p.L772R	KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R|KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R|KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000575318.1_Intron	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	772					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGGTGGGTTGAGCAAGCGCTC	0.592																																						ENST00000262419.6																			0											c.(2314-2316)cTc>cGc		KAT8 regulatory NSL complex subunit 1							227.0	189.0	202.0					17																	44116470		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44116470A>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2315T>G	17.37:g.44116470A>C	ENSP00000262419:p.Leu772Arg					KANSL1_ENST00000432791.1_Missense_Mutation_p.L772R|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.L772R|KANSL1_ENST00000572904.1_Missense_Mutation_p.L772R	p.L772R	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			9	2785	-			772					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2315T>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294589	0.40594	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.13657	2.57;2.57	5.93	4.86	0.63082	.	0.244385	0.35067	N	0.003462	T	0.13500	0.0327	N	0.19112	0.55	0.42116	D	0.991409	P;P;P	0.45176	0.801;0.852;0.852	P;P;P	0.50896	0.561;0.653;0.653	T	0.17653	-1.0362	10	0.24483	T	0.36	-5.0625	9.6466	0.39872	0.9211:0.0:0.0789:0.0	.	103;772;772	Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;K1267_HUMAN	R	772	ENSP00000262419:L772R;ENSP00000387393:L772R	ENSP00000262419:L772R	L	-	2	0	KIAA1267	41472317	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.270000	0.43355	1.081000	0.41110	0.533000	0.62120	CTC		0.592	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		35	82	0	0	0	1	0	35	82				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	59	0	0	0	1	0	3	59				
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(901-903)del		nitric oxide synthase 1 (neuronal) adaptor protein																																				SO:0001651	inframe_deletion	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162326888_162326890delCAG	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.901_903delCAG	1.37:g.162326897_162326899delCAG	ENSP00000355133:p.Gln306del					NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	p.Q306del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		8	1303_1305	+	all_hematologic(112;0.203)		306			Poly-Gln.		B7ZLF5|O43564|Q3T551|Q5VU95	In_Frame_Del	DEL	ENST00000361897.5	37	c.901_903delCAG	CCDS1237.1																																																																																				0.611	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		8	54						8	54	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		7	106						7	106	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:100855927delG	ENST00000223127.3	-	9	1287	c.889delC	c.(889-891)cggfs	p.R297fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	297					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R297fs*61(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAACACCCGGGGGGGAGGC	0.642																																						ENST00000223127.3																			2	Deletion - Frameshift(2)	p.R297fs*61(2)	large_intestine(2)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(889-891)ggfs		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						28.0	35.0	33.0					7																	100855927		2202	4297	6499	SO:0001589	frameshift_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100855927delG	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.889delC	7.37:g.100855927delG	ENSP00000223127:p.Arg297fs						p.R297fs	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			9	1287	-	Lung NSC(181;0.168)|all_lung(186;0.215)		297					B2R6W6|Q540C3	Frame_Shift_Del	DEL	ENST00000223127.3	37	c.889delC	CCDS5715.1																																																																																				0.642	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			7	99						7	99	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:114271580_114271582delCAG	ENST00000393494.2	+	6	876		c.e6-1		FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114271580_114271582delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1CAG>-	7.37:g.114271589_114271591delCAG						FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	DEL	ENST00000393494.2	37		CCDS5760.1																																																																																				0.512	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	2	4						2	4	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		9	223						9	223	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000377970.2_In_Frame_Del_p.Q52del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(142-144)del		v-myc avian myelocytomatosis viral oncogene homolog																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del	p.Q52del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	652_654	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37					A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.142_144delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			7	134						7	134	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			4	3						4	3	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	11	13						11	13	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99457438	99457438	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr13:99457438delT	ENST00000376460.1	-	52	5662	c.5582delA	c.(5581-5583)aagfs	p.K1861fs	DOCK9_ENST00000339416.2_Frame_Shift_Del_p.K1848fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1862	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTATGCATACTTAGAATCCAG	0.438																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(5581-5583)agfs		dedicator of cytokinesis 9							86.0	82.0	83.0					13																	99457438		1913	4138	6051	SO:0001589	frameshift_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99457438delT	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5582delA	13.37:g.99457438delT	ENSP00000365643:p.Lys1861fs					DOCK9_ENST00000339416.2_Frame_Shift_Del_p.K1848fs	p.K1861fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			52	5662	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1862			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Frame_Shift_Del	DEL	ENST00000376460.1	37	c.5582delA	CCDS45062.1																																																																																				0.438	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		2	4						2	4	---	---	---	---
MIR381HG	378881	broad.mit.edu	37	14	101513130	101513132	+	lincRNA	DEL	TGG	TGG	-	rs60759868		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr14:101513130_101513132delTGG	ENST00000553692.1	+	0	28				MIR655_ENST00000362159.2_RNA|MIR889_ENST00000401280.1_RNA|MIR1185-2_ENST00000408687.1_RNA|MIR544A_ENST00000384855.1_RNA|MIR381_ENST00000362150.1_RNA|MIR487B_ENST00000385021.1_RNA|MIR539_ENST00000365690.2_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		AAACTATCATtggtggtggtggt	0.507																																						ENST00000553692.1																			0																																																			0							g.chr14:101513130_101513132delTGG	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101513139_101513141delTGG														0	28	+									RNA	DEL	ENST00000553692.1	37																																																																																						0.507	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			2	4						2	4	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	-	TGC	rs527965158|rs369920352|rs41550117|rs587781118|rs59510277	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:89876827_89876828insTGC	ENST00000268124.5	-	2	491_492	c.158_159insGCA	c.(157-159)caa>caGCAa	p.53_53Q>QQ	POLG_ENST00000442287.2_In_Frame_Ins_p.53_53Q>QQ|RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	53	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(157-159)cca>cGCAca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001652	inframe_insertion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876827_89876828insTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158dupGCA	15.37:g.89876834_89876836dupTGC	ENSP00000268124:p.Gln55dup					POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RT	p.53_53P>RT	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	491_492	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		53			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Ins	INS	ENST00000268124.5	37	c.158_159insGCA	CCDS10350.1																																																																																				0.693	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		8	24						8	24	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	91						7	91	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80173535	80173535	+	5'Flank	DEL	C	C	-	rs61581716	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:80173535delC	ENST00000389641.4	-	0	0				RP13-516M14.2_ENST00000581303.1_RNA|CCDC57_ENST00000392343.3_5'Flank|CCDC57_ENST00000392347.1_5'Flank			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57											endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			tccttccctgccccccacact	0.701													|||unknown(LONG_INSERTION)	2565	0.512181	0.5688	0.5375	5008	,	,		10887	0.5258		0.4235	False		,,,				2504	0.4949					ENST00000581303.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:80173535delC	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396		17.37:g.80173535delC	Exception_encountered													0	1371	+								A6NP51|A8MQC7|Q8IWG2|Q8TER3	RNA	DEL	ENST00000389641.4	37																																																																																						0.701	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		4	7						4	7	---	---	---	---
PBX4	80714	broad.mit.edu	37	19	19729403	19729403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:19729403delG	ENST00000251203.9	-	1	322	c.36delC	c.(34-36)cccfs	p.P12fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	12					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gccgcggggcggggggcgatg	0.766																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(34-36)ccfs		pre-B-cell leukemia homeobox 4							3.0	3.0	3.0					19																	19729403		1807	3541	5348	SO:0001589	frameshift_variant	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19729403delG	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.36delC	19.37:g.19729403delG	ENSP00000251203:p.Pro12fs						p.P12fs	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			1	322	-			12					A5D8Y0|B3KUK9	Frame_Shift_Del	DEL	ENST00000251203.9	37	c.36delC	CCDS12406.1																																																																																				0.766	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			2	4						2	4	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21142454	21142455	+	RNA	INS	-	-	C	rs556051843|rs45603533|rs11482592|rs73133315	byFrequency	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:21142454_21142455insC	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAAAAAAAAAACCCCACCTAAT	0.376													|||unknown(HR)	2735	0.546126	0.2625	0.5648	5008	,	,		17164	0.5595		0.6471	False		,,,				2504	0.7986					ENST00000591761.1																			0																																																			0							g.chr20:21142454_21142455insC																													20.37:g.21142458_21142458dupC						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	INS	ENST00000591761.1	37																																																																																						0.376	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			8	8						8	8	---	---	---	---
