#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
BPIFB4	149954	broad.mit.edu	37	20	31671236	31671236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr20:31671236G>A	ENST00000375483.3	+	3	233	c.233G>A	c.(232-234)gGc>gAc	p.G78D		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	78						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TATACCAACGGCAAAAAACTT	0.478																																						ENST00000375483.3																			0											c.(232-234)gGc>gAc		BPI fold containing family B, member 4							89.0	84.0	86.0					20																	31671236		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671236G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.233G>A	20.37:g.31671236G>A	ENSP00000364632:p.Gly78Asp						p.G78D	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	233	+			78					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.233G>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643608	0.29246	.	.	ENSG00000186191	ENST00000375483	T	0.02015	4.5	3.02	3.02	0.34903	.	0.000000	0.37577	U	0.002038	T	0.05914	0.0154	L	0.32530	0.975	0.30093	N	0.808138	D	0.89917	1.0	D	0.79108	0.992	T	0.02431	-1.1160	10	0.87932	D	0	-11.4942	9.6335	0.39793	0.0:0.0:1.0:0.0	.	78	P59827	BPIB4_HUMAN	D	78	ENSP00000364632:G78D	ENSP00000364632:G78D	G	+	2	0	BPIFB4	31134897	1.000000	0.71417	0.948000	0.38648	0.016000	0.09150	4.345000	0.59360	1.675000	0.50919	0.457000	0.33378	GGC		0.478	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		4	219	0	0	0	1	0	4	219				
LOC148709	148709	broad.mit.edu	37	1	202843376	202843376	+	lincRNA	SNP	C	C	T	rs190686557		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:202843376C>T	ENST00000456105.2	+	0	1328					NR_002929.2																						CCATCCTGGCCGCCTTCCAGC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20181	0.0		0.001	False		,,,				2504	0.0					ENST00000456105.2																			0																																																			0							g.chr1:202843376C>T																													1.37:g.202843376C>T								NR_002929.2						0	1328	+									RNA	SNP	ENST00000456105.2	37																																																																																						0.537	RP11-480I12.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099158.2			10	27	0	0	0	1	0	10	27				
SLC25A10	1468	broad.mit.edu	37	17	79682550	79682550	+	Missense_Mutation	SNP	C	C	T	rs199824906		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr17:79682550C>T	ENST00000350690.5	+	3	342	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000331531.5_Missense_Mutation_p.R86W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	86					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CGAGACTGTGCGGGACCGTGT	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14954	0.0		0.001	False		,,,				2504	0.0					ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(256-258)Cgg>Tgg		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						136.0	141.0	139.0					17																	79682550		2203	4299	6502	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682550C>T		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.256C>T	17.37:g.79682550C>T	ENSP00000345580:p.Arg86Trp					SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W|SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R86W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W	p.R86W	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		3	376	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		86					Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.256C>T	CCDS11786.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.01	3.002726	0.54254	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	3.88	2.81	0.32909	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	M	0.90759	3.145	0.52099	D	0.999945	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.981;0.963;0.978	D	0.90751	0.4657	10	0.87932	D	0	-20.6762	10.4438	0.44481	0.3778:0.6221:0.0:0.0	.	241;86;86	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	W	241;86;86;43	ENSP00000439565:R241W;ENSP00000328403:R86W;ENSP00000345580:R86W;ENSP00000446242:R43W	ENSP00000328403:R86W	R	+	1	2	SLC25A10	77292955	0.997000	0.39634	0.998000	0.56505	0.506000	0.33950	0.948000	0.29096	1.731000	0.51592	0.313000	0.20887	CGG		0.697	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			5	363	0	0	0	1	0	5	363				
ARID2	196528	broad.mit.edu	37	12	46231301	46231301	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr12:46231301C>A	ENST00000334344.6	+	10	1313	c.1141C>A	c.(1141-1143)Ctt>Att	p.L381I	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L232I|ARID2_ENST00000444670.1_Missense_Mutation_p.L10I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	381					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTGGGAAATCTTTGCAAAGC	0.323			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1141-1143)Ctt>Att		AT rich interactive domain 2 (ARID, RFX-like)							99.0	97.0	98.0					12																	46231301		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46231301C>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1141C>A	12.37:g.46231301C>A	ENSP00000335044:p.Leu381Ile					ARID2_ENST00000422737.1_Missense_Mutation_p.L232I|ARID2_ENST00000444670.1_Missense_Mutation_p.L10I|ARID2_ENST00000479608.1_3'UTR	p.L381I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	10	1313	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	381					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1141C>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775215	0.70107	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T;T	0.56941	0.43;0.43	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	L	0.41027	1.25	0.80722	D	1	D;P;D	0.69078	0.996;0.927;0.997	D;P;D	0.80764	0.994;0.753;0.978	T	0.62982	-0.6738	10	0.37606	T	0.19	-10.4989	19.024	0.92925	0.0:1.0:0.0:0.0	.	381;232;381	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	I	381;232;10	ENSP00000335044:L381I;ENSP00000415650:L232I	ENSP00000335044:L381I	L	+	1	0	ARID2	44517568	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.037000	0.70956	2.486000	0.83907	0.313000	0.20887	CTT		0.323	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		28	162	1	0	6.32553e-13	1	7.19374e-13	28	162				
OR4M2	390538	broad.mit.edu	37	15	22368774	22368774	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:22368774G>T	ENST00000332663.2	+	1	297	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTAATCTGGCCTTCCTTGA	0.408																																						ENST00000332663.2																			0				NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(199-201)Gcc>Tcc		olfactory receptor, family 4, subfamily M, member 2							476.0	410.0	433.0					15																	22368774		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368774G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.199G>T	15.37:g.22368774G>T	ENSP00000329467:p.Ala67Ser					RP11-69H14.6_ENST00000558896.1_RNA	p.A67S	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	297	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	67					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.199G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	2.711	-0.268819	0.05716	.	.	ENSG00000182974	ENST00000332663	T	0.01043	5.41	2.5	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000261	T	0.00666	0.0022	N	0.00204	-1.855	0.22468	N	0.999077	D	0.89917	1.0	D	0.72338	0.977	T	0.56220	-0.8015	10	0.02654	T	1	-11.0351	6.6792	0.23111	0.0:0.0:0.7179:0.2821	.	67	Q8NGB6	OR4M2_HUMAN	S	67	ENSP00000329467:A67S	ENSP00000329467:A67S	A	+	1	0	OR4M2	19870138	0.011000	0.17503	0.999000	0.59377	0.980000	0.70556	-0.210000	0.09345	1.422000	0.47177	0.448000	0.29417	GCC		0.408	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			13	1428	1	0	0.000274275	1	0.000279087	13	1428				
GLDN	342035	broad.mit.edu	37	15	51689743	51689743	+	Silent	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:51689743C>T	ENST00000335449.6	+	6	821	c.765C>T	c.(763-765)agC>agT	p.S255S	GLDN_ENST00000396399.2_Silent_p.S131S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	255	Pro-rich.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCCCTGGAAGCAGAAGAGCCA	0.637																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(763-765)agC>agT		gliomedin							29.0	38.0	35.0					15																	51689743		2195	4293	6488	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51689743C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.765C>T	15.37:g.51689743C>T						GLDN_ENST00000396399.2_Silent_p.S131S	p.S255S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	6	821	+			255			Pro-rich.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.765C>T	CCDS10140.2																																																																																				0.637	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		20	53	0	0	0	1	0	20	53				
KNOP1	400506	broad.mit.edu	37	16	19718262	19718262	+	Silent	SNP	G	G	A	rs377055424		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr16:19718262G>A	ENST00000219837.7	-	5	1425	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_Silent_p.N128N	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	449	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ACTTGGAAGCGTTCCTGTCAA	0.507																																						ENST00000219837.7																			0											c.(1345-1347)aaC>aaT		lysine-rich nucleolar protein 1		G		1,3681		0,1,1840	125.0	134.0	131.0		1347	-7.4	0.5	16		131	1,8169		0,1,4084	no	coding-synonymous	C16orf88	NM_001012991.2		0,2,5924	AA,AG,GG		0.0122,0.0272,0.0169		449/459	19718262	2,11850	1841	4085	5926	SO:0001819	synonymous_variant	400506							g.chr16:19718262G>A	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.1347C>T	16.37:g.19718262G>A						KNOP1_ENST00000568230.1_Silent_p.N128N|AC002550.5_ENST00000565916.1_RNA	p.N449N	NM_001012991.2	NP_001013009.2					5	1425	-								O43328|Q5FWF3	Silent	SNP	ENST00000219837.7	37	c.1347C>T	CCDS42127.1																																																																																				0.507	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		141	271	0	0	0	1	0	141	271				
RRH	10692	broad.mit.edu	37	4	110754331	110754331	+	Missense_Mutation	SNP	G	G	A	rs372427391		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:110754331G>A	ENST00000317735.4	+	2	177	c.143G>A	c.(142-144)gGc>gAc	p.G48D		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	48					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		ATAGTTCTGGGCATCTTCATT	0.353																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(142-144)gGc>gAc		retinal pigment epithelium-derived rhodopsin homolog		G	ASP/GLY	0,4406		0,0,2203	95.0	92.0	93.0		143	5.0	1.0	4		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	RRH	NM_006583.2	94	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	48/338	110754331	1,13005	2203	4300	6503	SO:0001583	missense	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110754331G>A	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.143G>A	4.37:g.110754331G>A	ENSP00000314992:p.Gly48Asp						p.G48D	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	2	177	+		Hepatocellular(203;0.217)	48					A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	c.143G>A	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942548	0.53079	0.0	1.16E-4	ENSG00000180245	ENST00000317735	T	0.19669	2.13	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.172181	0.51477	D	0.000087	T	0.28928	0.0718	L	0.56769	1.78	0.47476	D	0.999439	P	0.47841	0.901	B	0.43445	0.42	T	0.10405	-1.0631	10	0.72032	D	0.01	.	18.6797	0.91543	0.0:0.0:1.0:0.0	.	48	O14718	OPSX_HUMAN	D	48	ENSP00000314992:G48D	ENSP00000314992:G48D	G	+	2	0	RRH	110973780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.979000	0.70508	2.475000	0.83589	0.591000	0.81541	GGC		0.353	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		12	142	0	0	0	1	0	12	142				
DTX3L	151636	broad.mit.edu	37	3	122287626	122287626	+	Silent	SNP	A	A	G			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:122287626A>G	ENST00000296161.4	+	3	879	c.690A>G	c.(688-690)gaA>gaG	p.E230E	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	230					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CCAAGGCAGAACAAAAAAGCA	0.383																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(688-690)gaA>gaG		deltex 3-like (Drosophila)							61.0	61.0	61.0					3																	122287626		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287626A>G		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.690A>G	3.37:g.122287626A>G						DTX3L_ENST00000383661.3_Intron	p.E230E	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	879	+			230					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.690A>G	CCDS3015.1																																																																																				0.383	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		37	66	0	0	0	1	0	37	66				
HIVEP1	3096	broad.mit.edu	37	6	12122606	12122606	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:12122606C>T	ENST00000379388.2	+	4	2910	c.2578C>T	c.(2578-2580)Cca>Tca	p.P860S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	860					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCTCCTCATCCACTAAGAGG	0.448																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(2578-2580)Cca>Tca		human immunodeficiency virus type I enhancer binding protein 1							116.0	110.0	112.0					6																	12122606		1915	4140	6055	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122606C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2578C>T	6.37:g.12122606C>T	ENSP00000368698:p.Pro860Ser						p.P860S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	2910	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	860					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2578C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006826	0.35415	.	.	ENSG00000095951	ENST00000379388	T	0.10382	2.88	6.02	5.14	0.70334	.	0.229154	0.22633	N	0.057552	T	0.03178	0.0093	L	0.33245	0.995	0.80722	D	1	P	0.38617	0.64	B	0.32465	0.146	T	0.49051	-0.8979	9	.	.	.	-15.6567	11.2566	0.49058	0.127:0.8068:0.0:0.0662	.	860	P15822	ZEP1_HUMAN	S	860	ENSP00000368698:P860S	.	P	+	1	0	HIVEP1	12230592	0.999000	0.42202	0.122000	0.21767	0.986000	0.74619	4.872000	0.63050	1.530000	0.49136	0.655000	0.94253	CCA		0.448	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		50	208	0	0	0	1	0	50	208				
SLC26A6	65010	broad.mit.edu	37	3	48669775	48669775	+	Missense_Mutation	SNP	G	G	A	rs185250845	byFrequency	TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:48669775G>A	ENST00000395550.2	-	5	535	c.488C>T	c.(487-489)cCg>cTg	p.P163L	SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Intron|SLC26A6_ENST00000358747.6_Missense_Mutation_p.P142L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.P163L|SLC26A6_ENST00000420764.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000337000.8_Intron			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	163					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CAAGGCCTGCGGGGCCAGGGA	0.597													G|||	6	0.00119808	0.0015	0.0	5008	,	,		20335	0.004		0.0	False		,,,				2504	0.0				NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(424-426)cCg>cTg		solute carrier family 26 (anion exchanger), member 6		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	4,4258		0,4,2127	50.0	54.0	53.0		425,488,488,488	2.9	0.1	3		53	0,8458		0,0,4229	no	missense,missense,missense,missense	SLC26A6	NM_001040454.1,NM_022911.2,NM_134263.2,NM_134426.2	98,98,98,98	0,4,6356	AA,AG,GG		0.0,0.0939,0.0314	benign,benign,benign,benign	142/739,163/760,163/759,163/741	48669775	4,12716	2131	4229	6360	SO:0001583	missense	65010							g.chr3:48669775G>A	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.488C>T	3.37:g.48669775G>A	ENSP00000378920:p.Pro163Leu					SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000420764.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000395550.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.P163L|SLC26A6_ENST00000455886.2_Intron	p.P142L	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	4	675	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.425C>T	CCDS43087.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.2	4.385919	0.82902	9.39E-4	0.0	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000447978;ENST00000358747;ENST00000421649	D;D;D;D;D	0.94497	-3.24;-3.24;-3.33;-3.22;-3.44	4.74	2.94	0.34122	.	.	.	.	.	D	0.96821	0.8962	M	0.87827	2.91	0.52099	D	0.999945	P;D;D;D;B	0.76494	0.947;0.999;0.973;0.973;0.021	B;D;B;B;B	0.67382	0.325;0.951;0.406;0.406;0.004	D	0.96252	0.9184	9	0.87932	D	0	.	10.6123	0.45429	0.1571:0.0:0.8429:0.0	.	176;163;163;163;3568	Q86YZ4;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;S26A6_HUMAN;.	L	163;163;163;176;142;9	ENSP00000404684:P163L;ENSP00000378920:P163L;ENSP00000373239:P163L;ENSP00000351597:P142L;ENSP00000389922:P9L	ENSP00000351597:P142L	P	-	2	0	SLC26A6	48644779	1.000000	0.71417	0.052000	0.19188	0.156000	0.22039	4.998000	0.63927	0.591000	0.29711	0.557000	0.71058	CCG		0.597	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		21	46	0	0	0	1	0	21	46				
PPP3CA	5530	broad.mit.edu	37	4	101947178	101947178	+	Silent	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:101947178G>A	ENST00000394854.3	-	14	2093	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PPP3CA_ENST00000512215.1_Silent_p.F238F|PPP3CA_ENST00000323055.6_Silent_p.F418F|PPP3CA_ENST00000523694.2_Silent_p.F403F|PPP3CA_ENST00000394853.4_Silent_p.F460F|PPP3CA_ENST00000507176.1_Silent_p.F372F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	470	Inhibitory domain.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCTTCCTCGAAGCTAGTGA	0.438																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1408-1410)ttC>ttT		protein phosphatase 3, catalytic subunit, alpha isozyme							147.0	142.0	144.0					4																	101947178		2203	4300	6503	SO:0001819	synonymous_variant	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947178G>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1410C>T	4.37:g.101947178G>A						PPP3CA_ENST00000507176.1_Silent_p.F372F|PPP3CA_ENST00000512215.1_Silent_p.F238F|PPP3CA_ENST00000394853.4_Silent_p.F460F|PPP3CA_ENST00000323055.6_Silent_p.F418F|PPP3CA_ENST00000523694.2_Silent_p.F403F	p.F470F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2093	-			470			Inhibitory domain.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	ENST00000394854.3	37	c.1410C>T	CCDS34037.1																																																																																				0.438	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		4	199	0	0	0	1	0	4	199				
BRD3	8019	broad.mit.edu	37	9	136899859	136899859	+	Missense_Mutation	SNP	C	C	T	rs202198193		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr9:136899859C>T	ENST00000303407.7	-	11	2214	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	BRD3_ENST00000473349.1_5'UTR|LINC00094_ENST00000605164.1_RNA	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	677	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.G677R(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCAGCTGCCCGCTGACATCC	0.617			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	2	Substitution - Missense(2)	p.G677R(2)	prostate(2)	kidney(1)|skin(1)|stomach(4)	6						c.(2029-2031)Ggg>Agg		bromodomain containing 3							104.0	102.0	103.0					9																	136899859		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136899859C>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.2029G>A	9.37:g.136899859C>T	ENSP00000305918:p.Gly677Arg					BRD3_ENST00000473349.1_5'UTR	p.G677R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	11	2214	-			677			Ser-rich.		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.2029G>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643449	0.87859	.	.	ENSG00000169925	ENST00000303407;ENST00000540795	T	0.33216	1.42	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64676	-0.6351	10	0.59425	D	0.04	-40.4828	16.7337	0.85442	0.0:1.0:0.0:0.0	.	677	Q15059	BRD3_HUMAN	R	677;356	ENSP00000305918:G677R	ENSP00000305918:G677R	G	-	1	0	BRD3	135889680	1.000000	0.71417	0.925000	0.36789	0.830000	0.47004	6.896000	0.75665	2.185000	0.69588	0.491000	0.48974	GGG		0.617	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		4	232	0	0	0	1	0	4	232				
ADAM21P1	145241	broad.mit.edu	37	14	70714217	70714217	+	RNA	SNP	C	C	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr14:70714217C>A	ENST00000530196.1	-	0	301					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AGCCTTTGCACTTCTGCCCCT	0.502																																						ENST00000530196.1																			0																																																			0							g.chr14:70714217C>A			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714217C>A								NR_003951.1						0	301	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.502	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		41	100	1	0	4.17593e-13	1	4.84408e-13	41	100				
ANK3	288	broad.mit.edu	37	10	61958141	61958141	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr10:61958141G>A	ENST00000280772.2	-	14	1837	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	ANK3_ENST00000503366.1_Missense_Mutation_p.A532V|ANK3_ENST00000373827.2_Missense_Mutation_p.A543V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	549					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAAAAGGAACGCGGCCACATC	0.502																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(1645-1647)gCg>gTg		ankyrin 3, node of Ranvier (ankyrin G)							105.0	104.0	105.0					10																	61958141		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61958141G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1646C>T	10.37:g.61958141G>A	ENSP00000280772:p.Ala549Val					ANK3_ENST00000373827.2_Missense_Mutation_p.A543V|ANK3_ENST00000503366.1_Missense_Mutation_p.A532V	p.A549V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			14	1837	-			549					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.1646C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261539	0.23051	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.64803	-0.12;-0.12;-0.12	5.63	5.63	0.86233	Ankyrin repeat-containing domain (4);	0.431903	0.17026	N	0.189918	T	0.54935	0.1889	L	0.31120	0.905	0.80722	D	1	B;B;B;B;B	0.25235	0.004;0.121;0.013;0.06;0.035	B;B;B;B;B	0.21151	0.003;0.018;0.033;0.015;0.017	T	0.50709	-0.8796	10	0.49607	T	0.09	.	19.6873	0.95984	0.0:0.0:1.0:0.0	.	532;210;93;543;549	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	V	549;543;532;511;210;210;93	ENSP00000280772:A549V;ENSP00000362933:A543V;ENSP00000425236:A532V	ENSP00000280772:A549V	A	-	2	0	ANK3	61628147	0.791000	0.28800	0.012000	0.15200	0.268000	0.26511	4.131000	0.57970	2.650000	0.89964	0.557000	0.71058	GCG		0.502	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		19	127	0	0	0	1	0	19	127				
TMEM203	94107	broad.mit.edu	37	9	140099751	140099751	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr9:140099751C>G	ENST00000343666.5	-	1	339	c.116G>C	c.(115-117)gGc>gCc	p.G39A	NDOR1_ENST00000458322.2_5'Flank|NDOR1_ENST00000427047.2_5'Flank|NDOR1_ENST00000344894.5_5'Flank|TPRN_ENST00000541945.1_5'Flank|NDOR1_ENST00000371521.4_5'Flank|TMEM203_ENST00000537254.1_Missense_Mutation_p.G39A	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	39						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGGACCAGGCCATCCACACG	0.632																																						ENST00000343666.5																			0				central_nervous_system(1)|kidney(1)	2						c.(115-117)gGc>gCc		transmembrane protein 203							45.0	47.0	46.0					9																	140099751		2199	4291	6490	SO:0001583	missense	94107					integral to membrane		g.chr9:140099751C>G	BC009283	CCDS35185.1	9q34.3	2007-12-18			ENSG00000187713	ENSG00000187713			28217	protein-coding gene	gene with protein product	"""HBeAg-binding protein 1"""					12477932	Standard	NM_053045		Approved	MGC14327, HBEBP1	uc004clv.3	Q969S6	OTTHUMG00000020985	ENST00000343666.5:c.116G>C	9.37:g.140099751C>G	ENSP00000375053:p.Gly39Ala					TMEM203_ENST00000537254.1_Missense_Mutation_p.G39A	p.G39A	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	1	339	-	all_cancers(76;0.0926)		39					Q6NW08	Missense_Mutation	SNP	ENST00000343666.5	37	c.116G>C	CCDS35185.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773133	0.31411	.	.	ENSG00000187713	ENST00000343666;ENST00000537254	T;T	0.22336	1.96;1.96	4.13	2.08	0.27032	.	0.519321	0.18487	U	0.139771	T	0.17746	0.0426	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.19451	-1.0305	10	0.66056	D	0.02	.	7.4709	0.27349	0.0:0.758:0.0:0.242	.	39	Q969S6	TM203_HUMAN	A	39	ENSP00000375053:G39A;ENSP00000446302:G39A	ENSP00000375053:G39A	G	-	2	0	TMEM203	139219572	1.000000	0.71417	0.989000	0.46669	0.601000	0.36947	2.323000	0.43823	0.943000	0.37553	0.655000	0.94253	GGC		0.632	TMEM203-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055325.2	NM_053045		9	19	0	0	0	1	0	9	19				
USP19	10869	broad.mit.edu	37	3	49152282	49152282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:49152282G>A	ENST00000398888.2	-	14	2215	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398892.3_Missense_Mutation_p.R673W|USP19_ENST00000417901.1_Missense_Mutation_p.R736W|USP19_ENST00000434032.2_Missense_Mutation_p.R734W|USP19_ENST00000398898.2_Missense_Mutation_p.R673W|USP19_ENST00000398896.1_Missense_Mutation_p.R441W|USP19_ENST00000453664.1_Missense_Mutation_p.R724W	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	633	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTGTGCCGCTGCCATGCT	0.562																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2170-2172)Cgg>Tgg		ubiquitin specific peptidase 19							85.0	85.0	85.0					3																	49152282		2127	4245	6372	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152282G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1897C>T	3.37:g.49152282G>A	ENSP00000381863:p.Arg633Trp					USP19_ENST00000417901.1_Missense_Mutation_p.R736W|USP19_ENST00000398888.2_Missense_Mutation_p.R633W|USP19_ENST00000398892.3_Missense_Mutation_p.R673W|USP19_ENST00000398896.1_Missense_Mutation_p.R441W|USP19_ENST00000398898.2_Missense_Mutation_p.R673W|USP19_ENST00000434032.2_Missense_Mutation_p.R734W	p.R724W	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	15	2488	-			633					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.2170C>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142032	0.77775	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.81	3.95	0.45737	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.65975	2.015	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;0.996	T	0.57382	-0.7821	10	0.87932	D	0	-21.2219	14.9148	0.70789	0.0:0.0:0.6288:0.3712	.	734;724;633;673;441	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	W	441;673;736;724;673;633;734	ENSP00000381870:R441W;ENSP00000381872:R673W;ENSP00000395260:R736W;ENSP00000400090:R724W;ENSP00000381867:R673W;ENSP00000381863:R633W;ENSP00000401197:R734W	ENSP00000381863:R633W	R	-	1	2	USP19	49127286	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.509000	0.35780	0.721000	0.32231	0.655000	0.94253	CGG		0.562	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		4	100	0	0	0	1	0	4	100				
BLK	640	broad.mit.edu	37	8	11418859	11418859	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr8:11418859G>A	ENST00000259089.4	+	11	1670	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	RP11-148O21.2_ENST00000533322.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.D289N	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CATCCACCGCGACCTGCGGGC	0.557																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(1078-1080)Gac>Aac		B lymphoid tyrosine kinase							106.0	84.0	92.0					8																	11418859		2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11418859G>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1078G>A	8.37:g.11418859G>A	ENSP00000259089:p.Asp360Asn					BLK_ENST00000529894.1_Missense_Mutation_p.D289N	p.D360N	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	11	1670	+			360			Protein kinase.		Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.1078G>A	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444001	0.83993	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894;ENST00000526097	T;T	0.29917	1.55;1.55	4.6	4.6	0.57074	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000311	T	0.62708	0.2450	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.72194	-0.4364	10	0.87932	D	0	.	16.7636	0.85519	0.0:0.0:1.0:0.0	.	196;360	E9PM44;P51451	.;BLK_HUMAN	N	360;360;289;196	ENSP00000259089:D360N;ENSP00000433663:D289N	ENSP00000259089:D360N	D	+	1	0	BLK	11456268	1.000000	0.71417	0.997000	0.53966	0.470000	0.32858	9.492000	0.97957	2.250000	0.74265	0.561000	0.74099	GAC		0.557	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			16	33	0	0	0	1	0	16	33				
SLC38A8	146167	broad.mit.edu	37	16	84050239	84050239	+	Silent	SNP	C	C	T	rs556526539		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr16:84050239C>T	ENST00000299709.3	-	8	1046	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	349					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGATGGTCAGCGGCATCCGGA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		19191	0.0		0.0	False		,,,				2504	0.001					ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1045-1047)ccG>ccA		solute carrier family 38, member 8							61.0	58.0	59.0					16																	84050239		2200	4300	6500	SO:0001819	synonymous_variant	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050239C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1047G>A	16.37:g.84050239C>T							p.P349P	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			8	1046	-			349						Silent	SNP	ENST00000299709.3	37	c.1047G>A	CCDS32495.1																																																																																				0.637	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		31	59	0	0	0	1	0	31	59				
BACE2	25825	broad.mit.edu	37	21	42613772	42613772	+	Silent	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr21:42613772C>T	ENST00000330333.6	+	4	1108	c.645C>T	c.(643-645)ttC>ttT	p.F215F	BACE2_ENST00000347667.5_Silent_p.F215F|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Silent_p.F215F	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	215					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGACCTTCTTCGACTCCCTGG	0.582																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(643-645)ttC>ttT		beta-site APP-cleaving enzyme 2							137.0	136.0	136.0					21																	42613772		2203	4300	6503	SO:0001819	synonymous_variant	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42613772C>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.645C>T	21.37:g.42613772C>T						BACE2_ENST00000328735.6_Silent_p.F215F|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Silent_p.F215F	p.F215F	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			4	1108	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	215					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	37	c.645C>T	CCDS13668.1																																																																																				0.582	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			69	139	0	0	0	1	0	69	139				
RSPO3	84870	broad.mit.edu	37	6	127471594	127471594	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:127471594T>A	ENST00000356698.4	+	3	902	c.313T>A	c.(313-315)Tgt>Agt	p.C105S	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.C105S	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	105					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CTGTGATACCTGTTTCAACAA	0.373																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(313-315)Tgt>Agt		R-spondin 3							80.0	80.0	80.0					6																	127471594		2203	4299	6502	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127471594T>A	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.313T>A	6.37:g.127471594T>A	ENSP00000349131:p.Cys105Ser					RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.C105S	p.C105S	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	3	902	+			105					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.313T>A	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750002	0.89753	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.84516	-1.86;-1.86	5.73	5.73	0.89815	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.93739	0.7999	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	D	0.95193	0.8310	10	0.87932	D	0	-27.755	16.3143	0.82909	0.0:0.0:0.0:1.0	.	105;105	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	S	105	ENSP00000349131:C105S;ENSP00000357300:C105S	ENSP00000349131:C105S	C	+	1	0	RSPO3	127513287	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.997000	0.88414	2.313000	0.78055	0.454000	0.30748	TGT		0.373	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		40	86	0	0	0	1	0	40	86				
SH3BP5	9467	broad.mit.edu	37	3	15300421	15300421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:15300421C>T	ENST00000383791.3	-	7	1026	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.R112Q|SH3BP5_ENST00000426925.1_Missense_Mutation_p.R112Q|SH3BP5_ENST00000408919.3_Missense_Mutation_p.R112Q	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	269					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ACCGCATCCCCGAGGCCCCAT	0.597																																						ENST00000383791.3																			0				NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						c.(805-807)cGg>cAg		SH3-domain binding protein 5 (BTK-associated)							71.0	65.0	67.0					3																	15300421		2203	4300	6503	SO:0001583	missense	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15300421C>T	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.806G>A	3.37:g.15300421C>T	ENSP00000373301:p.Arg269Gln					SH3BP5_ENST00000253688.5_Missense_Mutation_p.R112Q|SH3BP5_ENST00000426925.1_Missense_Mutation_p.R112Q|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5_ENST00000408919.3_Missense_Mutation_p.R112Q|SH3BP5-AS1_ENST00000436602.1_RNA	p.R269Q	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN			7	1026	-			269					B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	37	c.806G>A	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	C	35	5.431012	0.96150	.	.	ENSG00000131370	ENST00000383791;ENST00000426925;ENST00000253688;ENST00000408919;ENST00000366391	.	.	.	5.32	4.45	0.53987	.	0.109704	0.64402	D	0.000007	T	0.74253	0.3692	M	0.70275	2.135	0.52501	D	0.99995	D	0.69078	0.997	P	0.59761	0.863	T	0.78006	-0.2373	9	0.87932	D	0	-7.913	13.8366	0.63413	0.0:0.925:0.0:0.075	.	269	O60239	3BP5_HUMAN	Q	269;112;112;112;112	.	ENSP00000253688:R112Q	R	-	2	0	SH3BP5	15275425	1.000000	0.71417	0.973000	0.42090	0.928000	0.56348	6.065000	0.71176	1.259000	0.44117	-0.422000	0.05995	CGG		0.597	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		37	58	0	0	0	1	0	37	58				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	111	1	0	8.12818e-05	1	8.57154e-05	7	111				
DNM1P47	100216544	broad.mit.edu	37	15	102304869	102304869	+	RNA	SNP	T	T	C	rs202067427		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:102304869T>C	ENST00000561463.1	+	0	12915									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.572																																						ENST00000561463.1																			0																																																			0							g.chr15:102304869T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304869T>C														0	12915	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.572	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	36	0	0	0	1	0	4	36				
ZMYM6	9204	broad.mit.edu	37	1	35476613	35476613	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:35476613T>C	ENST00000357182.4	-	9	1314	c.1087A>G	c.(1087-1089)Aca>Gca	p.T363A	ZMYM6_ENST00000373340.2_Missense_Mutation_p.T363A|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.T363A	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	363					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GAAGAGTTTGTTCCTTTTGGC	0.433																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1087-1089)Aca>Gca		zinc finger, MYM-type 6							47.0	48.0	47.0					1																	35476613		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476613T>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1087A>G	1.37:g.35476613T>C	ENSP00000349708:p.Thr363Ala					ZMYM6_ENST00000487874.1_Missense_Mutation_p.T363A|ZMYM6_ENST00000373340.2_Missense_Mutation_p.T363A|ZMYM6_ENST00000493328.1_5'UTR	p.T363A	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			9	1314	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	363					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1087A>G	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	6.780	0.512907	0.12944	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.23348	1.91;3.02	5.2	-0.158	0.13383	.	0.975282	0.08488	N	0.938373	T	0.14356	0.0347	N	0.24115	0.695	0.23708	N	0.997051	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.001;0.002;0.005	T	0.38090	-0.9677	10	0.15066	T	0.55	-0.6218	5.9793	0.19399	0.0:0.3036:0.2348:0.4616	.	266;363;363	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	A	363	ENSP00000362437:T363A;ENSP00000349708:T363A	ENSP00000349708:T363A	T	-	1	0	ZMYM6	35249200	0.880000	0.30214	0.992000	0.48379	0.991000	0.79684	-0.004000	0.12878	-0.108000	0.12066	0.533000	0.62120	ACA		0.433	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		33	54	0	0	0	1	0	33	54				
ROS1	6098	broad.mit.edu	37	6	117700221	117700221	+	Splice_Site	SNP	C	C	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:117700221C>A	ENST00000368508.3	-	17	2796		c.e17+1		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTCTACTTACCTCTGTCCCC	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.e17+1		c-ros oncogene 1 , receptor tyrosine kinase							84.0	77.0	80.0					6																	117700221		2203	4300	6503	SO:0001630	splice_region_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117700221C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2597+1G>T	6.37:g.117700221C>A						ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron		NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	17	2796	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)						Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37		CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435921	0.62955	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2534	0.66035	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117806914	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	4.507000	0.60434	2.478000	0.83669	0.655000	0.94253	.		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron	7	91	1	0	2.7689e-08	1	3.08838e-08	7	91				
FLT3	2322	broad.mit.edu	37	13	28608473	28608473	+	Missense_Mutation	SNP	C	C	T	rs35958982	byFrequency	TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr13:28608473C>T	ENST00000241453.7	-	13	1750	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I	FLT3_ENST00000380982.4_Missense_Mutation_p.V557I|FLT3_ENST00000537084.1_Missense_Mutation_p.V557I	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	557			V -> I (in dbSNP:rs35958982). {ECO:0000269|PubMed:17344846}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V557I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGTTAAAACGACAATGAAG	0.393			"""Mis, O"""		"""AML, ALL"""								c|||	285	0.0569089	0.1982	0.0274	5008	,	,		20888	0.004		0.0	False		,,,				2504	0.0					ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		1	Substitution - Missense(1)	p.V557I(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1669-1671)Gtt>Att		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)	T	ILE/VAL	682,3724	288.7+/-280.0	46,590,1567	96.0	90.0	92.0		1669	2.7	0.0	13	dbSNP_126	92	9,8591	5.7+/-21.5	0,9,4291	yes	missense	FLT3	NM_004119.2	29	46,599,5858	TT,TC,CC		0.1047,15.4789,5.3129	benign	557/994	28608473	691,12315	2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28608473C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1669G>A	13.37:g.28608473C>T	ENSP00000241453:p.Val557Ile					FLT3_ENST00000537084.1_Missense_Mutation_p.V557I|FLT3_ENST00000241453.7_Missense_Mutation_p.V557I	p.V557I			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	13	1750	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	557		V -> I (in dbSNP:rs35958982).			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1669G>A	CCDS31953.1	122	0.055860805860805864	109	0.22154471544715448	11	0.03038674033149171	2	0.0034965034965034965	0	0.0	c	5.584	0.292623	0.10567	0.154789	0.001047	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.75704	-0.89;-0.96;-0.7	5.83	2.69	0.31865	.	0.552763	0.17442	N	0.174076	T	0.00039	0.0001	N	0.26042	0.785	0.80722	P	0.0	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.0	T	0.04307	-1.0961	9	0.06891	T	0.86	.	5.0992	0.14751	0.2162:0.5351:0.0:0.2488	rs35958982;rs61729142	557;557	P36888-2;P36888	.;FLT3_HUMAN	I	557	ENSP00000241453:V557I;ENSP00000370369:V557I;ENSP00000438139:V557I	ENSP00000241453:V557I	V	-	1	0	FLT3	27506473	0.004000	0.15560	0.001000	0.08648	0.558000	0.35554	0.055000	0.14229	0.198000	0.20407	-0.119000	0.15052	GTT		0.393	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			37	89	0	0	0	1	0	37	89				
VSIG2	23584	broad.mit.edu	37	11	124619648	124619648	+	Missense_Mutation	SNP	C	C	T	rs148389397		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr11:124619648C>T	ENST00000326621.5	-	4	642	c.542G>A	c.(541-543)cGt>cAt	p.R181H	VSIG2_ENST00000403470.1_Missense_Mutation_p.R181H	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	181	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGTTCCAAGACGCACCCAGTT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		15584	0.001		0.0	False		,,,				2504	0.0					ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(541-543)cGt>cAt		V-set and immunoglobulin domain containing 2		C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	104.0	102.0	103.0		542	-2.0	0.1	11	dbSNP_134	103	1,8597	1.2+/-3.3	0,1,4298	yes	missense	VSIG2	NM_014312.3	29	0,3,6497	TT,TC,CC		0.0116,0.0454,0.0231	benign	181/328	124619648	3,12997	2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124619648C>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.542G>A	11.37:g.124619648C>T	ENSP00000318684:p.Arg181His					VSIG2_ENST00000326621.5_Missense_Mutation_p.R181H	p.R181H			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	4	597	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	181			Ig-like C2-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.542G>A	CCDS8452.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.08	2.130721	0.37630	4.54E-4	1.16E-4	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.17370	2.28;2.28	5.5	-1.99	0.07457	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.711398	0.13674	N	0.370668	T	0.15219	0.0367	L	0.61218	1.895	0.09310	N	0.999999	B	0.14012	0.009	B	0.06405	0.002	T	0.21965	-1.0230	10	0.54805	T	0.06	.	6.4674	0.21990	0.1313:0.2765:0.0:0.5922	.	181	Q96IQ7	VSIG2_HUMAN	H	181	ENSP00000318684:R181H;ENSP00000385013:R181H	ENSP00000318684:R181H	R	-	2	0	VSIG2	124124858	0.000000	0.05858	0.108000	0.21378	0.976000	0.68499	-2.623000	0.00876	-0.389000	0.07786	-0.150000	0.13652	CGT		0.557	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		56	84	0	0	0	1	0	56	84				
EVC2	132884	broad.mit.edu	37	4	5696191	5696191	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:5696191C>T	ENST00000344408.5	-	3	374	c.321G>A	c.(319-321)atG>atA	p.M107I	EVC2_ENST00000344938.1_Missense_Mutation_p.M107I|EVC2_ENST00000310917.2_Missense_Mutation_p.M27I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	107					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGAAGACTTCCATTTTCTTGT	0.413																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(79-81)atG>atA		Ellis van Creveld syndrome 2							165.0	168.0	167.0					4																	5696191		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5696191C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.321G>A	4.37:g.5696191C>T	ENSP00000342144:p.Met107Ile					EVC2_ENST00000344408.5_Missense_Mutation_p.M107I|EVC2_ENST00000344938.1_Missense_Mutation_p.M107I	p.M27I	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			3	812	-			107					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.81G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	7.021	0.558743	0.13436	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73152	-0.72;-0.71;-0.72	4.36	-8.72	0.00845	.	0.756449	0.11153	N	0.593894	T	0.40448	0.1117	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14952	-1.0454	10	0.32370	T	0.25	3.9178	3.754	0.08578	0.2045:0.5046:0.1733:0.1176	.	107	Q86UK5	LBN_HUMAN	I	107;27;107	ENSP00000339954:M107I;ENSP00000311683:M27I;ENSP00000342144:M107I	ENSP00000311683:M27I	M	-	3	0	EVC2	5747092	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-1.345000	0.02637	-1.122000	0.02945	-0.474000	0.04947	ATG		0.413	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		35	93	0	0	0	1	0	35	93				
ADAM21	8747	broad.mit.edu	37	14	70924377	70924377	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr14:70924377G>T	ENST00000603540.1	+	2	419	c.161G>T	c.(160-162)aGt>aTt	p.S54I	ADAM21_ENST00000267499.3_Missense_Mutation_p.S54I|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	54					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGGGCAGAAGTGCAAAGGCT	0.522																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(160-162)aGt>aTt		ADAM metallopeptidase domain 21							96.0	104.0	101.0					14																	70924377		2203	4298	6501	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924377G>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.161G>T	14.37:g.70924377G>T	ENSP00000474385:p.Ser54Ile					ADAM21_ENST00000267499.3_Missense_Mutation_p.S54I|RP11-486O13.4_ENST00000556646.1_lincRNA	p.S54I	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	419	+			54					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.161G>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	5.641	0.302895	0.10678	.	.	ENSG00000139985	ENST00000267499	T	0.06849	3.25	3.77	0.524	0.17066	Peptidase M12B, propeptide (1);	1.068100	0.07428	U	0.895125	T	0.11067	0.0270	M	0.68317	2.08	0.09310	N	1	B	0.18310	0.027	B	0.28784	0.094	T	0.43523	-0.9386	10	0.59425	D	0.04	.	2.9662	0.05908	0.2457:0.0:0.5402:0.2141	.	54	Q9UKJ8	ADA21_HUMAN	I	54	ENSP00000267499:S54I	ENSP00000267499:S54I	S	+	2	0	ADAM21	69994130	0.002000	0.14202	0.005000	0.12908	0.364000	0.29643	0.105000	0.15333	0.353000	0.24079	0.563000	0.77884	AGT		0.522	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			18	250	1	0	7.33532e-06	1	7.87868e-06	18	250				
DISP2	85455	broad.mit.edu	37	15	40661876	40661876	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:40661876G>A	ENST00000267889.3	+	8	3650	c.3563G>A	c.(3562-3564)cGg>cAg	p.R1188Q	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1188					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGTCCCACCGGCCCTCAGTA	0.652																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(3562-3564)cGg>cAg		dispatched homolog 2 (Drosophila)							71.0	78.0	76.0					15																	40661876		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40661876G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3563G>A	15.37:g.40661876G>A	ENSP00000267889:p.Arg1188Gln						p.R1188Q	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3650	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1188					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.3563G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878510	0.72294	.	.	ENSG00000140323	ENST00000267889	T	0.19532	2.14	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.38188	0.1031	L	0.32530	0.975	0.52501	D	0.99995	D	0.89917	1.0	D	0.77557	0.99	T	0.03043	-1.1079	10	0.48119	T	0.1	-26.8269	19.5944	0.95530	0.0:0.0:1.0:0.0	.	1188	A7MBM2	DISP2_HUMAN	Q	1188	ENSP00000267889:R1188Q	ENSP00000267889:R1188Q	R	+	2	0	DISP2	38449168	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.456000	0.73501	2.868000	0.98415	0.555000	0.69702	CGG		0.652	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		61	137	0	0	0	1	0	61	137				
NAF1	92345	broad.mit.edu	37	4	164050411	164050411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:164050411G>A	ENST00000274054.2	-	8	1316	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	375					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAAATCCTCGTGTGAATTCT	0.448																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1123-1125)Cga>Tga		nuclear assembly factor 1 ribonucleoprotein							105.0	111.0	109.0					4																	164050411		2203	4300	6503	SO:0001587	stop_gained	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050411G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1123C>T	4.37:g.164050411G>A	ENSP00000274054:p.Arg375*					NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.R375*	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1316	-	all_hematologic(180;0.166)	Prostate(90;0.109)	375					D3DP28|E9PAZ2	Nonsense_Mutation	SNP	ENST00000274054.2	37	c.1123C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808836	0.50421	.	.	ENSG00000145414	ENST00000274054	.	.	.	4.71	-1.19	0.09585	.	0.519016	0.17234	N	0.181810	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-2.034	3.5873	0.07975	0.0796:0.3444:0.2622:0.3139	.	.	.	.	X	375	.	ENSP00000274054:R375X	R	-	1	2	NAF1	164269861	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	-0.399000	0.07668	-0.218000	0.12543	CGA		0.448	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		19	83	0	0	0	1	0	19	83				
TNXB	7148	broad.mit.edu	37	6	32020677	32020677	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:32020677C>T	ENST00000375244.3	-	26	9086	c.8885G>A	c.(8884-8886)gGa>gAa	p.G2962E	TNXB_ENST00000375247.2_Missense_Mutation_p.G2960E			P22105	TENX_HUMAN	tenascin XB	3007	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						AGGGGAGGATCCTGTCACTGT	0.667																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8884-8886)gGa>gAa		tenascin XB							45.0	51.0	49.0					6																	32020677		1189	2513	3702	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.chr6:32020677C>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.8885G>A	6.37:g.32020677C>T	ENSP00000364393:p.Gly2962Glu					TNXB_ENST00000375247.2_Missense_Mutation_p.G2960E	p.G2962E			P22105	TENX_HUMAN			26	9086	-			3007			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.8885G>A		.	.	.	.	.	.	.	.	.	.	c	9.487	1.099607	0.20552	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55234	0.53;0.53	4.47	1.53	0.23141	.	0.246989	0.21420	U	0.074827	T	0.26846	0.0657	L	0.45285	1.41	0.19575	N	0.999969	P	0.52170	0.951	P	0.57548	0.823	T	0.28332	-1.0047	10	0.02654	T	1	.	4.0329	0.09717	0.0:0.552:0.2103:0.2377	.	2960	P22105-3	.	E	2962;2960	ENSP00000364393:G2962E;ENSP00000364396:G2960E	ENSP00000364393:G2962E	G	-	2	0	TNXB	32128655	0.000000	0.05858	0.827000	0.32855	0.594000	0.36715	-0.340000	0.07821	0.795000	0.33922	0.591000	0.81541	GGA		0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		6	110	0	0	0	1	0	6	110				
FRY	10129	broad.mit.edu	37	13	32605977	32605977	+	Silent	SNP	A	A	G			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr13:32605977A>G	ENST00000380250.3	+	1	541	c.45A>G	c.(43-45)aaA>aaG	p.K15K	FRY_ENST00000463566.1_3'UTR|FRY-AS1_ENST00000428419.1_RNA	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	15						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAGTATCAAATATTTACTGA	0.468																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(43-45)aaA>aaG		furry homolog (Drosophila)							42.0	41.0	41.0					13																	32605977		1852	4102	5954	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32605977A>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.45A>G	13.37:g.32605977A>G						FRY_ENST00000463566.1_3'UTR	p.K15K	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	1	541	+		Lung SC(185;0.0271)	15					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.45A>G	CCDS41875.1																																																																																				0.468	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		23	33	0	0	0	1	0	23	33				
AIFM3	150209	broad.mit.edu	37	22	21330015	21330015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr22:21330015G>A	ENST00000399167.2	+	9	995	c.755G>A	c.(754-756)aGg>aAg	p.R252K	AIFM3_ENST00000335375.5_Missense_Mutation_p.R240K|AIFM3_ENST00000399163.2_Missense_Mutation_p.R252K|AIFM3_ENST00000405089.1_Missense_Mutation_p.R258K|AIFM3_ENST00000440238.2_Missense_Mutation_p.R252K|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Missense_Mutation_p.R252K	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	252					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGGCCCTGAGGCCCAAGGAG	0.617																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(754-756)aGg>aAg		apoptosis-inducing factor, mitochondrion-associated, 3							74.0	70.0	71.0					22																	21330015		2203	4300	6503	SO:0001583	missense	150209							g.chr22:21330015G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.755G>A	22.37:g.21330015G>A	ENSP00000382120:p.Arg252Lys					AIFM3_ENST00000333607.6_Missense_Mutation_p.R252K|AIFM3_ENST00000335375.5_Missense_Mutation_p.R240K|AIFM3_ENST00000405089.1_Missense_Mutation_p.R258K|AIFM3_ENST00000399163.2_Missense_Mutation_p.R252K|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.R252K	p.R252K	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	995	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.755G>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282984	0.95489	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000434714;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.65	5.65	0.86999	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.997;0.997;0.999	T	0.66106	-0.6006	10	0.56958	D	0.05	-14.7743	15.2262	0.73354	0.0:0.0:1.0:0.0	.	240;240;258;252;252	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	K	252;252;252;258;240;252;252	ENSP00000382120:R252K;ENSP00000382116:R252K;ENSP00000399657:R252K;ENSP00000385800:R258K;ENSP00000335369:R240K;ENSP00000390798:R252K;ENSP00000327671:R252K	ENSP00000327671:R252K	R	+	2	0	AIFM3	19660015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.343000	0.90052	2.667000	0.90743	0.561000	0.74099	AGG		0.617	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		53	131	0	0	0	1	0	53	131				
CNOT3	4849	broad.mit.edu	37	19	54646885	54646885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr19:54646885C>T	ENST00000406403.1	+	2	1659	c.56C>T	c.(55-57)tCc>tTc	p.S19F	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.S19F			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	19					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGAAGGTGTCCGAGGGCGTG	0.547																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(55-57)tCc>tTc		CCR4-NOT transcription complex, subunit 3							176.0	176.0	176.0					19																	54646885		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646885C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.56C>T	19.37:g.54646885C>T	ENSP00000383954:p.Ser19Phe					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.S19F	p.S19F			O75175	CNOT3_HUMAN			2	1659	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		19					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.56C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248356	0.80024	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.46451	0.87;0.87	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.126528	0.52532	D	0.000063	T	0.54319	0.1851	M	0.64997	1.995	0.80722	D	1	D;P	0.54397	0.966;0.857	P;P	0.52109	0.69;0.505	T	0.59473	-0.7448	10	0.72032	D	0.01	-28.8516	17.5375	0.87837	0.0:1.0:0.0:0.0	.	19;19	B7Z6J7;O75175	.;CNOT3_HUMAN	F	19	ENSP00000221232:S19F;ENSP00000383954:S19F	ENSP00000221232:S19F	S	+	2	0	CNOT3	59338697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.234000	0.65343	2.512000	0.84698	0.655000	0.94253	TCC		0.547	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		78	89	0	0	0	1	0	78	89				
FBN1	2200	broad.mit.edu	37	15	48764802	48764802	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:48764802G>A	ENST00000316623.5	-	35	4737	c.4282C>T	c.(4282-4284)Cgc>Tgc	p.R1428C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1428	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATTCACAGCGGTATCCTCCT	0.542																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(4282-4284)Cgc>Tgc		fibrillin 1							144.0	133.0	137.0					15																	48764802		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48764802G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4282C>T	15.37:g.48764802G>A	ENSP00000325527:p.Arg1428Cys						p.R1428C	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	35	4737	-		all_lung(180;0.00279)	1428			EGF-like 24; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4282C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994253	0.93167	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.92545	-3.06	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96462	0.9342	10	0.72032	D	0.01	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	1428	P35555	FBN1_HUMAN	C	1428;318	ENSP00000325527:R1428C	ENSP00000325527:R1428C	R	-	1	0	FBN1	46552094	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.928000	0.87587	2.747000	0.94245	0.650000	0.86243	CGC		0.542	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	175	0	0	0	1	0	6	175				
TNFRSF25	8718	broad.mit.edu	37	1	6521665	6521665	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:6521665G>C	ENST00000356876.3	-	10	1170	c.1083C>G	c.(1081-1083)atC>atG	p.I361M	TNFRSF25_ENST00000348333.3_Missense_Mutation_p.I316M|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.I178M|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.I370M|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.I324M|TNFRSF25_ENST00000461703.2_5'Flank	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	361	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCACGGCTTCGATCTCTGCCT	0.697																																						ENST00000377782.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10						c.(1108-1110)atC>atG		tumor necrosis factor receptor superfamily, member 25							21.0	22.0	22.0					1																	6521665		2202	4299	6501	SO:0001583	missense	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6521665G>C	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.1083C>G	1.37:g.6521665G>C	ENSP00000349341:p.Ile361Met					TNFRSF25_ENST00000356876.3_Missense_Mutation_p.I361M|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.I316M|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.I324M|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.I178M	p.I370M	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	10	1177	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	361		R -> L (in dbSNP:rs1064590).	Death.		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	ENST00000356876.3	37	c.1110C>G	CCDS71.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160265	0.57368	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28	5.14	2.23	0.28157	Death (3);DEATH-like (2);	0.390634	0.18144	U	0.150304	D	0.96923	0.8995	L	0.56124	1.755	0.38458	D	0.947131	D;D;D;D;D;D	0.89917	0.992;0.996;0.997;0.997;0.997;1.0	P;P;D;D;D;D	0.91635	0.89;0.879;0.91;0.946;0.91;0.999	D	0.94641	0.7830	10	0.87932	D	0	-2.8243	3.7315	0.08495	0.3641:0.0:0.4716:0.1643	.	370;316;324;361;362;178	Q93038-11;Q93038-9;Q93038-10;Q93038;Q93038-2;Q93038-8	.;.;.;TNR25_HUMAN;.;.	M	361;370;324;178;316	ENSP00000349341:I361M;ENSP00000367013:I370M;ENSP00000337713:I324M;ENSP00000326762:I178M;ENSP00000314451:I316M	ENSP00000314451:I316M	I	-	3	3	TNFRSF25	6444252	0.907000	0.30839	0.999000	0.59377	0.979000	0.70002	-0.141000	0.10327	0.179000	0.19938	0.650000	0.86243	ATC		0.697	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		24	23	0	0	0	1	0	24	23				
ZCCHC11	23318	broad.mit.edu	37	1	52902559	52902559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:52902559G>A	ENST00000371544.3	-	26	4289	c.4027C>T	c.(4027-4029)Cga>Tga	p.R1343*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1344*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1343					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGGAGGTCTCGGGGGTCAAGA	0.458																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4027-4029)Cga>Tga		zinc finger, CCHC domain containing 11							192.0	191.0	191.0					1																	52902559		2203	4300	6503	SO:0001587	stop_gained	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52902559G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4027C>T	1.37:g.52902559G>A	ENSP00000360599:p.Arg1343*					ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1344*	p.R1343*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			26	4289	-			1343					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	c.4027C>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.891246|8.891246	0.98992|0.98992	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000474453|ENST00000257177;ENST00000371544;ENST00000531722	.|.	.|.	.|.	3.99|3.99	3.99|3.99	0.46301|0.46301	.|.	.|0.172078	.|0.27696	.|N	.|0.018226	T|.	0.48150|.	0.1484|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26643|.	-1.0097|.	5|.	0.18710|0.11485	T|T	0.47|0.65	.|.	11.9059|11.9059	0.52713|0.52713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	188|1344;1343;181	.|.	ENSP00000433711:P188L|ENSP00000257177:R1344X	P|R	-|-	2|1	0|2	ZCCHC11|ZCCHC11	52675147|52675147	0.999000|0.999000	0.42202|0.42202	0.878000|0.878000	0.34440|0.34440	0.411000|0.411000	0.31082|0.31082	1.510000|1.510000	0.35790|0.35790	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.458	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		74	118	0	0	0	1	0	74	118				
MROH2B	133558	broad.mit.edu	37	5	41058182	41058182	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr5:41058182C>A	ENST00000399564.4	-	7	1189	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	247																	ACATGGAAATCAATCTCTTTG	0.532																																						ENST00000399564.4																			0											c.(739-741)Gat>Tat		maestro heat-like repeat family member 2B							93.0	91.0	92.0					5																	41058182		1901	4111	6012	SO:0001583	missense	133558							g.chr5:41058182C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.739G>T	5.37:g.41058182C>A	ENSP00000382476:p.Asp247Tyr					MROH2B_ENST00000506092.2_5'UTR	p.D247Y	NM_173489.4	NP_775760.3					7	1189	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.739G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719343	0.68844	.	.	ENSG00000171495	ENST00000399564	T	0.06294	3.32	5.27	5.27	0.74061	Armadillo-type fold (1);	0.000000	0.53938	D	0.000050	T	0.20292	0.0488	L	0.54323	1.7	0.38347	D	0.944234	D	0.89917	1.0	D	0.91635	0.999	T	0.00243	-1.1884	10	0.56958	D	0.05	.	14.2725	0.66159	0.0:1.0:0.0:0.0	.	247	Q7Z745	HTRB2_HUMAN	Y	247	ENSP00000382476:D247Y	ENSP00000382476:D247Y	D	-	1	0	HEATR7B2	41093939	0.992000	0.36948	0.995000	0.50966	0.996000	0.88848	3.662000	0.54510	2.732000	0.93576	0.650000	0.86243	GAT		0.532	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		13	56	1	0	0.00185496	1	0.00185496	13	56				
RHAG	6005	broad.mit.edu	37	6	49585873	49585873	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:49585873C>T	ENST00000371175.4	-	3	426	c.400G>A	c.(400-402)Gga>Aga	p.G134R	RHAG_ENST00000229810.7_Missense_Mutation_p.G134R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	134					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTCGTTTTTCCCAGGACAGCT	0.393																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(400-402)Gga>Aga		Rh-associated glycoprotein							91.0	90.0	90.0					6																	49585873		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49585873C>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.400G>A	6.37:g.49585873C>T	ENSP00000360217:p.Gly134Arg					RHAG_ENST00000229810.7_Missense_Mutation_p.G134R	p.G134R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			3	426	-	Lung NSC(77;0.0255)		134					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.400G>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785740	0.90282	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.26373	1.74;1.74	5.67	4.81	0.61882	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74426	-0.3669	10	0.87932	D	0	-13.5313	14.0259	0.64586	0.0:0.9273:0.0:0.0726	.	134;134;134	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	R	134	ENSP00000360217:G134R;ENSP00000229810:G134R	ENSP00000229810:G134R	G	-	1	0	RHAG	49693832	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.776000	0.85560	1.542000	0.49330	0.655000	0.94253	GGA		0.393	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			26	47	0	0	0	1	0	26	47				
TTN	7273	broad.mit.edu	37	2	179445326	179445326	+	Silent	SNP	C	C	T	rs574543857		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr2:179445326C>T	ENST00000591111.1	-	267	62081	c.61857G>A	c.(61855-61857)gaG>gaA	p.E20619E	TTN_ENST00000589042.1_Silent_p.E22260E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.E19692E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.E13387E|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.E13195E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.E13320E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20619					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)			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)			CAAGTTCTCCCTCAGGTGGAA	0.378																																						ENST00000589042.1																			0				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.(66778-66780)gaG>gaA		titin																																				SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179445326C>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.61857G>A	2.37:g.179445326C>T						TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.E13320E|TTN_ENST00000591111.1_Silent_p.E20619E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.E19692E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.E13387E|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E13195E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.E22260E	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)		317	67004	-			20619			Fibronectin type-III 61.		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	Silent	SNP	ENST00000591111.1	37	c.66780G>A																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	47	0	0	0	1	0	16	47				
PLEKHA8	84725	broad.mit.edu	37	7	30113727	30113727	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr7:30113727G>C	ENST00000449726.1	+	13	1691	c.1341G>C	c.(1339-1341)tgG>tgC	p.W447C	PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.W447C|PLEKHA8_ENST00000258679.7_Intron|AC007285.7_ENST00000433088.1_RNA	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	447	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						ACCATGGCTGGGTAGTTCGAG	0.408																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1339-1341)tgG>tgC		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							76.0	71.0	73.0					7																	30113727		876	1991	2867	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30113727G>C	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1341G>C	7.37:g.30113727G>C	ENSP00000397947:p.Trp447Cys					PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.W447C|PLEKHA8_ENST00000258679.7_Intron|AC007285.7_ENST00000433088.1_RNA	p.W447C	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			13	1691	+			447					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1341G>C	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389424	0.82902	.	.	ENSG00000106086	ENST00000449726;ENST00000396257;ENST00000440706	.	.	.	5.77	5.77	0.91146	Glycolipid transfer protein domain (3);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.86513	0.1811	9	0.87932	D	0	-20.0708	18.9257	0.92544	0.0:0.0:1.0:0.0	.	447;447;447	Q96JA3-2;Q96JA3;B4DH00	.;PKHA8_HUMAN;.	C	447;447;473	.	ENSP00000379556:W447C	W	+	3	0	PLEKHA8	30080252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.163000	0.94750	2.885000	0.99019	0.655000	0.94253	TGG		0.408	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		28	65	0	0	0	1	0	28	65				
SCO2	9997	broad.mit.edu	37	22	50962164	50962164	+	Missense_Mutation	SNP	A	A	G	rs150742660		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr22:50962164A>G	ENST00000543927.1	-	2	883	c.677T>C	c.(676-678)aTt>aCt	p.I226T	SCO2_ENST00000395693.3_Missense_Mutation_p.I226T|SCO2_ENST00000535425.1_Missense_Mutation_p.I226T|CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000252785.3_Missense_Mutation_p.I226T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	226	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGATGGCAATGGAGTGGTC	0.587																																						ENST00000543927.1																			0				endometrium(1)|lung(1)	2						c.(676-678)aTt>aCt		SCO2 cytochrome c oxidase assembly protein		A	THR/ILE,THR/ILE,THR/ILE,,THR/ILE,	0,4406		0,0,2203	220.0	187.0	198.0		677,677,677,,677,	5.0	1.0	22	dbSNP_134	198	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,utr-3,missense,utr-3	SCO2,NCAPH2	NM_001169109.1,NM_001169110.1,NM_001169111.1,NM_001185011.1,NM_005138.2,NM_152299.3	89,89,89,,89,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,,possibly-damaging,	226/267,226/267,226/267,,226/267,	50962164	1,13005	2203	4300	6503	SO:0001583	missense	9997				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr22:50962164A>G	AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"""Mitochondrial respiratory chain complex assembly factors"""	10604	protein-coding gene	gene with protein product		604272	"""SCO (cytochrome oxidase deficient, yeast) homolog 2"", ""SCO cytochrome oxidase deficient homolog 2 (yeast)"", ""myopia 6"""	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.677T>C	22.37:g.50962164A>G	ENSP00000444433:p.Ile226Thr					SCO2_ENST00000252785.3_Missense_Mutation_p.I226T|SCO2_ENST00000395693.3_Missense_Mutation_p.I226T|SCO2_ENST00000535425.1_Missense_Mutation_p.I226T	p.I226T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	883	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	226			Thioredoxin.		Q3T1B5|Q9UK87	Missense_Mutation	SNP	ENST00000543927.1	37	c.677T>C	CCDS14095.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556286	0.45487	0.0	1.16E-4	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	4.97	4.97	0.65823	Thioredoxin-like fold (3);	0.074767	0.49305	D	0.000146	D	0.89525	0.6740	L	0.42529	1.33	0.53688	D	0.999973	D	0.55800	0.973	D	0.64687	0.928	D	0.89107	0.3493	10	0.44086	T	0.13	-10.116	12.9066	0.58156	1.0:0.0:0.0:0.0	.	226	O43819	SCO2_HUMAN	T	226	ENSP00000379046:I226T;ENSP00000444433:I226T;ENSP00000444242:I226T;ENSP00000252785:I226T	ENSP00000252785:I226T	I	-	2	0	SCO2	49309030	0.992000	0.36948	0.992000	0.48379	0.232000	0.25224	6.168000	0.71908	2.012000	0.59069	0.523000	0.50628	ATT		0.587	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317091.1	NM_005138		66	130	0	0	0	1	0	66	130				
SYNM	23336	broad.mit.edu	37	15	99669671	99669671	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:99669671A>G	ENST00000560674.1	+	4	717	c.248A>G	c.(247-249)aAt>aGt	p.N83S	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.N368S|SYNM_ENST00000328642.7_Missense_Mutation_p.N368S|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	369	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCAAGTTTCAATCACAGCTCG	0.468																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1102-1104)aAt>aGt		synemin, intermediate filament protein							158.0	158.0	158.0					15																	99669671		1918	4142	6060	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99669671A>G	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.248A>G	15.37:g.99669671A>G	ENSP00000453040:p.Asn83Ser					RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.N368S|SYNM_ENST00000560674.1_Missense_Mutation_p.N83S	p.N368S	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	1223	+			369			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1103A>G		.	.	.	.	.	.	.	.	.	.	A	5.457	0.269392	0.10349	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.82167	-1.55;-1.58	4.75	-0.246	0.13022	.	.	.	.	.	T	0.69070	0.3070	.	.	.	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.005	T	0.53099	-0.8486	8	0.36615	T	0.2	.	4.1899	0.10416	0.4513:0.0:0.3877:0.1611	.	369;368	O15061;C9JIE4	SYNEM_HUMAN;.	S	368	ENSP00000336775:N368S;ENSP00000330469:N368S	ENSP00000330469:N368S	N	+	2	0	SYNM	97487194	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.385000	0.07379	-0.300000	0.08895	-0.480000	0.04831	AAT		0.468	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		8	288	0	0	0	1	0	8	288				
SLC22A6	9356	broad.mit.edu	37	11	62744732	62744732	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr11:62744732C>A	ENST00000377871.3	-	9	1755	c.1489G>T	c.(1489-1491)Gcc>Tcc	p.A497S	SLC22A6_ENST00000360421.4_Missense_Mutation_p.A497S|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000537349.1_5'Flank	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	497					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A497T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACAGCGCTGGCGGCCACAGGA	0.642																																						ENST00000377871.3																			1	Substitution - Missense(1)	p.A497T(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1489-1491)Gcc>Tcc		solute carrier family 22 (organic anion transporter), member 6							77.0	72.0	74.0					11																	62744732		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62744732C>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1489G>T	11.37:g.62744732C>A	ENSP00000367102:p.Ala497Ser					SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A497S	p.A497S	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			9	1755	-			497					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.1489G>T	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	5.750	0.322781	0.10900	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.60548	0.18;0.18	4.48	4.48	0.54585	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.364178	0.30771	N	0.008915	T	0.47655	0.1457	L	0.39245	1.2	0.80722	D	1	P;B	0.35493	0.505;0.449	B;B	0.37091	0.241;0.156	T	0.38436	-0.9661	10	0.12103	T	0.63	.	14.7091	0.69215	0.0:1.0:0.0:0.0	.	497;497	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	S	497;476;497	ENSP00000353597:A497S;ENSP00000367102:A497S	ENSP00000353597:A497S	A	-	1	0	SLC22A6	62501308	0.001000	0.12720	0.949000	0.38748	0.144000	0.21451	0.115000	0.15540	2.298000	0.77334	0.561000	0.74099	GCC		0.642	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		21	107	1	0	2.70639e-06	1	2.96171e-06	21	107				
WBP11P1	441818	broad.mit.edu	37	18	30091975	30091975	+	RNA	SNP	C	C	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr18:30091975C>T	ENST00000567636.1	+	0	350					NR_003558.1				WW domain binding protein 11 pseudogene 1																		ACAGATGATCCGAGACATGGA	0.413																																						ENST00000567636.1																			0																																																			0							g.chr18:30091975C>T	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091975C>T								NR_003558.1						0	350	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.413	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			32	59	0	0	0	1	0	32	59				
NT5C1A	84618	broad.mit.edu	37	1	40131320	40131320	+	Silent	SNP	A	A	T			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:40131320A>T	ENST00000235628.1	-	3	305	c.306T>A	c.(304-306)gcT>gcA	p.A102A		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	102					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCTCCAGAGCCTGGAAAG	0.577																																						ENST00000235628.1																			0				breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15						c.(304-306)gcT>gcA		5'-nucleotidase, cytosolic IA							57.0	58.0	58.0					1																	40131320		2203	4300	6503	SO:0001819	synonymous_variant	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131320A>T	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.306T>A	1.37:g.40131320A>T							p.A102A	NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	305	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	102					Q3SYB9|Q5TG98|Q9BWT8	Silent	SNP	ENST00000235628.1	37	c.306T>A	CCDS440.1																																																																																				0.577	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		4	86	0	0	0	1	0	4	86				
PIK3R1	5295	broad.mit.edu	37	5	67591247	67591249	+	Splice_Site	DEL	GGT	GGT	-			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr5:67591247_67591249delGGT	ENST00000521381.1	+	14	2361_2363	c.1745_1747delGGT	c.(1744-1749)aggtgg>agg	p.W583del	PIK3R1_ENST00000396611.1_Splice_Site_p.W583del|PIK3R1_ENST00000274335.5_Splice_Site_p.W583del|PIK3R1_ENST00000320694.8_Splice_Site_p.W283del|PIK3R1_ENST00000521657.1_Splice_Site_p.W583del|PIK3R1_ENST00000523872.1_Splice_Site_p.W220del|PIK3R1_ENST00000336483.5_Splice_Site_p.W313del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	583					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTGTTTTTCAGGTGGTTGACTCA	0.365			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		10	Complex - deletion inframe(4)|Unknown(4)|Whole gene deletion(1)|Deletion - Frameshift(1)	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)	large_intestine(4)|ovary(2)|central_nervous_system(2)|lung(1)|breast(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e14-1		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591247_67591249delGGT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1746-1GGT>-	5.37:g.67591250_67591252delGGT		TCGA GBM(4;<1E-08)				PIK3R1_ENST00000274335.5_Splice_Site_p.R582_splice|PIK3R1_ENST00000320694.8_Splice_Site_p.R282_splice|PIK3R1_ENST00000523872.1_Splice_Site_p.R219_splice|PIK3R1_ENST00000336483.5_Splice_Site_p.R312_splice|PIK3R1_ENST00000396611.1_Splice_Site_p.R582_splice|PIK3R1_ENST00000521657.1_Splice_Site_p.R582_splice	p.R582_splice	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2361_2363	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	582					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	DEL	ENST00000521381.1	37	c.1745_splice	CCDS3993.1																																																																																				0.365	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	In_Frame_Del	44	90						44	90	---	---	---	---
TDP2	51567	broad.mit.edu	37	6	24651110	24651110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:24651110delC	ENST00000378198.4	-	7	1165	c.995delG	c.(994-996)cgafs	p.R332fs	TDP2_ENST00000341060.3_Frame_Shift_Del_p.R274fs|TDP2_ENST00000545995.1_Frame_Shift_Del_p.R362fs			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	332					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GTCCAAACTTCGGGGAATAAT	0.383								Direct reversal of damage																														ENST00000341060.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(820-822)cafs	Direct reversal of damage	tyrosyl-DNA phosphodiesterase 2							83.0	80.0	81.0					6																	24651110		2203	4300	6503	SO:0001589	frameshift_variant	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24651110delC	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.995delG	6.37:g.24651110delC	ENSP00000367440:p.Arg332fs					TDP2_ENST00000545995.1_Frame_Shift_Del_p.R362fs|TDP2_ENST00000378198.4_Frame_Shift_Del_p.R332fs	p.R274fs			O95551	TYDP2_HUMAN			6	1216	-			332					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Frame_Shift_Del	DEL	ENST00000378198.4	37	c.821delG	CCDS4557.1																																																																																				0.383	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			59	98						59	98	---	---	---	---
CCDC146	57639	broad.mit.edu	37	7	76916122	76916122	+	Frame_Shift_Del	DEL	A	A	-	rs572871866		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr7:76916122delA	ENST00000285871.4	+	16	2283	c.2156delA	c.(2155-2157)cagfs	p.Q719fs	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Frame_Shift_Del_p.Q433fs	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	719										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TAGTTTTCACAGTGTACAGAC	0.373																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(2155-2157)cgfs		coiled-coil domain containing 146							85.0	95.0	92.0					7																	76916122		2203	4300	6503	SO:0001589	frameshift_variant	57639							g.chr7:76916122delA	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2156delA	7.37:g.76916122delA	ENSP00000285871:p.Gln719fs					CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Frame_Shift_Del_p.Q433fs	p.Q719fs	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			16	2283	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	719					A8K8X6|Q9P223	Frame_Shift_Del	DEL	ENST00000285871.4	37	c.2156delA	CCDS34671.1																																																																																				0.373	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		59	116						59	116	---	---	---	---
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	lincRNA	DEL	TCC	TCC	-	rs373116664		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr11:63533335_63533337delTCC	ENST00000546282.2	-	0	738				C11orf95_ENST00000433688.1_lincRNA																							ctcctcttcttcctcctcctcct	0.67																																						ENST00000433688.1																			0													chromosome 11 open reading frame 95				177,2927		13,151,1388						-8.9	0.0			19	448,6300		26,396,2952	no	coding	C11orf95	NM_001144936.1		39,547,4340	A1A1,A1R,RR		6.639,5.7023,6.3439				625,9227						65998					intracellular	zinc ion binding	g.chr11:63533335_63533337delTCC																													11.37:g.63533344_63533346delTCC										C9JLR9	CK095_HUMAN			0	597_599	-									RNA	DEL	ENST00000546282.2	37																																																																																						0.670	RP11-466C23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000396567.2			2	4						2	4	---	---	---	---
THRA	7067	broad.mit.edu	37	17	38245687	38245690	+	Intron	DEL	TCTT	TCTT	-			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr17:38245687_38245690delTCTT	ENST00000264637.4	+	9	1690				THRA_ENST00000546243.1_Frame_Shift_Del_p.VF404fs|THRA_ENST00000394121.4_Intron|THRA_ENST00000450525.2_Frame_Shift_Del_p.VF404fs|THRA_ENST00000584985.1_Intron	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha						cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCCTCGAGGTCTTTGAGGATCAG	0.637																																						ENST00000450525.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1210-1215)gtfs		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)																																			SO:0001627	intron_variant	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38245687_38245690delTCTT	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1110+101TCTT>-	17.37:g.38245687_38245690delTCTT						THRA_ENST00000394121.4_Intron|THRA_ENST00000546243.1_Frame_Shift_Del_p.VF404fs|THRA_ENST00000264637.4_Intron|THRA_ENST00000584985.1_Intron	p.VF404fs	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			9	1702_1705	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	0					A8K3B5|P21205|Q8N6A1|Q96H73	Frame_Shift_Del	DEL	ENST00000264637.4	37	c.1211_1214delTCTT	CCDS11360.1																																																																																				0.637	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			22	50						22	50	---	---	---	---
