#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	180	0	0	0	0.004672	0	3	180				
ANKRD32	84250	broad.mit.edu	37	5	94022316	94022316	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr5:94022316T>C	ENST00000265140.5	+	16	2433	c.2014T>C	c.(2014-2016)Ttt>Ctt	p.F672L		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	672						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATTTGCTCCTTTTCCTCCTC	0.383																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2014-2016)Ttt>Ctt		ankyrin repeat domain 32							174.0	174.0	174.0					5																	94022316		2203	4300	6503	SO:0001583	missense	84250							g.chr5:94022316T>C	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2014T>C	5.37:g.94022316T>C	ENSP00000265140:p.Phe672Leu						p.F672L	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	16	2433	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	672					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2014T>C	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698767	0.48307	.	.	ENSG00000133302	ENST00000265140	T	0.37915	1.17	5.63	4.47	0.54385	.	0.176987	0.45867	D	0.000324	T	0.27027	0.0662	L	0.47716	1.5	0.35262	D	0.779696	B	0.15719	0.014	B	0.13407	0.009	T	0.28808	-1.0032	10	0.33940	T	0.23	.	4.8329	0.13449	0.2753:0.0839:0.0:0.6408	.	672	Q9BQI6	ANR32_HUMAN	L	672	ENSP00000265140:F672L	ENSP00000265140:F672L	F	+	1	0	ANKRD32	94048072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.822000	0.48073	2.258000	0.74832	0.533000	0.62120	TTT		0.383	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		3	150	0	0	0	0.004672	0	3	150				
CYLD	1540	broad.mit.edu	37	16	50815182	50815182	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr16:50815182A>T	ENST00000427738.3	+	9	1749	c.1544A>T	c.(1543-1545)gAt>gTt	p.D515V	RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D515V|CYLD_ENST00000540145.1_Missense_Mutation_p.D515V|CYLD_ENST00000566206.1_Missense_Mutation_p.D512V|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000569418.1_Missense_Mutation_p.D512V|CYLD_ENST00000564326.1_Missense_Mutation_p.D512V|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000398568.2_Missense_Mutation_p.D512V			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	515	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGCTGTACGGATGGAACCTTC	0.448			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1543-1545)gAt>gTt		cylindromatosis (turban tumor syndrome)							109.0	106.0	107.0					16																	50815182		1944	4150	6094	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50815182A>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1544A>T	16.37:g.50815182A>T	ENSP00000392025:p.Asp515Val					CYLD_ENST00000564326.1_Missense_Mutation_p.D512V|CYLD_ENST00000569418.1_Missense_Mutation_p.D512V|CYLD_ENST00000427738.3_Missense_Mutation_p.D515V|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.D512V|CYLD_ENST00000398568.2_Missense_Mutation_p.D512V|CYLD_ENST00000311559.9_Missense_Mutation_p.D515V	p.D515V			Q9NQC7	CYLD_HUMAN			10	1959	+		all_cancers(37;0.0156)	515			CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.1544A>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.629941	0.67015	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D	0.94931	-3.56;-3.56;-3.56	6.02	6.02	0.97574	Cytoskeleton-associated protein, Gly-rich domain (4);	0.041396	0.85682	D	0.000000	D	0.98012	0.9345	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.99050	1.0827	10	0.87932	D	0	-27.1783	16.5446	0.84426	1.0:0.0:0.0:0.0	.	512;515;512;515	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	V	515;515;512;512	ENSP00000445447:D515V;ENSP00000308928:D515V;ENSP00000381574:D512V	ENSP00000308928:D515V	D	+	2	0	CYLD	49372683	1.000000	0.71417	0.901000	0.35422	0.227000	0.25037	8.904000	0.92590	2.311000	0.77944	0.533000	0.62120	GAT		0.448	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			42	31	0	0	0	0.008740	0	42	31				
BTC	685	broad.mit.edu	37	4	75681110	75681110	+	Silent	SNP	C	C	T			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr4:75681110C>T	ENST00000395743.3	-	3	600	c.240G>A	c.(238-240)ggG>ggA	p.G80G		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	80	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			AGCGGCATCTCCCTTTGATGC	0.532																																						ENST00000395743.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(238-240)ggG>ggA		betacellulin							207.0	187.0	194.0					4																	75681110		2203	4300	6503	SO:0001819	synonymous_variant	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75681110C>T	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.240G>A	4.37:g.75681110C>T							p.G80G	NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	Lung(101;0.219)		3	600	-			80			EGF-like.		Q96F48	Silent	SNP	ENST00000395743.3	37	c.240G>A	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253215	0.22965	.	.	ENSG00000174808	ENST00000512743	T	0.73047	-0.71	4.69	1.93	0.25924	.	0.055129	0.64402	N	0.000001	T	0.73164	0.3552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70868	-0.4755	7	0.87932	D	0	-25.3606	6.7221	0.23336	0.0:0.6804:0.1473:0.1724	.	.	.	.	E	59	ENSP00000421747:G59E	ENSP00000421747:G59E	G	-	2	0	BTC	75900134	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	0.542000	0.23222	0.253000	0.21552	-0.137000	0.14449	GGA		0.532	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			47	85	0	0	0	0.003610	0	47	85				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	137	0	0	0	0.004672	0	3	137				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	30	0	0	0	0.000248	0	3	30				
ERAS	3266	broad.mit.edu	37	X	48687628	48687628	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chrX:48687628G>A	ENST00000338270.1	+	1	346	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	32					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CAGGCACGCCGCAGGGATGTT	0.657																																						ENST00000338270.1																			0				endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						c.(94-96)cGc>cAc		ES cell expressed Ras							26.0	21.0	23.0					X																	48687628		2202	4300	6502	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48687628G>A	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.95G>A	X.37:g.48687628G>A	ENSP00000339136:p.Arg32His						p.R32H	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN			1	346	+			32						Missense_Mutation	SNP	ENST00000338270.1	37	c.95G>A	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	g	12.67	2.008876	0.35415	.	.	ENSG00000187682	ENST00000338270	T	0.71461	-0.57	4.01	1.0	0.19881	.	1.333250	0.05551	N	0.567526	T	0.47563	0.1452	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.33420	-0.9869	10	0.44086	T	0.13	.	2.15	0.03797	0.1401:0.2386:0.4621:0.1592	.	32	Q7Z444	RASE_HUMAN	H	32	ENSP00000339136:R32H	ENSP00000339136:R32H	R	+	2	0	ERAS	48572572	0.001000	0.12720	0.000000	0.03702	0.173000	0.22820	0.736000	0.26130	0.074000	0.16767	0.540000	0.68198	CGC		0.657	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		5	17	0	0	0	0.000602	0	5	17				
ZNF561	93134	broad.mit.edu	37	19	9721287	9721287	+	Silent	SNP	C	C	A			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr19:9721287C>A	ENST00000302851.3	-	6	1413	c.1050G>T	c.(1048-1050)tcG>tcT	p.S350S	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000424629.1_Silent_p.S281S|ZNF561_ENST00000354661.4_Silent_p.S214S	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TAGAAAGGCCCGAGTACTGAG	0.418																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(1048-1050)tcG>tcT		zinc finger protein 561							135.0	124.0	128.0					19																	9721287		2203	4300	6503	SO:0001819	synonymous_variant	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721287C>A	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1050G>T	19.37:g.9721287C>A						ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Silent_p.S281S|ZNF561_ENST00000354661.4_Silent_p.S214S	p.S350S	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			6	1413	-			350					B4E2Q8|Q6PJS0	Silent	SNP	ENST00000302851.3	37	c.1050G>T	CCDS12216.2																																																																																				0.418	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		4	137	1	0	0.000602214	0.000602	0.00169083	4	137				
BCLAF1	9774	broad.mit.edu	37	6	136599279	136599279	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr6:136599279A>G	ENST00000531224.1	-	4	992	c.740T>C	c.(739-741)aTg>aCg	p.M247T	BCLAF1_ENST00000353331.4_Missense_Mutation_p.M245T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.M247T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.M245T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.M245T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.M247T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	247					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGTACTGAGCATGGGAGCATC	0.453																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(739-741)aTg>aCg		BCL2-associated transcription factor 1							158.0	151.0	153.0					6																	136599279		2203	4298	6501	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599279A>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.740T>C	6.37:g.136599279A>G	ENSP00000435210:p.Met247Thr					BCLAF1_ENST00000527536.1_Missense_Mutation_p.M247T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.M245T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.M245T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.M247T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.M245T	p.M247T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	992	-	Colorectal(23;0.24)		247					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.740T>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848257	0.32699	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.82	5.82	0.92795	.	0.076767	0.56097	D	0.000031	T	0.04048	0.0113	N	0.08118	0	0.80722	D	1	B;B;B;B	0.13145	0.002;0.007;0.002;0.002	B;B;B;B	0.10450	0.005;0.005;0.005;0.005	T	0.27088	-1.0084	10	0.66056	D	0.02	-0.4149	16.182	0.81915	1.0:0.0:0.0:0.0	.	245;245;247;247	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	T	247;245;247;247;245;245;247	ENSP00000435210:M247T;ENSP00000229446:M245T;ENSP00000435441:M247T;ENSP00000436501:M247T;ENSP00000434826:M245T;ENSP00000376159:M245T;ENSP00000431734:M247T	ENSP00000229446:M245T	M	-	2	0	BCLAF1	136640972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.067000	0.64357	2.222000	0.72286	0.528000	0.53228	ATG		0.453	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		20	102	0	0	0	0.007413	0	20	102				
GDF10	2662	broad.mit.edu	37	10	48429292	48429292	+	Silent	SNP	G	G	A			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr10:48429292G>A	ENST00000224605.2	-	2	859	c.594C>T	c.(592-594)cgC>cgT	p.R198R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	198					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCCACAGGCCGCGCGGTGGGG	0.721																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(592-594)cgC>cgT		growth differentiation factor 10							10.0	16.0	14.0					10																	48429292		2160	4224	6384	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429292G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.594C>T	10.37:g.48429292G>A							p.R198R	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	859	-			198					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.594C>T	CCDS7220.1																																																																																				0.721	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		24	24	0	0	0	0.003954	0	24	24				
EMR2	30817	broad.mit.edu	37	19	14877869	14877869	+	Silent	SNP	G	G	A	rs138601089	byFrequency	TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr19:14877869G>A	ENST00000315576.3	-	6	859	c.408C>T	c.(406-408)tgC>tgT	p.C136C	EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000601345.1_Silent_p.C136C|EMR2_ENST00000596991.2_Silent_p.C136C|EMR2_ENST00000594294.1_Silent_p.C136C|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000392965.3_Silent_p.C136C|EMR2_ENST00000392967.2_Silent_p.C136C|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000346057.1_Silent_p.C136C	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	136	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGGTGTTGACGCAGGTGCCGT	0.582													G|||	5	0.000998403	0.0038	0.0	5008	,	,		12886	0.0		0.0	False		,,,				2504	0.0					ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(406-408)tgC>tgT		egf-like module containing, mucin-like, hormone receptor-like 2		G	,,,,,,	5,4401	8.1+/-20.4	0,5,2198	68.0	66.0	67.0		408,408,,,408,408,	-2.8	0.0	19	dbSNP_134	67	0,8580		0,0,4290	no	coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,coding-synonymous,intron	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	,,,,,,	0,5,6488	AA,AG,GG		0.0,0.1135,0.0385	,,,,,,	136/824,136/775,,,136/813,136/764,	14877869	5,12981	2203	4290	6493	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14877869G>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.408C>T	19.37:g.14877869G>A						EMR2_ENST00000346057.1_Silent_p.C136C|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000594294.1_Silent_p.C136C|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000601345.1_Silent_p.C136C|EMR2_ENST00000392965.3_Silent_p.C136C|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000596991.2_Silent_p.C136C|EMR2_ENST00000392967.2_Silent_p.C136C|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000353005.1_Intron	p.C136C	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			6	859	-			136			EGF-like 3; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.408C>T	CCDS32935.1																																																																																				0.582	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			6	7	0	0	0	0.006214	0	6	7				
DNM1P47	100216544	broad.mit.edu	37	15	102305084	102305084	+	RNA	SNP	T	T	C			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr15:102305084T>C	ENST00000561463.1	+	0	13130									DNM1 pseudogene 47																		GACATCAACATGAACACCATC	0.632																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102305084T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305084T>C														0	13130	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	31	0	0	0	0.000602	0	4	31				
MPDZ	8777	broad.mit.edu	37	9	13219563	13219563	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr9:13219563A>T	ENST00000319217.7	-	8	1328	c.1081T>A	c.(1081-1083)Ttg>Atg	p.L361M	MPDZ_ENST00000541718.1_Missense_Mutation_p.L361M|MPDZ_ENST00000381022.2_Missense_Mutation_p.L361M|MPDZ_ENST00000536827.1_Missense_Mutation_p.L361M|MPDZ_ENST00000546205.1_Missense_Mutation_p.L361M|MPDZ_ENST00000381015.4_Missense_Mutation_p.L361M|MPDZ_ENST00000447879.1_Missense_Mutation_p.L361M	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	361					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTTACCCGCAACTCTGGTGTT	0.418																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(1081-1083)Ttg>Atg		multiple PDZ domain protein							100.0	98.0	98.0					9																	13219563		1947	4148	6095	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13219563A>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1081T>A	9.37:g.13219563A>T	ENSP00000320006:p.Leu361Met					MPDZ_ENST00000381015.4_Missense_Mutation_p.L361M|MPDZ_ENST00000381022.2_Missense_Mutation_p.L361M|MPDZ_ENST00000546205.1_Missense_Mutation_p.L361M|MPDZ_ENST00000447879.1_Missense_Mutation_p.L361M|MPDZ_ENST00000541718.1_Missense_Mutation_p.L361M|MPDZ_ENST00000536827.1_Missense_Mutation_p.L361M	p.L361M	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	8	1328	-			361					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1081T>A		.	.	.	.	.	.	.	.	.	.	A	4.766	0.142500	0.09083	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.93	2.19	0.27852	.	0.445155	0.19229	N	0.119459	T	0.18002	0.0432	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.06006	-1.0851	10	0.27785	T	0.31	.	3.1504	0.06485	0.1424:0.0766:0.1379:0.6431	.	361;361;361	B7ZMI4;O75970-3;O75970-2	.;.;.	M	361	ENSP00000320006:L361M;ENSP00000439807:L361M;ENSP00000370410:L361M;ENSP00000444151:L361M;ENSP00000415208:L361M;ENSP00000370403:L361M;ENSP00000446358:L361M	ENSP00000320006:L361M	L	-	1	2	MPDZ	13209563	0.999000	0.42202	0.888000	0.34837	0.015000	0.08874	0.877000	0.28106	0.121000	0.18284	-0.339000	0.08088	TTG		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		17	23	0	0	0	0.004990	0	17	23				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	49	0	0	0	0.000248	0	4	49				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	12	0	0	0	0.004672	0	3	12				
F13B	2165	broad.mit.edu	37	1	197036317	197036317	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr1:197036317T>C	ENST00000367412.1	-	1	80	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	13					blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCTGAGATTATCAATATGATG	0.299																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(37-39)Ata>Gta		coagulation factor XIII, B polypeptide							40.0	43.0	42.0					1																	197036317		2201	4283	6484	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197036317T>C	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.37A>G	1.37:g.197036317T>C	ENSP00000356382:p.Ile13Val						p.I13V	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			1	80	-			13					A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.37A>G	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	4.748	0.139034	0.09083	.	.	ENSG00000143278	ENST00000367412	T	0.26067	1.76	5.47	1.35	0.21983	.	0.239301	0.21663	N	0.070988	T	0.18551	0.0445	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.13229	-1.0517	10	0.22706	T	0.39	.	2.8513	0.05559	0.1348:0.0765:0.2796:0.509	.	13	P05160	F13B_HUMAN	V	13	ENSP00000356382:I13V	ENSP00000356382:I13V	I	-	1	0	F13B	195302940	0.020000	0.18652	0.889000	0.34880	0.082000	0.17680	0.005000	0.13129	0.893000	0.36288	-0.291000	0.09656	ATA		0.299	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		9	69	0	0	0	0.008291	0	9	69				
CD97	976	broad.mit.edu	37	19	14507206	14507206	+	Silent	SNP	C	C	T	rs552958951	byFrequency	TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr19:14507206C>T	ENST00000242786.5	+	5	479	c.399C>T	c.(397-399)tgC>tgT	p.C133C	CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Silent_p.C133C	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	133	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACGGCACCTGCGTCAACACCC	0.567													c|||	3	0.000599042	0.0023	0.0	5008	,	,		22339	0.0		0.0	False		,,,				2504	0.0					ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(397-399)tgC>tgT		CD97 molecule							162.0	124.0	137.0					19																	14507206		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14507206C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.399C>T	19.37:g.14507206C>T						CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Silent_p.C133C	p.C133C	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			5	479	+			133			EGF-like 3; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.399C>T	CCDS32929.1																																																																																				0.567	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		9	117	0	0	0	0.008291	0	9	117				
FN1	2335	broad.mit.edu	37	2	216262570	216262570	+	Splice_Site	SNP	A	A	C			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr2:216262570A>C	ENST00000359671.1	-	22	3615	c.3350T>G	c.(3349-3351)cTg>cGg	p.L1117R	FN1_ENST00000356005.4_Splice_Site_p.L1117R|FN1_ENST00000346544.3_Splice_Site_p.L1117R|FN1_ENST00000432072.2_Splice_Site_p.L1117R|FN1_ENST00000421182.1_Splice_Site_p.L1117R|FN1_ENST00000446046.1_Splice_Site_p.L1117R|FN1_ENST00000357009.2_Splice_Site_p.L1117R|FN1_ENST00000357867.4_Splice_Site_p.L1117R|FN1_ENST00000354785.4_Splice_Site_p.L1117R|FN1_ENST00000345488.5_Splice_Site_p.L1117R|FN1_ENST00000323926.6_Splice_Site_p.L1117R|FN1_ENST00000443816.1_Splice_Site_p.L1117R|FN1_ENST00000336916.4_Splice_Site_p.L1117R			P02751	FINC_HUMAN	fibronectin 1	1117	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCGTACACCCAGCTAGAGGAA	0.468																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.e22-1		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						98.0	82.0	88.0					2																	216262570		2203	4300	6503	SO:0001630	splice_region_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216262570A>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3349-1T>G	2.37:g.216262570A>C						FN1_ENST00000446046.1_Splice_Site_p.L1117_splice|FN1_ENST00000443816.1_Splice_Site_p.L1117_splice|FN1_ENST00000432072.2_Splice_Site_p.L1117_splice|FN1_ENST00000421182.1_Splice_Site_p.L1117_splice|FN1_ENST00000359671.1_Splice_Site_p.L1117_splice|FN1_ENST00000357867.4_Splice_Site_p.L1117_splice|FN1_ENST00000357009.2_Splice_Site_p.L1117_splice|FN1_ENST00000356005.4_Splice_Site_p.L1117_splice|FN1_ENST00000346544.3_Splice_Site_p.L1117_splice|FN1_ENST00000345488.5_Splice_Site_p.L1117_splice|FN1_ENST00000336916.4_Splice_Site_p.L1117_splice|FN1_ENST00000323926.6_Splice_Site_p.L1117_splice	p.L1117_splice			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	22	3719	-		Renal(323;0.127)	1117			Fibronectin type-III 6.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Splice_Site	SNP	ENST00000359671.1	37	c.3348_splice		.	.	.	.	.	.	.	.	.	.	A	24.3	4.515387	0.85389	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.36	5.36	0.76844	.	0.000000	0.52532	D	0.000076	T	0.72170	0.3427	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.991;0.997;0.999;0.999;0.991;1.0;0.999;0.999;0.999	T	0.75169	-0.3412	10	0.87932	D	0	.	15.6454	0.77046	1.0:0.0:0.0:0.0	.	1117;1117;1117;1117;1117;1117;1117;1117;1117;1117	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	R	1117	ENSP00000394423:L1117R;ENSP00000323534:L1117R;ENSP00000338200:L1117R;ENSP00000350534:L1117R;ENSP00000346839:L1117R;ENSP00000352696:L1117R;ENSP00000265312:L1117R;ENSP00000273049:L1117R;ENSP00000349509:L1117R;ENSP00000410422:L1117R;ENSP00000415018:L1117R;ENSP00000399538:L1117R;ENSP00000348285:L1117R	ENSP00000265313:L1117R	L	-	2	0	FN1	215970815	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.910000	0.92685	2.158000	0.67659	0.482000	0.46254	CTG		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	Missense_Mutation	21	44	0	0	0	0.001523	0	21	44				
CD74	972	broad.mit.edu	37	5	149784722	149784722	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr5:149784722A>T	ENST00000009530.7	-	5	464	c.463T>A	c.(463-465)Tac>Aac	p.Y155N	CD74_ENST00000353334.6_Missense_Mutation_p.Y155N|CD74_ENST00000377795.3_Intron|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	155					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGGCGGGTACACCTTCAGG	0.562			T	ROS1	NSCLC																																	ENST00000353334.6				Dom	yes		5	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(463-465)Tac>Aac		CD74 molecule, major histocompatibility complex, class II invariant chain							96.0	99.0	98.0					5																	149784722		1964	4146	6110	SO:0001583	missense	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149784722A>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.463T>A	5.37:g.149784722A>T	ENSP00000009530:p.Tyr155Asn					CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Missense_Mutation_p.Y155N	p.Y155N	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	642	-		all_hematologic(541;0.224)	155					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	ENST00000009530.7	37	c.463T>A	CCDS47309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.391825|4.391825	0.83011|0.83011	.|.	.|.	ENSG00000019582|ENSG00000019582	ENST00000518797|ENST00000353334;ENST00000009530	T|T	0.61158|0.61980	0.13|0.06	5.93|5.93	5.93|5.93	0.95920|0.95920	.|MHC class II-associated invariant chain, trimerisation (3);	.|0.245821	.|0.42172	.|D	.|0.000751	T|T	0.79125|0.79125	0.4393|0.4393	M|M	0.73598|0.73598	2.24|2.24	0.33466|0.33466	D|D	0.585547|0.585547	.|D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999	.|D;D;D;D	.|0.87578	.|0.998;0.974;0.966;0.985	D|D	0.86116|0.86116	0.1565|0.1565	7|10	0.56958|0.87932	D|D	0.05|0	-25.5884|-25.5884	15.3655|15.3655	0.74519|0.74519	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|155;155;155;67	.|A9YLN4;P04233-2;P04233;B4DUJ2	.|.;.;HG2A_HUMAN;.	E|N	149|155	ENSP00000430614:V149E|ENSP00000009530:Y155N	ENSP00000430614:V149E|ENSP00000009530:Y155N	V|Y	-|-	2|1	0|0	CD74|CD74	149764915|149764915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.833000|0.833000	0.47200|0.47200	5.581000|5.581000	0.67471|0.67471	2.271000|2.271000	0.75665|0.75665	0.459000|0.459000	0.35465|0.35465	GTA|TAC		0.562	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		4	78	0	0	0	0.001168	0	4	78				
COL6A3	1293	broad.mit.edu	37	2	238275793	238275793	+	Silent	SNP	C	C	A			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr2:238275793C>A	ENST00000295550.4	-	11	5489	c.5037G>T	c.(5035-5037)ggG>ggT	p.G1679G	COL6A3_ENST00000353578.4_Silent_p.G1473G|COL6A3_ENST00000472056.1_Silent_p.G1072G|COL6A3_ENST00000346358.4_Silent_p.G1479G|COL6A3_ENST00000347401.3_Silent_p.G1478G|COL6A3_ENST00000409809.1_Silent_p.G1473G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1679	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.		G -> E (in BM). {ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:9536084}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTGGACAAGCCCCACTTGGA	0.468																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5035-5037)ggG>ggT		collagen, type VI, alpha 3							77.0	67.0	71.0					2																	238275793		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275793C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5037G>T	2.37:g.238275793C>A						COL6A3_ENST00000353578.4_Silent_p.G1473G|COL6A3_ENST00000347401.3_Silent_p.G1478G|COL6A3_ENST00000346358.4_Silent_p.G1479G|COL6A3_ENST00000409809.1_Silent_p.G1473G|COL6A3_ENST00000472056.1_Silent_p.G1072G	p.G1679G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5489	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1679		G -> E (in BM).	Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.5037G>T	CCDS33412.1																																																																																				0.468	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		14	16	1	0	6.81908e-15	0.002450	1.99117e-14	14	16				
ACVR1B	91	broad.mit.edu	37	12	52387841	52387841	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr12:52387841C>T	ENST00000257963.4	+	9	1542	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ACVR1B_ENST00000541224.1_Missense_Mutation_p.R530C|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R437C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	489	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GACGGCCCTGCGCATCAAGAA	0.612																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1465-1467)Cgc>Tgc		activin A receptor, type IB	Adenosine triphosphate(DB00171)						148.0	129.0	135.0					12																	52387841		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52387841C>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1465C>T	12.37:g.52387841C>T	ENSP00000257963:p.Arg489Cys					ACVR1B_ENST00000542485.1_Missense_Mutation_p.R437C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R530C	p.R489C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	9	1542	+			489			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1465C>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762463	0.89932	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000542485	D;D;D	0.93488	-3.23;-3.23;-3.23	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.918;1.0	D	0.96660	0.9488	10	0.87932	D	0	.	19.3302	0.94283	0.0:1.0:0.0:0.0	.	530;489	P36896-4;P36896	.;ACV1B_HUMAN	C	489;530;437	ENSP00000257963:R489C;ENSP00000442656:R530C;ENSP00000442885:R437C	ENSP00000257963:R489C	R	+	1	0	ACVR1B	50674108	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.818000	0.86416	2.572000	0.86782	0.591000	0.81541	CGC		0.612	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		20	73	0	0	0	0.001882	0	20	73				
DNAH9	1770	broad.mit.edu	37	17	11774927	11774927	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr17:11774927G>A	ENST00000262442.4	+	52	10134	c.10066G>A	c.(10066-10068)Gct>Act	p.A3356T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3356T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3356					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGAGGACTCGCTTCTGAAAA	0.493																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(10066-10068)Gct>Act		dynein, axonemal, heavy chain 9							120.0	110.0	113.0					17																	11774927		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11774927G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10066G>A	17.37:g.11774927G>A	ENSP00000262442:p.Ala3356Thr					DNAH9_ENST00000454412.2_Missense_Mutation_p.A3356T	p.A3356T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	52	10134	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3356					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.10066G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697539	0.68386	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80214	-1.35;-1.35	4.82	3.84	0.44239	Dynein heavy chain, coiled coil stalk (1);	0.195714	0.44097	N	0.000498	D	0.84893	0.5573	M	0.91354	3.2	0.80722	D	1	B	0.22346	0.068	B	0.29524	0.103	D	0.85397	0.1129	10	0.87932	D	0	.	13.3355	0.60515	0.0768:0.0:0.9232:0.0	.	3356	Q9NYC9	DYH9_HUMAN	T	3356;3356;1938	ENSP00000262442:A3356T;ENSP00000414874:A3356T	ENSP00000262442:A3356T	A	+	1	0	DNAH9	11715652	1.000000	0.71417	0.894000	0.35097	0.998000	0.95712	4.471000	0.60182	1.365000	0.46057	0.643000	0.83706	GCT		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		26	46	0	0	0	0.004656	0	26	46				
C22orf42	150297	broad.mit.edu	37	22	32554980	32554980	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr22:32554980T>C	ENST00000382097.3	-	1	295	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	75										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CCTTTGGACATCTTCAGCATC	0.547																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(223-225)Atg>Gtg		chromosome 22 open reading frame 42							151.0	152.0	152.0					22																	32554980		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32554980T>C	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.223A>G	22.37:g.32554980T>C	ENSP00000371529:p.Met75Val						p.M75V	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			1	295	-			75					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.223A>G	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.492185	0.01009	.	.	ENSG00000205856	ENST00000382097	T	0.25250	1.81	.	.	.	.	.	.	.	.	T	0.12263	0.0298	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.23018	0.043	T	0.28996	-1.0026	7	0.66056	D	0.02	.	.	.	.	.	75	Q6IC83	CV042_HUMAN	V	75	ENSP00000371529:M75V	ENSP00000371529:M75V	M	-	1	0	C22orf42	30884980	0.005000	0.15991	0.024000	0.17045	0.025000	0.11179	0.126000	0.15769	0.056000	0.16144	0.055000	0.15244	ATG		0.547	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		68	151	0	0	0	0.003610	0	68	151				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	12	0	0	0	0.000602	0	3	12				
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																						ENST00000370455.3																			1	Deletion - Frameshift(1)	p.K145fs*48(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(505-507)gafs		small ArfGAP 1							23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71508370delA	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs					SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	p.E169fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			6	754	+			169					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	c.506delA	CCDS43478.1																																																																																				0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		3	3						3	3	---	---	---	---
NFIB	4781	broad.mit.edu	37	9	14125721	14125722	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr9:14125721_14125722delAC	ENST00000380959.3	-	7	1442_1443	c.969_970delGT	c.(967-972)ttgttcfs	p.L323fs	NFIB_ENST00000397581.2_Frame_Shift_Del_p.L323fs|NFIB_ENST00000543693.1_Frame_Shift_Del_p.L71fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.L323fs|NFIB_ENST00000380924.1_Frame_Shift_Del_p.L71fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.L323fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.L323fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.L349fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	323					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCAGAGCTGAACAATGGCTTTT	0.48			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(967-972)tttcfs		nuclear factor I/B																																				SO:0001589	frameshift_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14125721_14125722delAC	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.969_970delGT	9.37:g.14125721_14125722delAC	ENSP00000370346:p.Leu323fs					NFIB_ENST00000397581.2_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.LF349fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000380924.1_Frame_Shift_Del_p.LF71fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.LF323fs|NFIB_ENST00000543693.1_Frame_Shift_Del_p.LF71fs	p.LF323fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	7	1442_1443	-			323					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Frame_Shift_Del	DEL	ENST00000380959.3	37	c.969_970delGT	CCDS6474.1																																																																																				0.480	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		35	60						35	60	---	---	---	---
TRDV2	28517	broad.mit.edu	37	14	22892201	22892202	+	RNA	INS	-	-	A	rs571556949		TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr14:22892201_22892202insA	ENST00000390469.2	+	0	520				AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA					T cell receptor delta variable 2																		actaaaaatacaaaaaaaaaaa	0.545																																						ENST00000514473.2																			0																																																			101929735							g.chr14:22892201_22892202insA	X15207		14q11.2	2012-02-07			ENSG00000211821	ENSG00000211821		"""T cell receptors / TRD locus"""	12263	other	T cell receptor gene						2526321	Standard	NG_001332		Approved	hDV102S1, MGC117421			OTTHUMG00000170843		14.37:g.22892212_22892212dupA						AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA								0	225	-									RNA	INS	ENST00000390469.2	37																																																																																						0.545	TRDV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410669.1	NG_001332		3	5						3	5	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	lincRNA	DEL	T	T	-	rs559860539|rs34190287|rs66639120	byFrequency	TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													|||unknown(HR)	1522	0.303914	0.3994	0.2983	5008	,	,		15302	0.2619		0.2346	False		,,,				2504	0.2935					ENST00000597550.1																			0																																																			0							g.chr19:53703995delT																													19.37:g.53703995delT														0	232	+									RNA	DEL	ENST00000597550.1	37																																																																																						0.473	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			6	4						6	4	---	---	---	---
SOX10	6663	broad.mit.edu	37	22	38370169	38370180	+	In_Frame_Del	DEL	GGGGTGGTTGGA	GGGGTGGTTGGA	-			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chr22:38370169_38370180delGGGGTGGTTGGA	ENST00000396884.2	-	4	1005_1016	c.723_734delTCCAACCACCCC	c.(721-735)cctccaaccaccccg>ccg	p.241_245PPTTP>P	SOX10_ENST00000360880.2_In_Frame_Del_p.241_245PPTTP>P|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	241					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTG	0.646																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	ENST00000396884.2																			0				NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20						c.(721-735)ccg>cc		SRY (sex determining region Y)-box 10																																				SO:0001651	inframe_deletion	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38370169_38370180delGGGGTGGTTGGA		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.723_734delTCCAACCACCCC	22.37:g.38370169_38370180delGGGGTGGTTGGA	ENSP00000380093:p.Pro241_Thr244del					POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_In_Frame_Del_p.PPTTP241del|POLR2F_ENST00000405557.1_Intron	p.PPTTP241del	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN			4	1005_1016	-	Melanoma(58;0.045)		241					B4DV62|Q6FHW7	In_Frame_Del	DEL	ENST00000396884.2	37	c.723_734delTCCAACCACCCC	CCDS13964.1																																																																																				0.646	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		46	135						46	135	---	---	---	---
PLXNB3	5365	broad.mit.edu	37	X	153040467	153040468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D6-6827-01A-11D-1912-08	TCGA-D6-6827-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	059be8f9-9536-40c0-a751-5fe529a2f01f	fddb2e4f-1d76-4108-9c87-14b55cc52055	g.chrX:153040467_153040468insG	ENST00000361971.5	+	24	4178_4179	c.4064_4065insG	c.(4063-4068)gaggggfs	p.EG1355fs	PLXNB3_ENST00000538282.1_Stop_Codon_Ins|PLXNB3_ENST00000538776.1_Frame_Shift_Ins_p.EG1008fs|PLXNB3_ENST00000538966.1_Frame_Shift_Ins_p.EG1378fs|SRPK3_ENST00000489426.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1355					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAAGCCTGAGGGGCCAGGGG	0.688																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(4132-4134)gggfs		plexin B3																																				SO:0001589	frameshift_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153040467_153040468insG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4068dupG	X.37:g.153040471_153040471dupG	ENSP00000355378:p.Glu1355fs					PLXNB3_ENST00000361971.5_Frame_Shift_Ins_p.G1355fs|PLXNB3_ENST00000538776.1_Frame_Shift_Ins_p.G1008fs|PLXNB3_ENST00000538282.1_Stop_Codon_Ins	p.G1378fs	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			25	4404_4405	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1355					B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Ins	INS	ENST00000361971.5	37	c.4133_4134insG	CCDS14729.1																																																																																				0.688	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			20	15						20	15	---	---	---	---
