#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TEKT2	27285	broad.mit.edu	37	1	36553404	36553404	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:36553404G>A	ENST00000207457.3	+	9	1202	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	359					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGCGCAAGCACAGTAGGT	0.632																																						ENST00000207457.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.(1075-1077)Gca>Aca		tektin 2 (testicular)							51.0	46.0	47.0					1																	36553404		2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36553404G>A	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1075G>A	1.37:g.36553404G>A	ENSP00000207457:p.Ala359Thr		Somatic					p.A359T	NM_014466.2	NP_055281.2	WXS	Illumina GAIIx	Phase_I	Q9UIF3	TEKT2_HUMAN			9	1202	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	359					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.1075G>A	CCDS401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.569995|2.569995	0.45798|0.45798	.|.	.|.	ENSG00000092850|ENSG00000092850	ENST00000207457|ENST00000473120	T|.	0.03330|.	3.97|.	4.99|4.99	0.124|0.124	0.14714|0.14714	.|.	0.295098|.	0.36815|.	N|.	0.002400|.	T|T	0.45558|0.45558	0.1348|0.1348	L|L	0.44542|0.44542	1.39|1.39	0.34705|0.34705	D|D	0.727165|0.727165	B|.	0.24576|.	0.106|.	B|.	0.34385|.	0.181|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.42905|.	T|.	0.14|.	.|.	5.9611|5.9611	0.19301|0.19301	0.2132:0.0:0.5196:0.2672|0.2132:0.0:0.5196:0.2672	.|.	359|.	Q9UIF3|.	TEKT2_HUMAN|.	T|N	359|94	ENSP00000207457:A359T|.	ENSP00000207457:A359T|.	A|S	+|+	1|2	0|0	TEKT2|TEKT2	36325991|36325991	0.122000|0.122000	0.22280|0.22280	0.936000|0.936000	0.37596|0.37596	0.805000|0.805000	0.45488|0.45488	0.112000|0.112000	0.15479|0.15479	0.726000|0.726000	0.32339|0.32339	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.632	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		4	31	4	31	---	---	---	---
NES	10763	broad.mit.edu	37	1	156647011	156647011	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:156647011T>C	ENST00000368223.3	-	1	178	c.46A>G	c.(46-48)Aat>Gat	p.N16D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	16	Coil 1A.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCGCCGATTGAGCTCCCAC	0.672																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(46-48)Aat>Gat		nestin							13.0	16.0	15.0					1																	156647011		2050	4197	6247	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156647011T>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.46A>G	1.37:g.156647011T>C	ENSP00000357206:p.Asn16Asp		Somatic					p.N16D	NM_006617.1	NP_006608.1	WXS	Illumina GAIIx	Phase_I	P48681	NEST_HUMAN			1	178	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		16			Coil 1A.|Rod.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.46A>G	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	32	5.132962	0.94517	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.96554	-4.05	4.98	4.98	0.66077	Filament (1);	.	.	.	.	D	0.98005	0.9343	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99177	1.0866	9	0.87932	D	0	.	13.4842	0.61355	0.0:0.0:0.0:1.0	.	16	P48681	NEST_HUMAN	D	16	ENSP00000357206:N16D	ENSP00000255024:N16D	N	-	1	0	NES	154913635	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.452000	0.66638	1.841000	0.53522	0.379000	0.24179	AAT		0.672	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	28	5	28	---	---	---	---
CD1A	909	broad.mit.edu	37	1	158226847	158226847	+	Silent	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:158226847C>T	ENST00000289429.5	+	4	1409	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	292					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCGTCCTCTACTGGGGTG	0.567																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(874-876)ctC>ctT		CD1a molecule	Antithymocyte globulin(DB00098)						52.0	51.0	51.0					1																	158226847		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226847C>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.876C>T	1.37:g.158226847C>T			Somatic					p.L292L	NM_001763.2	NP_001754.2	WXS	Illumina GAIIx	Phase_I	P06126	CD1A_HUMAN			4	1409	+	all_hematologic(112;0.0378)		292					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.876C>T	CCDS1174.1																																																																																				0.567	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		5	60	5	60	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24011409	24011409	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:24011409T>C	ENST00000238789.5	-	20	3092	c.2749A>G	c.(2749-2751)Atg>Gtg	p.M917V	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	917						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGCCATTGATGCCTGA	0.363																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2749-2751)Atg>Gtg		ATPase family, AAA domain containing 2B							157.0	145.0	149.0					2																	24011409		1849	4082	5931	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24011409T>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2749A>G	2.37:g.24011409T>C	ENSP00000238789:p.Met917Val		Somatic				ATAD2B_ENST00000474583.1_5'UTR	p.M917V	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	WXS	Illumina GAIIx	Phase_I	Q9ULI0	ATD2B_HUMAN			20	3092	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		917					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2749A>G	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192501	0.38707	.	.	ENSG00000119778	ENST00000238789;ENST00000546030	D	0.91237	-2.81	5.55	4.39	0.52855	.	0.564534	0.17912	N	0.157810	T	0.80385	0.4613	N	0.14661	0.345	0.32516	N	0.536843	B;B	0.18610	0.017;0.029	B;B	0.20577	0.013;0.03	T	0.75551	-0.3278	10	0.27785	T	0.31	.	6.8377	0.23945	0.1338:0.071:0.0:0.7952	.	917;917	Q9ULI0;Q9ULI0-2	ATD2B_HUMAN;.	V	917;85	ENSP00000238789:M917V	ENSP00000238789:M917V	M	-	1	0	ATAD2B	23864913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.584000	0.46102	1.053000	0.40415	0.533000	0.62120	ATG		0.363	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		12	48	12	48	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179435785	179435785	+	Missense_Mutation	SNP	A	A	C	rs3731743		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:179435785A>C	ENST00000591111.1	-	276	70375	c.70151T>G	c.(70150-70152)cTt>cGt	p.L23384R	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L25025R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23384	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTGAAGAGTCACAGA	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75073-75075)cTt>cGt		titin							141.0	144.0	143.0					2																	179435785		1947	4137	6084	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435785A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70151T>G	2.37:g.179435785A>C	ENSP00000465570:p.Leu23384Arg		Somatic				TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L23384R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R	p.L25025R	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75298	-			23384			Ig-like 123.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75074T>G		.	.	.	.	.	.	.	.	.	.	A	13.03	2.114588	0.37339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.28	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85775	0.5775	H	0.98980	4.39	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91671	0.5350	9	0.87932	D	0	.	15.5037	0.75722	1.0:0.0:0.0:0.0	.	15960;16085;16152;23384	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	22457;15960;16152;16085;15958	ENSP00000343764:L22457R;ENSP00000434586:L15960R;ENSP00000340554:L16152R;ENSP00000352154:L16085R	ENSP00000340554:L16152R	L	-	2	0	TTN	179144031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.125000	0.65367	0.528000	0.53228	CTT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	170	3	170	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62478078	62478078	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:62478078G>A	ENST00000383710.4	-	20	3120	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	924	Interaction with DRD2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.T934M(1)|p.T924M(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGACAGGAACGTCTCCGCATG	0.448																																						ENST00000383710.4																			2	Substitution - Missense(2)	p.T934M(1)|p.T924M(1)	large_intestine(2)	breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2770-2772)aCg>aTg		Ca++-dependent secretion activator							329.0	328.0	328.0					3																	62478078		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62478078G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2771C>T	3.37:g.62478078G>A	ENSP00000373215:p.Thr924Met		Somatic				CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M	p.T924M	NM_003716.3	NP_003707.2	WXS	Illumina GAIIx	Phase_I	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	20	3120	-		Lung SC(41;0.0452)	924			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2771C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519251	0.44866	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.44881	0.92;0.92;0.91	6.17	5.3	0.74995	Calcium-dependent secretion activator (1);	0.211440	0.48286	D	0.000181	T	0.51500	0.1678	L	0.56769	1.78	0.80722	D	1	D;P;D;D	0.61080	0.989;0.468;0.986;0.989	P;B;P;P	0.51016	0.656;0.023;0.616;0.541	T	0.56335	-0.7996	10	0.66056	D	0.02	.	15.6596	0.77174	0.0652:0.0:0.9348:0.0	.	894;934;924;924	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	M	924;924;894;934	ENSP00000373215:T924M;ENSP00000350632:T894M;ENSP00000283269:T934M	ENSP00000283269:T934M	T	-	2	0	CADPS	62453118	1.000000	0.71417	0.988000	0.46212	0.922000	0.55478	3.810000	0.55613	1.636000	0.50526	0.655000	0.94253	ACG		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		7	510	7	510	---	---	---	---
TIFA	92610	broad.mit.edu	37	4	113199473	113199473	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr4:113199473T>C	ENST00000361717.3	-	2	381	c.100A>G	c.(100-102)Ata>Gta	p.I34V	TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	34					I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TTAAAACTTATTGACTGAAAT	0.428																																						ENST00000361717.3																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(100-102)Ata>Gta		TRAF-interacting protein with forkhead-associated domain							89.0	96.0	94.0					4																	113199473		2203	4298	6501	SO:0001583	missense	92610						protein binding	g.chr4:113199473T>C	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.100A>G	4.37:g.113199473T>C	ENSP00000354911:p.Ile34Val		Somatic				TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	p.I34V	NM_052864.2	NP_443096.1	WXS	Illumina GAIIx	Phase_I	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	381	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)							Missense_Mutation	SNP	ENST00000361717.3	37	c.100A>G	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	T	3.746	-0.052541	0.07362	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.43294	0.95;0.95	5.92	4.81	0.61882	.	0.178513	0.49916	D	0.000123	T	0.35189	0.0923	L	0.60455	1.87	0.09310	N	1	P	0.37441	0.595	B	0.31869	0.137	T	0.41016	-0.9532	10	0.49607	T	0.09	-0.0053	9.3568	0.38171	0.0994:0.0:0.1831:0.7175	.	34	Q96CG3	TIFA_HUMAN	V	34	ENSP00000354911:I34V;ENSP00000424231:I34V	ENSP00000354911:I34V	I	-	1	0	TIFA	113418922	0.060000	0.20803	0.033000	0.17914	0.451000	0.32288	1.164000	0.31810	2.277000	0.76020	0.528000	0.53228	ATA		0.428	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		46	121	46	121	---	---	---	---
TENM2	57451	broad.mit.edu	37	5	167673770	167673770	+	Silent	SNP	C	C	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:167673770C>A	ENST00000518659.1	+	27	5865	c.5826C>A	c.(5824-5826)gtC>gtA	p.V1942V	TENM2_ENST00000519204.1_Silent_p.V1821V|TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000403607.2_Silent_p.V1766V|TENM2_ENST00000520394.1_Silent_p.V1703V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1942					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGTCCATGGTCCTCCTGCTTC	0.502																																						ENST00000519204.1																			0											c.(5461-5463)gtC>gtA		teneurin transmembrane protein 2							274.0	280.0	278.0					5																	167673770		2056	4198	6254	SO:0001819	synonymous_variant	57451							g.chr5:167673770C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5826C>A	5.37:g.167673770C>A			Somatic				TENM2_ENST00000520394.1_Silent_p.V1703V|TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000403607.2_Silent_p.V1766V|TENM2_ENST00000518659.1_Silent_p.V1942V	p.V1821V			WXS	Illumina GAIIx	Phase_I					26	5581	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.5463C>A																																																																																					0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		95	334	95	334	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:161020597A>G	ENST00000316300.5	-	20	3266	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000447678.1_Silent_p.T1074T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3220-3222)acT>acC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						283.0	303.0	296.0					6																	161020597		2203	4300	6503	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020597A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3222T>C	6.37:g.161020597A>G			Somatic				LPA_ENST00000316300.5_Silent_p.T1074T	p.T1074T	NM_005577.2	NP_005568.2	WXS	Illumina GAIIx	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3342	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3582			Kringle 10.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3222T>C	CCDS43523.1																																																																																				0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	516	5	516	---	---	---	---
MTERF3	51001	broad.mit.edu	37	8	97269341	97269341	+	Splice_Site	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:97269341T>C	ENST00000287025.3	-	3	434	c.336A>G	c.(334-336)gaA>gaG	p.E112E	MTERFD1_ENST00000522822.1_5'UTR|MTERFD1_ENST00000523821.1_Splice_Site_p.E112E|MTERFD1_ENST00000524341.1_5'Flank	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		112					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATTCATCCAGTTCTTTGAAAG	0.408																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(334-336)gaA>gaG		MTERF domain containing 1							103.0	98.0	100.0					8																	97269341		2203	4300	6503	SO:0001630	splice_region_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97269341T>C																												ENST00000287025.3:c.335-1A>G	8.37:g.97269341T>C			Somatic				MTERFD1_ENST00000287025.3_Splice_Site_p.E112E|MTERFD1_ENST00000522822.1_5'UTR	p.E112E			WXS	Illumina GAIIx	Phase_I	Q96E29	MTER1_HUMAN			3	455	-	Breast(36;5.16e-05)		112					B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	37	c.336A>G	CCDS6270.1																																																																																				0.408	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		Silent	4	77	4	77	---	---	---	---
IFNA4	3441	broad.mit.edu	37	9	21186979	21186979	+	Silent	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr9:21186979T>C	ENST00000421715.1	-	1	619	c.552A>G	c.(550-552)agA>agG	p.R184R		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	184					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCTCCTTAATCTTTTTTGCA	0.388																																					NSCLC(154;890 1986 23660 27800 51138)	ENST00000421715.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(550-552)agA>agG		interferon, alpha 4							168.0	170.0	169.0					9																	21186979		2203	4300	6503	SO:0001819	synonymous_variant	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21186979T>C		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.552A>G	9.37:g.21186979T>C			Somatic					p.R184R	NM_021068.2	NP_066546.1	WXS	Illumina GAIIx	Phase_I	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	619	-			184					P13358|Q14CS4|Q5VV15	Silent	SNP	ENST00000421715.1	37	c.552A>G	CCDS6498.1																																																																																				0.388	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		7	197	7	197	---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115971690	115971690	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr10:115971690T>C	ENST00000369280.1	+	14	2186	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000251864.2_Missense_Mutation_p.Y576H|TDRD1_ENST00000369281.2_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	576	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTGGTCGGATATGTAGATTA	0.393																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1726-1728)Tat>Cat		tudor domain containing 1							173.0	165.0	168.0					10																	115971690		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115971690T>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1726T>C	10.37:g.115971690T>C	ENSP00000358286:p.Tyr576His		Somatic				TDRD1_ENST00000369280.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Intron	p.Y576H	NM_198795.1	NP_942090.1	WXS	Illumina GAIIx	Phase_I	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	14	1879	+		Colorectal(252;0.172)|Breast(234;0.188)	576			Tudor 2.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1726T>C		.	.	.	.	.	.	.	.	.	.	T	23.6	4.429727	0.83776	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369280	T;T;T	0.12147	2.71;2.71;2.71	5.8	5.8	0.92144	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.066303	0.64402	D	0.000007	T	0.44623	0.1302	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51655	-0.8678	10	0.62326	D	0.03	-21.952	14.7213	0.69308	0.0:0.0:0.0:1.0	.	576;576	Q9BXT4;Q9BXT4-3	TDRD1_HUMAN;.	H	576	ENSP00000358288:Y576H;ENSP00000251864:Y576H;ENSP00000358286:Y576H	ENSP00000251864:Y576H	Y	+	1	0	TDRD1	115961680	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.666000	0.74446	2.203000	0.70933	0.460000	0.39030	TAT		0.393	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			5	81	5	81	---	---	---	---
MFSD5	84975	broad.mit.edu	37	12	53647321	53647321	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:53647321G>C	ENST00000329548.4	+	2	893	c.702G>C	c.(700-702)agG>agC	p.R234S	MFSD5_ENST00000534842.1_Missense_Mutation_p.R341S	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	234					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCTCAAGGACCTGTGCTG	0.602																																						ENST00000534842.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1021-1023)agG>agC		major facilitator superfamily domain containing 5							83.0	83.0	83.0					12																	53647321		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53647321G>C	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.702G>C	12.37:g.53647321G>C	ENSP00000332624:p.Arg234Ser		Somatic				MFSD5_ENST00000329548.4_Missense_Mutation_p.R234S	p.R341S	NM_001170790.1	NP_001164261.1	WXS	Illumina GAIIx	Phase_I	Q6N075	MFSD5_HUMAN			2	1170	+			234					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.1023G>C	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304476	0.23736	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80393	-1.37;-1.37	4.77	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);	0.115711	0.56097	D	0.000034	T	0.64649	0.2617	L	0.39397	1.21	0.39310	D	0.965056	B;P	0.38370	0.285;0.628	B;B	0.30316	0.096;0.114	T	0.62364	-0.6870	10	0.19147	T	0.46	-3.05	7.2521	0.26156	0.0934:0.1742:0.7324:0.0	.	234;341	Q6N075;G3V1N7	MFSD5_HUMAN;.	S	341;341;341;234	ENSP00000442688:R341S;ENSP00000332624:R234S	ENSP00000331231:R341S	R	+	3	2	MFSD5	51933588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.283000	0.33237	2.196000	0.70406	0.561000	0.74099	AGG		0.602	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		12	74	12	74	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64536384	64536384	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:64536384A>G	ENST00000355086.3	+	22	3714	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E|SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1064					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTTCTTCCAAAAACAAATCC	0.522																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(3190-3192)Aaa>Gaa		SLIT-ROBO Rho GTPase activating protein 1							116.0	117.0	117.0					12																	64536384		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536384A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.3190A>G	12.37:g.64536384A>G	ENSP00000347198:p.Lys1064Glu		Somatic				SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E	p.K1064E	NM_020762.2	NP_065813.1	WXS	Illumina GAIIx	Phase_I	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3714	+			1064					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3190A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407059	0.62399	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.32272	1.46;1.46;1.46	5.91	4.75	0.60458	.	0.000000	0.37178	U	0.002201	T	0.38719	0.1051	L	0.61218	1.895	0.50467	D	0.999874	B;P	0.45212	0.094;0.853	B;P	0.47430	0.039;0.547	T	0.11743	-1.0575	9	.	.	.	.	12.4335	0.55586	0.8741:0.0:0.0:0.1258	.	1064;1001	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	E	1064;1041;1001	ENSP00000347198:K1064E;ENSP00000350480:K1041E;ENSP00000437948:K1001E	.	K	+	1	0	SRGAP1	62822651	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.281000	0.78621	1.037000	0.40024	0.379000	0.24179	AAA		0.522	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			4	90	4	90	---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109834250	109834250	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:109834250C>G	ENST00000431443.2	+	3	304	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	MYO1H_ENST00000310903.5_Missense_Mutation_p.L102V	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	102	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(304-306)Ctc>Gtc		myosin IH							68.0	68.0	68.0					12																	109834250		1957	4152	6109	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109834250C>G		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.304C>G	12.37:g.109834250C>G	ENSP00000444076:p.Leu102Val		Somatic				MYO1H_ENST00000431443.2_Missense_Mutation_p.L102V	p.L102V			WXS	Illumina GAIIx	Phase_I	B4DNW6	B4DNW6_HUMAN			4	410	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.304C>G		.	.	.	.	.	.	.	.	.	.	C	21.3	4.131520	0.77662	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.85773	-2.03;-2.03	4.8	4.8	0.61643	.	.	.	.	.	D	0.90331	0.6975	L	0.60067	1.865	0.43719	D	0.996198	D	0.89917	1.0	D	0.87578	0.998	D	0.87617	0.2507	9	0.24483	T	0.36	.	17.7816	0.88526	0.0:1.0:0.0:0.0	.	102	F5H3C6	.	V	102	ENSP00000439182:L102V;ENSP00000444076:L102V	ENSP00000439182:L102V	L	+	1	0	MYO1H	108318633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.258000	0.51507	2.615000	0.88500	0.644000	0.83932	CTC		0.458	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		4	40	4	40	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25449418	25449418	+	RNA	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr15:25449418C>T	ENST00000424208.1	+	0	2310				SNORD115-18_ENST00000363293.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-17_ENST00000364612.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGGCCCTTCCTGTTGCCCTA	0.622																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25449418C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25449418C>T			Somatic				SNHG14_ENST00000424333.1_RNA		NR_003305.1		WXS	Illumina GAIIx	Phase_I					0	2310	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.622	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			5	30	5	30	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195699	3195699	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:3195699T>C	ENST00000323404.1	-	1	177	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	60					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TACATGGGGGTGTGGAGTTTG	0.562																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(178-180)Acc>Gcc		olfactory receptor, family 3, subfamily A, member 1							88.0	77.0	81.0					17																	3195699		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195699T>C	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.178A>G	17.37:g.3195699T>C	ENSP00000313803:p.Thr60Ala		Somatic				RP11-64J4.2_ENST00000573491.1_RNA	p.T60A	NM_002550.2	NP_002541.2	WXS	Illumina GAIIx	Phase_I	P47881	OR3A1_HUMAN			1	177	-			60					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.178A>G	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.534181	0.45073	.	.	ENSG00000180090	ENST00000323404	T	0.00472	7.19	5.83	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.126956	0.35936	N	0.002894	T	0.00608	0.0020	M	0.82193	2.58	0.21220	N	0.999753	B	0.17852	0.024	B	0.21151	0.033	T	0.43718	-0.9374	10	0.62326	D	0.03	-32.5981	7.1325	0.25510	0.1308:0.072:0.0:0.7971	.	60	P47881	OR3A1_HUMAN	A	60	ENSP00000313803:T60A	ENSP00000313803:T60A	T	-	1	0	OR3A1	3142449	0.999000	0.42202	1.000000	0.80357	0.932000	0.56968	1.488000	0.35551	0.431000	0.26258	0.528000	0.53228	ACC		0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			3	42	3	42	---	---	---	---
LOC100289333	100289333	broad.mit.edu	37	19	12318166	12318166	+	lincRNA	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:12318166A>G	ENST00000426044.1	+	0	127																											GCCTTTGAGGATGTGGCAGTG	0.463																																						ENST00000426044.1																			0																																																			100289333							g.chr19:12318166A>G																													19.37:g.12318166A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	127	+									RNA	SNP	ENST00000426044.1	37																																																																																						0.463	CTD-2666L21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344136.1			14	54	14	54	---	---	---	---
KLK14	43847	broad.mit.edu	37	19	51582742	51582742	+	Nonsense_Mutation	SNP	G	G	A	rs373580926		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:51582742G>A	ENST00000156499.2	-	5	696	c.478C>T	c.(478-480)Cga>Tga	p.R160*	KLK14_ENST00000391802.1_Nonsense_Mutation_p.R160*			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	160	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTGACACTCGGCAGGAGGTC	0.662													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16553	0.0		0.0	False		,,,				2504	0.0				GBM(117;2161 2172 2448 22911)	ENST00000391802.1																			0				kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11						c.(478-480)Cga>Tga		kallikrein-related peptidase 14			stop/ARG	3,3895		0,3,1946	32.0	36.0	35.0		478	2.8	0.5	19		35	0,8314		0,0,4157	no	stop-gained	KLK14	NM_022046.4		0,3,6103	AA,AG,GG		0.0,0.077,0.0246		160/268	51582742	3,12209	1949	4157	6106	SO:0001587	stop_gained	43847				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	g.chr19:51582742G>A	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.478C>T	19.37:g.51582742G>A	ENSP00000156499:p.Arg160*		Somatic				KLK14_ENST00000156499.2_Nonsense_Mutation_p.R160*	p.R160*	NM_022046.4	NP_071329.2	WXS	Illumina GAIIx	Phase_I	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	5	696	-		all_neural(266;0.0199)	160			Peptidase S1.		A7UNK5|Q1RMZ2|Q6B089	Nonsense_Mutation	SNP	ENST00000156499.2	37	c.478C>T	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	35	5.457605	0.96240	7.7E-4	0.0	ENSG00000129437	ENST00000156499;ENST00000391802	.	.	.	5.04	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	11.652	0.51295	0.0:0.0:0.6772:0.3228	.	.	.	.	X	160	.	ENSP00000156499:R160X	R	-	1	2	KLK14	56274554	0.001000	0.12720	0.517000	0.27799	0.540000	0.34992	-0.228000	0.09114	0.480000	0.27534	0.466000	0.42574	CGA		0.662	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		4	42	4	42	---	---	---	---
TFIP11	24144	broad.mit.edu	37	22	26899663	26899663	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:26899663G>A	ENST00000407690.1	-	7	900	c.617C>T	c.(616-618)cCt>cTt	p.P206L	TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L|TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	206					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCAACCACAGGGAAGTCTTG	0.493																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(616-618)cCt>cTt		tuftelin interacting protein 11							158.0	127.0	137.0					22																	26899663		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26899663G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.617C>T	22.37:g.26899663G>A	ENSP00000384421:p.Pro206Leu		Somatic				TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L	p.P206L	NM_012143.2	NP_036275.1	WXS	Illumina GAIIx	Phase_I	Q9UBB9	TFP11_HUMAN			7	900	-			206					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.617C>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243777	0.95272	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55860	-0.8074	10	0.27082	T	0.32	-22.3964	18.333	0.90277	0.0:0.0:1.0:0.0	.	206	Q9UBB9	TFP11_HUMAN	L	206	ENSP00000384421:P206L;ENSP00000383892:P206L;ENSP00000385861:P206L;ENSP00000384297:P206L	ENSP00000384297:P206L	P	-	2	0	TFIP11	25229663	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.258000	0.95555	2.804000	0.96469	0.655000	0.94253	CCT		0.493	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		28	61	28	61	---	---	---	---
KDELR3	11015	broad.mit.edu	37	22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:38877382G>A	ENST00000216014.4	+	4	689	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTACCAGACTGAGAATTTCTA	0.478																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000216014.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(517-519)Gag>Aag		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3							160.0	142.0	148.0					22																	38877382		2203	4300	6503	SO:0001583	missense	11015				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	g.chr22:38877382G>A	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.517G>A	22.37:g.38877382G>A	ENSP00000216014:p.Glu173Lys		Somatic				KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K|KDELR3_ENST00000471268.1_3'UTR	p.E173K	NM_006855.2	NP_006846.1	WXS	Illumina GAIIx	Phase_I	O43731	ERD23_HUMAN			4	689	+	Melanoma(58;0.0286)		173					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.517G>A	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307001	0.95629	.	.	ENSG00000100196	ENST00000216014;ENST00000409006	T;T	0.80033	-1.33;-1.33	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	H	0.96916	3.905	0.80722	D	1	P;P	0.44776	0.843;0.779	P;P	0.48873	0.558;0.593	D	0.93088	0.6497	10	0.54805	T	0.06	-11.1028	18.4255	0.90607	0.0:0.0:1.0:0.0	.	173;173	O43731;O43731-2	ERD23_HUMAN;.	K	173	ENSP00000216014:E173K;ENSP00000386918:E173K	ENSP00000216014:E173K	E	+	1	0	KDELR3	37207328	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	9.657000	0.98554	2.595000	0.87683	0.650000	0.86243	GAG		0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			3	106	3	106	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54185950	54185950	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:54185950A>G	ENST00000375180.2	-	2	855	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	267							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAATATTGTAGAGAGCATAC	0.483																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(799-801)Tac>Cac		family with sequence similarity 120C							119.0	96.0	104.0					X																	54185950		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54185950A>G	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.799T>C	X.37:g.54185950A>G	ENSP00000364324:p.Tyr267His		Somatic				FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	p.Y267H	NM_017848.4	NP_060318.3	WXS	Illumina GAIIx	Phase_I	Q9NX05	F120C_HUMAN			2	855	-			267					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.799T>C	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438204	0.83885	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.43294	0.95;0.95	5.0	5.0	0.66597	.	0.065492	0.64402	D	0.000002	T	0.47801	0.1465	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.994;0.994	D;P	0.65443	0.935;0.861	T	0.50030	-0.8875	10	0.54805	T	0.06	-8.8414	12.7441	0.57270	1.0:0.0:0.0:0.0	.	267;267	F8W881;Q9NX05	.;F120C_HUMAN	H	267	ENSP00000364324:Y267H;ENSP00000329896:Y267H	ENSP00000329896:Y267H	Y	-	1	0	FAM120C	54202675	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	5.989000	0.70587	1.646000	0.50622	0.412000	0.27726	TAC		0.483	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		3	45	3	45	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70349255	70349255	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:70349255G>C	ENST00000374080.3	+	26	3699	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000333646.6_Missense_Mutation_p.V1223L|MED12_ENST00000374102.1_Missense_Mutation_p.V1223L			Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3667-3669)Gtt>Ctt		mediator complex subunit 12							50.0	52.0	51.0					X																	70349255		2088	4191	6279	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349255G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3667G>C	X.37:g.70349255G>C	ENSP00000363193:p.Val1223Leu		Somatic	OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.V1223L|MED12_ENST00000374102.1_Missense_Mutation_p.V1223L	p.V1223L	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			26	3866	+	Renal(35;0.156)		1223					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3667G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.557493	0.86231	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.72353	2.195	0.80722	D	1	P;D;P;P	0.53885	0.929;0.963;0.929;0.939	D;P;D;P	0.67231	0.95;0.859;0.95;0.863	T	0.59043	-0.7528	10	0.45353	T	0.12	-14.5208	17.9253	0.88982	0.0:0.0:1.0:0.0	.	1223;1070;1223;1223	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1223;1223;1223;1223;1191	ENSP00000333125:V1223L;ENSP00000363215:V1223L;ENSP00000363193:V1223L;ENSP00000414203:V1191L	ENSP00000333125:V1223L	V	+	1	0	MED12	70265980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.509000	0.84616	0.529000	0.55759	GTT		0.572	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		13	20	13	20	---	---	---	---
MIR325	442899	broad.mit.edu	37	X	76225829	76225829	+	RNA	SNP	C	C	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:76225829C>T	ENST00000385260.1	-	0	97					NR_029905.1				microRNA 325																		ctatgtagtcccagagcctag	0.398																																						ENST00000385260.1																			0																				122.0	105.0	110.0					X																	76225829		1568	3582	5150			442899							g.chrX:76225829C>T			Xq21.1	2011-09-12		2008-12-18	ENSG00000207995	ENSG00000207995		"""ncRNAs / Micro RNAs"""	31768	non-coding RNA	RNA, micro				MIRN325			Standard	NR_029905		Approved	hsa-mir-325					X.37:g.76225829C>T			Somatic						NR_029905.1		WXS	Illumina GAIIx	Phase_I					0	97	-									RNA	SNP	ENST00000385260.1	37																																																																																						0.398	MIR325-201	KNOWN	basic	miRNA	miRNA		NR_029905		18	7	18	7	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314292	135314292	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:135314292G>T	ENST00000316077.9	-	8	1044	c.824C>A	c.(823-825)cCc>cAc	p.P275H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	275					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTCGACATGGGAAACATAAC	0.463																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(823-825)cCc>cAc		MAP7 domain containing 3							173.0	157.0	162.0					X																	135314292		1931	4118	6049	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314292G>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.824C>A	X.37:g.135314292G>T	ENSP00000318086:p.Pro275His		Somatic				MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H	p.P275H	NM_024597.3	NP_078873.2	WXS	Illumina GAIIx	Phase_I	Q8IWC1	MA7D3_HUMAN			8	1044	-	Acute lymphoblastic leukemia(192;0.000127)		275					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.824C>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	3.643	-0.073125	0.07228	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663	T;T;T	0.64260	2.17;-0.09;-0.09	5.0	-5.39	0.02664	.	2.351530	0.02512	N	0.091647	T	0.43567	0.1253	L	0.32530	0.975	0.09310	N	1	B;B;B	0.18863	0.031;0.031;0.011	B;B;B	0.15052	0.005;0.005;0.012	T	0.16482	-1.0401	10	0.14656	T	0.56	1.2367	4.0787	0.09916	0.0731:0.3248:0.2735:0.3286	.	257;275;240	B4DWD2;Q8IWC1;Q8IWC1-3	.;MA7D3_HUMAN;.	H	240;275;257	ENSP00000359695:P240H;ENSP00000318086:P275H;ENSP00000359697:P257H	ENSP00000318086:P275H	P	-	2	0	MAP7D3	135141958	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.281000	0.02802	-1.399000	0.02063	-0.279000	0.10071	CCC		0.463	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			3	109	3	109	---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27472797	27472798	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:27472797_27472798delAA	ENST00000295736.5	-	7	1184_1185	c.1114_1115delTT	c.(1114-1116)ttafs	p.L372fs	SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	372					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GCCTGGAGTTAAGTCAACATTT	0.455																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1114-1116)ttafs		solute carrier family 4, sodium bicarbonate cotransporter, member 7																																				SO:0001589	frameshift_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27472797_27472798delAA	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1114_1115delTT	3.37:g.27472797_27472798delAA	ENSP00000295736:p.Leu372fs		Somatic				SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000455077.1_Intron	p.L372fs	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			7	1184_1185	-			372					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Frame_Shift_Del	DEL	ENST00000295736.5	37	c.1114_1115delTT	CCDS33721.1																																																																																				0.455	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		20	93	20	93	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	480012	480012	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:480012delT	ENST00000264938.3	-	10	1595	c.1586delA	c.(1585-1587)gacfs	p.D529fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	529					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CAGGATCCGGTCTCGAGACTT	0.607																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1585-1587)gacfs		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							115.0	109.0	111.0					5																	480012		2203	4300	6503	SO:0001589	frameshift_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:480012delT		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1586delA	5.37:g.480012delT	ENSP00000264938:p.Asp529fs		Somatic				CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	p.D529fs	NM_004174.2	NP_004165.2	WXS	Illumina GAIIx	Phase_I	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		10	1595	-			529					B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Del	DEL	ENST00000264938.3	37	c.1586delA	CCDS3855.1																																																																																				0.607	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		9	130	9	130	---	---	---	---
ARHGEF5	7984	broad.mit.edu	37	7	144070332	144070332	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:144070332delA	ENST00000056217.5	+	10	4269	c.4095delA	c.(4093-4095)acafs	p.T1365fs	ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1365					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGCGACGGACAGAGGAACTAA	0.522																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(4093-4095)acafs		Rho guanine nucleotide exchange factor (GEF) 5							141.0	129.0	133.0					7																	144070332		2012	4030	6042	SO:0001589	frameshift_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144070332delA	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4095delA	7.37:g.144070332delA	ENSP00000056217:p.Thr1365fs		Somatic				ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	p.T1365fs	NM_005435.3	NP_005426.2	WXS	Illumina GAIIx	Phase_I	Q12774	ARHG5_HUMAN			10	4269	+	Melanoma(164;0.14)		1365					A6NNJ2|Q6ZML7	Frame_Shift_Del	DEL	ENST00000056217.5	37	c.4095delA	CCDS34771.1																																																																																				0.522	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		18	201	18	201	---	---	---	---
