#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
SLC2A9	56606	broad.mit.edu	37	4	10027566	10027566	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:10027566C>T	ENST00000506583.1	-	3	242	c.25G>A	c.(25-27)Gga>Aga	p.G9R	SLC2A9_ENST00000309065.3_Missense_Mutation_p.G9R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCATCTTCTCCTCGGTCCTTT	0.388																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(25-27)Gga>Aga		solute carrier family 2 (facilitated glucose transporter), member 9							149.0	151.0	150.0					4																	10027566		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:10027566C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.25G>A	4.37:g.10027566C>T	ENSP00000422209:p.Gly9Arg					SLC2A9_ENST00000309065.3_Missense_Mutation_p.G9R	p.G9R			Q9NRM0	GTR9_HUMAN			3	242	-			0					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000506583.1	37	c.25G>A	CCDS3406.1	.	.	.	.	.	.	.	.	.	.	C	3.707	-0.060384	0.07317	.	.	ENSG00000109667	ENST00000506583;ENST00000309065;ENST00000513129	D;D;D	0.87103	-1.6;-1.6;-2.21	3.59	-0.158	0.13383	.	.	.	.	.	T	0.72898	0.3518	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.55159	-0.8184	8	.	.	.	.	2.8695	0.05613	0.1993:0.4602:0.0:0.3405	.	9	Q9NRM0-2	.	R	9	ENSP00000422209:G9R;ENSP00000311383:G9R;ENSP00000426800:G9R	.	G	-	1	0	SLC2A9	9636664	0.002000	0.14202	0.000000	0.03702	0.034000	0.12701	0.355000	0.20163	-0.075000	0.12798	0.561000	0.74099	GGA		0.388	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2			23	81	0	0	0	1	0	23	81				
CARD6	84674	broad.mit.edu	37	5	40852495	40852495	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:40852495G>A	ENST00000254691.5	+	3	1260	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	354					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GATGAAGATAGCAAGGAGGAT	0.463																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1060-1062)aGc>aAc		caspase recruitment domain family, member 6							62.0	60.0	61.0					5																	40852495		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852495G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1061G>A	5.37:g.40852495G>A	ENSP00000254691:p.Ser354Asn					CARD6_ENST00000381677.3_Intron	p.S354N	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1260	+			354					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1061G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.377818	0.01204	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	D	0.92348	-3.02	5.49	-1.04	0.10068	.	1.005240	0.07993	N	0.987514	T	0.78610	0.4310	N	0.05199	-0.095	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.64512	-0.6390	10	0.15066	T	0.55	0.0076	5.4083	0.16335	0.5307:0.0:0.3259:0.1434	.	354	Q9BX69	CARD6_HUMAN	N	354	ENSP00000254691:S354N	ENSP00000254691:S354N	S	+	2	0	CARD6	40888252	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.114000	0.15520	-0.094000	0.12374	-0.140000	0.14226	AGC		0.463	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			10	17	0	0	0	1	0	10	17				
MFSD5	84975	broad.mit.edu	37	12	53647929	53647929	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr12:53647929G>A	ENST00000329548.4	+	2	1501	c.1310G>A	c.(1309-1311)cGg>cAg	p.R437Q	MFSD5_ENST00000534842.1_Missense_Mutation_p.R544Q	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	437					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						GCTGAGCTGCGGGTACCTTCA	0.547																																						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.(1630-1632)cGg>cAg		major facilitator superfamily domain containing 5							109.0	93.0	99.0					12																	53647929		2203	4300	6503	SO:0001583	missense	84975				transport	integral to membrane		g.chr12:53647929G>A	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.1310G>A	12.37:g.53647929G>A	ENSP00000332624:p.Arg437Gln					MFSD5_ENST00000329548.4_Missense_Mutation_p.R437Q	p.R544Q	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	1778	+			437					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.1631G>A	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147897	0.37923	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000329548	.	.	.	5.66	4.77	0.60923	Major facilitator superfamily domain, general substrate transporter (1);	0.065523	0.56097	D	0.000024	T	0.58722	0.2142	L	0.50333	1.59	0.46749	D	0.999188	P;D	0.56287	0.921;0.975	B;P	0.50860	0.131;0.652	T	0.54794	-0.8240	9	0.19147	T	0.46	-8.9085	13.7289	0.62776	0.0755:0.0:0.9245:0.0	.	437;544	Q6N075;G3V1N7	MFSD5_HUMAN;.	Q	451;544;437	.	ENSP00000332624:R437Q	R	+	2	0	MFSD5	51934196	1.000000	0.71417	0.992000	0.48379	0.246000	0.25737	2.771000	0.47670	1.379000	0.46325	0.655000	0.94253	CGG		0.547	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889		3	60	0	0	0	1	0	3	60				
RGAG1	57529	broad.mit.edu	37	X	109696777	109696777	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:109696777C>T	ENST00000465301.2	+	3	3178	c.2932C>T	c.(2932-2934)Ccg>Tcg	p.P978S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P978S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	978										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGTCTATGCCGCTAATGGA	0.502																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2932-2934)Ccg>Tcg		retrotransposon gag domain containing 1							164.0	149.0	154.0					X																	109696777		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109696777C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2932C>T	X.37:g.109696777C>T	ENSP00000419786:p.Pro978Ser					RGAG1_ENST00000540313.1_Missense_Mutation_p.P978S	p.P978S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	3178	+			978					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.2932C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	4.001	-0.002549	0.07819	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.56776	0.44;0.44	3.89	3.02	0.34903	.	.	.	.	.	T	0.49830	0.1580	M	0.71036	2.16	0.09310	N	0.999999	P	0.43973	0.823	B	0.39738	0.308	T	0.41875	-0.9484	8	.	.	.	-6.0477	8.6271	0.33897	0.0:0.8811:0.0:0.1189	.	978	Q8NET4	RGAG1_HUMAN	S	978	ENSP00000419786:P978S;ENSP00000441452:P978S	.	P	+	1	0	RGAG1	109583433	0.034000	0.19679	0.025000	0.17156	0.028000	0.11728	0.540000	0.23191	0.990000	0.38787	0.600000	0.82982	CCG		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		4	186	0	0	0	1	0	4	186				
AGTR2	186	broad.mit.edu	37	X	115304314	115304314	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:115304314G>C	ENST00000371906.4	+	3	971	c.781G>C	c.(781-783)Gtt>Ctt	p.V261L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	261					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	GGCAGCTGCTGTTGTTCTGGC	0.463																																						ENST00000371906.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						c.(781-783)Gtt>Ctt		angiotensin II receptor, type 2							243.0	168.0	194.0					X																	115304314		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304314G>C	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.781G>C	X.37:g.115304314G>C	ENSP00000360973:p.Val261Leu						p.V261L	NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN			3	971	+			261					B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.781G>C	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969776	0.53614	.	.	ENSG00000180772	ENST00000371906	T	0.42131	0.98	4.78	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.065300	0.64402	D	0.000009	T	0.48502	0.1503	L	0.52011	1.625	0.35468	D	0.797083	P	0.51240	0.943	P	0.59221	0.854	T	0.59343	-0.7472	10	0.72032	D	0.01	-12.3392	4.9885	0.14202	0.1073:0.0:0.6812:0.2115	.	261	P50052	AGTR2_HUMAN	L	261	ENSP00000360973:V261L	ENSP00000360973:V261L	V	+	1	0	AGTR2	115218342	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	4.405000	0.59741	0.982000	0.38575	0.506000	0.49869	GTT		0.463	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		27	55	0	0	0	1	0	27	55				
PPP1R3A	5506	broad.mit.edu	37	7	113518984	113518984	+	Silent	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:113518984A>G	ENST00000284601.3	-	4	2231	c.2163T>C	c.(2161-2163)atT>atC	p.I721I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	721					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTCTCAGTAATGCCATGAT	0.388																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2161-2163)atT>atC		protein phosphatase 1, regulatory subunit 3A							179.0	173.0	175.0					7																	113518984		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113518984A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2163T>C	7.37:g.113518984A>G							p.I721I	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2231	-			721					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.2163T>C	CCDS5759.1																																																																																				0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		44	91	0	0	0	1	0	44	91				
POLD1	5424	broad.mit.edu	37	19	50918151	50918151	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:50918151G>A	ENST00000440232.2	+	20	2521	c.2468G>A	c.(2467-2469)cGc>cAc	p.R823H	POLD1_ENST00000595904.1_Missense_Mutation_p.R849H|POLD1_ENST00000599857.1_Missense_Mutation_p.R823H|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	823					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCACGACCGCATGGACTGC	0.662								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2467-2469)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							50.0	46.0	47.0					19																	50918151		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50918151G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2468G>A	19.37:g.50918151G>A	ENSP00000406046:p.Arg823His		OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973	POLD1_ENST00000595904.1_Missense_Mutation_p.R849H|POLD1_ENST00000599857.1_Missense_Mutation_p.R823H	p.R823H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	20	2521	+		all_neural(266;0.0571)	823					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2468G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911147	0.52439	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18016	2.24	4.81	2.21	0.28008	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.222293	0.35585	N	0.003118	T	0.10294	0.0252	N	0.25789	0.76	0.33831	D	0.630231	B;B	0.20052	0.041;0.041	B;B	0.18871	0.016;0.023	T	0.07347	-1.0777	10	0.66056	D	0.02	-12.4618	4.9577	0.14050	0.4237:0.0:0.5763:0.0	.	849;823	E7EVW0;P28340	.;DPOD1_HUMAN	H	823;824	ENSP00000406046:R823H	ENSP00000366129:R824H	R	+	2	0	POLD1	55609963	1.000000	0.71417	0.999000	0.59377	0.490000	0.33462	3.533000	0.53561	1.156000	0.42514	0.537000	0.68136	CGC		0.662	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	36	0	0	0	1	0	3	36				
OR10K1	391109	broad.mit.edu	37	1	158436010	158436010	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:158436010G>A	ENST00000289451.2	+	1	739	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R220H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTACATCCGCATCATCTCT	0.478																																						ENST00000289451.2																			1	Substitution - Missense(1)	p.R220H(1)	pancreas(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(658-660)cGc>cAc		olfactory receptor, family 10, subfamily K, member 1							127.0	117.0	121.0					1																	158436010		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436010G>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.659G>A	1.37:g.158436010G>A	ENSP00000289451:p.Arg220His						p.R220H	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	739	+	all_hematologic(112;0.0378)		220					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.659G>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	1.889	-0.455979	0.04540	.	.	ENSG00000173285	ENST00000289451	T	0.00107	8.72	4.24	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.990047	0.08200	N	0.982456	T	0.00012	0.0000	N	0.04820	-0.15	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.01608	-1.1313	10	0.15066	T	0.55	.	4.5418	0.12061	0.4879:0.0:0.2528:0.2593	.	220	Q8NGX5	O10K1_HUMAN	H	220	ENSP00000289451:R220H	ENSP00000289451:R220H	R	+	2	0	OR10K1	156702634	0.000000	0.05858	0.020000	0.16555	0.187000	0.23431	-2.460000	0.00999	-0.778000	0.04566	-0.233000	0.12211	CGC		0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			10	61	0	0	0	1	0	10	61				
RUVBL2	10856	broad.mit.edu	37	19	49513785	49513785	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:49513785G>A	ENST00000595090.1	+	9	1168	c.704G>A	c.(703-705)cGc>cAc	p.R235H	RUVBL2_ENST00000601968.1_Missense_Mutation_p.R190H|RUVBL2_ENST00000413176.2_Missense_Mutation_p.R190H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	235					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTCCAGAAACGCAAGGAGGTG	0.647																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(568-570)cGc>cAc		RuvB-like AAA ATPase 2							116.0	126.0	123.0					19																	49513785		2092	4188	6280	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49513785G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.704G>A	19.37:g.49513785G>A	ENSP00000473172:p.Arg235His					RUVBL2_ENST00000601968.1_Missense_Mutation_p.R190H|RUVBL2_ENST00000595090.1_Missense_Mutation_p.R235H	p.R190H			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	9	1717	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	235					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.569G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405841	0.96051	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.49139	0.79	4.9	4.9	0.64082	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	H	0.97564	4.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87215	0.2250	10	0.87932	D	0	-22.1273	15.9488	0.79817	0.0:0.0:1.0:0.0	.	235;201	Q9Y230;B3KNL2	RUVB2_HUMAN;.	H	235;190	ENSP00000413890:R190H	ENSP00000221413:R235H	R	+	2	0	RUVBL2	54205597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.108000	0.77055	2.446000	0.82766	0.650000	0.86243	CGC		0.647	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			5	90	0	0	0	1	0	5	90				
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11.0	16.0	14.0					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	16	0	0	0	1	0	3	16				
MYLK	4638	broad.mit.edu	37	3	123375992	123375992	+	Silent	SNP	C	C	T	rs574785619		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:123375992C>T	ENST00000475616.1	-	21	4268	c.4269G>A	c.(4267-4269)acG>acA	p.T1423T	MYLK_ENST00000346322.5_Silent_p.T1354T|MYLK_ENST00000354792.5_Silent_p.T223T|MYLK_ENST00000359169.1_Silent_p.T1423T|MYLK_ENST00000360304.3_Silent_p.T1423T|MYLK_ENST00000360772.3_Silent_p.T1423T			Q15746	MYLK_HUMAN	myosin light chain kinase	1423	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCTCCTACCGTTGTGAGTT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		22533	0.0		0.0	False		,,,				2504	0.001					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4267-4269)acG>acA		myosin light chain kinase							144.0	134.0	137.0					3																	123375992		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123375992C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4269G>A	3.37:g.123375992C>T						MYLK_ENST00000360304.3_Silent_p.T1423T|MYLK_ENST00000359169.1_Silent_p.T1423T|MYLK_ENST00000346322.5_Silent_p.T1354T|MYLK_ENST00000354792.5_Silent_p.T223T|MYLK_ENST00000475616.1_Silent_p.T1423T	p.T1423T			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	25	4647	-		Lung NSC(201;0.0496)	1423			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.4269G>A	CCDS46896.1																																																																																				0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		22	58	0	0	0	1	0	22	58				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			5	167	0	0	0	1	0	5	167				
POTEG	404785	broad.mit.edu	37	14	19553674	19553674	+	Silent	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:19553674C>T	ENST00000409832.3	+	1	310	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	86										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGACCACGACGACTCTG	0.602																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(256-258)caC>caT		POTE ankyrin domain family, member G							77.0	99.0	92.0					14																	19553674		1955	4003	5958	SO:0001819	synonymous_variant	404785							g.chr14:19553674C>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.258C>T	14.37:g.19553674C>T							p.H86H	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	310	+			86					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.258C>T	CCDS32018.1																																																																																				0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		11	548	0	0	0	1	0	11	548				
MAP7D3	79649	broad.mit.edu	37	X	135313000	135313000	+	Silent	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:135313000A>G	ENST00000316077.9	-	9	1759	c.1539T>C	c.(1537-1539)acT>acC	p.T513T	MAP7D3_ENST00000370663.5_Silent_p.T495T|MAP7D3_ENST00000370661.1_Silent_p.T478T|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	513					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)					CTGCTTACTTAGTGCTGATGG	0.393																																						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.(1537-1539)acT>acC		MAP7 domain containing 3							153.0	131.0	138.0					X																	135313000		1975	4144	6119	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135313000A>G	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.1539T>C	X.37:g.135313000A>G						MAP7D3_ENST00000370663.5_Silent_p.T495T|MAP7D3_ENST00000370661.1_Silent_p.T478T	p.T513T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			9	1759	-	Acute lymphoblastic leukemia(192;0.000127)		513					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.1539T>C	CCDS44004.1																																																																																				0.393	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			15	57	0	0	0	1	0	15	57				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	66	0	0	0	1	0	25	66				
NT5C1A	84618	broad.mit.edu	37	1	40137623	40137623	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:40137623C>T	ENST00000235628.1	-	1	87	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	30					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAAATCTTGGCTTCCTCCCAG	0.662																																						ENST00000235628.1																			0				breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15						c.(88-90)Gcc>Acc		5'-nucleotidase, cytosolic IA							64.0	69.0	67.0					1																	40137623		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40137623C>T	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.88G>A	1.37:g.40137623C>T	ENSP00000235628:p.Ala30Thr						p.A30T	NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	87	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	30					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.88G>A	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276690	0.59758	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.02	3.07	0.35406	.	0.577871	0.15439	N	0.262278	T	0.40171	0.1106	L	0.36672	1.1	0.37244	D	0.906274	P	0.41420	0.749	B	0.41510	0.359	T	0.27606	-1.0069	9	0.07482	T	0.82	-4.4419	11.2008	0.48741	0.0:0.9047:0.0:0.0953	.	30	Q9BXI3	5NT1A_HUMAN	T	30	.	ENSP00000235628:A30T	A	-	1	0	NT5C1A	39910210	0.964000	0.33143	0.998000	0.56505	0.848000	0.48234	1.502000	0.35704	0.978000	0.38470	0.655000	0.94253	GCC		0.662	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		15	74	0	0	0	1	0	15	74				
SCN11A	11280	broad.mit.edu	37	3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:38892224C>T	ENST00000302328.3	-	25	4273	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M|SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1359M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1359					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCGAACACGAGACCTTGA	0.308																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4075-4077)Gtg>Atg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						116.0	108.0	110.0					3																	38892224		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38892224C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4075G>A	3.37:g.38892224C>T	ENSP00000307599:p.Val1359Met					SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M|SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000302328.3_Missense_Mutation_p.V1359M	p.V1359M			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	25	4273	-			1359					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4075G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	5.739	0.320727	0.10845	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96554	-4.05;-4.05;-4.03;-3.89	4.98	4.11	0.48088	.	0.188740	0.46758	D	0.000276	D	0.91418	0.7292	M	0.62723	1.935	0.09310	N	0.999999	P	0.39737	0.685	B	0.24541	0.054	D	0.86277	0.1665	10	0.51188	T	0.08	.	2.6874	0.05111	0.1337:0.4982:0.209:0.159	.	1359	Q9UI33	SCNBA_HUMAN	M	1359;1359;1321;1359	ENSP00000307599:V1359M;ENSP00000400945:V1359M;ENSP00000416757:V1321M;ENSP00000408028:V1359M	ENSP00000307599:V1359M	V	-	1	0	SCN11A	38867228	0.000000	0.05858	0.507000	0.27676	0.171000	0.22731	-0.517000	0.06275	1.228000	0.43614	0.655000	0.94253	GTG		0.308	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		11	34	0	0	0	1	0	11	34				
TAPT1	202018	broad.mit.edu	37	4	16215462	16215462	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:16215462T>G	ENST00000405303.2	-	2	342	c.259A>C	c.(259-261)Aat>Cat	p.N87H	TAPT1_ENST00000399920.3_Intron|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	87					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTGGCCTCATTATGTTCAAGG	0.353																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.(259-261)Aat>Cat		transmembrane anterior posterior transformation 1							151.0	147.0	148.0					4																	16215462		1842	4091	5933	SO:0001583	missense	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16215462T>G	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.259A>C	4.37:g.16215462T>G	ENSP00000385347:p.Asn87His					TAPT1_ENST00000399920.3_Intron|TAPT1_ENST00000508888.1_5'UTR	p.N87H	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			2	342	-			87					Q8N2S3|Q9NZK9	Missense_Mutation	SNP	ENST00000405303.2	37	c.259A>C	CCDS47030.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587333	0.86851	.	.	ENSG00000169762	ENST00000405303;ENST00000542770	T	0.32515	1.45	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.43621	-0.9380	10	0.52906	T	0.07	-24.3909	15.1969	0.73100	0.0:0.0:0.0:1.0	.	87	Q6NXT6	TAPT1_HUMAN	H	87	ENSP00000385347:N87H	ENSP00000385347:N87H	N	-	1	0	TAPT1	15824560	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.539000	0.82063	2.064000	0.61679	0.443000	0.29094	AAT		0.353	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		5	43	0	0	0	1	0	5	43				
KIF2B	84643	broad.mit.edu	37	17	51900741	51900741	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:51900741T>G	ENST00000268919.4	+	1	503	c.347T>G	c.(346-348)gTt>gGt	p.V116G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	116					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGAAATGGGTTGCGATGATC	0.602																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(346-348)gTt>gGt		kinesin family member 2B							75.0	79.0	78.0					17																	51900741		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900741T>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.347T>G	17.37:g.51900741T>G	ENSP00000268919:p.Val116Gly						p.V116G	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	503	+			116					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.347T>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.321899	0.01320	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73789	-0.78	5.11	2.76	0.32466	.	1.626690	0.03983	N	0.293563	T	0.62011	0.2393	L	0.34521	1.04	0.09310	N	1	B	0.25563	0.129	B	0.23275	0.045	T	0.47315	-0.9127	10	0.22109	T	0.4	.	4.0068	0.09605	0.0:0.1837:0.1808:0.6355	.	116	Q8N4N8	KIF2B_HUMAN	G	116;39	ENSP00000268919:V116G	ENSP00000268919:V116G	V	+	2	0	KIF2B	49255740	0.004000	0.15560	0.074000	0.20217	0.009000	0.06853	0.142000	0.16096	1.064000	0.40671	0.533000	0.62120	GTT		0.602	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		28	63	0	0	0	1	0	28	63				
CDC7	8317	broad.mit.edu	37	1	91978676	91978676	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:91978676A>C	ENST00000428239.1	+	7	893	c.634A>C	c.(634-636)Aaa>Caa	p.K212Q	CDC7_ENST00000430031.2_Missense_Mutation_p.K184Q|CDC7_ENST00000234626.6_Missense_Mutation_p.K212Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGAGCTTCTTAAATTTGTCCA	0.408																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(634-636)Aaa>Caa		cell division cycle 7							65.0	68.0	67.0					1																	91978676		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91978676A>C	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.634A>C	1.37:g.91978676A>C	ENSP00000393139:p.Lys212Gln					CDC7_ENST00000430031.2_Missense_Mutation_p.K184Q|CDC7_ENST00000234626.6_Missense_Mutation_p.K212Q	p.K212Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	7	893	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	212			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.634A>C	CCDS734.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132577	0.77662	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.52983	0.64;0.81;0.81	5.54	5.54	0.83059	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043993	0.85682	D	0.000000	T	0.43875	0.1267	N	0.20685	0.6	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46303	-0.9201	10	0.35671	T	0.21	-19.3033	15.6763	0.77326	1.0:0.0:0.0:0.0	.	184;212	B7Z5H7;O00311	.;CDC7_HUMAN	Q	184;212;212	ENSP00000407477:K184Q;ENSP00000234626:K212Q;ENSP00000393139:K212Q	ENSP00000234626:K212Q	K	+	1	0	CDC7	91751264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.591000	0.74090	2.086000	0.62901	0.460000	0.39030	AAA		0.408	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		4	52	0	0	0	1	0	4	52				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		5	98	0	0	0	1	0	5	98				
MYO5C	55930	broad.mit.edu	37	15	52521388	52521388	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr15:52521388T>C	ENST00000261839.7	-	25	3310	c.3149A>G	c.(3148-3150)gAg>gGg	p.E1050G		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1050						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGTGACGTGCTCCCCCTCCAC	0.522																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3148-3150)gAg>gGg		myosin VC							133.0	131.0	132.0					15																	52521388		1929	4119	6048	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52521388T>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3149A>G	15.37:g.52521388T>C	ENSP00000261839:p.Glu1050Gly						p.E1050G	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	25	3310	-			1050					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.3149A>G	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	3.580	-0.085825	0.07097	.	.	ENSG00000128833	ENST00000261839	T	0.19532	2.14	5.88	2.29	0.28610	.	0.185231	0.46442	N	0.000285	T	0.09335	0.0230	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24548	-1.0157	10	0.19590	T	0.45	.	9.0056	0.36109	0.0:0.2163:0.0:0.7837	.	1050	Q9NQX4	MYO5C_HUMAN	G	1050	ENSP00000261839:E1050G	ENSP00000261839:E1050G	E	-	2	0	MYO5C	50308680	0.942000	0.31987	0.030000	0.17652	0.004000	0.04260	1.099000	0.31013	0.129000	0.18514	-0.280000	0.10049	GAG		0.522	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		4	169	0	0	0	1	0	4	169				
EEF1DP3	196549	broad.mit.edu	37	13	32526951	32526951	+	RNA	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr13:32526951G>A	ENST00000428783.1	+	0	651							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										CAGCGAGCTCGTCGTCCGGAT	0.642																																						ENST00000428783.1																			0																				24.0	27.0	26.0					13																	32526951		692	1591	2283			0							g.chr13:32526951G>A			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32526951G>A														0	651	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.642	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		3	7	0	0	0	1	0	3	7				
GNAI1	2770	broad.mit.edu	37	7	79846748	79846748	+	Missense_Mutation	SNP	T	T	C	rs552102809		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:79846748T>C	ENST00000351004.3	+	8	1377	c.1004T>C	c.(1003-1005)gTt>gCt	p.V335A	GNAI1_ENST00000457358.2_Missense_Mutation_p.V283A	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	335					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTGCAGTTTGTTTTTGATGCT	0.318																																						ENST00000351004.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1003-1005)gTt>gCt		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1							130.0	118.0	122.0					7																	79846748		2203	4300	6503	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79846748T>C	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.1004T>C	7.37:g.79846748T>C	ENSP00000343027:p.Val335Ala					GNAI1_ENST00000457358.2_Missense_Mutation_p.V283A	p.V335A	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN			8	1377	+			335					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.1004T>C	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098962	0.76870	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.90197	-2.63;-2.63	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	M	0.91140	3.18	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96975	0.9711	9	.	.	.	.	16.3245	0.82970	0.0:0.0:0.0:1.0	.	335	P63096	GNAI1_HUMAN	A	335;283	ENSP00000343027:V335A;ENSP00000410572:V283A	.	V	+	2	0	GNAI1	79684684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.460000	0.39030	GTT		0.318	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		4	65	0	0	0	1	0	4	65				
NABP2	79035	broad.mit.edu	37	12	56622879	56622879	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr12:56622879A>C	ENST00000380198.2	+	6	1016	c.518A>C	c.(517-519)cAc>cCc	p.H173P	NABP2_ENST00000267023.4_Missense_Mutation_p.H173P|NABP2_ENST00000341463.5_Missense_Mutation_p.H173P|SLC39A5_ENST00000454355.2_5'Flank|SLC39A5_ENST00000266980.4_5'Flank			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	173	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										ACTCCCTCCCACCCACCCAGC	0.612																																						ENST00000380198.2																			0											c.(517-519)cAc>cCc		nucleic acid binding protein 2							23.0	25.0	24.0					12																	56622879		2203	4300	6503	SO:0001583	missense	79035							g.chr12:56622879A>C	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.518A>C	12.37:g.56622879A>C	ENSP00000369545:p.His173Pro					NABP2_ENST00000341463.5_Missense_Mutation_p.H173P|NABP2_ENST00000267023.4_Missense_Mutation_p.H173P	p.H173P							6	1016	+								A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.518A>C	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.022733	0.54683	.	.	ENSG00000139579	ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.31247	1.5;1.5;1.5	5.17	5.17	0.71159	.	0.087877	0.44688	D	0.000429	T	0.41581	0.1165	L	0.38531	1.155	0.34679	D	0.72447	D	0.57571	0.98	D	0.64321	0.924	T	0.51779	-0.8662	9	.	.	.	-17.338	12.8351	0.57770	1.0:0.0:0.0:0.0	.	173	Q9BQ15	SOSB1_HUMAN	P	173	ENSP00000267023:H173P;ENSP00000369545:H173P;ENSP00000368862:H173P	.	H	+	2	0	OBFC2B	54909146	1.000000	0.71417	0.896000	0.35187	0.331000	0.28603	5.409000	0.66374	2.096000	0.63516	0.533000	0.62120	CAC		0.612	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		7	15	0	0	0	1	0	7	15				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	87	0	0	0	1	0	4	87				
SH3PXD2A	9644	broad.mit.edu	37	10	105362427	105362427	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr10:105362427C>T	ENST00000369774.4	-	15	2824	c.2548G>A	c.(2548-2550)Gcc>Acc	p.A850T	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A717T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A685T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A822T|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	850	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCTGGTAGGCGCTGCATGTC	0.617																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2548-2550)Gcc>Acc		SH3 and PX domains 2A							68.0	69.0	68.0					10																	105362427		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362427C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2548G>A	10.37:g.105362427C>T	ENSP00000358789:p.Ala850Thr					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A717T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A685T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A822T|SH3PXD2A_ENST00000427662.2_Intron	p.A850T			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2824	-		Colorectal(252;0.0815)|Breast(234;0.131)	850			SH3 4.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2548G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.328|3.328	-0.137227|-0.137227	0.06711|0.06711	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.50548|.	0.74;0.74;0.74;0.74|.	4.83|4.83	2.8|2.8	0.32819|0.32819	Src homology-3 domain (3);|.	0.629728|.	0.16897|.	N|.	0.195081|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.38953|0.38953	1.18|1.18	0.20638|0.20638	N|N	0.999874|0.999874	D;D;P;D|.	0.56746|.	0.977;0.977;0.53;0.972|.	P;P;B;B|.	0.45998|.	0.5;0.5;0.115;0.367|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.33940|.	T|.	0.23|.	-20.9225|-20.9225	6.4044|6.4044	0.21656|0.21656	0.4904:0.4188:0.0:0.0908|0.4904:0.4188:0.0:0.0908	.|.	850;699;695;822|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	T|H	850;822;657;765;717;685|776	ENSP00000358789:A850T;ENSP00000348215:A822T;ENSP00000443663:A717T;ENSP00000441514:A685T|.	ENSP00000318135:A657T|.	A|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105352417|105352417	0.022000|0.022000	0.18835|0.18835	0.786000|0.786000	0.31890|0.31890	0.642000|0.642000	0.38348|0.38348	0.254000|0.254000	0.18314|0.18314	1.020000|1.020000	0.39573|0.39573	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.617	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		16	33	0	0	0	1	0	16	33				
SIGIRR	59307	broad.mit.edu	37	11	408721	408721	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr11:408721G>A	ENST00000431843.2	-	3	486	c.180C>T	c.(178-180)ggC>ggT	p.G60G	SIGIRR_ENST00000332725.3_Silent_p.G60G|SIGIRR_ENST00000397632.3_Silent_p.G60G|SIGIRR_ENST00000531205.1_Silent_p.G60G|SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000382520.2_Silent_p.G60G	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	60	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGTAGTGGCCCCCAATTC	0.597																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(178-180)ggC>ggT		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							108.0	114.0	112.0					11																	408721		2203	4293	6496	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408721G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.180C>T	11.37:g.408721G>A						SIGIRR_ENST00000531205.1_Silent_p.G60G|SIGIRR_ENST00000382520.2_Silent_p.G60G|SIGIRR_ENST00000332725.3_Silent_p.G60G|SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000397632.3_Silent_p.G60G	p.G60G	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	486	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	60			Ig-like C2-type.		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.180C>T	CCDS31325.1																																																																																				0.597	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		71	112	0	0	0	1	0	71	112				
KIAA1244	57221	broad.mit.edu	37	6	138618038	138618038	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:138618038G>A	ENST00000251691.4	+	21	3760	c.3594G>A	c.(3592-3594)cgG>cgA	p.R1198R		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCAAAGCACGGCCCCTGCTCC	0.587																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(3592-3594)cgG>cgA		KIAA1244							104.0	98.0	100.0					6																	138618038		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138618038G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3594G>A	6.37:g.138618038G>A							p.R1198R	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	21	3760	+	Breast(32;0.135)		1198						Silent	SNP	ENST00000251691.4	37	c.3594G>A	CCDS5189.2																																																																																				0.587	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	95	0	0	0	1	0	5	95				
POTEM	641455	broad.mit.edu	37	14	20019963	20019963	+	Silent	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:20019963G>A	ENST00000551509.1	-	1	309	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	86										endometrium(4)|kidney(1)|lung(4)	9						CAGAGTCGTCGTGGTCTCCAG	0.612																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(256-258)caC>caT		POTE ankyrin domain family, member M							8.0	14.0	13.0					14																	20019963		310	1138	1448	SO:0001819	synonymous_variant	641455							g.chr14:20019963G>A		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.258C>T	14.37:g.20019963G>A							p.H86H	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	309	-			86						Silent	SNP	ENST00000551509.1	37	c.258C>T	CCDS45076.1																																																																																				0.612	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		30	430	0	0	0	1	0	30	430				
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1426*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAATACGTCGCCTTTTCTTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.R1426*(1)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4276-4278)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						236.0	201.0	213.0					X																	76909629		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909629G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4276C>T	X.37:g.76909629G>A	ENSP00000362441:p.Arg1426*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	p.R1426*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4490	-			1426					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4276C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	44	11.200502	0.99530	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	3.6	0.41247	.	0.079753	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8333	13.0038	0.58692	0.0:0.0:0.397:0.603	.	.	.	.	X	1426;1388	.	ENSP00000362441:R1426X	R	-	1	2	ATRX	76796285	0.991000	0.36638	0.982000	0.44146	0.683000	0.39861	1.747000	0.38298	0.544000	0.28883	0.502000	0.49764	CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		45	88	0	0	0	1	0	45	88				
TTC1	7265	broad.mit.edu	37	5	159437647	159437647	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:159437647A>G	ENST00000231238.5	+	2	222	c.112A>G	c.(112-114)Aat>Gat	p.N38D	Y_RNA_ENST00000362528.1_RNA|TTC1_ENST00000522793.1_Missense_Mutation_p.N38D	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	38					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGATCCCAAAAATCAGCATTC	0.507																																						ENST00000231238.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12						c.(112-114)Aat>Gat		tetratricopeptide repeat domain 1							57.0	57.0	57.0					5																	159437647		2203	4300	6503	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437647A>G	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.112A>G	5.37:g.159437647A>G	ENSP00000231238:p.Asn38Asp					TTC1_ENST00000522793.1_Missense_Mutation_p.N38D	p.N38D	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	222	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	38					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.112A>G	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.120184	0.00346	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.15139	2.45;2.45	4.97	3.1	0.35709	.	0.993222	0.08193	N	0.983446	T	0.03651	0.0104	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	10	0.07990	T	0.79	-10.2882	6.0392	0.19724	0.1073:0.1927:0.7:0.0	.	38	Q99614	TTC1_HUMAN	D	38	ENSP00000231238:N38D;ENSP00000429225:N38D	ENSP00000231238:N38D	N	+	1	0	TTC1	159370225	0.028000	0.19301	0.001000	0.08648	0.179000	0.23085	1.385000	0.34408	0.444000	0.26612	-0.375000	0.07067	AAT		0.507	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		3	22	0	0	0	1	0	3	22				
SLC25A47	283600	broad.mit.edu	37	14	100789764	100789764	+	Missense_Mutation	SNP	G	G	A	rs144140477		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:100789764G>A	ENST00000361529.3	+	1	91	c.13G>A	c.(13-15)Gct>Act	p.A5T	AL157871.1_ENST00000583404.1_RNA|SLC25A47_ENST00000557052.1_De_novo_Start_InFrame	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	5					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGATTTTGTCGCTGGAGCCAT	0.632																																					GBM(11;1289 1351)	ENST00000361529.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(13-15)Gct>Act		solute carrier family 25, member 47		G	THR/ALA	0,4406		0,0,2203	80.0	68.0	72.0		13	4.3	0.8	14	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC25A47	NM_207117.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	5/309	100789764	1,13005	2203	4300	6503	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100789764G>A		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.13G>A	14.37:g.100789764G>A	ENSP00000354886:p.Ala5Thr					SLC25A47_ENST00000557052.1_De_novo_Start_InFrame	p.A5T	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN			1	91	+			5					B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.13G>A	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176472	0.57692	0.0	1.16E-4	ENSG00000140107	ENST00000361529	D	0.82081	-1.57	4.3	4.3	0.51218	Mitochondrial carrier domain (2);	0.117485	0.56097	D	0.000029	D	0.91570	0.7337	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.93159	0.6556	10	0.87932	D	0	.	13.9781	0.64285	0.0:0.0:1.0:0.0	.	5	Q6Q0C1	S2547_HUMAN	T	5	ENSP00000354886:A5T	ENSP00000354886:A5T	A	+	1	0	SLC25A47	99859517	0.997000	0.39634	0.780000	0.31762	0.532000	0.34746	3.877000	0.56123	2.389000	0.81357	0.655000	0.94253	GCT		0.632	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			13	20	0	0	0	1	0	13	20				
TM2D1	83941	broad.mit.edu	37	1	62189460	62189461	+	Splice_Site	INS	-	-	A	rs147863719		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:62189460_62189461insA	ENST00000606498.1	-	2	185		c.e2-2		TM2D1_ENST00000371177.2_Splice_Site|TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000371180.2_Splice_Site			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CAAATATATGTAAAAAAAAAAG	0.302																																						ENST00000371177.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.e2-2		TM2 domain containing 1				125,3343		8,109,1617						5.0	1.0		dbSNP_134	54	57,7689		0,57,3816	no	splice-3	TM2D1	NM_032027.2		8,166,5433	A1A1,A1R,RR		0.7359,3.6044,1.623				182,11032				SO:0001630	splice_region_variant	83941				apoptosis			g.chr1:62189460_62189461insA	AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.165-2->T	1.37:g.62189470_62189470dupA						TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000606498.1_Intron|TM2D1_ENST00000371180.2_Splice_Site				Q9BX74	TM2D1_HUMAN			2	177	-								A6NDA8	Splice_Site	INS	ENST00000606498.1	37																																																																																						0.302	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027	Intron	2	4						2	4	---	---	---	---
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C	rs370090371|rs535247185		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441																																						ENST00000601658.1																			0																																																			0							g.chr2:149629672_149629673insC																													2.37:g.149629681_149629681dupC														0	676	-									RNA	INS	ENST00000601658.1	37																																																																																						0.441	AC105402.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000462024.1			2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577127	7577132	+	In_Frame_Del	DEL	CAAAGC	CAAAGC	-			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:7577127_7577132delCAAAGC	ENST00000269305.4	-	8	995_1000	c.806_811delGCTTTG	c.(805-813)agctttgag>aag	p.269_271SFE>K	TP53_ENST00000455263.2_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000445888.2_In_Frame_Del_p.269_271SFE>K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	269	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.F270L(24)|p.E271*(18)|p.F270C(15)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.S269N(4)|p.S269S(3)|p.G262_F270delGNLLGRNSF(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.G266_E271delGRNSFE(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269_F270insX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.S269fs*3(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACGCACCTCAAAGCTGTTCCGTCC	0.539		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		160	Substitution - Missense(105)|Substitution - Nonsense(18)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - coding silent(3)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(2)|Complex - insertion inframe(1)|Insertion - In frame(1)	p.E271K(28)|p.F270L(24)|p.E271*(18)|p.F270C(15)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.S269N(4)|p.S269S(3)|p.G262_F270delGNLLGRNSF(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.G266_E271delGRNSFE(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269_F270insX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.S269fs*3(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(22)|oesophagus(22)|lung(19)|large_intestine(17)|breast(17)|haematopoietic_and_lymphoid_tissue(11)|upper_aerodigestive_tract(10)|stomach(8)|ovary(6)|central_nervous_system(5)|liver(5)|biliary_tract(4)|bone(4)|cervix(2)|salivary_gland(2)|pancreas(2)|testis(1)|soft_tissue(1)|eye(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(805-813)aag>a	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127_7577132delCAAAGC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.806_811delGCTTTG	17.37:g.7577127_7577132delCAAAGC	ENSP00000269305:p.Ser269_Glu271delinsLys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_In_Frame_Del_p.SFE269del|TP53_ENST00000269305.4_In_Frame_Del_p.SFE269del|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.SFE269del|TP53_ENST00000445888.2_In_Frame_Del_p.SFE269del	p.SFE269del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	938_943	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	269		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.806_811delGCTTTG	CCDS11118.1																																																																																				0.539	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	13						8	13	---	---	---	---
