#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
ZFYVE26	23503	broad.mit.edu	37	14	68251787	68251787	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:68251787C>T	ENST00000347230.4	-	19	3650	c.3512G>A	c.(3511-3513)aGc>aAc	p.S1171N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1171N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1171					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGCTCAGAGCTCAAACTTTG	0.502																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(3511-3513)aGc>aAc		zinc finger, FYVE domain containing 26							160.0	169.0	166.0					14																	68251787		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68251787C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3512G>A	14.37:g.68251787C>T	ENSP00000251119:p.Ser1171Asn					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1171N	p.S1171N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	19	3650	-			1171					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.3512G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433157	0.25813	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26957	1.84;1.7	5.54	4.65	0.58169	.	0.189942	0.56097	D	0.000029	T	0.19446	0.0467	L	0.45137	1.4	0.27188	N	0.960492	B;B	0.11235	0.004;0.0	B;B	0.12156	0.007;0.003	T	0.20338	-1.0278	10	0.15952	T	0.53	-4.3092	8.7222	0.34447	0.0:0.8274:0.0:0.1726	.	1171;1171	G3V2D8;Q68DK2	.;ZFY26_HUMAN	N	1171;1150;1171	ENSP00000251119:S1171N;ENSP00000450603:S1171N	ENSP00000251119:S1171N	S	-	2	0	ZFYVE26	67321540	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	1.842000	0.39250	1.330000	0.45394	0.655000	0.94253	AGC		0.502	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		69	101	0	0	0	0.870114	0	69	101				
SMOC2	64094	broad.mit.edu	37	6	168947817	168947817	+	Missense_Mutation	SNP	C	C	A	rs377217277		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:168947817C>A	ENST00000356284.2	+	6	750	c.530C>A	c.(529-531)gCg>gAg	p.A177E	SMOC2_ENST00000354536.5_Missense_Mutation_p.A188E	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	177					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.A188G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCAGCTCCAGCGTTGGAGACT	0.522																																						ENST00000354536.5																			1	Substitution - Missense(1)	p.A188G(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(562-564)gCg>gAg		SPARC related modular calcium binding 2							147.0	140.0	142.0					6																	168947817		2203	4300	6503	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:168947817C>A	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.530C>A	6.37:g.168947817C>A	ENSP00000348630:p.Ala177Glu					SMOC2_ENST00000356284.2_Missense_Mutation_p.A177E	p.A188E	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	6	783	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	177					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.563C>A	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	.	11.59	1.683567	0.29872	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.36699	1.32;1.24	5.25	3.1	0.35709	.	0.158703	0.42294	D	0.000727	T	0.06735	0.0172	N	0.08118	0	0.28432	N	0.91721	B;P	0.41673	0.208;0.759	B;B	0.43301	0.182;0.415	T	0.26258	-1.0108	10	0.15066	T	0.55	-29.3497	6.66	0.23009	0.0:0.7255:0.0:0.2745	.	177;188	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	E	177;188;177	ENSP00000348630:A177E;ENSP00000346537:A188E	ENSP00000346537:A188E	A	+	2	0	SMOC2	168690666	0.995000	0.38212	0.014000	0.15608	0.602000	0.36980	2.372000	0.44257	0.352000	0.24053	0.579000	0.79373	GCG		0.522	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			4	148	1	0	0.00909568	0.150653	0.00930721	4	148				
SLCO1B1	10599	broad.mit.edu	37	12	21329781	21329781	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:21329781T>C	ENST00000256958.2	+	5	527	c.431T>C	c.(430-432)aTt>aCt	p.I144T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	144					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ACTTGTTTAATTAATCAAATT	0.274																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(430-432)aTt>aCt		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						79.0	79.0	79.0					12																	21329781		2201	4286	6487	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21329781T>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.431T>C	12.37:g.21329781T>C	ENSP00000256958:p.Ile144Thr						p.I144T	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			5	527	+			144					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.431T>C	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	1.332	-0.596609	0.03771	.	.	ENSG00000134538	ENST00000256958	T	0.35048	1.33	3.52	-3.75	0.04372	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.384340	0.00166	N	0.000006	T	0.15696	0.0378	N	0.03983	-0.305	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.18366	-1.0339	10	0.13108	T	0.6	.	7.5563	0.27827	0.0:0.6021:0.1748:0.2231	.	144	Q9Y6L6	SO1B1_HUMAN	T	144	ENSP00000256958:I144T	ENSP00000256958:I144T	I	+	2	0	SLCO1B1	21221048	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.468000	0.02350	-0.627000	0.05589	-0.904000	0.02843	ATT		0.274	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		39	41	0	0	0	0.812448	0	39	41				
DYNC1H1	1778	broad.mit.edu	37	14	102508452	102508452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:102508452A>G	ENST00000360184.4	+	66	12369	c.12205A>G	c.(12205-12207)Att>Gtt	p.I4069V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4069	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATCACTTCAATTGCAATCGG	0.537																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12205-12207)Att>Gtt		dynein, cytoplasmic 1, heavy chain 1							98.0	80.0	86.0					14																	102508452		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102508452A>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12205A>G	14.37:g.102508452A>G	ENSP00000348965:p.Ile4069Val					RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.I4069V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			66	12369	+			4069			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12205A>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	8.205	0.799126	0.16397	.	.	ENSG00000197102	ENST00000360184	T	0.07567	3.18	5.91	4.77	0.60923	Dynein heavy chain (1);	0.051584	0.85682	D	0.000000	T	0.08758	0.0217	L	0.49640	1.575	0.58432	D	0.999999	B	0.09022	0.002	B	0.17979	0.02	T	0.10064	-1.0646	10	0.09338	T	0.73	.	12.0778	0.53653	0.9328:0.0:0.0672:0.0	.	4069	Q14204	DYHC1_HUMAN	V	4069	ENSP00000348965:I4069V	ENSP00000348965:I4069V	I	+	1	0	DYNC1H1	101578205	1.000000	0.71417	0.006000	0.13384	0.238000	0.25445	5.303000	0.65738	1.057000	0.40506	0.533000	0.62120	ATT		0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		11	18	0	0	0	0.411799	0	11	18				
FMN2	56776	broad.mit.edu	37	1	240371067	240371067	+	Silent	SNP	C	C	A	rs373490785		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:240371067C>A	ENST00000319653.9	+	5	3185	c.2955C>A	c.(2953-2955)ggC>ggA	p.G985G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	985	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1128G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGGAGCGGGCATACCCCCTC	0.711																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.G1128G(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2953-2955)ggC>ggA		formin 2		C		3,4385		0,3,2191	15.0	17.0	17.0		2955	-5.5	0.0	1		17	1,8545		0,1,4272	no	coding-synonymous	FMN2	NM_020066.4		0,4,6463	AA,AC,CC		0.0117,0.0684,0.0309		985/1723	240371067	4,12930	2194	4273	6467	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371067C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2955C>A	1.37:g.240371067C>A							p.G985G	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3185	+	Ovarian(103;0.127)	all_cancers(173;0.013)	985			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2955C>A	CCDS31069.2																																																																																				0.711	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	13	1	0	6.4e-05	0.115264	6.70476e-05	3	13				
PRPH2	5961	broad.mit.edu	37	6	42690067	42690067	+	Silent	SNP	C	C	T	rs375969072		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:42690067C>T	ENST00000230381.5	-	1	245	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	2					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTTTCAGTAGCGCCATGCTTG	0.552																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(4-6)gcG>gcA		peripherin 2 (retinal degeneration, slow)							57.0	55.0	56.0					6																	42690067		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42690067C>T		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.6G>A	6.37:g.42690067C>T							p.A2A	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	245	-	Colorectal(47;0.196)		2					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.6G>A	CCDS4871.1																																																																																				0.552	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		3	44	0	0	0	0.115264	0	3	44				
MAP2K3	5606	broad.mit.edu	37	17	21217496	21217496	+	Missense_Mutation	SNP	C	C	T	rs35755743		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:21217496C>T	ENST00000342679.4	+	12	1247	c.998C>T	c.(997-999)aCg>aTg	p.T333M	MAP2K3_ENST00000316920.6_Missense_Mutation_p.T304M|MAP2K3_ENST00000361818.5_Missense_Mutation_p.T304M	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	333					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACCAAGAAGACGGACATTGCT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19381	0.0		0.001	False		,,,				2504	0.0					ENST00000342679.4																			0											c.(997-999)aCg>aTg		mitogen-activated protein kinase kinase 3		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	336.0	323.0	328.0		911,998	5.0	0.9	17	dbSNP_126	328	0,8600		0,0,4300	no	missense,missense	MAP2K3	NM_002756.4,NM_145109.2	81,81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	304/319,333/348	21217496	2,13004	2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21217496C>T	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.998C>T	17.37:g.21217496C>T	ENSP00000345083:p.Thr333Met					MAP2K3_ENST00000361818.5_Missense_Mutation_p.T304M|MAP2K3_ENST00000316920.6_Missense_Mutation_p.T304M	p.T333M	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	12	1247	+			333					B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.998C>T	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508264	0.85282	4.54E-4	0.0	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.73047	-0.71;-0.69	5.0	5.0	0.66597	.	0.000000	0.53938	D	0.000041	T	0.75302	0.3831	M	0.63428	1.95	0.80722	D	1	D	0.62365	0.991	P	0.48795	0.59	T	0.79107	-0.1939	10	0.59425	D	0.04	-18.076	18.2864	0.90115	0.0:1.0:0.0:0.0	rs35755743	333	P46734	MP2K3_HUMAN	M	333;304;304;337	ENSP00000345083:T333M;ENSP00000355081:T304M	ENSP00000319139:T337M	T	+	2	0	MAP2K3	21158089	1.000000	0.71417	0.917000	0.36280	0.713000	0.41058	7.099000	0.76981	2.304000	0.77564	0.491000	0.48974	ACG		0.617	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		65	300	0	0	0	0.870114	0	65	300				
SLIT2	9353	broad.mit.edu	37	4	20490510	20490510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr4:20490510G>A	ENST00000504154.1	+	8	932	c.680G>A	c.(679-681)aGg>aAg	p.R227K	SLIT2_ENST00000503837.1_Missense_Mutation_p.R227K|SLIT2_ENST00000503823.1_Missense_Mutation_p.R227K|SLIT2_ENST00000273739.5_Missense_Mutation_p.R227K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	227	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTCGCCAAAGGCCTCGGGTT	0.498																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(679-681)aGg>aAg		slit homolog 2 (Drosophila)							150.0	159.0	156.0					4																	20490510		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20490510G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.680G>A	4.37:g.20490510G>A	ENSP00000422591:p.Arg227Lys					SLIT2_ENST00000503837.1_Missense_Mutation_p.R227K|SLIT2_ENST00000503823.1_Missense_Mutation_p.R227K|SLIT2_ENST00000273739.5_Missense_Mutation_p.R227K	p.R227K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			8	932	+			227			LRRCT 1.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.680G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614164	0.46631	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80393	-1.36;-1.37;-1.27;-1.32	5.43	5.43	0.79202	Cysteine-rich flanking region, C-terminal (1);	0.088559	0.64402	D	0.000001	D	0.86611	0.5974	M	0.64260	1.97	0.80722	D	1	D;P	0.54047	0.964;0.752	P;P	0.58454	0.839;0.507	D	0.84106	0.0398	10	0.29301	T	0.29	.	19.2563	0.93947	0.0:0.0:1.0:0.0	.	227;227	O94813-3;O94813	.;SLIT2_HUMAN	K	227	ENSP00000427548:R227K;ENSP00000422591:R227K;ENSP00000273739:R227K;ENSP00000422261:R227K	ENSP00000273739:R227K	R	+	2	0	SLIT2	20099608	1.000000	0.71417	0.606000	0.28943	0.003000	0.03518	9.813000	0.99286	2.545000	0.85829	0.462000	0.41574	AGG		0.498	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			31	154	0	0	0	0.796494	0	31	154				
TMC6	11322	broad.mit.edu	37	17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T	rs199724291		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:76116777C>T	ENST00000590602.1	-	13	1831	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	558					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		16250	0.0		0.001	False		,,,				2504	0.0					ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1672-1674)Gtc>Atc		transmembrane channel-like 6		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167.0	159.0	162.0		1672,1672	-9.1	0.0	17		162	0,8600		0,0,4300	yes	missense,missense	TMC6	NM_007267.6,NM_001127198.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	558/806,558/806	76116777	1,13005	2203	4300	6503	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76116777C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1672G>A	17.37:g.76116777C>T	ENSP00000465261:p.Val558Ile					TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000589553.1_3'UTR	p.V558I			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		13	1831	-			558					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1672G>A	CCDS32748.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.008	-1.888457	0.00527	2.27E-4	0.0	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000392466	T;T	0.62639	0.01;0.01	4.55	-9.11	0.00711	.	0.503810	0.20929	N	0.083140	T	0.18425	0.0442	N	0.02391	-0.57	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.60954	-0.7160	10	0.02654	T	1	-8.9684	1.8191	0.03106	0.169:0.1482:0.3384:0.3443	.	558;558	B3KTU5;Q7Z403	.;TMC6_HUMAN	I	558;558;20	ENSP00000313408:V558I;ENSP00000376260:V558I	ENSP00000313408:V558I	V	-	1	0	TMC6	73628372	0.011000	0.17503	0.002000	0.10522	0.004000	0.04260	-1.158000	0.03153	-4.063000	0.00077	-1.474000	0.01003	GTC		0.637	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			29	106	0	0	0	0.717897	0	29	106				
LAMA2	3908	broad.mit.edu	37	6	129419503	129419503	+	Silent	SNP	T	T	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:129419503T>C	ENST00000421865.2	+	4	631	c.582T>C	c.(580-582)gaT>gaC	p.D194D		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	194	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCCAAAGATGATGAGGTCA	0.443																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(580-582)gaT>gaC		laminin, alpha 2							83.0	77.0	79.0					6																	129419503		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129419503T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.582T>C	6.37:g.129419503T>C							p.D194D	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	4	631	+			194			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.582T>C	CCDS5138.1																																																																																				0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			9	60	0	0	0	0.307466	0	9	60				
CEACAM5	1048	broad.mit.edu	37	19	42224879	42224879	+	Silent	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr19:42224879G>A	ENST00000221992.6	+	8	1923	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.S602S|CEACAM5_ENST00000405816.1_Silent_p.S603S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	603	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCAGACTCGTCTTACCTTT	0.547																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1807-1809)tcG>tcA		carcinoembryonic antigen-related cell adhesion molecule 5							138.0	138.0	138.0					19																	42224879		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224879G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1809G>A	19.37:g.42224879G>A						CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.S603S|CEACAM5_ENST00000398599.4_Silent_p.S602S	p.S603S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1923	+			603			Ig-like 7.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1809G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.575082	0.03882	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.17	-4.33	0.03677	.	.	.	.	.	T	0.17195	0.0413	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.06445	-1.0826	4	.	.	.	.	0.4271	0.00465	0.214:0.1742:0.2931:0.3187	.	.	.	.	I	599	.	.	V	+	1	0	CEACAM5	46916719	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.056000	0.00304	-3.721000	0.00115	-1.510000	0.00946	GTC		0.547	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		45	63	0	0	0	0.847076	0	45	63				
ITGAD	3681	broad.mit.edu	37	16	31419095	31419095	+	Silent	SNP	C	C	T	rs373776239	byFrequency	TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:31419095C>T	ENST00000389202.2	+	9	916	c.867C>T	c.(865-867)caC>caT	p.H289H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	289	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGTGGGACACGCTTTCCAGG	0.617													c|||	12	0.00239617	0.0	0.0	5008	,	,		17952	0.0119		0.0	False		,,,				2504	0.0					ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(865-867)caC>caT		integrin, alpha D							45.0	40.0	41.0					16																	31419095		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31419095C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.867C>T	16.37:g.31419095C>T							p.H289H	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			9	916	+			289			VWFA.		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.867C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	c	0.162	-1.079957	0.01888	.	.	ENSG00000156886	ENST00000316569	.	.	.	4.97	-1.68	0.08212	.	.	.	.	.	T	0.43144	0.1234	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11470	-1.0586	7	0.87932	D	0	.	5.6623	0.17676	0.0:0.248:0.4227:0.3293	.	322	B7Z6V7	.	C	186	.	ENSP00000323325:R186C	R	+	1	0	ITGAD	31326596	0.000000	0.05858	0.446000	0.26920	0.102000	0.19082	-1.068000	0.03447	-0.669000	0.05289	-1.287000	0.01368	CGC		0.617	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		17	21	0	0	0	0.557998	0	17	21				
ENPP2	5168	broad.mit.edu	37	8	120596283	120596283	+	Silent	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:120596283A>G	ENST00000075322.6	-	16	1432	c.1374T>C	c.(1372-1374)ccT>ccC	p.P458P	ENPP2_ENST00000522167.1_Silent_p.P97P|ENPP2_ENST00000427067.2_Silent_p.P454P|ENPP2_ENST00000522826.1_Silent_p.P458P|ENPP2_ENST00000259486.6_Silent_p.P510P	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	458					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAACATCCAAAGGTTTCCTAA	0.348																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(1360-1362)ccT>ccC		ectonucleotide pyrophosphatase/phosphodiesterase 2							119.0	122.0	121.0					8																	120596283		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120596283A>G	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1374T>C	8.37:g.120596283A>G						ENPP2_ENST00000522826.1_Silent_p.P458P|ENPP2_ENST00000522167.1_Silent_p.P97P|ENPP2_ENST00000259486.6_Silent_p.P510P|ENPP2_ENST00000075322.6_Silent_p.P458P	p.P454P			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		16	1542	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		458					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.1362T>C	CCDS34936.1																																																																																				0.348	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			66	61	0	0	0	0.870114	0	66	61				
MAGEC1	9947	broad.mit.edu	37	X	140995655	140995655	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:140995655C>T	ENST00000285879.4	+	4	2751	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	822										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCACTTCATCGAGTCTT	0.562										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2464-2466)tCa>tTa		melanoma antigen family C, 1							138.0	143.0	141.0					X																	140995655		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995655C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2465C>T	X.37:g.140995655C>T	ENSP00000285879:p.Ser822Leu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S822L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2751	+	Acute lymphoblastic leukemia(192;6.56e-05)		822					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2465C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	9.744	1.165696	0.21538	.	.	ENSG00000155495	ENST00000285879	T	0.02345	4.33	2.1	1.18	0.20946	.	.	.	.	.	T	0.01029	0.0034	N	0.03608	-0.345	0.09310	N	1	P	0.42584	0.784	B	0.25884	0.064	T	0.50004	-0.8878	9	0.39692	T	0.17	.	4.9555	0.14036	0.0:0.6342:0.0:0.3658	.	822	O60732	MAGC1_HUMAN	L	822	ENSP00000285879:S822L	ENSP00000285879:S822L	S	+	2	0	MAGEC1	140823321	0.003000	0.15002	0.004000	0.12327	0.104000	0.19210	1.036000	0.30228	0.122000	0.18314	0.279000	0.19357	TCA		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		10	209	0	0	0	0.361761	0	10	209				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			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		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(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>Agt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		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.chr2:209113113G>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.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser					IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	p.R132S			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			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.394C>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	48	1	0	6.32553e-13	0.681144	7.52225e-13	26	48				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	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			6	60	0	0	0	0.217242	0	6	60				
CXorf23	256643	broad.mit.edu	37	X	19983583	19983583	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:19983583G>T	ENST00000379682.4	-	3	886	c.853C>A	c.(853-855)Cgt>Agt	p.R285S	CXorf23_ENST00000356980.3_Missense_Mutation_p.R285S|CXorf23_ENST00000379687.3_Missense_Mutation_p.R285S			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	285						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AGCTTAGGACGTTTGTGACGA	0.458																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(853-855)Cgt>Agt		chromosome X open reading frame 23							91.0	87.0	89.0					X																	19983583		1904	4099	6003	SO:0001583	missense	256643					mitochondrion		g.chrX:19983583G>T	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.853C>A	X.37:g.19983583G>T	ENSP00000369004:p.Arg285Ser					CXorf23_ENST00000356980.3_Missense_Mutation_p.R285S|CXorf23_ENST00000379682.4_Missense_Mutation_p.R285S	p.R285S	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN			3	886	-			285					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.853C>A		.	.	.	.	.	.	.	.	.	.	G	8.076	0.771401	0.16051	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	T;T;T	0.15256	2.44;2.44;2.44	5.48	3.64	0.41730	.	.	.	.	.	T	0.11495	0.0280	N	0.24115	0.695	0.09310	N	0.999998	B;P	0.39157	0.011;0.662	B;B	0.38378	0.024;0.272	T	0.18808	-1.0325	8	.	.	.	.	8.1663	0.31228	0.2664:0.0:0.7336:0.0	.	285;285	A2AJT9-2;A2AJT9	.;CX023_HUMAN	S	285;285;285;173	ENSP00000369009:R285S;ENSP00000369004:R285S;ENSP00000349470:R285S	.	R	-	1	0	CXorf23	19893504	0.962000	0.33011	0.018000	0.16275	0.916000	0.54674	1.753000	0.38359	0.531000	0.28639	0.550000	0.68814	CGT		0.458	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		36	33	1	0	1.47244e-24	0.819951	1.79965e-24	36	33				
DCSTAMP	81501	broad.mit.edu	37	8	105361004	105361004	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:105361004C>G	ENST00000297581.2	+	2	273	c.224C>G	c.(223-225)tCc>tGc	p.S75C	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S75C|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	75					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CTGTGTTGCTCCAAGCATGCA	0.522																																						ENST00000297581.2																			0											c.(223-225)tCc>tGc		dendrocyte expressed seven transmembrane protein							122.0	111.0	114.0					8																	105361004		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361004C>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.224C>G	8.37:g.105361004C>G	ENSP00000297581:p.Ser75Cys					DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.S75C	p.S75C	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	273	+			75					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.224C>G	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954031	0.53293	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.39997	1.05	5.84	4.05	0.47172	.	0.110230	0.64402	D	0.000004	T	0.54806	0.1881	M	0.66939	2.045	0.51012	D	0.999906	D	0.76494	0.999	D	0.63488	0.915	T	0.53027	-0.8496	9	.	.	.	-12.3954	7.2029	0.25891	0.0:0.679:0.1306:0.1904	.	75	Q9H295	TM7S4_HUMAN	C	75	ENSP00000297581:S75C	.	S	+	2	0	TM7SF4	105430180	1.000000	0.71417	0.999000	0.59377	0.529000	0.34654	1.292000	0.33342	0.828000	0.34709	-0.121000	0.15023	TCC		0.522	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		3	73	0	0	0	0.150653	0	3	73				
C1orf174	339448	broad.mit.edu	37	1	3809463	3809463	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:3809463G>A	ENST00000361605.3	-	2	211	c.113C>T	c.(112-114)gCc>gTc	p.A38V	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	38						nucleus (GO:0005634)				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TGCTGTCTTGGCAGACGTGGA	0.542																																						ENST00000361605.3																			0				endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11						c.(112-114)gCc>gTc		chromosome 1 open reading frame 174							73.0	67.0	69.0					1																	3809463		2203	4300	6503	SO:0001583	missense	339448							g.chr1:3809463G>A	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.113C>T	1.37:g.3809463G>A	ENSP00000355306:p.Ala38Val					C1orf174_ENST00000486765.1_5'UTR	p.A38V	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	2	211	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	38					A8K0C8|A8MUG9|Q5SR20|Q6NX36	Missense_Mutation	SNP	ENST00000361605.3	37	c.113C>T	CCDS53.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143915	0.57044	.	.	ENSG00000198912	ENST00000361605	T	0.06608	3.28	4.32	4.32	0.51571	.	0.357213	0.25570	N	0.029771	T	0.09512	0.0234	L	0.53249	1.67	0.24211	N	0.995479	P	0.46784	0.884	P	0.45474	0.482	T	0.12682	-1.0538	10	0.52906	T	0.07	-12.4551	9.564	0.39387	0.0:0.0:0.7905:0.2095	.	38	Q8IYL3	CA174_HUMAN	V	38	ENSP00000355306:A38V	ENSP00000355306:A38V	A	-	2	0	C1orf174	3799323	0.254000	0.23992	0.267000	0.24556	0.761000	0.43186	1.041000	0.30291	2.225000	0.72522	0.462000	0.41574	GCC		0.542	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		3	28	0	0	0	0.115264	0	3	28				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	9	0	0	0	0.115264	0	3	9				
DHDDS	79947	broad.mit.edu	37	1	26772898	26772898	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:26772898G>A	ENST00000236342.7	+	5	508	c.415G>A	c.(415-417)Gta>Ata	p.V139I	DHDDS_ENST00000427245.2_Missense_Mutation_p.V139I|DHDDS_ENST00000374185.3_Missense_Mutation_p.V139I|DHDDS_ENST00000525682.2_Missense_Mutation_p.V139I|DHDDS_ENST00000360009.2_Missense_Mutation_p.V139I|DHDDS_ENST00000526219.1_Intron			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	139					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCACAAGCTGTACAGGCCAC	0.517																																						ENST00000360009.2																			0				breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15						c.(415-417)Gta>Ata		dehydrodolichyl diphosphate synthase							128.0	114.0	119.0					1																	26772898		2203	4300	6503	SO:0001583	missense	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26772898G>A	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.415G>A	1.37:g.26772898G>A	ENSP00000236342:p.Val139Ile					DHDDS_ENST00000374185.3_Missense_Mutation_p.V139I|DHDDS_ENST00000427245.2_Missense_Mutation_p.V139I|DHDDS_ENST00000526219.1_Intron|DHDDS_ENST00000525682.2_Missense_Mutation_p.V139I|DHDDS_ENST00000236342.7_Missense_Mutation_p.V139I	p.V139I	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	5	492	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	139					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	c.415G>A	CCDS282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.772569|2.772569	0.49680|0.49680	.|.	.|.	ENSG00000117682|ENSG00000117682	ENST00000416052|ENST00000374190;ENST00000374187;ENST00000374192;ENST00000427245;ENST00000525682;ENST00000236342;ENST00000374185;ENST00000360009;ENST00000533087;ENST00000436153;ENST00000431933	.|T;T;T;T;T;T;T	.|0.55760	.|0.5;0.5;0.5;0.5;0.5;0.5;0.5	6.04|6.04	4.17|4.17	0.49024|0.49024	.|.	.|0.106948	.|0.64402	.|N	.|0.000006	T|T	0.43831|0.43831	0.1265|0.1265	L|L	0.42529|0.42529	1.33|1.33	0.54753|0.54753	D|D	0.999984|0.999984	.|B;B;B	.|0.15141	.|0.012;0.001;0.001	.|B;B;B	.|0.23574	.|0.047;0.018;0.011	T|T	0.21415|0.21415	-1.0246|-1.0246	5|10	.|0.16420	.|T	.|0.52	-18.1496|-18.1496	12.4673|12.4673	0.55766|0.55766	0.1362:0.0:0.8638:0.0|0.1362:0.0:0.8638:0.0	.|.	.|139;139;139	.|B7Z4B9;Q86SQ9;Q86SQ9-2	.|.;DHDDS_HUMAN;.	Y|I	15|107;46;35;139;139;139;139;139;139;139;44	.|ENSP00000399177:V139I;ENSP00000434984:V139I;ENSP00000236342:V139I;ENSP00000363300:V139I;ENSP00000353104:V139I;ENSP00000436119:V139I;ENSP00000399781:V44I	.|ENSP00000236342:V139I	C|V	+|+	2|1	0|0	DHDDS|DHDDS	26645485|26645485	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.918000|0.918000	0.54935|0.54935	5.477000|5.477000	0.66799|0.66799	0.877000|0.877000	0.35895|0.35895	-0.253000|-0.253000	0.11424|0.11424	TGT|GTA		0.517	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887		41	79	0	0	0	0.864702	0	41	79				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	33	0	0	0	0.115264	0	3	33				
HDAC6	10013	broad.mit.edu	37	X	48682452	48682452	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:48682452A>G	ENST00000334136.5	+	27	3602	c.3424A>G	c.(3424-3426)Aat>Gat	p.N1142D	HDAC6_ENST00000376619.2_Missense_Mutation_p.N1142D|HDAC6_ENST00000444343.2_Missense_Mutation_p.N1156D			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1142					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATCCAAGAGAATTGGGTGTG	0.592																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3424-3426)Aat>Gat		histone deacetylase 6	Vorinostat(DB02546)						89.0	82.0	85.0					X																	48682452		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48682452A>G	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3424A>G	X.37:g.48682452A>G	ENSP00000334061:p.Asn1142Asp					HDAC6_ENST00000376619.2_Missense_Mutation_p.N1142D|HDAC6_ENST00000444343.2_Missense_Mutation_p.N1156D	p.N1142D			Q9UBN7	HDAC6_HUMAN			27	3602	+			1142					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.3424A>G	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	a	24.4	4.524707	0.85600	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.43294	0.95;0.95;0.95	5.18	5.18	0.71444	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.243099	0.38005	N	0.001852	T	0.65112	0.2660	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.70160	-0.4948	10	0.87932	D	0	-23.6249	12.0835	0.53684	1.0:0.0:0.0:0.0	.	1132;505;790;1142	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	D	1156;1142;1142	ENSP00000398566:N1156D;ENSP00000334061:N1142D;ENSP00000365804:N1142D	ENSP00000334061:N1142D	N	+	1	0	HDAC6	48567396	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	8.231000	0.89794	1.827000	0.53221	0.352000	0.21897	AAT		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		5	48	0	0	0	0.184627	0	5	48				
LPAR4	2846	broad.mit.edu	37	X	78010568	78010568	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:78010568A>G	ENST00000435339.3	+	2	588	c.202A>G	c.(202-204)Atg>Gtg	p.M68V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	68					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTTTCCGCATGAAAATGAG	0.358																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(202-204)Atg>Gtg		lysophosphatidic acid receptor 4							280.0	227.0	245.0					X																	78010568		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010568A>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.202A>G	X.37:g.78010568A>G	ENSP00000408205:p.Met68Val					LPAR4_ENST00000373301.2_Missense_Mutation_p.M68V	p.M68V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	607	+			68					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.202A>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274328	0.23307	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.36520	1.25;1.25	4.17	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	L	0.33485	1.01	0.42751	D	0.99377	B	0.17465	0.022	B	0.20384	0.029	T	0.09684	-1.0663	10	0.51188	T	0.08	.	11.3156	0.49390	1.0:0.0:0.0:0.0	.	68	Q99677	LPAR4_HUMAN	V	68	ENSP00000408205:M68V;ENSP00000362398:M68V	ENSP00000362398:M68V	M	+	1	0	LPAR4	77897224	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.803000	0.75180	1.544000	0.49359	0.345000	0.21793	ATG		0.358	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		49	251	0	0	0	0.870114	0	49	251				
SPATA31D5P	347127	broad.mit.edu	37	9	84531597	84531597	+	RNA	SNP	T	T	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:84531597T>C	ENST00000527857.1	+	0	1619					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AACGTGGCCATTCCTCCATGT	0.468																																						ENST00000527857.1																			0																																																			0							g.chr9:84531597T>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531597T>C								NR_026851.1						0	1619	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.468	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		10	26	0	0	0	0.335167	0	10	26				
KCNT1	57582	broad.mit.edu	37	9	138657002	138657002	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:138657002G>T	ENST00000263604.3	+	12	1104	c.1104G>T	c.(1102-1104)atG>atT	p.M368I	KCNT1_ENST00000491806.2_Missense_Mutation_p.M354I|KCNT1_ENST00000487664.1_Missense_Mutation_p.M342I|KCNT1_ENST00000371757.2_Missense_Mutation_p.M387I|KCNT1_ENST00000298480.5_Missense_Mutation_p.M387I|KCNT1_ENST00000486577.2_Missense_Mutation_p.M348I|KCNT1_ENST00000490355.2_Missense_Mutation_p.M368I|KCNT1_ENST00000488444.2_Missense_Mutation_p.M368I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	368					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTTCTCATGGACTTCCTGA	0.642																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1159-1161)atG>atT		potassium channel, subfamily T, member 1							201.0	183.0	189.0					9																	138657002		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657002G>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1104G>T	9.37:g.138657002G>T	ENSP00000263604:p.Met368Ile					KCNT1_ENST00000490355.2_Missense_Mutation_p.M368I|KCNT1_ENST00000263604.3_Missense_Mutation_p.M368I|KCNT1_ENST00000488444.2_Missense_Mutation_p.M368I|KCNT1_ENST00000487664.1_Missense_Mutation_p.M342I|KCNT1_ENST00000486577.2_Missense_Mutation_p.M348I|KCNT1_ENST00000371757.2_Missense_Mutation_p.M387I|KCNT1_ENST00000491806.2_Missense_Mutation_p.M354I	p.M387I			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1235	+		Myeloproliferative disorder(178;0.0821)	387					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1161G>T		.	.	.	.	.	.	.	.	.	.	G	17.38	3.376207	0.61735	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.35	4.35	0.52113	NAD(P)-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.20373	0.0490	L	0.39397	1.21	0.80722	D	1	B;B;B;B	0.25441	0.034;0.077;0.126;0.038	B;B;B;B	0.26517	0.032;0.032;0.07;0.032	T	0.04216	-1.0968	10	0.41790	T	0.15	-18.3393	16.0187	0.80464	0.0:0.0:1.0:0.0	.	354;387;342;368	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	I	342;387;387;348;354;368;368;368	ENSP00000417851:M342I;ENSP00000298480:M387I;ENSP00000360822:M387I;ENSP00000263604:M368I	ENSP00000263604:M368I	M	+	3	0	KCNT1	137796823	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.285000	0.95894	2.241000	0.73720	0.462000	0.41574	ATG		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		11	87	1	0	3.86212e-05	0.361761	4.14471e-05	11	87				
CELSR1	9620	broad.mit.edu	37	22	46929726	46929726	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr22:46929726G>C	ENST00000262738.3	-	1	3341	c.3342C>G	c.(3340-3342)aaC>aaG	p.N1114K	CELSR1_ENST00000395964.1_Missense_Mutation_p.N1114K|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1114	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTTGGACTTGTTGGTGACAT	0.592																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3340-3342)aaC>aaG		cadherin, EGF LAG seven-pass G-type receptor 1							172.0	168.0	169.0					22																	46929726		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46929726G>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3342C>G	22.37:g.46929726G>C	ENSP00000262738:p.Asn1114Lys					CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.N1114K	p.N1114K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3341	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1114			Cadherin 9.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3342C>G	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.953418|2.953418	0.53293|0.53293	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.37752|.	1.18;1.18|.	4.52|4.52	-1.61|-1.61	0.08399|0.08399	Cadherin (1);Cadherin-like (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.58694|0.58694	0.2140|0.2140	M|M	0.65320|0.65320	2|2	0.35389|0.35389	D|D	0.790588|0.790588	D|.	0.67145|.	0.996|.	D|.	0.64506|.	0.926|.	T|T	0.61598|0.61598	-0.7030|-0.7030	10|5	0.46703|.	T|.	0.11|.	.|.	9.2313|9.2313	0.37439|0.37439	0.3822:0.0:0.6178:0.0|0.3822:0.0:0.6178:0.0	.|.	1114|.	Q9NYQ6|.	CELR1_HUMAN|.	K|R	1114|489	ENSP00000262738:N1114K;ENSP00000379293:N1114K|.	ENSP00000262738:N1114K|.	N|T	-|-	3|2	2|0	CELSR1|CELSR1	45308390|45308390	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.599000|0.599000	0.36880|0.36880	1.355000|1.355000	0.34068|0.34068	-0.539000|-0.539000	0.06273|0.06273	-0.391000|-0.391000	0.06502|0.06502	AAC|ACA		0.592	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		78	91	0	0	0	0.870114	0	78	91				
TUBB4B	10383	broad.mit.edu	37	9	140136180	140136180	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:140136180A>G	ENST00000340384.4	+	2	213	c.65A>G	c.(64-66)gAg>gGg	p.E22G		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	22					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	TAGTTTTGGGAGGTGATCAGC	0.711																																						ENST00000340384.4																			0											c.(64-66)gAg>gGg		tubulin, beta 4B class IVb							34.0	35.0	35.0					9																	140136180		2200	4297	6497	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140136180A>G	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.65A>G	9.37:g.140136180A>G	ENSP00000341289:p.Glu22Gly						p.E22G	NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN			2	213	+			22					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.65A>G	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778550	0.49786	.	.	ENSG00000188229	ENST00000340384	T	0.70749	-0.51	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000005	T	0.80813	0.4695	H	0.97440	4.005	0.58432	D	0.999997	B	0.14805	0.011	B	0.16722	0.016	T	0.82226	-0.0562	10	0.87932	D	0	.	12.4367	0.55602	1.0:0.0:0.0:0.0	.	22	P68371	TBB4B_HUMAN	G	22	ENSP00000341289:E22G	ENSP00000341289:E22G	E	+	2	0	TUBB2C	139256001	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.791000	0.62460	1.600000	0.50102	0.445000	0.29226	GAG		0.711	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		8	17	0	0	0	0.278610	0	8	17				
MYH4	4622	broad.mit.edu	37	17	10350460	10350460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:10350460C>T	ENST00000255381.2	-	35	5149	c.5039G>A	c.(5038-5040)cGc>cAc	p.R1680H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1680					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTAGCTCTGCGCTCAACCAT	0.502																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5038-5040)cGc>cAc		myosin, heavy chain 4, skeletal muscle							158.0	126.0	137.0					17																	10350460		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350460C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5039G>A	17.37:g.10350460C>T	ENSP00000255381:p.Arg1680His					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.R1680H	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			35	5149	-			1680						Missense_Mutation	SNP	ENST00000255381.2	37	c.5039G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424328	0.96111	.	.	ENSG00000141048	ENST00000255381	T	0.79554	-1.28	5.29	5.29	0.74685	Myosin tail (1);	0.000000	0.33712	U	0.004633	D	0.92694	0.7678	M	0.93808	3.46	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.94190	0.7440	10	0.87932	D	0	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1680	Q9Y623	MYH4_HUMAN	H	1680	ENSP00000255381:R1680H	ENSP00000255381:R1680H	R	-	2	0	MYH4	10291185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.763000	0.85283	2.646000	0.89796	0.563000	0.77884	CGC		0.502	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	66	0	0	0	0.150653	0	4	66				
GLUD2	2747	broad.mit.edu	37	X	120182836	120182836	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:120182836G>A	ENST00000328078.1	+	1	1375	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	433					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TTGAATGCTGGAGGAGTGACA	0.418																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1297-1299)gGa>gAa		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						173.0	160.0	164.0					X																	120182836		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182836G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1298G>A	X.37:g.120182836G>A	ENSP00000327589:p.Gly433Glu						p.G433E	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1375	+			433					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1298G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874699	0.51695	.	.	ENSG00000182890	ENST00000328078	D	0.99866	-7.3	2.14	1.24	0.21308	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97619	1.0134	10	0.87932	D	0	-6.544	6.5478	0.22416	0.1687:0.0:0.8313:0.0	.	433	P49448	DHE4_HUMAN	E	433	ENSP00000327589:G433E	ENSP00000327589:G433E	G	+	2	0	GLUD2	120010517	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.221000	0.72243	0.183000	0.20059	0.472000	0.43445	GGA		0.418	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		18	191	0	0	0	0.608945	0	18	191				
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:170871070G>A	ENST00000392092.2	+	3	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_ENST00000540980.1_Silent_p.Q62Q|TBP_ENST00000230354.6_Silent_p.Q82Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	82	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(244-246)caG>caA		TATA box binding protein							11.0	17.0	15.0					6																	170871070		1946	3845	5791	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871070G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.246G>A	6.37:g.170871070G>A						TBP_ENST00000540980.1_Silent_p.Q62Q|TBP_ENST00000230354.6_Silent_p.Q82Q	p.Q82Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	525	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	82			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.246G>A	CCDS5315.1																																																																																				0.587	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	18	0	0	0	0.115264	0	3	18				
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	RNA	SNP	C	C	T	rs200047587	byFrequency	TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr3:195701304C>T	ENST00000427841.1	-	0	1520					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGGGCACATGCCTGACCAGAC	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701304C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701304C>T								NR_003264.2						0	1520	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	39	0	0	0	0.248553	0	5	39				
PTCD1	26024	broad.mit.edu	37	7	99026819	99026819	+	Silent	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr7:99026819G>A	ENST00000292478.4	-	5	1072	c.822C>T	c.(820-822)atC>atT	p.I274I	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.I323I|PTCD1_ENST00000555673.1_Silent_p.I323I	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	274					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCTTTGTGGATGATTTCCT	0.557																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(820-822)atC>atT		pentatricopeptide repeat domain 1							169.0	139.0	149.0					7																	99026819		2203	4300	6503	SO:0001819	synonymous_variant	26024							g.chr7:99026819G>A	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.822C>T	7.37:g.99026819G>A						PTCD1_ENST00000555673.1_Silent_p.I323I|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.I323I|PTCD1_ENST00000485746.1_5'UTR	p.I274I	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		5	1072	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	c.822C>T	CCDS34691.1																																																																																				0.557	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		9	89	0	0	0	0.387290	0	9	89				
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	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	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; 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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)	ATCTCGAAGCGCTCACGCCCA	0.522		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)	ENST00000269305.4		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"""		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(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	GRCh37	CM981929	TP53	M		c.(1009-1011)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							56.0	44.0	48.0					17																	7574018		2203	4300	6503	SO:0001583	missense	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.chr17:7574018G>A	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.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	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_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR	p.R337C	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1198	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	8	0	0	0	0.557998	0	17	8				
XPO6	23214	broad.mit.edu	37	16	28137080	28137080	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:28137080G>A	ENST00000304658.5	-	13	2196	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	XPO6_ENST00000565698.1_Missense_Mutation_p.R552C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	566					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCGGCCAGGCGGCCCACGGCC	0.582																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1696-1698)Cgc>Tgc		exportin 6							85.0	89.0	88.0					16																	28137080		2014	4178	6192	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28137080G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1696C>T	16.37:g.28137080G>A	ENSP00000302790:p.Arg566Cys					XPO6_ENST00000565698.1_Missense_Mutation_p.R552C	p.R566C	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			13	2196	-			566					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1696C>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047760	0.93740	.	.	ENSG00000169180	ENST00000304658	T	0.66280	-0.2	5.69	5.69	0.88448	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.77159	-0.2690	10	0.87932	D	0	-14.9122	12.2862	0.54793	0.0:0.0:0.8307:0.1693	.	566;566	B7ZM10;Q96QU8	.;XPO6_HUMAN	C	566	ENSP00000302790:R566C	ENSP00000302790:R566C	R	-	1	0	XPO6	28044581	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	7.635000	0.83286	2.688000	0.91661	0.650000	0.86243	CGC		0.582	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		29	111	0	0	0	0.729181	0	29	111				
TNFAIP3	7128	broad.mit.edu	37	6	138199814	138199814	+	Missense_Mutation	SNP	G	G	A	rs587778713		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:138199814G>A	ENST00000237289.4	+	7	1298	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	411	Interaction with RIPK1.|Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TCAGAGAGGCGGCAAAAGAAT	0.557			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1231-1233)cGg>cAg		tumor necrosis factor, alpha-induced protein 3							64.0	70.0	68.0					6																	138199814		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138199814G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1232G>A	6.37:g.138199814G>A	ENSP00000237289:p.Arg411Gln						p.R411Q	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1298	+	Breast(32;0.135)|Colorectal(23;0.24)		411			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1232G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553380	0.65425	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.24538	1.85	5.53	3.74	0.42951	Zinc finger, A20-type (1);	0.118259	0.56097	D	0.000036	T	0.07234	0.0183	L	0.34521	1.04	0.44843	D	0.997851	P	0.36483	0.555	B	0.26770	0.073	T	0.10660	-1.0620	10	0.52906	T	0.07	-20.5674	8.4949	0.33121	0.2321:0.0:0.7678:0.0	.	411	P21580	TNAP3_HUMAN	Q	411	ENSP00000237289:R411Q	ENSP00000237289:R411Q	R	+	2	0	TNFAIP3	138241507	1.000000	0.71417	0.941000	0.38009	0.989000	0.77384	2.832000	0.48152	1.318000	0.45170	0.655000	0.94253	CGG		0.557	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			6	76	0	0	0	0.248553	0	6	76				
DDX55	57696	broad.mit.edu	37	12	124101060	124101060	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:124101060G>T	ENST00000238146.4	+	10	1009	c.959G>T	c.(958-960)gGg>gTg	p.G320V	DDX55_ENST00000421670.3_5'Flank|DDX55_ENST00000541259.1_3'UTR|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	320	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTCCTAGTGGGATTTTAGTG	0.473																																						ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(958-960)gGg>gTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							210.0	201.0	204.0					12																	124101060		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124101060G>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.959G>T	12.37:g.124101060G>T	ENSP00000238146:p.Gly320Val					DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_3'UTR	p.G320V	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	10	1009	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		320			Helicase C-terminal.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.959G>T	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943332	0.92593	.	.	ENSG00000111364	ENST00000238146;ENST00000538449	T	0.74632	-0.86	5.45	5.45	0.79879	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80974	0.4727	L	0.41824	1.3	0.80722	D	1	P;D	0.61080	0.95;0.989	P;P	0.61722	0.733;0.893	T	0.82633	-0.0361	10	0.87932	D	0	-30.5666	19.3482	0.94373	0.0:0.0:1.0:0.0	.	320;320	B4DVE4;Q8NHQ9	.;DDX55_HUMAN	V	320	ENSP00000238146:G320V	ENSP00000238146:G320V	G	+	2	0	DDX55	122667013	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.379000	0.97198	2.578000	0.87016	0.650000	0.86243	GGG		0.473	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			4	67	1	0	5.9392e-07	0.217242	6.53312e-07	4	67				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369338.1_Splice_Site|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_5'Flank																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	4	57	0	0	0	0.150653	0	4	57				
ESCO2	157570	broad.mit.edu	37	8	27634263	27634266	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:27634263_27634266delTAAG	ENST00000305188.8	+	3	676_679	c.438_441delTAAG	c.(436-441)gctaagfs	p.AK146fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	146					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTTAACTGCTAAGTATCAACCAA	0.353									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(436-441)gcfs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634263_27634266delTAAG	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.438_441delTAAG	8.37:g.27634263_27634266delTAAG	ENSP00000306999:p.Ala146fs					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.AK146fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	676_679	+		Ovarian(32;0.000953)	146					B3KW59|Q49AP4	Frame_Shift_Del	DEL	ENST00000305188.8	37	c.438_441delTAAG	CCDS34872.1																																																																																				0.353	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		23	39						23	39	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			6	7						6	7	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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.?(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						GTCTCAATCAGTTTTTTTGCCT	0.366			"""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"""		1	Unknown(1)	p.?(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.(1072-1077)aatgatfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	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:76939673_76939674insT	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.1075dupA	X.37:g.76939680_76939680dupT	ENSP00000362441:p.Leu359fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.ND320fs	p.ND358fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1288_1289	-			358					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.1074_1075insA	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		52	95						52	95	---	---	---	---
