#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
JAKMIP1	152789	broad.mit.edu	37	4	6050593	6050593	+	Silent	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr4:6050593C>A	ENST00000409021.3	-	16	2468	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L	JAKMIP1_ENST00000409371.3_Silent_p.L488L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTCACACAGGGCAAGCA	0.468																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2017-2019)ctG>ctT		janus kinase and microtubule interacting protein 1							97.0	95.0	96.0					4																	6050593		1986	4151	6137	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6050593C>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2019G>T	4.37:g.6050593C>A			Somatic				JAKMIP1_ENST00000409371.3_Silent_p.L488L	p.L673L	NM_001099433.1	NP_001092903.1	WXS	Illumina GAIIx	Phase_I	Q96N16	JKIP1_HUMAN			16	2468	-			444					A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000409021.3	37	c.2019G>T	CCDS47005.1																																																																																				0.468	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		3	41	1	0	0.115264	1	0.128071	3	41				
SALL1	6299	broad.mit.edu	37	16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	rs139646526	byFrequency	TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:51175661T>C	ENST00000251020.4	-	2	505	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S61G|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgctgctgctgctgctg	0.632													t|||	22	0.00439297	0.0113	0.0043	5008	,	,		12583	0.002		0.002	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(181-183)Agc>Ggc		spalt-like transcription factor 1		C	GLY/SER,GLY/SER	15,4347		0,15,2166	22.0	25.0	24.0		472,181	-0.4	0.0	16	dbSNP_134	24	6,8538		0,6,4266	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	0,21,6432	CC,CT,TT		0.0702,0.3439,0.1627	benign,benign	158/1325,61/1228	51175661	21,12885	2181	4272	6453	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175661T>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.472A>G	16.37:g.51175661T>C	ENSP00000251020:p.Ser158Gly		Somatic				SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000541611.1_Intron	p.S61G	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	612	-		all_cancers(37;0.0322)	158					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.181A>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-4.558861	0.00000	0.003439	7.02E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.35;3.34	0.225	-0.451	0.12214	.	0.955374	0.08430	N	0.947112	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.44390	-0.9331	9	0.16896	T	0.51	.	.	.	.	.	158	Q9NSC2	SALL1_HUMAN	G	158;61;122	ENSP00000251020:S158G;ENSP00000407914:S61G	ENSP00000251020:S158G	S	-	1	0	SALL1	49733162	0.610000	0.26983	0.003000	0.11579	0.002000	0.02628	0.506000	0.22658	-2.764000	0.00368	-2.812000	0.00111	AGC		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		3	36	0	0	0	1	0	3	36				
AMER3	205147	broad.mit.edu	37	2	131519652	131519652	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:131519652C>T	ENST00000423981.1	+	2	117	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	AMER3_ENST00000321420.4_Silent_p.L3L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	3					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CAGCATGGAGCTGAAGAGAGG	0.627																																						ENST00000423981.1																			0											c.(7-9)Ctg>Ttg		APC membrane recruitment protein 3							16.0	17.0	17.0					2																	131519652		2191	4271	6462	SO:0001819	synonymous_variant	205147							g.chr2:131519652C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.7C>T	2.37:g.131519652C>T			Somatic				AMER3_ENST00000321420.4_Silent_p.L3L	p.L3L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	WXS	Illumina GAIIx	Phase_I					2	117	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.7C>T	CCDS2164.1																																																																																				0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		3	9	0	0	0	1	0	3	9				
BAP1	8314	broad.mit.edu	37	3	52436620	52436620	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:52436620T>A	ENST00000460680.1	-	16	2525	c.2054A>T	c.(2053-2055)gAa>gTa	p.E685V	BAP1_ENST00000296288.5_Missense_Mutation_p.E667V	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E685V(1)|p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCTCACCTTCCTGAGCCAG	0.552			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		2	Substitution - Missense(1)|Unknown(1)	p.E685V(1)|p.?(1)	pleura(2)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(2053-2055)gAa>gTa		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)							148.0	135.0	140.0					3																	52436620		2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436620T>A	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.2054A>T	3.37:g.52436620T>A	ENSP00000417132:p.Glu685Val		Somatic				BAP1_ENST00000296288.5_Missense_Mutation_p.E667V	p.E685V	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	16	2525	-			685			Interaction with BRCA1.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.2054A>T	CCDS2853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.073625|4.073625	0.76415|0.76415	.|.	.|.	ENSG00000163930|ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368|ENST00000469613	T;T;T|.	0.51325|.	0.71;0.71;0.71|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70928|.	0.3280|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.60789|.	0.879|.	T|.	0.69026|.	-0.5254|.	10|.	0.87932|.	D|.	0|.	.|.	16.183|16.183	0.81925|0.81925	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	685|.	Q92560|.	BAP1_HUMAN|.	V|X	685;667;209|85	ENSP00000417132:E685V;ENSP00000296288:E667V;ENSP00000420647:E209V|.	ENSP00000296288:E667V|.	E|K	-|-	2|1	0|0	BAP1|BAP1	52411660|52411660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	6.280000|6.280000	0.72626|0.72626	2.231000|2.231000	0.72958|0.72958	0.402000|0.402000	0.26972|0.26972	GAA|AAG		0.552	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			38	1	0	0	0	1	0	38	1				
FANCA	2175	broad.mit.edu	37	16	89831391	89831391	+	Silent	SNP	G	G	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:89831391G>C	ENST00000389301.3	-	28	2715	c.2685C>G	c.(2683-2685)ccC>ccG	p.P895P	FANCA_ENST00000568369.1_Silent_p.P895P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	895					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAAGGTGCAAGGGTCTCCAGG	0.527			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(2683-2685)ccC>ccG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							140.0	125.0	130.0					16																	89831391		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89831391G>C	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2685C>G	16.37:g.89831391G>C			Somatic				FANCA_ENST00000568369.1_Silent_p.P895P	p.P895P	NM_000135.2	NP_000126.2	WXS	Illumina GAIIx	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	28	2715	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	895					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.2685C>G	CCDS32515.1																																																																																				0.527	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			5	38	0	0	0	1	0	5	38				
LIPE	3991	broad.mit.edu	37	19	42912150	42912150	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:42912150A>G	ENST00000244289.4	-	4	1910	c.1634T>C	c.(1633-1635)aTc>aCc	p.I545T	LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	545					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CATCTCGGTGATGTTCCAGAA	0.597																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1633-1635)aTc>aCc		lipase, hormone-sensitive							78.0	60.0	66.0					19																	42912150		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912150A>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1634T>C	19.37:g.42912150A>G	ENSP00000244289:p.Ile545Thr		Somatic				LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	p.I545T	NM_005357.2	NP_005348.2	WXS	Illumina GAIIx	Phase_I	Q05469	LIPS_HUMAN			4	1910	-		Prostate(69;0.00682)	545					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1634T>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049033	0.55110	.	.	ENSG00000079435	ENST00000244289	T	0.37058	1.22	4.12	3.07	0.35406	Hormone-sensitive lipase, N-terminal (1);	0.156433	0.39834	N	0.001252	T	0.50514	0.1620	L	0.54323	1.7	0.38897	D	0.957238	D;D	0.76494	0.999;0.997	D;D	0.80764	0.984;0.994	T	0.51228	-0.8732	10	0.66056	D	0.02	-21.1103	9.0444	0.36338	0.8348:0.0:0.0:0.1652	.	545;545	A8K8W7;Q05469	.;LIPS_HUMAN	T	545	ENSP00000244289:I545T	ENSP00000244289:I545T	I	-	2	0	LIPE	47603990	1.000000	0.71417	0.989000	0.46669	0.703000	0.40648	3.784000	0.55416	0.538000	0.28769	0.459000	0.35465	ATC		0.597	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		4	14	0	0	0	1	0	4	14				
PREX2	80243	broad.mit.edu	37	8	69000029	69000029	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:69000029C>T	ENST00000288368.4	+	19	2375	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	700	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCTGTTGTGCATGCTGTAGG	0.453																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2098-2100)Cat>Tat		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							199.0	186.0	190.0					8																	69000029		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69000029C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2098C>T	8.37:g.69000029C>T	ENSP00000288368:p.His700Tyr		Somatic				RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	p.H700Y	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina GAIIx	Phase_I	Q70Z35	PREX2_HUMAN			19	2375	+			700			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2098C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415959	0.42817	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.26957	1.7	5.45	5.45	0.79879	PDZ/DHR/GLGF (4);	0.059839	0.64402	D	0.000002	T	0.23965	0.0580	L	0.31120	0.905	0.80722	D	1	B;B;B	0.27416	0.178;0.117;0.042	B;B;B	0.32928	0.155;0.123;0.051	T	0.04509	-1.0946	10	0.19147	T	0.46	.	19.2862	0.94072	0.0:1.0:0.0:0.0	.	700;700;700	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Y	700	ENSP00000288368:H700Y	ENSP00000288368:H700Y	H	+	1	0	PREX2	69162583	1.000000	0.71417	0.993000	0.49108	0.754000	0.42855	7.411000	0.80078	2.538000	0.85594	0.650000	0.86243	CAT		0.453	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		45	109	0	0	0	1	0	45	109				
KRT40	125115	broad.mit.edu	37	17	39137347	39137347	+	Silent	SNP	A	A	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr17:39137347A>T	ENST00000398486.2	-	6	904	c.744T>A	c.(742-744)acT>acA	p.T248T	KRT40_ENST00000377755.4_Silent_p.T248T	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	248	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGGTGGGGGCAGTGTCCAGCT	0.537																																						ENST00000377755.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(742-744)acT>acA		keratin 40							121.0	131.0	128.0					17																	39137347		2074	4216	6290	SO:0001819	synonymous_variant	125115					intermediate filament	structural molecule activity	g.chr17:39137347A>T	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.744T>A	17.37:g.39137347A>T			Somatic				KRT40_ENST00000398486.2_Silent_p.T248T	p.T248T			WXS	Illumina GAIIx	Phase_I	Q6A162	K1C40_HUMAN			4	778	-		Breast(137;0.00043)	248			Linker 12.|Rod.		Q6IFU5	Silent	SNP	ENST00000398486.2	37	c.744T>A	CCDS42320.1																																																																																				0.537	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497		4	156	0	0	0	1	0	4	156				
NLRP2	55655	broad.mit.edu	37	19	55494140	55494140	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:55494140C>T	ENST00000543010.1	+	6	1217	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000263437.6_Silent_p.G355G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000537859.1_Silent_p.G336G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	358	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTGGAGGGCTTCCTGGAGG	0.622																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1072-1074)ggC>ggT		NLR family, pyrin domain containing 2							34.0	32.0	33.0					19																	55494140		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494140C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1074C>T	19.37:g.55494140C>T			Somatic				NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000263437.6_Silent_p.G355G|NLRP2_ENST00000537859.1_Silent_p.G336G	p.G358G	NM_001174081.1	NP_001167552.1	WXS	Illumina GAIIx	Phase_I	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1217	+			358			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1074C>T	CCDS12913.1																																																																																				0.622	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		7	19	0	0	0	1	0	7	19				
GMEB2	26205	broad.mit.edu	37	20	62236107	62236107	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:62236107T>C	ENST00000266068.1	-	2	696	c.218A>G	c.(217-219)gAa>gGa	p.E73G	GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G|GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	73					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TAACACGGCTTCCTTGAGCTG	0.577																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(217-219)gAa>gGa		glucocorticoid modulatory element binding protein 2							76.0	75.0	75.0					20																	62236107		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62236107T>C	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.218A>G	20.37:g.62236107T>C	ENSP00000266068:p.Glu73Gly		Somatic				GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G|GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G	p.E73G			WXS	Illumina GAIIx	Phase_I	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		2	696	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		73					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.218A>G	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346293	0.61073	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.68025	-0.3;0.3;0.3	4.87	4.87	0.63330	.	0.059134	0.64402	D	0.000004	T	0.47746	0.1462	N	0.08118	0	0.41882	D	0.990329	B	0.31383	0.321	B	0.30943	0.122	T	0.54702	-0.8254	10	0.56958	D	0.05	-3.4365	14.1277	0.65233	0.0:0.0:0.0:1.0	.	73	Q9UKD1	GMEB2_HUMAN	G	22;73;73	ENSP00000359086:E22G;ENSP00000359094:E73G;ENSP00000266068:E73G	ENSP00000266068:E73G	E	-	2	0	GMEB2	61706551	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	4.907000	0.63300	1.822000	0.53115	0.379000	0.24179	GAA		0.577	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		27	50	0	0	0	1	0	27	50				
PARPBP	55010	broad.mit.edu	37	12	102576331	102576331	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:102576331C>G	ENST00000358383.5	+	9	1234	c.1189C>G	c.(1189-1191)Ccc>Gcc	p.P397A	PARPBP_ENST00000541394.1_Missense_Mutation_p.P474A|PARPBP_ENST00000392911.2_Missense_Mutation_p.P316A|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.P316A|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	397					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ACATAGGTCTCCCACACAGGT	0.338																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(946-948)Ccc>Gcc		PARP1 binding protein							42.0	43.0	43.0					12																	102576331		2203	4299	6502	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102576331C>G	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1189C>G	12.37:g.102576331C>G	ENSP00000351153:p.Pro397Ala		Somatic				PARPBP_ENST00000541394.1_Missense_Mutation_p.P474A|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.P397A|PARPBP_ENST00000392911.2_Missense_Mutation_p.P316A	p.P316A	NM_017915.3	NP_060385.3	WXS	Illumina GAIIx	Phase_I	Q9NWS1	PR1BP_HUMAN			10	1409	+			397					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.946C>G	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638060	0.47153	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.11	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.77103	2.36	0.45490	D	0.998458	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.69198	-0.5208	10	0.87932	D	0	-7.5577	14.7262	0.69346	0.0:1.0:0.0:0.0	.	474;276;397	B4DZ31;Q9NWS1-7;Q9NWS1	.;.;PR1BP_HUMAN	A	316;474;397;316;243	ENSP00000332915:P316A;ENSP00000440850:P474A;ENSP00000351153:P397A;ENSP00000376643:P316A;ENSP00000411313:P243A	ENSP00000332915:P316A	P	+	1	0	C12orf48	101100461	1.000000	0.71417	0.998000	0.56505	0.107000	0.19398	3.974000	0.56852	2.613000	0.88420	0.591000	0.81541	CCC		0.338	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		18	25	0	0	0	1	0	18	25				
SNX4	8723	broad.mit.edu	37	3	125223532	125223532	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:125223532T>G	ENST00000251775.4	-	2	222	c.198A>C	c.(196-198)gaA>gaC	p.E66D	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	66	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CAGTTCGTTTTTCTGCTTCTG	0.353																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(196-198)gaA>gaC		sorting nexin 4							191.0	163.0	173.0					3																	125223532		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125223532T>G	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.198A>C	3.37:g.125223532T>G	ENSP00000251775:p.Glu66Asp		Somatic				SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	p.E66D	NM_003794.2	NP_003785.1	WXS	Illumina GAIIx	Phase_I	O95219	SNX4_HUMAN			2	222	-			66			PX.		B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.198A>C	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748976	0.69533	.	.	ENSG00000114520	ENST00000251775	T	0.45276	0.9	4.75	3.6	0.41247	Phox homologous domain (5);	0.098437	0.64402	N	0.000002	T	0.60907	0.2305	M	0.87456	2.885	0.80722	D	1	D	0.63880	0.993	P	0.61940	0.896	T	0.60757	-0.7200	10	0.36615	T	0.2	-13.2006	7.9672	0.30107	0.0:0.2356:0.0:0.7644	.	66	O95219	SNX4_HUMAN	D	66	ENSP00000251775:E66D	ENSP00000251775:E66D	E	-	3	2	SNX4	126706222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.740000	0.26188	0.856000	0.35383	0.533000	0.62120	GAA		0.353	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		22	1	0	0	0	1	0	22	1				
SOGA1	140710	broad.mit.edu	37	20	35443784	35443784	+	Silent	SNP	G	G	A	rs528805804		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:35443784G>A	ENST00000357779.3	-	5	1673	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N	SOGA1_ENST00000456801.2_Silent_p.N290N|SOGA1_ENST00000279034.6_Silent_p.N449N|SOGA1_ENST00000237536.4_Silent_p.N687N			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	449					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGCACACTCGTTGTCCAGAC	0.647																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2059-2061)aaC>aaT		suppressor of glucose, autophagy associated 1							33.0	35.0	34.0					20																	35443784		2203	4299	6502	SO:0001819	synonymous_variant	140710							g.chr20:35443784G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1347C>T	20.37:g.35443784G>A			Somatic				SOGA1_ENST00000456801.2_Silent_p.N290N|SOGA1_ENST00000279034.6_Silent_p.N449N|SOGA1_ENST00000357779.3_Silent_p.N449N	p.N687N	NM_080627.2	NP_542194.2	WXS	Illumina GAIIx	Phase_I	O94964	K0889_HUMAN			5	2402	-			449					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.2061C>T																																																																																					0.647	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		11	12	0	0	0	1	0	11	12				
POU3F3	5455	broad.mit.edu	37	2	105472295	105472295	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472295C>T	ENST00000361360.2	+	1	327	c.327C>T	c.(325-327)gcC>gcT	p.A109A	AC018730.1_ENST00000447876.1_RNA|RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	109	Ala-rich.|Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgccgctgccgccg	0.781																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(325-327)gcC>gcT		POU class 3 homeobox 3							2.0	3.0	3.0					2																	105472295		374	1047	1421	SO:0001819	synonymous_variant	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472295C>T		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.327C>T	2.37:g.105472295C>T			Somatic				RP11-13J10.1_ENST00000598623.1_RNA	p.A109A	NM_006236.1	NP_006227.1	WXS	Illumina GAIIx	Phase_I	P20264	PO3F3_HUMAN			1	327	+			109			Ala-rich.|Gly-rich.		P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.327C>T	CCDS33265.1																																																																																				0.781	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			3	0	0	0	0	1	0	3	0				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		20	41	0	0	0	1	0	20	41				
TBX5	6910	broad.mit.edu	37	12	114823293	114823293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:114823293G>C	ENST00000310346.4	-	7	1409	c.743C>G	c.(742-744)tCa>tGa	p.S248*	TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248*|TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	248					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGCATTCTTGACATTCTGTG	0.478																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(742-744)tCa>tGa		T-box 5							169.0	138.0	148.0					12																	114823293		2203	4300	6503	SO:0001587	stop_gained	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114823293G>C	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.743C>G	12.37:g.114823293G>C	ENSP00000309913:p.Ser248*		Somatic				TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248*	p.S248*	NM_000192.3	NP_000183.2	WXS	Illumina GAIIx	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1409	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		248					A6ND77|O15301|Q96TB0|Q9Y4I2	Nonsense_Mutation	SNP	ENST00000310346.4	37	c.743C>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	43	10.149025	0.99348	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	.	.	.	5.27	5.27	0.74061	.	0.193142	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.8883	0.92388	0.0:0.0:1.0:0.0	.	.	.	.	X	198;248;145;248;248	.	ENSP00000309913:S248X	S	-	2	0	TBX5	113307676	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.363000	0.97131	2.472000	0.83506	0.563000	0.77884	TCA		0.478	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		40	50	0	0	0	1	0	40	50				
F5	2153	broad.mit.edu	37	1	169509628	169509628	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr1:169509628A>G	ENST00000367797.3	-	13	4901	c.4700T>C	c.(4699-4701)aTt>aCt	p.I1567T	F5_ENST00000367796.3_Missense_Mutation_p.I1572T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1567	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCATGCTGCAATGTTGTCAGG	0.393																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4714-4716)aTt>aCt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						117.0	113.0	115.0					1																	169509628		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169509628A>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4700T>C	1.37:g.169509628A>G	ENSP00000356771:p.Ile1567Thr		Somatic				F5_ENST00000367797.3_Missense_Mutation_p.I1567T	p.I1572T			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			13	4916	-	all_hematologic(923;0.208)		1567			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4715T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924707	0.73213	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.56103	0.48;0.48	5.93	5.93	0.95920	.	0.198500	0.45361	D	0.000366	T	0.43787	0.1263	M	0.83312	2.635	0.31018	N	0.718466	P	0.41080	0.737	B	0.42522	0.39	T	0.52653	-0.8547	9	0.22706	T	0.39	-22.3938	10.6744	0.45776	0.929:0.0:0.071:0.0	.	1567	P12259	FA5_HUMAN	T	1567;1572	ENSP00000356771:I1567T;ENSP00000356770:I1572T	ENSP00000356770:I1572T	I	-	2	0	F5	167776252	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.035000	0.70940	2.273000	0.75805	0.482000	0.46254	ATT		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		35	23	0	0	0	1	0	35	23				
TSHZ2	128553	broad.mit.edu	37	20	51873020	51873020	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:51873020C>A	ENST00000371497.5	+	2	3910	c.3023C>A	c.(3022-3024)gCg>gAg	p.A1008E	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(3022-3024)gCg>gAg		teashirt zinc finger homeobox 2							119.0	101.0	107.0					20																	51873020		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873020C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3023C>A	20.37:g.51873020C>A	ENSP00000360552:p.Ala1008Glu		Somatic				TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E	p.A1008E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina GAIIx	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3910	+			1008					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3023C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556662	0.86231	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.28666	1.6;1.6	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59841	-0.7378	10	0.87932	D	0	-14.5615	19.8075	0.96536	0.0:1.0:0.0:0.0	.	1008	Q9NRE2	TSH2_HUMAN	E	1008;1005	ENSP00000360552:A1008E;ENSP00000333114:A1005E	ENSP00000333114:A1005E	A	+	2	0	TSHZ2	51306427	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	7.482000	0.81143	2.681000	0.91329	0.637000	0.83480	GCG		0.468	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		3	52	1	0	0.150653	1	0.155848	3	52				
KIAA0196	9897	broad.mit.edu	37	8	126094695	126094695	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:126094695A>G	ENST00000318410.7	-	4	696	c.347T>C	c.(346-348)cTc>cCc	p.L116P	KIAA0196_ENST00000521109.1_5'UTR|KIAA0196_ENST00000517845.1_5'UTR	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	116					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCCTTCATTGAGATCATCTAG	0.264																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(346-348)cTc>cCc		KIAA0196							60.0	60.0	60.0					8																	126094695		2201	4290	6491	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126094695A>G		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.347T>C	8.37:g.126094695A>G	ENSP00000318016:p.Leu116Pro		Somatic				KIAA0196_ENST00000517845.1_5'UTR|KIAA0196_ENST00000521109.1_5'UTR	p.L116P	NM_014846.3	NP_055661.3	WXS	Illumina GAIIx	Phase_I	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		4	696	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		116					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.347T>C	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284335	0.80803	.	.	ENSG00000164961	ENST00000318410	D	0.88664	-2.41	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	M	0.84948	2.725	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.95600	0.8662	10	0.87932	D	0	-15.0152	15.7537	0.78009	1.0:0.0:0.0:0.0	.	116	Q12768	STRUM_HUMAN	P	116	ENSP00000318016:L116P	ENSP00000318016:L116P	L	-	2	0	KIAA0196	126163877	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.057000	0.93889	2.114000	0.64651	0.460000	0.39030	CTC		0.264	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		64	60	0	0	0	1	0	64	60				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	36	0	0	0	1	0	3	36				
XPC	7508	broad.mit.edu	37	3	14200132	14200132	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:14200132C>T	ENST00000285021.7	-	9	1465	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	XPC_ENST00000449060.2_Silent_p.P380P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	417	Arg/Lys-rich (basic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGGCCATGCGGACGTCGCT	0.607			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1249-1251)ccG>ccA	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							142.0	140.0	140.0					3																	14200132		1568	3582	5150	SO:0001819	synonymous_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14200132C>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1251G>A	3.37:g.14200132C>T			Somatic				XPC_ENST00000449060.2_Silent_p.P380P	p.P417P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	WXS	Illumina GAIIx	Phase_I	Q01831	XPC_HUMAN			9	1465	-			417			Arg/Lys-rich (basic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.1251G>A	CCDS46763.1																																																																																				0.607	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		4	57	0	0	0	1	0	4	57				
FHOD3	80206	broad.mit.edu	37	18	33952644	33952644	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr18:33952644C>T	ENST00000359247.4	+	3	274	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	FHOD3_ENST00000257209.4_Splice_Site_p.R92W|FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000445677.1_Splice_Site_p.R92W	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	92	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCTCGTTAGGCGGGGCAAGAA	0.522																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(274-276)Cgg>Tgg		formin homology 2 domain containing 3																																				SO:0001630	splice_region_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:33952644C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.273-1C>T	18.37:g.33952644C>T			Somatic				FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000445677.1_Splice_Site_p.R92W|FHOD3_ENST00000359247.4_Splice_Site_p.R92W	p.R92W	NM_025135.2	NP_079411.2	WXS	Illumina GAIIx	Phase_I	Q2V2M9	FHOD3_HUMAN			3	396	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	92			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Splice_Site	SNP	ENST00000359247.4	37	c.274C>T		.	.	.	.	.	.	.	.	.	.	C	17.77	3.471204	0.63625	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.20200	2.09;2.09;2.09	5.07	1.99	0.26369	GTPase-binding/formin homology 3 (1);	0.059478	0.64402	D	0.000009	T	0.33760	0.0874	L	0.40543	1.245	0.29114	N	0.880696	D;D;P	0.89917	1.0;1.0;0.85	D;D;B	0.83275	0.967;0.996;0.06	T	0.13388	-1.0511	10	0.87932	D	0	.	10.8051	0.46514	0.6476:0.3524:0.0:0.0	.	92;92;92	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	W	92	ENSP00000257209:R92W;ENSP00000352186:R92W;ENSP00000411430:R92W	ENSP00000257209:R92W	R	+	1	2	FHOD3	32206642	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.465000	0.35299	0.240000	0.21263	0.650000	0.86243	CGG		0.522	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	Missense_Mutation	13	11	0	0	0	1	0	13	11				
KCTD19	146212	broad.mit.edu	37	16	67327540	67327540	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:67327540C>T	ENST00000304372.5	-	12	2180	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	709					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCCCCTTGTCTTTCGCTCCA	0.597																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2125-2127)Gac>Aac		potassium channel tetramerization domain containing 19							91.0	97.0	95.0					16																	67327540		2013	4180	6193	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327540C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2125G>A	16.37:g.67327540C>T	ENSP00000305702:p.Asp709Asn		Somatic					p.D709N	NM_001100915.1	NP_001094385.1	WXS	Illumina GAIIx	Phase_I	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2180	-		Ovarian(137;0.192)	709					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2125G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404509	0.42613	.	.	ENSG00000168676	ENST00000304372	T	0.59772	0.24	5.86	5.86	0.93980	.	0.426896	0.22428	N	0.060193	T	0.39489	0.1080	N	0.19112	0.55	0.35187	D	0.773001	P	0.38922	0.651	B	0.24541	0.054	T	0.57516	-0.7798	10	0.59425	D	0.04	-16.2777	15.6912	0.77453	0.0:1.0:0.0:0.0	.	709	Q17RG1	KCD19_HUMAN	N	709	ENSP00000305702:D709N	ENSP00000305702:D709N	D	-	1	0	KCTD19	65885041	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	3.895000	0.56258	2.779000	0.95612	0.563000	0.77884	GAC		0.597	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		27	65	0	0	0	1	0	27	65				
POU3F3	5455	broad.mit.edu	37	2	105472298	105472298	+	Silent	SNP	T	T	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472298T>C	ENST00000361360.2	+	1	330	c.330T>C	c.(328-330)gcT>gcC	p.A110A	AC018730.1_ENST00000447876.1_RNA|RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	110	Ala-rich.|Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgctgccgccgccg	0.791																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(328-330)gcT>gcC		POU class 3 homeobox 3							2.0	3.0	3.0					2																	105472298		326	964	1290	SO:0001819	synonymous_variant	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472298T>C		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.330T>C	2.37:g.105472298T>C			Somatic				RP11-13J10.1_ENST00000598623.1_RNA	p.A110A	NM_006236.1	NP_006227.1	WXS	Illumina GAIIx	Phase_I	P20264	PO3F3_HUMAN			1	330	+			110			Ala-rich.|Gly-rich.		P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.330T>C	CCDS33265.1																																																																																				0.791	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			3	0	0	0	0	1	0	3	0				
