#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
ZNF609	23060	broad.mit.edu	37	15	64966267	64966267	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:64966267C>G	ENST00000326648.3	+	4	1342	c.1214C>G	c.(1213-1215)gCc>gGc	p.A405G	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	405						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGGCAGGAGCCAATAGCAAA	0.567																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1213-1215)gCc>gGc		zinc finger protein 609							92.0	92.0	92.0					15																	64966267		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966267C>G	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1214C>G	15.37:g.64966267C>G	ENSP00000316527:p.Ala405Gly					ZNF609_ENST00000559364.1_3'UTR	p.A405G	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	1342	+			405					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1214C>G	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240206	0.58995	.	.	ENSG00000180357	ENST00000326648	T	0.50813	0.73	5.55	5.55	0.83447	.	0.247478	0.48767	N	0.000174	T	0.45316	0.1336	L	0.38175	1.15	0.58432	D	0.999992	P	0.35033	0.481	B	0.38500	0.275	T	0.27938	-1.0059	10	0.32370	T	0.25	-1.4922	19.5145	0.95157	0.0:1.0:0.0:0.0	.	405	O15014	ZN609_HUMAN	G	405	ENSP00000316527:A405G	ENSP00000316527:A405G	A	+	2	0	ZNF609	62753320	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.802000	0.62539	2.608000	0.88229	0.650000	0.86243	GCC		0.567	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		67	104	0	0	0	1	0	67	104				
KRTAP20-2	337976	broad.mit.edu	37	21	32007647	32007647	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr21:32007647A>G	ENST00000330798.2	+	1	93	c.65A>G	c.(64-66)tAt>tGt	p.Y22C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	22						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCGGTGGCTATGGCTGTGGC	0.562																																						ENST00000330798.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(64-66)tAt>tGt		keratin associated protein 20-2							203.0	161.0	175.0					21																	32007647		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007647A>G	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.65A>G	21.37:g.32007647A>G	ENSP00000330746:p.Tyr22Cys						p.Y22C	NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN			1	93	+			22						Missense_Mutation	SNP	ENST00000330798.2	37	c.65A>G	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	A	4.235	0.042582	0.08196	.	.	ENSG00000184032	ENST00000330798	T	0.14391	2.51	4.18	-1.16	0.09678	.	.	.	.	.	T	0.09069	0.0224	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.34976	-0.9807	8	0.87932	D	0	.	3.2727	0.06888	0.472:0.0:0.3452:0.1827	.	22	Q3LI61	KR202_HUMAN	C	22	ENSP00000330746:Y22C	ENSP00000330746:Y22C	Y	+	2	0	KRTAP20-2	30929518	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.318000	0.02705	-0.281000	0.09141	-1.426000	0.01102	TAT		0.562	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			62	64	0	0	0	1	0	62	64				
WDR81	124997	broad.mit.edu	37	17	1637326	1637326	+	Silent	SNP	C	C	T	rs143987787		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:1637326C>T	ENST00000409644.1	+	7	4995	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	WDR81_ENST00000446363.1_Silent_p.S304S|WDR81_ENST00000437219.2_Silent_p.S462S|WDR81_ENST00000545662.1_Silent_p.S296S|WDR81_ENST00000309182.5_Silent_p.S614S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.S438S	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1665					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTTCCTGAGCGGCAGCAAGG	0.657																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4993-4995)agC>agT		WD repeat domain 81		C	,,,	0,4404		0,0,2202	62.0	58.0	59.0		1386,4995,1314,1842	-4.2	1.0	17	dbSNP_134	59	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,,	462/739,1665/1942,438/715,614/891	1637326	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	124997							g.chr17:1637326C>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4995C>T	17.37:g.1637326C>T						WDR81_ENST00000545662.1_Silent_p.S296S|WDR81_ENST00000446363.1_Silent_p.S304S|WDR81_ENST00000437219.2_Silent_p.S462S|WDR81_ENST00000419248.1_Silent_p.S438S|WDR81_ENST00000309182.5_Silent_p.S614S|RP11-961A15.1_ENST00000576540.1_RNA	p.S1665S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4995	+			438					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.4995C>T	CCDS54062.1																																																																																				0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		44	67	0	0	0	1	0	44	67				
NOTCH2	4853	broad.mit.edu	37	1	120468319	120468319	+	Missense_Mutation	SNP	A	A	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:120468319A>T	ENST00000256646.2	-	25	4339	c.4120T>A	c.(4120-4122)Tgc>Agc	p.C1374S	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1374	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGACTCGCAGTCCCGGGGA	0.642			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4120-4122)Tgc>Agc		notch 2							25.0	24.0	25.0					1																	120468319		2203	4293	6496	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120468319A>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4120T>A	1.37:g.120468319A>T	ENSP00000256646:p.Cys1374Ser						p.C1374S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4339	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1374			EGF-like 35.		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4120T>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869245	0.32977	.	.	ENSG00000134250	ENST00000256646	D	0.83591	-1.74	5.94	5.94	0.96194	.	0.000000	0.41396	U	0.000894	T	0.71350	0.3329	L	0.54323	1.7	0.80722	D	1	B	0.30824	0.296	B	0.22753	0.041	T	0.74685	-0.3582	10	0.54805	T	0.06	.	15.5759	0.76387	1.0:0.0:0.0:0.0	.	1374	Q04721	NOTC2_HUMAN	S	1374	ENSP00000256646:C1374S	ENSP00000256646:C1374S	C	-	1	0	NOTCH2	120269842	1.000000	0.71417	0.998000	0.56505	0.364000	0.29643	8.919000	0.92770	2.272000	0.75746	0.459000	0.35465	TGC		0.642	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		22	18	0	0	0	1	0	22	18				
EVC2	132884	broad.mit.edu	37	4	5586352	5586352	+	Missense_Mutation	SNP	G	G	A	rs139610006		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:5586352G>A	ENST00000344408.5	-	17	3108	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	EVC2_ENST00000310917.2_Missense_Mutation_p.R939W|EVC2_ENST00000344938.1_Missense_Mutation_p.R1019W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1019					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCACTCACCCGGCTGTGCGAC	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17748	0.0		0.0	False		,,,				2504	0.0					ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(2815-2817)Cgg>Tgg		Ellis van Creveld syndrome 2		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	38.0	40.0	39.0		2815,3055	3.2	1.0	4	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EVC2	NM_001166136.1,NM_147127.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	939/1229,1019/1309	5586352	1,13005	2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5586352G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3055C>T	4.37:g.5586352G>A	ENSP00000342144:p.Arg1019Trp					EVC2_ENST00000344938.1_Missense_Mutation_p.R1019W|EVC2_ENST00000344408.5_Missense_Mutation_p.R1019W	p.R939W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			17	3546	-			1019					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2815C>T	CCDS3382.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.49	2.848538	0.51164	0.0	1.16E-4	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74421	-0.84;-0.83;-0.83	4.98	3.22	0.36961	.	0.326796	0.28700	N	0.014427	T	0.59891	0.2227	N	0.08118	0	0.25523	N	0.987349	D	0.67145	0.996	P	0.49637	0.617	T	0.55592	-0.8117	10	0.66056	D	0.02	-21.2531	9.0374	0.36296	0.1837:0.0:0.8163:0.0	.	1019	Q86UK5	LBN_HUMAN	W	1019;939;1019	ENSP00000339954:R1019W;ENSP00000311683:R939W;ENSP00000342144:R1019W	ENSP00000311683:R939W	R	-	1	2	EVC2	5637253	1.000000	0.71417	0.998000	0.56505	0.256000	0.26092	2.348000	0.44045	1.231000	0.43661	0.543000	0.68304	CGG		0.602	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		11	10	0	0	0	1	0	11	10				
CNTNAP3	79937	broad.mit.edu	37	9	39140572	39140572	+	Missense_Mutation	SNP	A	A	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:39140572A>C	ENST00000297668.6	-	12	1893	c.1820T>G	c.(1819-1821)aTt>aGt	p.I607S	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I514S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I519S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I607S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I607S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	607	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATCTGCATCAATATAGTAAAG	0.453																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1819-1821)aTt>aGt		contactin associated protein-like 3							47.0	53.0	51.0					9																	39140572		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39140572A>C	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1820T>G	9.37:g.39140572A>C	ENSP00000297668:p.Ile607Ser					CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I519S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I607S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I514S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I607S	p.I607S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	12	1893	-			607			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1820T>G	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932219	0.52866	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	2.85	2.85	0.33270	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (5);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.67924	0.2945	H	0.95574	3.69	0.09310	N	1	P;D;D;D;D	0.76494	0.952;0.963;0.999;0.997;0.963	P;P;D;D;P	0.74023	0.521;0.852;0.982;0.91;0.842	T	0.59289	-0.7482	9	0.87932	D	0	.	10.1498	0.42786	1.0:0.0:0.0:0.0	.	514;607;607;607;607	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	S	607;607;519;514;607	ENSP00000297668:I607S;ENSP00000366884:I607S;ENSP00000350863:I519S;ENSP00000320728:I514S;ENSP00000366887:I607S	ENSP00000297668:I607S	I	-	2	0	CNTNAP3	39130572	1.000000	0.71417	0.007000	0.13788	0.729000	0.41735	7.878000	0.87231	1.304000	0.44892	0.361000	0.22055	ATT		0.453	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		38	40	0	0	0	1	0	38	40				
RFX1	5989	broad.mit.edu	37	19	14077272	14077272	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:14077272T>C	ENST00000254325.4	-	14	2156	c.1922A>G	c.(1921-1923)tAc>tGc	p.Y641C		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	641					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCTGAGGTTGTACCTCCAGAA	0.642																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1921-1923)tAc>tGc		regulatory factor X, 1 (influences HLA class II expression)							51.0	45.0	47.0					19																	14077272		2203	4300	6503	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14077272T>C		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1922A>G	19.37:g.14077272T>C	ENSP00000254325:p.Tyr641Cys						p.Y641C	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		14	2156	-			641						Missense_Mutation	SNP	ENST00000254325.4	37	c.1922A>G	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.584495	0.28268	.	.	ENSG00000132005	ENST00000254325	T	0.07800	3.16	4.41	3.36	0.38483	.	0.186824	0.45606	D	0.000360	T	0.04588	0.0125	N	0.14661	0.345	0.31340	N	0.683779	B	0.10296	0.003	B	0.09377	0.004	T	0.13764	-1.0497	10	0.39692	T	0.17	-9.2043	5.7932	0.18371	0.1677:0.0:0.1743:0.658	.	641	P22670	RFX1_HUMAN	C	641	ENSP00000254325:Y641C	ENSP00000254325:Y641C	Y	-	2	0	RFX1	13938272	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	1.870000	0.39529	0.694000	0.31654	0.459000	0.35465	TAC		0.642	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		22	25	0	0	0	1	0	22	25				
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395322C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395322C>T										Q9HBA9	FOH1B_HUMAN			0	720	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	60	0	0	0	1	0	3	60				
PKHD1	5314	broad.mit.edu	37	6	51892645	51892645	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:51892645A>G	ENST00000371117.3	-	31	3885	c.3610T>C	c.(3610-3612)Tgc>Cgc	p.C1204R	PKHD1_ENST00000340994.4_Missense_Mutation_p.C1204R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1204	IPT/TIG 7.		C -> Y. {ECO:0000269|PubMed:12079288}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACCCACAGCAAGGCTCGATG	0.413																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3610-3612)Tgc>Cgc		polycystic kidney and hepatic disease 1 (autosomal recessive)							67.0	67.0	67.0					6																	51892645		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51892645A>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3610T>C	6.37:g.51892645A>G	ENSP00000360158:p.Cys1204Arg					PKHD1_ENST00000340994.4_Missense_Mutation_p.C1204R	p.C1204R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			31	3885	-	Lung NSC(77;0.0605)		1204		C -> Y.	IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3610T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021923	0.54576	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.75589	-0.95;-0.95	5.71	5.71	0.89125	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	L	0.47190	1.495	0.58432	D	0.999999	D;P	0.56521	0.976;0.817	P;P	0.50049	0.629;0.524	T	0.63242	-0.6681	10	0.12430	T	0.62	.	15.1592	0.72767	1.0:0.0:0.0:0.0	.	1204;1204	P08F94-2;P08F94	.;PKHD1_HUMAN	R	1204	ENSP00000360158:C1204R;ENSP00000341097:C1204R	ENSP00000341097:C1204R	C	-	1	0	PKHD1	52000604	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	2.700000	0.47085	2.171000	0.68590	0.533000	0.62120	TGC		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		30	52	0	0	0	1	0	30	52				
PCNXL3	399909	broad.mit.edu	37	11	65403262	65403262	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:65403262G>A	ENST00000355703.3	+	32	5986	c.5447G>A	c.(5446-5448)cGc>cAc	p.R1816H	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1816						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGCTCCTGCGCACCTGGGAG	0.687																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5446-5448)cGc>cAc		pecanex-like 3 (Drosophila)							12.0	14.0	14.0					11																	65403262		2124	4230	6354	SO:0001583	missense	399909					integral to membrane		g.chr11:65403262G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5447G>A	11.37:g.65403262G>A	ENSP00000347931:p.Arg1816His						p.R1816H	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			32	5986	+			1816					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5447G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282991	0.59867	.	.	ENSG00000197136	ENST00000355703	T	0.06933	3.24	4.11	0.408	0.16377	.	0.316581	0.33591	N	0.004756	T	0.05502	0.0145	N	0.08118	0	0.25246	N	0.989717	B;D	0.67145	0.021;0.996	B;P	0.51193	0.02;0.662	T	0.32929	-0.9888	10	0.49607	T	0.09	.	5.0279	0.14395	0.2566:0.1594:0.5839:0.0	.	703;1816	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	H	1816	ENSP00000347931:R1816H	ENSP00000347931:R1816H	R	+	2	0	PCNXL3	65159838	0.526000	0.26298	0.997000	0.53966	0.966000	0.64601	0.468000	0.22051	-0.112000	0.11979	0.462000	0.41574	CGC		0.687	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		7	7	0	0	0	1	0	7	7				
CYP27B1	1594	broad.mit.edu	37	12	58158993	58158993	+	Splice_Site	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:58158993G>T	ENST00000228606.4	-	4	800	c.591C>A	c.(589-591)ggC>ggA	p.G197G	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	197					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G197G(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCGCGGCGATGCCTTGTCGGG	0.687											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000228606.4																			1	Substitution - coding silent(1)	p.G197G(1)	lung(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15						c.e4-1		cytochrome P450, family 27, subfamily B, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						21.0	21.0	21.0					12																	58158993		2199	4296	6495	SO:0001630	splice_region_variant	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158993G>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.590-1C>A	12.37:g.58158993G>T			OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	RP11-571M6.13_ENST00000546609.1_RNA	p.G197_splice	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	800	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		197					B2RC61|Q548T3	Splice_Site	SNP	ENST00000228606.4	37	c.589_splice	CCDS8954.1																																																																																				0.687	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785	Silent	8	59	1	0	0.000274275	1	0.000282982	8	59				
SPATA17	128153	broad.mit.edu	37	1	217915355	217915355	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:217915355A>G	ENST00000366933.4	+	6	489	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	145						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAAGAAAGAGAAGAGAAGAAG	0.403																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(433-435)gAa>gGa		spermatogenesis associated 17							127.0	118.0	121.0					1																	217915355		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217915355A>G	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.434A>G	1.37:g.217915355A>G	ENSP00000355900:p.Glu145Gly						p.E145G	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	6	489	+			145					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.434A>G	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765999	0.90020	.	.	ENSG00000162814	ENST00000366933	T	0.53857	0.6	5.84	5.84	0.93424	.	0.051449	0.85682	D	0.000000	T	0.71409	0.3336	M	0.80847	2.515	0.45899	D	0.998748	D	0.67145	0.996	P	0.60236	0.871	T	0.76033	-0.3107	10	0.72032	D	0.01	-4.5609	15.8903	0.79293	1.0:0.0:0.0:0.0	.	145	Q96L03	SPT17_HUMAN	G	145	ENSP00000355900:E145G	ENSP00000355900:E145G	E	+	2	0	SPATA17	215981978	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.077000	0.64419	2.223000	0.72356	0.533000	0.62120	GAA		0.403	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		32	28	0	0	0	1	0	32	28				
SCN10A	6336	broad.mit.edu	37	3	38768259	38768259	+	Silent	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:38768259T>C	ENST00000449082.2	-	16	2924	c.2925A>G	c.(2923-2925)caA>caG	p.Q975Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	975					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTCTGGGAGCTTGGAGCCCTC	0.577																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(2923-2925)caA>caG		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						63.0	64.0	64.0					3																	38768259		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38768259T>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2925A>G	3.37:g.38768259T>C							p.Q975Q	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	16	2924	-			975					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.2925A>G	CCDS33736.1																																																																																				0.577	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		27	34	0	0	0	1	0	27	34				
RABEP1	9135	broad.mit.edu	37	17	5257698	5257698	+	Silent	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:5257698A>G	ENST00000546142.2	+	8	1195	c.1008A>G	c.(1006-1008)aaA>aaG	p.K336K	RABEP1_ENST00000408982.2_Silent_p.K336K|RABEP1_ENST00000537505.1_Silent_p.K293K|RABEP1_ENST00000262477.6_Silent_p.K336K|RABEP1_ENST00000341923.6_Silent_p.K336K			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	336					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGATCACAAAAAAGCAGATG	0.338																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(1006-1008)aaA>aaG		rabaptin, RAB GTPase binding effector protein 1							133.0	122.0	125.0					17																	5257698		1824	4086	5910	SO:0001819	synonymous_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5257698A>G	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1008A>G	17.37:g.5257698A>G						RABEP1_ENST00000546142.2_Silent_p.K336K|RABEP1_ENST00000537505.1_Silent_p.K293K|RABEP1_ENST00000408982.2_Silent_p.K336K|RABEP1_ENST00000341923.6_Silent_p.K336K	p.K336K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			8	1232	+			336					B2RAG7|O95369|Q8IVX3	Silent	SNP	ENST00000546142.2	37	c.1008A>G	CCDS45592.1																																																																																				0.338	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703		25	24	0	0	0	1	0	25	24				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	123	0	0	0	1	0	5	123				
ABCC12	94160	broad.mit.edu	37	16	48145730	48145730	+	Missense_Mutation	SNP	C	C	T	rs566735897		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:48145730C>T	ENST00000311303.3	-	14	2426	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	ABCC12_ENST00000448542.1_Missense_Mutation_p.R694H|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	694	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTTGCATAGCGCCCTCTCTC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20518	0.0		0.0	False		,,,				2504	0.0					ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2080-2082)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							164.0	154.0	157.0					16																	48145730		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145730C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2081G>A	16.37:g.48145730C>T	ENSP00000311030:p.Arg694His					ABCC12_ENST00000448542.1_Missense_Mutation_p.R694H|ABCC12_ENST00000416054.1_3'UTR	p.R694H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			14	2426	-		all_cancers(37;0.0474)|all_lung(18;0.047)	694			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2081G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	6.204	0.405832	0.11754	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.81330	-1.48;-1.48	5.56	-5.46	0.02608	ABC transporter-like (1);	0.728400	0.14511	N	0.315092	T	0.59770	0.2218	N	0.25426	0.745	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42632	-0.9440	10	0.42905	T	0.14	.	3.7885	0.08710	0.1007:0.3595:0.1001:0.4396	.	694	Q96J65	MRP9_HUMAN	H	694;694;636	ENSP00000311030:R694H;ENSP00000401855:R694H	ENSP00000311030:R694H	R	-	2	0	ABCC12	46703231	0.000000	0.05858	0.003000	0.11579	0.140000	0.21249	-0.288000	0.08377	-0.800000	0.04433	-1.149000	0.01842	CGC		0.463	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		33	65	0	0	0	1	0	33	65				
MICA	100507436	broad.mit.edu	37	6	31379973	31379973	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:31379973G>A	ENST00000449934.2	+	4	917	c.863G>A	c.(862-864)gGg>gAg	p.G288E	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAACACAGCGGGAATCACAGC	0.612																																						ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(862-864)gGg>gAg		MHC class I polypeptide-related sequence A							65.0	54.0	57.0					6																	31379973		692	1591	2283	SO:0001583	missense	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31379973G>A	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.863G>A	6.37:g.31379973G>A	ENSP00000413079:p.Gly288Glu					HCP5_ENST00000414046.2_RNA	p.G288E	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			4	917	+		Ovarian(999;0.0253)	288			Ig-like C1-type.			Missense_Mutation	SNP	ENST00000449934.2	37	c.863G>A	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	g	12.85	2.062605	0.36373	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.15487	2.42;2.42	2.72	2.72	0.32119	.	.	.	.	.	T	0.13798	0.0334	M	0.79475	2.455	0.09310	N	1	P;P	0.41080	0.737;0.645	B;B	0.42555	0.239;0.391	T	0.03597	-1.1021	9	0.87932	D	0	.	11.3132	0.49377	0.0:0.0:1.0:0.0	.	150;288	Q5SS58;Q96QC4	.;.	E	150;288;245;288;179	ENSP00000413079:G288E;ENSP00000402410:G179E	ENSP00000365394:G288E	G	+	2	0	MICA	31487952	0.020000	0.18652	0.035000	0.18076	0.040000	0.13550	2.429000	0.44758	1.572000	0.49736	0.444000	0.29173	GGG		0.612	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		3	46	0	0	0	1	0	3	46				
G6PC	2538	broad.mit.edu	37	17	41059590	41059590	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:41059590G>A	ENST00000253801.2	+	3	470	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	G6PC_ENST00000592383.1_Intron|G6PC_ENST00000585489.1_Missense_Mutation_p.V131I	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	131					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGTGATGGTCACATCTAC	0.517																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(391-393)Gtc>Atc		glucose-6-phosphatase, catalytic subunit							79.0	68.0	72.0					17																	41059590		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41059590G>A	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.391G>A	17.37:g.41059590G>A	ENSP00000253801:p.Val131Ile					G6PC_ENST00000585489.1_Missense_Mutation_p.V131I|G6PC_ENST00000592383.1_Intron	p.V131I	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	470	+		Breast(137;0.000143)	131					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.391G>A	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476402	0.84640	.	.	ENSG00000131482	ENST00000253801	T	0.75050	-0.9	5.05	5.05	0.67936	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	L	0.39898	1.24	0.80722	D	1	D	0.56968	0.978	P	0.57911	0.829	T	0.76471	-0.2947	10	0.34782	T	0.22	.	18.2197	0.89897	0.0:0.0:1.0:0.0	.	131	P35575	G6PC_HUMAN	I	131	ENSP00000253801:V131I	ENSP00000253801:V131I	V	+	1	0	G6PC	38313116	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.186000	0.77722	2.617000	0.88574	0.555000	0.69702	GTC		0.517	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		21	45	0	0	0	1	0	21	45				
HAUS6	54801	broad.mit.edu	37	9	19093264	19093264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093264G>C	ENST00000380502.3	-	4	808	c.341C>G	c.(340-342)tCa>tGa	p.S114*	HAUS6_ENST00000380496.1_5'Flank	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	114					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGAAATAGTGAACCAACAAC	0.313																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(340-342)tCa>tGa		HAUS augmin-like complex, subunit 6							64.0	58.0	60.0					9																	19093264		2203	4298	6501	SO:0001587	stop_gained	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093264G>C	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.341C>G	9.37:g.19093264G>C	ENSP00000369871:p.Ser114*						p.S114*	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			4	808	-			114					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Nonsense_Mutation	SNP	ENST00000380502.3	37	c.341C>G	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	42	9.736719	0.99251	.	.	ENSG00000147874	ENST00000380502	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.3656	15.5084	0.75760	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000369871:S114X	S	-	2	0	HAUS6	19083264	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.625000	0.74248	2.236000	0.73375	0.563000	0.77884	TCA		0.313	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		6	31	0	0	0	1	0	6	31				
COL5A2	1290	broad.mit.edu	37	2	189933563	189933563	+	Silent	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:189933563C>T	ENST00000374866.3	-	19	1480	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	402					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACCTCTCTGCCCCTGAGGAC	0.502																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1204-1206)ggG>ggA		collagen, type V, alpha 2							30.0	36.0	34.0					2																	189933563		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189933563C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1206G>A	2.37:g.189933563C>T							p.G402G	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		19	1480	-			402					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.1206G>A	CCDS33350.1																																																																																				0.502	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		17	26	0	0	0	1	0	17	26				
PLEKHA5	54477	broad.mit.edu	37	12	19475547	19475547	+	Silent	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:19475547T>C	ENST00000299275.6	+	15	2091	c.2085T>C	c.(2083-2085)gaT>gaC	p.D695D	PLEKHA5_ENST00000538714.1_Silent_p.D753D|PLEKHA5_ENST00000424268.1_Silent_p.D626D|PLEKHA5_ENST00000317589.4_Silent_p.D695D|PLEKHA5_ENST00000543806.1_Silent_p.D614D|PLEKHA5_ENST00000539256.1_Silent_p.D453D|PLEKHA5_ENST00000355397.3_Silent_p.D753D|PLEKHA5_ENST00000429027.2_Silent_p.D798D|PLEKHA5_ENST00000359180.3_Silent_p.D695D	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	695					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TACAAAGGGATGATTTACAAA	0.408																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2257-2259)gaT>gaC		pleckstrin homology domain containing, family A member 5							87.0	82.0	84.0					12																	19475547		2203	4300	6503	SO:0001819	synonymous_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19475547T>C	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2085T>C	12.37:g.19475547T>C						PLEKHA5_ENST00000539256.1_Silent_p.D453D|PLEKHA5_ENST00000543806.1_Silent_p.D614D|PLEKHA5_ENST00000317589.4_Silent_p.D695D|PLEKHA5_ENST00000359180.3_Silent_p.D695D|PLEKHA5_ENST00000429027.2_Silent_p.D798D|PLEKHA5_ENST00000355397.3_Silent_p.D753D|PLEKHA5_ENST00000299275.6_Silent_p.D695D|PLEKHA5_ENST00000424268.1_Silent_p.D626D	p.D753D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			17	2263	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		695					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	c.2259T>C	CCDS8682.1																																																																																				0.408	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		56	56	0	0	0	1	0	56	56				
RASIP1	54922	broad.mit.edu	37	19	49227649	49227649	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:49227649C>T	ENST00000222145.4	-	10	2693	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	830	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGAGTTTCCGGAAGAACTC	0.572																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2488-2490)cGg>cAg		Ras interacting protein 1							97.0	88.0	91.0					19																	49227649		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49227649C>T	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2489G>A	19.37:g.49227649C>T	ENSP00000222145:p.Arg830Gln						p.R830Q	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	10	2693	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	830			Dilute.		Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2489G>A	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	c	19.83	3.899765	0.72754	.	.	ENSG00000105538	ENST00000222145	T	0.21031	2.03	5.11	5.11	0.69529	Dilute (1);Dil domain (1);	0.293482	0.28618	N	0.014713	T	0.14141	0.0342	N	0.16743	0.435	0.31952	N	0.609598	P	0.48162	0.906	B	0.40165	0.321	T	0.04664	-1.0935	10	0.24483	T	0.36	-2.2551	16.4672	0.84083	0.0:1.0:0.0:0.0	.	830	Q5U651	RAIN_HUMAN	Q	830	ENSP00000222145:R830Q	ENSP00000222145:R830Q	R	-	2	0	RASIP1	53919461	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.158000	0.50723	2.570000	0.86706	0.550000	0.68814	CGG		0.572	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		53	66	0	0	0	1	0	53	66				
WBSCR17	64409	broad.mit.edu	37	7	71135022	71135022	+	Missense_Mutation	SNP	G	G	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:71135022G>C	ENST00000333538.5	+	8	1966	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	444					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAAAGTGTAAGAATTTCCAGT	0.438																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1330-1332)aaG>aaC		Williams-Beuren syndrome chromosome region 17							154.0	152.0	153.0					7																	71135022		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135022G>C	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1332G>C	7.37:g.71135022G>C	ENSP00000329654:p.Lys444Asn					WBSCR17_ENST00000498380.2_3'UTR	p.K444N	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			8	1966	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	444					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1332G>C	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817200	0.70912	.	.	ENSG00000185274	ENST00000333538	T	0.55930	0.49	4.85	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.90425	3.115	0.80722	D	1	D	0.63046	0.992	P	0.58660	0.843	T	0.77056	-0.2729	10	0.62326	D	0.03	.	11.1396	0.48394	0.1534:0.0:0.8466:0.0	.	444	Q6IS24	GLTL3_HUMAN	N	444	ENSP00000329654:K444N	ENSP00000329654:K444N	K	+	3	2	WBSCR17	70772958	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.219000	0.32479	2.238000	0.73509	0.591000	0.81541	AAG		0.438	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		67	110	0	0	0	1	0	67	110				
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(997-999)Gac>Aac		junctophilin 2							43.0	37.0	39.0					20																	42788430		2203	4299	6502	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788430C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.997G>A	20.37:g.42788430C>T	ENSP00000362071:p.Asp333Asn						p.D333N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1869	-		Myeloproliferative disorder(115;0.0122)	333					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.997G>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.632685	0.87660	.	.	ENSG00000149596	ENST00000372980	T	0.58797	0.31	3.12	2.16	0.27623	.	0.115168	0.56097	N	0.000022	T	0.49440	0.1557	L	0.46614	1.455	0.80722	D	1	D	0.55172	0.97	B	0.44315	0.446	T	0.44651	-0.9314	10	0.42905	T	0.14	.	9.776	0.40618	0.0:0.8956:0.0:0.1044	.	333	Q9BR39	JPH2_HUMAN	N	333	ENSP00000362071:D333N	ENSP00000362071:D333N	D	-	1	0	JPH2	42221844	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.811000	0.47986	0.492000	0.27815	0.306000	0.20318	GAC		0.662	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			37	26	0	0	0	1	0	37	26				
GGA2	23062	broad.mit.edu	37	16	23491094	23491094	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:23491094G>T	ENST00000309859.4	-	11	1203	c.1121C>A	c.(1120-1122)gCa>gAa	p.A374E	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	374	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ACCCAAGGCTGCCAGGTCCTG	0.612																																						ENST00000309859.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(1120-1122)gCa>gAa		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							105.0	74.0	84.0					16																	23491094		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23491094G>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1121C>A	16.37:g.23491094G>T	ENSP00000311962:p.Ala374Glu					GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	p.A374E	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	11	1203	-			374			Unstructured hinge.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.1121C>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774098	0.31411	.	.	ENSG00000103365	ENST00000309859	T	0.14893	2.47	4.56	2.5	0.30297	.	0.603497	0.17831	N	0.160529	T	0.15089	0.0364	L	0.60455	1.87	0.80722	D	1	D	0.54772	0.968	P	0.45310	0.476	T	0.28427	-1.0044	10	0.02654	T	1	-5.2242	7.3814	0.26858	0.0:0.1659:0.4925:0.3416	.	374	Q9UJY4	GGA2_HUMAN	E	374	ENSP00000311962:A374E	ENSP00000311962:A374E	A	-	2	0	GGA2	23398595	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	1.204000	0.32296	0.604000	0.29930	-0.182000	0.12963	GCA		0.612	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			11	73	1	0	0.000566183	1	0.00057503	11	73				
GRPR	2925	broad.mit.edu	37	X	16170454	16170454	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:16170454C>A	ENST00000380289.2	+	3	1239	c.841C>A	c.(841-843)Cat>Aat	p.H281N	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	281					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(841-843)Cat>Aat		gastrin-releasing peptide receptor							153.0	129.0	137.0					X																	16170454		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170454C>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.841C>A	X.37:g.16170454C>A	ENSP00000369643:p.His281Asn						p.H281N	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			3	1239	+	Hepatocellular(33;0.183)		281					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.841C>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195592	0.78902	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.38077	1.16	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54111	-0.8342	10	0.33940	T	0.23	-12.9196	17.2579	0.87062	0.0:1.0:0.0:0.0	.	281	P30550	GRPR_HUMAN	N	281;70	ENSP00000369643:H281N	ENSP00000369643:H281N	H	+	1	0	GRPR	16080375	1.000000	0.71417	0.961000	0.40146	0.718000	0.41266	7.487000	0.81328	2.287000	0.76781	0.600000	0.82982	CAT		0.547	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		149	19	1	0	4.26566e-80	1	4.78048e-80	149	19				
OR9G1	390174	broad.mit.edu	37	11	56468238	56468238	+	Silent	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:56468238C>T	ENST00000312153.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I125I(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACGTGGCCATCTCCAAGCCCC	0.522																																						ENST00000312153.1																			1	Substitution - coding silent(1)	p.I125I(1)	lung(1)	breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(373-375)atC>atT		olfactory receptor, family 9, subfamily G, member 1							156.0	143.0	147.0					11																	56468238		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468238C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.375C>T	11.37:g.56468238C>T							p.I125I	NM_001005213.1	NP_001005213.1					1	375	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.375C>T	CCDS31536.1																																																																																				0.522	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		6	149	0	0	0	1	0	6	149				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			54	52	0	0	0	1	0	54	52				
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:125316257G>T	ENST00000373688.2	+	1	867	c.809G>T	c.(808-810)gGg>gTg	p.G270V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(808-810)gGg>gTg		olfactory receptor, family 1, subfamily N, member 2							227.0	230.0	229.0					9																	125316257		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316257G>T		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.809G>T	9.37:g.125316257G>T	ENSP00000362792:p.Gly270Val						p.G270V	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	867	+			270					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.809G>T	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131315	0.37630	.	.	ENSG00000171501	ENST00000373688	T	0.35605	1.3	4.56	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.138036	0.32819	N	0.005604	T	0.49745	0.1575	M	0.76002	2.32	0.21697	N	0.999586	P	0.39862	0.692	P	0.48921	0.595	T	0.48479	-0.9032	10	0.72032	D	0.01	.	13.188	0.59693	0.0:0.0:0.8393:0.1607	.	270	Q8NGR9	OR1N2_HUMAN	V	270	ENSP00000362792:G270V	ENSP00000362792:G270V	G	+	2	0	OR1N2	124356078	0.000000	0.05858	0.212000	0.23672	0.842000	0.47809	-0.121000	0.10643	1.148000	0.42385	0.644000	0.83932	GGG		0.473	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			49	49	1	0	4.25531e-23	1	4.68806e-23	49	49				
SLC6A2	6530	broad.mit.edu	37	16	55734096	55734096	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:55734096G>A	ENST00000379906.2	+	12	1891	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	SLC6A2_ENST00000567238.1_Missense_Mutation_p.D441N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D546N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D501N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	546					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACTCACCTACGACGACTACAT	0.547																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1636-1638)Gac>Aac		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						129.0	108.0	115.0					16																	55734096		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55734096G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1636G>A	16.37:g.55734096G>A	ENSP00000369237:p.Asp546Asn					SLC6A2_ENST00000561820.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D546N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D441N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D501N	p.D546N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	12	1891	+			546					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1636G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408368	0.42715	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T	0.73575	-0.76;-0.76	5.14	5.14	0.70334	.	0.053759	0.64402	D	0.000001	T	0.46889	0.1416	N	0.03281	-0.365	0.49299	D	0.999772	B;B;B	0.32731	0.147;0.382;0.178	B;B;B	0.21708	0.021;0.036;0.036	T	0.57682	-0.7769	10	0.02654	T	1	.	17.3786	0.87399	0.0:0.0:1.0:0.0	.	260;441;546	F5H0T4;B4DX48;P23975	.;.;SC6A2_HUMAN	N	546;260;546;546	ENSP00000369237:D546N;ENSP00000219833:D546N	ENSP00000219833:D546N	D	+	1	0	SLC6A2	54291597	1.000000	0.71417	0.408000	0.26446	0.674000	0.39518	9.301000	0.96167	2.382000	0.81193	0.655000	0.94253	GAC		0.547	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			5	138	0	0	0	1	0	5	138				
MROH2B	133558	broad.mit.edu	37	5	41070936	41070936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr5:41070936C>A	ENST00000399564.4	-	1	469	c.19G>T	c.(19-21)Gaa>Taa	p.E7*		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	7								p.E7*(1)									CCTATGGATTCCTCTGTACTA	0.423																																						ENST00000399564.4																			1	Substitution - Nonsense(1)	p.E7*(1)	lung(1)								c.(19-21)Gaa>Taa		maestro heat-like repeat family member 2B							95.0	90.0	92.0					5																	41070936		1920	4120	6040	SO:0001587	stop_gained	133558							g.chr5:41070936C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.19G>T	5.37:g.41070936C>A	ENSP00000382476:p.Glu7*						p.E7*	NM_173489.4	NP_775760.3					1	469	-								Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	ENST00000399564.4	37	c.19G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	38	7.200541	0.98132	.	.	ENSG00000171495	ENST00000399564	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.3311	0.66556	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000382476:E7X	E	-	1	0	HEATR7B2	41106693	0.786000	0.28738	0.464000	0.27143	0.019000	0.09904	1.975000	0.40569	2.771000	0.95319	0.591000	0.81541	GAA		0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	9	1	0	0.00307968	1	0.00307968	7	9				
HLA-DOA	3111	broad.mit.edu	37	6	32974943	32974943	+	Silent	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:32974943A>G	ENST00000229829.5	-	4	738	c.663T>C	c.(661-663)tgT>tgC	p.C221C	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	221					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCAGGGCACAGACCAGGG	0.577																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(661-663)tgT>tgC		major histocompatibility complex, class II, DO alpha							71.0	75.0	74.0					6																	32974943		2203	4300	6503	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32974943A>G	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.663T>C	6.37:g.32974943A>G						HLA-DOA_ENST00000450833.2_Intron	p.C221C	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			4	738	-			221					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.663T>C	CCDS4763.1																																																																																				0.577	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		43	71	0	0	0	1	0	43	71				
TRIM58	25893	broad.mit.edu	37	1	248039522	248039522	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248039522C>T	ENST00000366481.3	+	6	1240	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTTGCCTCCCCATCAGTGCC	0.512																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(1192-1194)Cca>Tca		tripartite motif containing 58							140.0	143.0	142.0					1																	248039522		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039522C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1192C>T	1.37:g.248039522C>T	ENSP00000355437:p.Pro398Ser					OR2W3_ENST00000537741.1_Intron	p.P398S	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1240	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	398			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1192C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	3.676	-0.066469	0.07273	.	.	ENSG00000162722	ENST00000366481	T	0.69435	-0.4	4.05	3.13	0.36017	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.225320	0.31809	N	0.007035	T	0.66538	0.2799	L	0.35487	1.065	0.40730	D	0.982732	D	0.56521	0.976	P	0.59357	0.856	T	0.65146	-0.6239	10	0.45353	T	0.12	.	9.2219	0.37382	0.0:0.8111:0.0:0.1889	.	398	Q8NG06	TRI58_HUMAN	S	398	ENSP00000355437:P398S	ENSP00000355437:P398S	P	+	1	0	TRIM58	246106145	0.348000	0.24861	0.035000	0.18076	0.006000	0.05464	2.089000	0.41672	0.688000	0.31529	-0.813000	0.03139	CCA		0.512	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		24	165	0	0	0	1	0	24	165				
CASC3	22794	broad.mit.edu	37	17	38320314	38320314	+	Missense_Mutation	SNP	G	G	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:38320314G>T	ENST00000264645.7	+	7	1592	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	456	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCTCCGGTGGATTCTAGTAC	0.542																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1366-1368)Gat>Tat		cancer susceptibility candidate 3							57.0	54.0	55.0					17																	38320314		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38320314G>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1366G>T	17.37:g.38320314G>T	ENSP00000264645:p.Asp456Tyr						p.D456Y	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1592	+			456			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1366G>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939219	0.18281	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.08	5.08	0.68730	.	0.229868	0.42964	D	0.000621	T	0.57315	0.2045	N	0.14661	0.345	0.58432	D	0.999995	D;D	0.61697	0.99;0.981	P;P	0.56700	0.804;0.687	T	0.64732	-0.6338	9	0.72032	D	0.01	-11.8211	18.2812	0.90098	0.0:0.0:1.0:0.0	.	456;456	B4DKR6;O15234	.;CASC3_HUMAN	Y	456	.	ENSP00000264645:D456Y	D	+	1	0	CASC3	35573840	1.000000	0.71417	0.973000	0.42090	0.267000	0.26476	7.716000	0.84723	2.648000	0.89879	0.563000	0.77884	GAT		0.542	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		29	34	1	0	9.17885e-22	1	9.94375e-22	29	34				
FANCB	2187	broad.mit.edu	37	X	14863149	14863149	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:14863149G>A	ENST00000324138.3	-	7	1909	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	FANCB_ENST00000398334.1_Missense_Mutation_p.P586S	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	586					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GTTAAAAGTGGTGAAAGAGAT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1756-1758)Cca>Tca	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							126.0	114.0	118.0					X																	14863149		2203	4300	6503	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14863149G>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1756C>T	X.37:g.14863149G>A	ENSP00000326819:p.Pro586Ser					FANCB_ENST00000324138.3_Missense_Mutation_p.P586S	p.P586S	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			8	2023	-	Hepatocellular(33;0.183)		586					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.1756C>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972201	0.74246	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.5	5.5	0.81552	.	0.120769	0.56097	D	0.000028	T	0.68201	0.2975	L	0.34521	1.04	0.45541	D	0.998498	D	0.89917	1.0	D	0.97110	1.0	T	0.71794	-0.4485	9	0.87932	D	0	-13.8641	17.256	0.87056	0.0:0.0:1.0:0.0	.	586	Q8NB91	FANCB_HUMAN	S	586	.	ENSP00000326819:P586S	P	-	1	0	FANCB	14773070	1.000000	0.71417	0.765000	0.31456	0.962000	0.63368	4.883000	0.63128	2.286000	0.76751	0.594000	0.82650	CCA		0.388	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		78	13	0	0	0	1	0	78	13				
VWA8	23078	broad.mit.edu	37	13	42293731	42293731	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr13:42293731T>C	ENST00000379310.3	-	26	3180	c.3112A>G	c.(3112-3114)Aag>Gag	p.K1038E	VWA8_ENST00000281496.6_Missense_Mutation_p.K1038E	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1038						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CCTTACTCCTTTGCCAGCTGC	0.373																																						ENST00000379310.3																			0											c.(3112-3114)Aag>Gag		von Willebrand factor A domain containing 8							170.0	145.0	153.0					13																	42293731		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42293731T>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3112A>G	13.37:g.42293731T>C	ENSP00000368612:p.Lys1038Glu					VWA8_ENST00000281496.6_Missense_Mutation_p.K1038E	p.K1038E	NM_015058.1	NP_055873.1					26	3180	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3112A>G	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908447	0.72868	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.15372	2.93;2.43	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	P	0.58013	0.831	T	0.02625	-1.1132	10	0.25106	T	0.35	.	15.9017	0.79384	0.0:0.0:0.0:1.0	.	1038	A3KMH1	K0564_HUMAN	E	942;1038;1038	ENSP00000368612:K1038E;ENSP00000281496:K1038E	ENSP00000251030:K942E	K	-	1	0	KIAA0564	41191731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.940000	0.87693	2.213000	0.71641	0.528000	0.53228	AAG		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		57	60	0	0	0	1	0	57	60				
STPG2	285555	broad.mit.edu	37	4	99030425	99030425	+	Missense_Mutation	SNP	C	C	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:99030425C>A	ENST00000295268.3	-	4	508	c.419G>T	c.(418-420)gGt>gTt	p.G140V		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	140																	AAAATGTATACCTTTGTATTT	0.313																																						ENST00000295268.3																			0											c.(418-420)gGt>gTt		sperm-tail PG-rich repeat containing 2							62.0	62.0	62.0					4																	99030425		2203	4298	6501	SO:0001583	missense	285555							g.chr4:99030425C>A	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.419G>T	4.37:g.99030425C>A	ENSP00000295268:p.Gly140Val						p.G140V	NM_174952.2	NP_777612.1					4	508	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.419G>T	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954259	0.73902	.	.	ENSG00000163116	ENST00000295268	T	0.37411	1.2	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62709	-0.6797	10	0.87932	D	0	-21.364	18.0778	0.89433	0.0:1.0:0.0:0.0	.	140	Q8N412	CD037_HUMAN	V	140	ENSP00000295268:G140V	ENSP00000295268:G140V	G	-	2	0	C4orf37	99249448	0.998000	0.40836	0.991000	0.47740	0.927000	0.56198	5.125000	0.64715	2.619000	0.88677	0.484000	0.47621	GGT		0.313	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		30	42	1	0	6.00712e-18	1	6.40103e-18	30	42				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	4	0	0	0	1	0	23	4				
SFT2D2	375035	broad.mit.edu	37	1	168205989	168205989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:168205989C>T	ENST00000271375.4	+	6	466	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.C104C|SFT2D2_ENST00000367825.3_Silent_p.C104C	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					CTGCATTTTGCAGTCTTTGGC	0.403																																						ENST00000271375.3																			0				lung(3)|skin(1)	4						c.(394-396)Cag>Tag		SFT2 domain containing 2							242.0	235.0	238.0					1																	168205989		2203	4300	6503	SO:0001587	stop_gained	375035				protein transport|vesicle-mediated transport	integral to membrane		g.chr1:168205989C>T	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.394C>T	1.37:g.168205989C>T	ENSP00000271375:p.Gln132*					SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.C104C|SFT2D2_ENST00000367825.3_Silent_p.C104C	p.Q132*	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN			6	466	+	all_hematologic(923;0.215)		132						Nonsense_Mutation	SNP	ENST00000271375.4	37	c.394C>T	CCDS1271.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622529	0.87460	.	.	ENSG00000213064	ENST00000271375	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8493	15.614	0.76750	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000271375:Q132X	Q	+	1	0	SFT2D2	166472613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.141000	0.71744	2.414000	0.81942	0.650000	0.86243	CAG		0.403	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		112	148	0	0	0	1	0	112	148				
IRS1	3667	broad.mit.edu	37	2	227661149	227661149	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:227661149C>T	ENST00000305123.5	-	1	3326	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	769					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTTAAAGGATCTTGGCAATGA	0.627																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2305-2307)aGa>aAa		insulin receptor substrate 1							132.0	151.0	145.0					2																	227661149		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661149C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2306G>A	2.37:g.227661149C>T	ENSP00000304895:p.Arg769Lys						p.R769K	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3326	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	769						Missense_Mutation	SNP	ENST00000305123.5	37	c.2306G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029283	0.54790	.	.	ENSG00000169047	ENST00000305123	D	0.83250	-1.7	4.85	4.85	0.62838	.	0.119094	0.41396	D	0.000888	D	0.86481	0.5943	L	0.55213	1.73	0.33996	D	0.649703	D	0.67145	0.996	P	0.57620	0.824	D	0.87135	0.2199	10	0.23302	T	0.38	-6.8812	18.1615	0.89709	0.0:1.0:0.0:0.0	.	769	P35568	IRS1_HUMAN	K	769	ENSP00000304895:R769K	ENSP00000304895:R769K	R	-	2	0	IRS1	227369393	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.397000	0.59690	2.526000	0.85167	0.561000	0.74099	AGA		0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		142	173	0	0	0	1	0	142	173				
ADAM28	10863	broad.mit.edu	37	8	24151678	24151678	+	Missense_Mutation	SNP	C	C	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr8:24151678C>G	ENST00000265769.4	+	1	126	c.16C>G	c.(16-18)Ctg>Gtg	p.L6V	ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.L6V|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	6					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAAGGTCTCCTGCCAGTCAG	0.498																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(16-18)Ctg>Gtg		ADAM metallopeptidase domain 28							229.0	204.0	212.0					8																	24151678		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24151678C>G	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.16C>G	8.37:g.24151678C>G	ENSP00000265769:p.Leu6Val					ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.L6V|ADAM28_ENST00000397649.3_5'UTR	p.L6V	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	1	126	+		Prostate(55;0.0959)	6					B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.16C>G	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332309	0.41297	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.02032	4.72;4.49	4.62	0.554	0.17241	.	.	.	.	.	T	0.03871	0.0109	M	0.81802	2.56	0.20307	N	0.999917	B;B	0.17038	0.02;0.008	B;B	0.13407	0.007;0.009	T	0.32745	-0.9895	9	0.48119	T	0.1	.	4.9444	0.13982	0.0:0.4738:0.3346:0.1916	.	6;6	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	V	6	ENSP00000265769:L6V;ENSP00000393699:L6V	ENSP00000265769:L6V	L	+	1	2	ADAM28	24207623	0.003000	0.15002	0.005000	0.12908	0.071000	0.16799	0.826000	0.27407	-0.006000	0.14370	0.591000	0.81541	CTG		0.498	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		75	80	0	0	0	1	0	75	80				
SVEP1	79987	broad.mit.edu	37	9	113275228	113275228	+	Silent	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:113275228G>A	ENST00000401783.2	-	5	1617	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_ENST00000374461.1_Silent_p.S404S|SVEP1_ENST00000302728.8_Silent_p.S427S|SVEP1_ENST00000374469.1_Silent_p.S404S|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	427	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCTGAACCGGACCACAAAC	0.443																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1279-1281)tcC>tcT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							102.0	96.0	98.0					9																	113275228		1940	4139	6079	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113275228G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1281C>T	9.37:g.113275228G>A						SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.S404S|SVEP1_ENST00000374461.1_Silent_p.S404S|SVEP1_ENST00000302728.8_Silent_p.S427S	p.S427S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			5	1617	-			427			Sushi 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.1281C>T	CCDS48004.1																																																																																				0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				31	54	0	0	0	1	0	31	54				
OR2L2	26246	broad.mit.edu	37	1	248202456	248202456	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248202456T>C	ENST00000366479.2	+	1	983	c.887T>C	c.(886-888)gTg>gCg	p.V296A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AACAAGGAGGTGATGGGGGCC	0.463																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(886-888)gTg>gCg		olfactory receptor, family 2, subfamily L, member 2							77.0	76.0	76.0					1																	248202456		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202456T>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.887T>C	1.37:g.248202456T>C	ENSP00000355435:p.Val296Ala					OR2L13_ENST00000366478.2_Intron	p.V296A	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	983	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		296					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.887T>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	15.20	2.761779	0.49468	.	.	ENSG00000203663	ENST00000366479	T	0.39592	1.07	1.9	1.9	0.25705	.	.	.	.	.	T	0.59101	0.2169	M	0.71296	2.17	0.30453	N	0.775028	D	0.89917	1.0	D	0.74348	0.983	T	0.57763	-0.7755	9	0.87932	D	0	.	9.0367	0.36291	0.0:0.0:0.0:1.0	.	296	Q8NH16	OR2L2_HUMAN	A	296	ENSP00000355435:V296A	ENSP00000355435:V296A	V	+	2	0	OR2L2	246269079	0.357000	0.24938	0.976000	0.42696	0.587000	0.36485	3.797000	0.55514	0.746000	0.32786	0.163000	0.16589	GTG		0.463	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		60	73	0	0	0	1	0	60	73				
HAUS6	54801	broad.mit.edu	37	9	19093229	19093229	+	Missense_Mutation	SNP	G	G	A	rs151253216		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093229G>A	ENST00000380502.3	-	4	843	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	HAUS6_ENST00000380496.1_5'Flank	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	126					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.H126Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACATCAGATGAATAAACTTA	0.294																																						ENST00000380502.3																			1	Substitution - Missense(1)	p.H126Y(1)	lung(1)	autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(376-378)Cat>Tat		HAUS augmin-like complex, subunit 6		G	TYR/HIS	0,4406		0,0,2203	55.0	51.0	53.0		376	3.9	1.0	9	dbSNP_134	53	2,8594	2.2+/-6.3	0,2,4296	no	missense	HAUS6	NM_017645.3	83	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	126/956	19093229	2,13000	2203	4298	6501	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093229G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.376C>T	9.37:g.19093229G>A	ENSP00000369871:p.His126Tyr						p.H126Y	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			4	843	-			126					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.376C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194335	0.58017	0.0	2.33E-4	ENSG00000147874	ENST00000380502	T	0.24538	1.85	4.87	3.91	0.45181	.	0.268624	0.41097	D	0.000955	T	0.48484	0.1502	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.54669	-0.8259	10	0.72032	D	0.01	-10.9298	14.3044	0.66375	0.0:0.1642:0.8358:0.0	.	126	Q7Z4H7	HAUS6_HUMAN	Y	126	ENSP00000369871:H126Y	ENSP00000369871:H126Y	H	-	1	0	HAUS6	19083229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.473000	0.53122	2.236000	0.73375	0.563000	0.77884	CAT		0.294	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		4	26	0	0	0	1	0	4	26				
AFP	174	broad.mit.edu	37	4	74316388	74316388	+	Missense_Mutation	SNP	C	C	T			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:74316388C>T	ENST00000395792.2	+	11	1446	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	AFP_ENST00000226359.2_Missense_Mutation_p.A449V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	449	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCTGATGGCCATCACCAGA	0.507									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1345-1347)gCc>gTc		alpha-fetoprotein							93.0	84.0	87.0					4																	74316388		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74316388C>T	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1346C>T	4.37:g.74316388C>T	ENSP00000379138:p.Ala449Val					AFP_ENST00000226359.2_Missense_Mutation_p.A449V	p.A449V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1446	+	Breast(15;0.00102)		449			Albumin 3.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1346C>T	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	C	6.957	0.546439	0.13312	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.72942	-0.7;-0.7	4.85	3.05	0.35203	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.859348	0.10384	N	0.681214	T	0.55689	0.1936	L	0.28274	0.84	0.09310	N	1	B;P	0.35793	0.379;0.521	B;B	0.35182	0.197;0.197	T	0.49899	-0.8890	10	0.66056	D	0.02	.	5.6004	0.17351	0.2037:0.6952:0.0:0.1011	.	291;449	B4DMX4;P02771	.;FETA_HUMAN	V	449	ENSP00000379138:A449V;ENSP00000226359:A449V	ENSP00000226359:A449V	A	+	2	0	AFP	74535252	0.000000	0.05858	0.008000	0.14137	0.282000	0.26991	0.386000	0.20702	0.696000	0.31696	0.655000	0.94253	GCC		0.507	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			37	40	0	0	0	1	0	37	40				
TPR	7175	broad.mit.edu	37	1	186292829	186292829	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:186292829G>A	ENST00000367478.4	-	43	6582	c.6286C>T	c.(6286-6288)Cca>Tca	p.P2096S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2096					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAACTGGTGGTCCCAACTCC	0.463			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6286-6288)Cca>Tca		translocated promoter region, nuclear basket protein							121.0	123.0	122.0					1																	186292829		1887	4126	6013	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186292829G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6286C>T	1.37:g.186292829G>A	ENSP00000356448:p.Pro2096Ser						p.P2096S	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	43	6582	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2096					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6286C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313159	0.81358	.	.	ENSG00000047410	ENST00000367478	T	0.36157	1.27	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64567	-0.6377	10	0.87932	D	0	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	2096	P12270	TPR_HUMAN	S	2096	ENSP00000356448:P2096S	ENSP00000356448:P2096S	P	-	1	0	TPR	184559452	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	6.719000	0.74718	2.673000	0.90976	0.650000	0.86243	CCA		0.463	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		80	133	0	0	0	1	0	80	133				
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	C	T	rs368233775	byFrequency	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:38120282C>T	ENST00000406386.3	+	7	1974	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587													-|||	10	0.00199681	0.0061	0.0	5008	,	,		27740	0.001		0.001	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1717-1719)gaC>gaT		TRIO and F-actin binding protein		C		7,3759		0,7,1876	56.0	91.0	80.0		1719	-4.7	0.0	22		80	3,8255		0,3,4126	no	coding-synonymous	TRIOBP	NM_001039141.2		0,10,6002	TT,TC,CC		0.0363,0.1859,0.0832		573/2366	38120282	10,12014	1883	4129	6012	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120282C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1719C>T	22.37:g.38120282C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.D573D	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1974	+	Melanoma(58;0.0574)		573					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1719C>T	CCDS43015.1																																																																																				0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	134	0	0	0	1	0	4	134				
FGFRL1	53834	broad.mit.edu	37	4	1018108	1018108	+	Missense_Mutation	SNP	G	G	A			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:1018108G>A	ENST00000398484.2	+	7	1308	c.728G>A	c.(727-729)cGt>cAt	p.R243H	FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)	p.R213L(2)|p.R243L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711																																						ENST00000398484.2																			4	Substitution - Missense(4)	p.R213L(2)|p.R243L(2)	lung(4)	endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(727-729)cGt>cAt		fibroblast growth factor receptor-like 1							41.0	39.0	40.0					4																	1018108		2199	4279	6478	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018108G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.728G>A	4.37:g.1018108G>A	ENSP00000381498:p.Arg243His					FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243H|FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243H	p.R243H			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1308	+			243					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.728G>A	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.277289	0.80580	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.24	5.24	0.73138	.	0.166361	0.52532	D	0.000071	T	0.70378	0.3217	L	0.39397	1.21	0.52099	D	0.999944	D	0.60575	0.988	P	0.48571	0.582	T	0.74346	-0.3695	10	0.62326	D	0.03	-35.1573	17.8483	0.88737	0.0:0.0:1.0:0.0	.	243	Q8N441	FGRL1_HUMAN	H	243;213;243;243;243	ENSP00000381498:R243H;ENSP00000425025:R243H;ENSP00000423091:R243H;ENSP00000264748:R243H	ENSP00000264748:R243H	R	+	2	0	FGFRL1	1008108	0.991000	0.36638	0.999000	0.59377	0.641000	0.38312	3.172000	0.50832	2.461000	0.83175	0.567000	0.79289	CGT		0.711	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		36	46	0	0	0	1	0	36	46				
ZNF727	442319	broad.mit.edu	37	7	63538609	63538609	+	Silent	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:63538609A>G	ENST00000550760.3	+	4	1361	c.1182A>G	c.(1180-1182)aaA>aaG	p.K394K	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CTGGAGAGAAACCCTACAAAT	0.373																																						ENST00000550760.3																			0				endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						c.(1180-1182)aaA>aaG		zinc finger protein 727							24.0	23.0	23.0					7																	63538609		692	1591	2283	SO:0001819	synonymous_variant	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63538609A>G			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1182A>G	7.37:g.63538609A>G							p.K394K	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN			4	1361	+			394						Silent	SNP	ENST00000550760.3	37	c.1182A>G	CCDS55113.1																																																																																				0.373	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522		4	29	0	0	0	1	0	4	29				
HPSE2	60495	broad.mit.edu	37	10	100401630	100401630	+	Missense_Mutation	SNP	A	A	G			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr10:100401630A>G	ENST00000370552.3	-	7	1131	c.1072T>C	c.(1072-1074)Tct>Cct	p.S358P	HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P|HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	358					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATCTGGTCAGAGAGTGTGTCT	0.413																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1072-1074)Tct>Cct		heparanase 2							199.0	212.0	207.0					10																	100401630		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100401630A>G	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1072T>C	10.37:g.100401630A>G	ENSP00000359583:p.Ser358Pro					HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P|HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P	p.S358P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	7	1131	-			358					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1072T>C	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.194608	0.58017	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.063185	0.64402	D	0.000003	T	0.28863	0.0716	N	0.12182	0.205	0.58432	D	0.999991	P;P;P;P	0.47191	0.879;0.744;0.867;0.891	P;B;B;P	0.51193	0.662;0.341;0.439;0.575	T	0.06789	-1.0807	10	0.30078	T	0.28	-6.6273	16.3979	0.83621	1.0:0.0:0.0:0.0	.	246;358;300;358	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	P	358;300;358;246	ENSP00000359583:S358P;ENSP00000359580:S300P;ENSP00000359577:S358P;ENSP00000384384:S246P	ENSP00000359577:S358P	S	-	1	0	HPSE2	100391620	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.613000	0.46351	2.333000	0.79357	0.533000	0.62120	TCT		0.413	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		6	228	0	0	0	1	0	6	228				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	33	0	0	0	1	0	3	33				
ZNF761	388561	broad.mit.edu	37	19	53958983	53958983	+	RNA	SNP	A	A	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:53958983A>C	ENST00000454407.1	+	0	1675							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TACTGGAGAGAAACCTTACAA	0.368																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							117.0	123.0	121.0					19																	53958983		2203	4298	6501			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958983A>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958983A>C										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1675	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.368	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		4	229	0	0	0	1	0	4	229				
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317	byFrequency	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.S1192S			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0.0	0.0	5008	,	,		21823	0.002		0.0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74.0	68.0	70.0		3576	-9.2	0.0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	128	0	0	0	1	0	6	128				
ZNF721	170960	broad.mit.edu	37	4	436563	436563	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:436563T>C	ENST00000338977.5	-	2	1705	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTCTAAAGGTTTTGCCACAT	0.418																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1657-1659)Acc>Gcc		zinc finger protein 721							104.0	114.0	111.0					4																	436563		2137	4260	6397	SO:0001583	missense	170960							g.chr4:436563T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1657A>G	4.37:g.436563T>C	ENSP00000340524:p.Thr553Ala					ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA	p.T553A							2	1705	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1657A>G		.	.	.	.	.	.	.	.	.	.	T	0.544	-0.852463	0.02630	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.34667	1.35;1.35	1.28	-1.31	0.09230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34483	0.0899	L	0.33245	0.995	0.09310	N	0.999997	D;B;B	0.57257	0.979;0.006;0.005	D;B;B	0.71414	0.973;0.012;0.007	T	0.25882	-1.0119	9	0.02654	T	1	.	4.9128	0.13831	0.0:0.4041:0.0:0.5959	.	553;565;565	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	A	553;565	ENSP00000340524:T553A;ENSP00000428878:T565A	ENSP00000340524:T553A	T	-	1	0	ZNF721	426563	0.000000	0.05858	0.255000	0.24374	0.635000	0.38103	-0.952000	0.03881	-0.293000	0.08986	0.155000	0.16302	ACC		0.418	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		6	143	0	0	0	1	0	6	143				
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs527373580		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1474-1476)cGt>cAt		zinc finger protein 860							85.0	50.0	61.0					3																	32032046		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032046G>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1475G>A	3.37:g.32032046G>A	ENSP00000373274:p.Arg492His						p.R492H	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	2024	+			492					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1475G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253325	0.05829	.	.	ENSG00000197385	ENST00000360311	T	0.18016	2.24	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.46885	1.475	0.09310	N	1	B	0.24576	0.106	B	0.08055	0.003	T	0.33033	-0.9884	8	.	.	.	.	2.1736	0.03856	0.3193:0.3402:0.3405:0.0	.	492	A6NHJ4	ZN860_HUMAN	H	492	ENSP00000373274:R492H	.	R	+	2	0	ZNF860	32007050	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-5.872000	0.00093	-0.556000	0.06134	-0.552000	0.04208	CGT		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			4	126	0	0	0	1	0	4	126				
TUBGCP6	85378	broad.mit.edu	37	22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659166T>C	ENST00000248846.5	-	16	3726	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T1208A			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGGCCGGGTGGGAGCCATG	0.622																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3622-3624)Acc>Gcc		tubulin, gamma complex associated protein 6							68.0	62.0	64.0					22																	50659166		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659166T>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3622A>G	22.37:g.50659166T>C	ENSP00000248846:p.Thr1208Ala					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR	p.T1208A	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4114	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1208			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.3622A>G	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	N	0.262	-0.998869	0.02128	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.11063	3.2;2.81	4.53	-2.94	0.05581	.	3.633440	0.01029	N	0.004116	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.17098	0.001;0.017;0.001	T	0.34054	-0.9844	10	0.23302	T	0.38	.	7.6347	0.28259	0.3123:0.4377:0.0:0.25	.	1200;1208;1208	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	A	1208	ENSP00000248846:T1208A;ENSP00000397387:T1208A	ENSP00000248846:T1208A	T	-	1	0	TUBGCP6	49001293	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-1.348000	0.02629	-0.593000	0.05844	-0.432000	0.05891	ACC		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	119	0	0	0	1	0	4	119				
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		11	89						11	89	---	---	---	---
TWISTNB	221830	broad.mit.edu	37	7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-	rs561305387	byFrequency	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433														10	0.00199681	0.0076	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0					ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(841-846)aaa>aa		TWIST neighbor				24,4238		4,16,2111						-2.7	0.6			252	11,8239		5,1,4119	no	coding	TWISTNB	NM_001002926.1		9,17,6230	A1A1,A1R,RR		0.1333,0.5631,0.2797				35,12477				SO:0001651	inframe_deletion	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738111_19738113delTTC	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.843_845delGAA	7.37:g.19738120_19738122delTTC	ENSP00000222567:p.Lys283del						p.KK281del	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	913_915	-			281			Lys-rich.		A0PJ45|B7Z724	In_Frame_Del	DEL	ENST00000222567.5	37	c.843_845delGAA	CCDS34606.1																																																																																				0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			7	504						7	504	---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46456428	46456429	+	Frame_Shift_Ins	INS	-	-	GGTTATGGGG			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:46456428_46456429insGGTTATGGGG	ENST00000458649.2	-	13	3209_3210	c.2791_2792insCCCCATAACC	c.(2791-2793)ctgfs	p.L931fs	AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.L902fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.L841fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.L812fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.L871fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.L871fs|AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.L902fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	931					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTTCGCCCAGGTTATGGGGG	0.569																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(2791-2793)gggfs		autophagy/beclin-1 regulator 1																																				SO:0001589	frameshift_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46456428_46456429insGGTTATGGGG	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2782_2791dupCCCCATAACC	11.37:g.46456429_46456438dupGGTTATGGGG	ENSP00000415327:p.Leu931fs					AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.G902fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.G812fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.G841fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.G902fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.G871fs|AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.G871fs	p.G931fs			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	13	3209_3210	-			931					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Ins	INS	ENST00000458649.2	37	c.2791_2792insCCCCATAACC																																																																																					0.569	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		8	14						8	14	---	---	---	---
KRT3	3850	broad.mit.edu	37	12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-	rs148531142|rs184322044|rs142692092		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(394-414)ggt>gg		keratin 3				595,3499		80,435,1532						-0.9	0.2			185	257,7693		40,177,3758	no	coding	KRT3	NM_057088.2		120,612,5290	A1A1,A1R,RR		3.2327,14.5335,7.0741				852,11192				SO:0001651	inframe_deletion	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.396_413delAGGGGCTGGTGGCTTTGG	12.37:g.53189414_53189431delCCAAAGCCACCAGCCCCT	ENSP00000413479:p.Gly132_Phe137del					KRT3_ENST00000309505.3_In_Frame_Del_p.GGAGGFG132del	p.GGAGGFG132del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	470_487	-			132			Gly-rich.|Head.		A6NIS2|Q701L8	In_Frame_Del	DEL	ENST00000417996.2	37	c.396_413delAGGGGCTGGTGGCTTTGG	CCDS44895.1																																																																																				0.633	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		4	4						4	4	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			2	4						2	4	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(925-930)cat>ca		meningioma (disrupted in balanced translocation) 1				53,2821		10,33,1394						2.8	0.9			2	95,5897		15,65,2916	no	coding	MN1	NM_002430.2		25,98,4310	A1A1,A1R,RR		1.5854,1.8441,1.6693				148,8718				SO:0001651	inframe_deletion	4330						binding	g.chr22:28195603_28195605delTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.927_929delGCA	22.37:g.28195612_28195614delTGC	ENSP00000304956:p.Gln309del						p.QH309del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1881_1883	-			309					A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.927_929delGCA	CCDS42998.1																																																																																				0.640	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		2	4						2	4	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28195625	28195627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195625_28195627delGCT	ENST00000302326.4	-	1	1859_1861	c.905_907delAGC	c.(904-909)cagccc>ccc	p.Q302del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	302	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						tgctgctggggctgctgctgctg	0.66			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(904-909)ccc>c		meningioma (disrupted in balanced translocation) 1				39,2663		9,21,1321						-0.8	0.0		dbSNP_131	3	111,5619		17,77,2771	no	coding	MN1	NM_002430.2		26,98,4092	A1A1,A1R,RR		1.9372,1.4434,1.7789				150,8282				SO:0001651	inframe_deletion	4330						binding	g.chr22:28195625_28195627delGCT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.905_907delAGC	22.37:g.28195634_28195636delGCT	ENSP00000304956:p.Gln302del						p.QP302del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1859_1861	-			302			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.905_907delAGC	CCDS42998.1																																																																																				0.660	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					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						TATTTTTTTACTTTTCTTTTCTCCA	0.337			"""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.(3133-3138)tfs		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:76937611_76937615delCTTTT	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.3133_3137delAAAAG	X.37:g.76937616_76937620delCTTTT	ENSP00000362441:p.Lys1045fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs|ATRX_ENST00000480283.1_5'UTR	p.KS1045fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3347_3351	-			1045					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3133_3137delAAAAG	CCDS14434.1																																																																																				0.337	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		35	19						35	19	---	---	---	---
