#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ASTN1	460	broad.mit.edu	37	1	176993813	176993813	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:176993813G>A	ENST00000367654.3	-	6	1387	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.T392T|ASTN1_ENST00000361833.2_Silent_p.T392T|ASTN1_ENST00000367657.3_Silent_p.T392T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	392					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCACACAGCTGGTGATGCTGA	0.517																																						uc001glc.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1174-1176)acC>acT		Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.							165.0	130.0	142.0					1																	176993813		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993813G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1176C>T	1.37:g.176993813G>A			Somatic				ASTN1_uc001glb.1_Silent_p.T392T|ASTN1_uc001gld.1_Silent_p.T392T|ASTN1_uc009wwx.1_Silent_p.T392T|ASTN1_uc001gle.4_Non-coding_Transcript	p.T392T	NM_004319	NP_004310	WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			5	1388	-			392					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1176C>T																																																																																					0.517	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	59	0	0	0	1	0	3	59				
NHSL2	340527	broad.mit.edu	37	X	71360504	71360504	+	Missense_Mutation	SNP	A	A	C			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:71360504A>C	ENST00000373677.1	+	2	3270	c.2008A>C	c.(2008-2010)Atc>Ctc	p.I670L	NHSL2_ENST00000535692.1_Missense_Mutation_p.I670L|NHSL2_ENST00000540800.1_Missense_Mutation_p.I1036L|NHSL2_ENST00000510661.1_Missense_Mutation_p.I805L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	670								p.I667V(1)|p.I1036V(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCTCAGCCCCATCATCACCCT	0.557																																						uc011mqa.2																			2	Substitution - Missense(2)	p.I667V(1)|p.I1036V(1)	kidney(2)	NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(3106-3108)Atc>Ctc		Homo sapiens NHS-like 2 (NHSL2), mRNA.							54.0	53.0	53.0					X																	71360504		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360504A>C			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2008A>C	X.37:g.71360504A>C	ENSP00000362781:p.Ile670Leu		Somatic				NHSL2_uc004eak.1_Missense_Mutation_p.I670L|NHSL2_uc010nli.2_Missense_Mutation_p.I805L	p.I1036L	NM_001013627	NP_001013649	WXS	Illumina GAIIx	Phase_I	F5H593	F5H593_HUMAN			5	3106	+	Renal(35;0.156)		1036					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.3106A>C		.	.	.	.	.	.	.	.	.	.	A	17.84	3.487173	0.63962	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.55413	1.37;0.58;0.52;0.58	6.08	6.08	0.98989	.	0.065234	0.64402	D	0.000016	T	0.67571	0.2907	L	0.54323	1.7	0.36385	D	0.862173	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.75722	-0.3218	10	0.72032	D	0.01	-14.7661	13.2767	0.60191	1.0:0.0:0.0:0.0	.	1036;805;670	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	L	1036;670;805;670	ENSP00000444617:I1036L;ENSP00000362781:I670L;ENSP00000424079:I805L;ENSP00000444914:I670L	ENSP00000362781:I670L	I	+	1	0	NHSL2	71277229	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.629000	0.46485	2.044000	0.60594	0.486000	0.48141	ATC		0.557	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		8	75	0	0	0	1	0	8	75				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile		Somatic					p.T909I	NM_001102653	NP_001096123	WXS	Illumina GAIIx	Phase_I	Q01804	OTUD4_HUMAN			20	2864	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		5	199	0	0	0	1	0	5	199				
BCORL1	63035	broad.mit.edu	37	X	129148839	129148839	+	Silent	SNP	G	G	A	rs199575306		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:129148839G>A	ENST00000218147.7	+	4	2288	c.2091G>A	c.(2089-2091)ggG>ggA	p.G697G	BCORL1_ENST00000359304.2_Silent_p.G697G|BCORL1_ENST00000303743.5_Silent_p.G697G|BCORL1_ENST00000540052.1_Silent_p.G697G			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	697					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGAGGAATGGGGACCCGAGCA	0.607																																						uc022cdu.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2089-2091)ggG>ggA		Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.							81.0	65.0	70.0					X																	129148839		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148839G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2091G>A	X.37:g.129148839G>A			Somatic				BCORL1_uc010nrd.1_Silent_p.G599G	p.G697G	NM_021946	NP_068765	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			2	2135	+			697					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2091G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	0.979	-0.697720	0.03279	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.28	-3.08	0.05347	.	0.000000	0.37012	N	0.002288	T	0.43875	0.1267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27434	-1.0074	6	0.42905	T	0.14	-15.216	2.5454	0.04736	0.4216:0.1838:0.2965:0.0981	.	.	.	.	R	133	.	ENSP00000416520:G133R	G	+	1	0	BCORL1	128976520	0.993000	0.37304	0.752000	0.31206	0.538000	0.34931	0.175000	0.16762	-0.869000	0.04052	0.436000	0.28706	GGA		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		3	121	0	0	0	1	0	3	121				
CFAP45	25790	broad.mit.edu	37	1	159863058	159863058	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:159863058G>A	ENST00000368099.4	-	2	105	c.41C>T	c.(40-42)gCc>gTc	p.A14V	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTTGGAAGCGGCAGAAGAGGA	0.532																																						uc001fui.3																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(40-42)gCc>gTc		Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.							143.0	141.0	142.0					1																	159863058		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159863058G>A																												ENST00000368099.4:c.41C>T	1.37:g.159863058G>A	ENSP00000357079:p.Ala14Val		Somatic				CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.A14V	p.A14V	NM_012337	NP_036469	WXS	Illumina GAIIx	Phase_I	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		1	59	-	all_hematologic(112;0.0597)		14						Missense_Mutation	SNP	ENST00000368099.4	37	c.41C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759857	0.15846	.	.	ENSG00000213085	ENST00000368099	T	0.44083	0.93	5.94	3.98	0.46160	.	0.939887	0.08969	N	0.867444	T	0.06917	0.0176	N	0.03608	-0.345	0.20074	N	0.999934	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.35301	-0.9794	9	.	.	.	-7.9734	7.5713	0.27909	0.0:0.2147:0.6104:0.1749	.	14;14	A8K884;Q9UL16	.;CCD19_HUMAN	V	14	ENSP00000357079:A14V	.	A	-	2	0	CCDC19	158129682	0.001000	0.12720	0.003000	0.11579	0.029000	0.11900	0.584000	0.23864	1.448000	0.47680	0.563000	0.77884	GCC		0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			4	163	0	0	0	1	0	4	163				
USP2	9099	broad.mit.edu	37	11	119244101	119244101	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:119244101G>A	ENST00000260187.2	-	2	384	c.90C>T	c.(88-90)taC>taT	p.Y30Y	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	30	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGGACGGGGTGTAGGCACCAT	0.602																																						uc001pwm.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(88-90)taC>taT		Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.							55.0	45.0	48.0					11																	119244101		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119244101G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.90C>T	11.37:g.119244101G>A			Somatic				USP2_uc001pwn.4_Intron	p.Y30Y	NM_004205	NP_004196	WXS	Illumina GAIIx	Phase_I	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	1	385	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	30			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.90C>T	CCDS8422.1																																																																																				0.602	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		4	63	0	0	0	1	0	4	63				
DNTTIP1	116092	broad.mit.edu	37	20	44420653	44420653	+	Missense_Mutation	SNP	A	A	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr20:44420653A>T	ENST00000372622.3	+	1	78	c.10A>T	c.(10-12)Act>Tct	p.T4S	WFDC3_ENST00000243938.4_5'Flank|WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000372632.2_5'Flank|WFDC3_ENST00000372630.2_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	4						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CATGGGAGCCACTGGCGACGC	0.741																																						uc002xpk.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(10-12)Act>Tct		Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.							3.0	4.0	4.0					20																	44420653		1479	3316	4795	SO:0001583	missense	116092					nucleus		g.chr20:44420653A>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.10A>T	20.37:g.44420653A>T	ENSP00000361705:p.Thr4Ser		Somatic				WFDC3_uc002xpf.1_5'Flank|WFDC3_uc002xpj.1_5'Flank|WFDC3_uc002xph.1_5'Flank|WFDC3_uc010ghh.1_5'Flank	p.T4S	NM_052951	NP_443183	WXS	Illumina GAIIx	Phase_I	Q9H147	TDIF1_HUMAN			0	78	+		Myeloproliferative disorder(115;0.0122)	4					B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	37	c.10A>T	CCDS13369.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470129	0.84533	.	.	ENSG00000101457	ENST00000372622	T	0.46063	0.88	5.22	4.05	0.47172	.	0.462189	0.24165	N	0.040949	T	0.26666	0.0652	N	0.08118	0	0.26151	N	0.980135	D	0.56287	0.975	P	0.49953	0.627	T	0.06463	-1.0825	10	0.15952	T	0.53	-14.7002	8.6983	0.34310	0.8078:0.1922:0.0:0.0	.	4	Q9H147	TDIF1_HUMAN	S	4	ENSP00000361705:T4S	ENSP00000361705:T4S	T	+	1	0	DNTTIP1	43854060	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.582000	0.36568	2.082000	0.62665	0.455000	0.32223	ACT		0.741	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		5	3	0	0	0	1	0	5	3				
TACC2	10579	broad.mit.edu	37	10	123846133	123846133	+	Missense_Mutation	SNP	G	G	A	rs149524584		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:123846133G>A	ENST00000369005.1	+	4	4458	c.4118G>A	c.(4117-4119)aGc>aAc	p.S1373N	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.S1373N|TACC2_ENST00000515273.1_Missense_Mutation_p.S1373N|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1373N|TACC2_ENST00000515603.1_Missense_Mutation_p.S1373N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1373					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAGAGGGCAGCATGGAGAGG	0.607																																						uc001lfv.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(4117-4119)aGc>aAc		Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.							116.0	82.0	94.0					10																	123846133		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846133G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4118G>A	10.37:g.123846133G>A	ENSP00000358001:p.Ser1373Asn		Somatic				TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.S1373N|TACC2_uc010qtv.2_Missense_Mutation_p.S1373N	p.S1373N	NM_206862	NP_996744	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			3	4478	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1373					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.4118G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536486	0.45176	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.08984	3.11;3.22;3.03;3.11;3.22	4.82	2.92	0.33932	.	0.875097	0.09511	N	0.792268	T	0.04770	0.0129	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32203	0.36;0.36;0.116	B;B;B	0.27796	0.083;0.083;0.083	T	0.45175	-0.9279	10	0.18710	T	0.47	-0.4866	4.8363	0.13466	0.1858:0.0:0.646:0.1683	.	1373;1373;1373	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	N	1373;1373;1373;1373;1373;1363	ENSP00000358001:S1373N;ENSP00000424467:S1373N;ENSP00000427618:S1373N;ENSP00000334280:S1373N;ENSP00000395048:S1373N	ENSP00000334280:S1373N	S	+	2	0	TACC2	123836123	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	-0.413000	0.07123	0.418000	0.25898	0.448000	0.29417	AGC		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			3	78	0	0	0	1	0	3	78				
PCDHA4	56144	broad.mit.edu	37	5	140188524	140188524	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr5:140188524G>A	ENST00000530339.1	+	1	1752	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHA4_ENST00000356878.4_Silent_p.S584S|PCDHA4_ENST00000512229.2_Silent_p.S584S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	584					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCATGGTCGGTGGGTGTGG	0.672																																						uc003lhi.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1750-1752)tcG>tcA		Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.							107.0	99.0	102.0					5																	140188524		2203	4299	6502	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188524G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1752G>A	5.37:g.140188524G>A			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.S584S|PCDHAC2_uc011daa.2_Silent_p.S584S	p.S584S	NM_018907	NP_061730	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1853	+			597					O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1752G>A	CCDS54916.1																																																																																				0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	156	0	0	0	1	0	4	156				
TNS1	7145	broad.mit.edu	37	2	218683463	218683463	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:218683463G>A	ENST00000171887.4	-	24	3732	c.3280C>T	c.(3280-3282)Ccg>Tcg	p.P1094S	TNS1_ENST00000430930.1_Missense_Mutation_p.P1073S|TNS1_ENST00000419504.1_Missense_Mutation_p.P1081S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1094	Ser-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTCCCGACGGGAAACTCCCC	0.622																																						uc002vgt.2																			0		p.F1093L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3280-3282)Ccg>Tcg		Homo sapiens tensin 1 (TNS1), mRNA.							25.0	28.0	27.0					2																	218683463		2202	4293	6495	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683463G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3280C>T	2.37:g.218683463G>A	ENSP00000171887:p.Pro1094Ser		Somatic				TNS1_uc002vgr.2_Missense_Mutation_p.P1081S|TNS1_uc002vgs.2_Missense_Mutation_p.P1073S|TNS1_uc010zjv.1_Missense_Mutation_p.P1073S	p.P1094S	NM_022648	NP_072174	WXS	Illumina GAIIx	Phase_I	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	23	3678	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1094			Ser-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3280C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330448	0.41297	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91521	-2.85;2.15;-2.85;-2.86	5.27	5.27	0.74061	.	0.312563	0.30620	N	0.009221	D	0.90913	0.7144	N	0.14661	0.345	0.80722	D	1	D;D;B	0.89917	0.991;1.0;0.342	P;D;B	0.85130	0.825;0.997;0.132	D	0.90293	0.4324	10	0.29301	T	0.29	.	18.8929	0.92412	0.0:0.0:1.0:0.0	.	1094;1073;1081	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	S	1094;232;1081;1073	ENSP00000171887:P1094S;ENSP00000394171:P232S;ENSP00000408724:P1081S;ENSP00000406016:P1073S	ENSP00000171887:P1094S	P	-	1	0	TNS1	218391708	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	6.900000	0.75687	2.472000	0.83506	0.655000	0.94253	CCG		0.622	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	59	0	0	0	1	0	3	59				
COL5A1	1289	broad.mit.edu	37	9	137716627	137716627	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:137716627G>A	ENST00000371817.3	+	62	5294	c.4880G>A	c.(4879-4881)cGg>cAg	p.R1627Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1627	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGATGAAACGGCCCCTGGGC	0.637																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4879-4881)cGg>cAg		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							61.0	55.0	57.0					9																	137716627		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137716627G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4880G>A	9.37:g.137716627G>A	ENSP00000360882:p.Arg1627Gln		Somatic				BC058547_uc004cff.3_Intron	p.R1627Q	NM_000093	NP_000084	WXS	Illumina GAIIx	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	61	5262	+		Myeloproliferative disorder(178;0.0341)	1627			Fibrillar collagen NC1.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4880G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214105	0.58452	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.72942	-0.7	4.16	2.95	0.34219	Fibrillar collagen, C-terminal (3);	0.080378	0.49916	U	0.000140	T	0.57475	0.2056	L	0.49126	1.545	0.28781	N	0.899816	B	0.24920	0.114	B	0.27796	0.083	T	0.44421	-0.9329	10	0.29301	T	0.29	.	3.2628	0.06854	0.448:0.0:0.552:0.0	.	1627	P20908	CO5A1_HUMAN	Q	1627;164	ENSP00000360882:R1627Q	ENSP00000347458:R164Q	R	+	2	0	COL5A1	136856448	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.171000	0.71926	2.065000	0.61736	0.539000	0.68188	CGG		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	52	0	0	0	1	0	4	52				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000454497.2_Silent_p.H897H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						uc003ika.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G			Somatic					p.H897H	NM_001102653	NP_001096123	WXS	Illumina GAIIx	Phase_I	Q01804	OTUD4_HUMAN			20	2829	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	185	0	0	0	1	0	4	185				
C2CD3	26005	broad.mit.edu	37	11	73759286	73759286	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:73759286G>A	ENST00000334126.7	-	28	5685	c.5459C>T	c.(5458-5460)gCc>gTc	p.A1820V	C2CD3_ENST00000313663.7_Missense_Mutation_p.A1820V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1820					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTTTGAGGAGGCATGAGCAAG	0.473																																						uc001ouu.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(5458-5460)gCc>gTc		Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.							84.0	74.0	78.0					11																	73759286		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73759286G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5459C>T	11.37:g.73759286G>A	ENSP00000334379:p.Ala1820Val		Somatic				C2CD3_uc001out.3_Non-coding_Transcript	p.A1820V	NM_015531	NP_056346	WXS	Illumina GAIIx	Phase_I	Q4AC94	C2CD3_HUMAN			27	5686	-	Breast(11;4.16e-06)		1820					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5459C>T		.	.	.	.	.	.	.	.	.	.	G	0.134	-1.110340	0.01813	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.14144	2.93;2.94;2.53	4.75	-2.23	0.06930	.	1.093190	0.06692	N	0.769884	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42783	-0.9431	10	0.17369	T	0.5	3.3706	5.1379	0.14945	0.4907:0.1542:0.3551:0.0	.	1820	Q4AC94-1	.	V	1820;1820;1801;628	ENSP00000334379:A1820V;ENSP00000323339:A1820V;ENSP00000388750:A628V	ENSP00000323339:A1820V	A	-	2	0	C2CD3	73436934	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.747000	0.26290	-0.189000	0.10482	-0.982000	0.02568	GCC		0.473	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		6	20	0	0	0	1	0	6	20				
RET	5979	broad.mit.edu	37	10	43606831	43606831	+	Silent	SNP	A	A	G			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:43606831A>G	ENST00000355710.3	+	7	1672	c.1440A>G	c.(1438-1440)gaA>gaG	p.E480E	RET_ENST00000340058.5_Silent_p.E480E	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	480			E -> K (in HSCR1). {ECO:0000269|PubMed:22174939}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGTGTGCCGAACTTCACTACA	0.627		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1438-1440)gaA>gaG		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)						63.0	59.0	60.0					10																	43606831		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606831A>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1440A>G	10.37:g.43606831A>G			Somatic				RET_uc001jak.1_Silent_p.E480E|RET_uc010qez.1_Silent_p.E226E	p.E480E	NM_020975	NP_066124	WXS	Illumina GAIIx	Phase_I	P07949	RET_HUMAN			6	1630	+		Ovarian(717;0.0423)	480					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1440A>G	CCDS7200.1																																																																																				0.627	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		26	61	0	0	0	1	0	26	61				
SERPINE3	647174	broad.mit.edu	37	13	51915275	51915275	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr13:51915275C>T	ENST00000521255.1	+	1	108	c.48C>T	c.(46-48)ctC>ctT	p.L16L	SERPINE3_ENST00000524365.1_Silent_p.L16L|SERPINE3_ENST00000400389.4_Silent_p.L16L	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	16					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						CTTGCTGCCTCCGAGCAAATG	0.542																																						uc001vfh.2																			0				ovary(2)	2						c.(46-48)ctC>ctT		Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.							96.0	99.0	98.0					13																	51915275		2114	4243	6357	SO:0001819	synonymous_variant	647174				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr13:51915275C>T	AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"""Serine (or cysteine) peptidase inhibitors"""	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.48C>T	13.37:g.51915275C>T			Somatic				SERPINE3_uc010tgp.2_Silent_p.L16L	p.L16L	NM_001101320	NP_001094790	WXS	Illumina GAIIx	Phase_I	A8MV23	SERP3_HUMAN			0	108	+			16					B1V8P3	Silent	SNP	ENST00000521255.1	37	c.48C>T	CCDS53870.1																																																																																				0.542	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045021.2	NM_001101320		22	75	0	0	0	1	0	22	75				
KLHDC7A	127707	broad.mit.edu	37	1	18807491	18807491	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:18807491G>A	ENST00000400664.1	+	1	68	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	6						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGAGGAGCAGAGGCCCA	0.567																																						uc001bax.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(16-18)Gca>Aca		Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.							52.0	59.0	57.0					1																	18807491		2024	4198	6222	SO:0001583	missense	127707					integral to membrane		g.chr1:18807491G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.16G>A	1.37:g.18807491G>A	ENSP00000383505:p.Ala6Thr		Somatic				KLHDC7A_uc009vpg.3_5'Flank	p.A6T	NM_152375	NP_689588	WXS	Illumina GAIIx	Phase_I	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	68	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	6					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.16G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488478	0.26686	.	.	ENSG00000179023	ENST00000400664	T	0.77098	-1.07	5.62	2.73	0.32206	.	.	.	.	.	T	0.57725	0.2073	N	0.14661	0.345	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.45906	-0.9229	9	0.40728	T	0.16	.	4.6249	0.12474	0.3067:0.0:0.5512:0.1421	.	6	Q5VTJ3	KLD7A_HUMAN	T	6	ENSP00000383505:A6T	ENSP00000383505:A6T	A	+	1	0	KLHDC7A	18680078	0.063000	0.20901	0.866000	0.34008	0.182000	0.23217	0.507000	0.22675	0.322000	0.23283	-0.229000	0.12294	GCA		0.567	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		17	60	0	0	0	1	0	17	60				
VDR	7421	broad.mit.edu	37	12	48240527	48240527	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:48240527G>A	ENST00000395324.2	-	8	1088	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	VDR_ENST00000535672.1_Missense_Mutation_p.R242C|VDR_ENST00000549336.1_Missense_Mutation_p.R274C|VDR_ENST00000229022.3_Missense_Mutation_p.R274C|VDR_ENST00000550325.1_Missense_Mutation_p.R324C			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	274	Ligand-binding.|Vitamin D3 binding.		R -> L (in VDDR2A; decreases affinity for ligand by a factor of 1000). {ECO:0000269|PubMed:8392085}.		bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTGGAGCGCAACATGATG	0.542																																						uc001rql.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(970-972)Cgc>Tgc		Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						207.0	148.0	168.0					12																	48240527		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48240527G>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.820C>T	12.37:g.48240527G>A	ENSP00000378734:p.Arg274Cys		Somatic				VDR_uc001rqm.3_Missense_Mutation_p.R274C|VDR_uc001rqn.3_Missense_Mutation_p.R274C|VDR_uc010slq.2_Missense_Mutation_p.R242C	p.R324C	NM_001017536	NP_001017536	WXS	Illumina GAIIx	Phase_I	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	7	1371	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	274			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.970C>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265827	0.80358	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;0.993;1.0	D	0.99243	1.0885	10	0.87932	D	0	.	16.673	0.85271	0.0:0.0:1.0:0.0	.	242;274;324	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	C	274;274;274;324;242	ENSP00000378734:R274C;ENSP00000229022:R274C;ENSP00000449573:R274C;ENSP00000447173:R324C;ENSP00000442145:R242C	ENSP00000229022:R274C	R	-	1	0	VDR	46526794	1.000000	0.71417	0.991000	0.47740	0.412000	0.31113	7.747000	0.85070	2.623000	0.88846	0.655000	0.94253	CGC		0.542	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			3	79	0	0	0	1	0	3	79				
STAT2	6773	broad.mit.edu	37	12	56748323	56748323	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:56748323C>T	ENST00000314128.4	-	8	732	c.709G>A	c.(709-711)Gag>Aag	p.E237K	STAT2_ENST00000557235.1_Missense_Mutation_p.E233K|RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000418572.2_Missense_Mutation_p.E233K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	237					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GCCTTCCACTCCTCCAACTTT	0.542																																						uc001slc.3																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(709-711)Gag>Aag		Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.							141.0	114.0	123.0					12																	56748323		2203	4300	6503	SO:0001583	missense	6773				JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56748323C>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.709G>A	12.37:g.56748323C>T	ENSP00000315768:p.Glu237Lys		Somatic				STAT2_uc001sld.3_Missense_Mutation_p.E233K|STAT2_uc010sqn.2_Missense_Mutation_p.E233K	p.E237K	NM_005419	NP_005410	WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			7	912	-			237					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.709G>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604935	0.66445	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	T;T;T	0.61627	0.09;0.09;0.09	4.78	2.92	0.33932	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.285481	0.37437	N	0.002083	T	0.64583	0.2611	M	0.81497	2.545	0.46061	D	0.998846	P;P;P	0.49090	0.84;0.744;0.919	P;P;P	0.50896	0.653;0.543;0.61	T	0.63184	-0.6694	10	0.34782	T	0.22	-9.5053	9.4043	0.38451	0.0:0.7737:0.1454:0.0809	.	233;233;237	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	K	237;233;233	ENSP00000315768:E237K;ENSP00000450751:E233K;ENSP00000387354:E233K	ENSP00000315768:E237K	E	-	1	0	STAT2	55034590	0.973000	0.33851	0.039000	0.18376	0.329000	0.28539	2.523000	0.45580	0.706000	0.31912	0.591000	0.81541	GAG		0.542	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		7	127	0	0	0	1	0	7	127				
PGBD3	267004	broad.mit.edu	37	10	50723850	50723850	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:50723850G>A	ENST00000374127.3	-	2	1512	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	ERCC6-PGBD3_ENST00000515869.1_Silent_p.Y905Y|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Silent_p.Y905Y|PGBD3_ENST00000508005.2_Silent_p.Y437Y|ERCC6-PGBD3_ENST00000447839.2_Silent_p.Y905Y	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	437										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTTTCTGGGAGTAACGACTGA	0.438																																						uc009xoe.3																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2713-2715)taC>taT	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens piggyBac transposable element derived 3 (PGBD3), mRNA.							136.0	125.0	129.0					10																	50723850		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding	g.chr10:50723850G>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1311C>T	10.37:g.50723850G>A			Somatic				ERCC6_uc001jhs.4_Intron|ERCC6_uc001jht.3_Silent_p.Y437Y|ERCC6_uc001jhu.3_Silent_p.Y905Y|ERCC6_uc021pqe.1_Silent_p.Y437Y	p.Y905Y	NM_170753	NP_736609	WXS	Illumina GAIIx	Phase_I	Q03468	ERCC6_HUMAN			5	2869	-			1331			Helicase C-terminal.		B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	c.2715C>T	CCDS7230.1																																																																																				0.438	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			4	198	0	0	0	1	0	4	198				
CFH	3075	broad.mit.edu	37	1	196715005	196715005	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr1:196715005C>T	ENST00000367429.4	+	21	3609	c.3369C>T	c.(3367-3369)ttC>ttT	p.F1123F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1123	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACTTCATTCCCGTTGTCAG	0.403																																						uc001gtj.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3367-3369)ttC>ttT		Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							121.0	117.0	118.0					1																	196715005		2203	4297	6500	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196715005C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3369C>T	1.37:g.196715005C>T			Somatic				CFH_uc021pgt.1_Intron	p.F1123F	NM_000186	NP_000177	WXS	Illumina GAIIx	Phase_I	P08603	CFAH_HUMAN			20	3609	+			1123			Sushi 19.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3369C>T	CCDS1385.1																																																																																				0.403	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		11	137	0	0	0	1	0	11	137				
CREB3L3	84699	broad.mit.edu	37	19	4171092	4171092	+	Missense_Mutation	SNP	C	C	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr19:4171092C>A	ENST00000078445.2	+	8	1042	c.895C>A	c.(895-897)Ctc>Atc	p.L299I	CREB3L3_ENST00000602257.1_Missense_Mutation_p.L297I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P263H|CREB3L3_ENST00000595923.1_Missense_Mutation_p.L298I|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	299	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTAAGGTCCCTCTTGGAGCA	0.602																																						uc002lzl.3																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(895-897)Ctc>Atc		Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.							79.0	74.0	76.0					19																	4171092		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171092C>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.895C>A	19.37:g.4171092C>A	ENSP00000078445:p.Leu299Ile		Somatic				CREB3L3_uc002lzm.3_Missense_Mutation_p.L289I|CREB3L3_uc010xib.2_Missense_Mutation_p.L288I|CREB3L3_uc010xic.2_Missense_Mutation_p.P254H	p.L299I	NM_032607	NP_115996	WXS	Illumina GAIIx	Phase_I	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1011	+			299			Leucine-zipper.		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.895C>A	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432416	0.83776	.	.	ENSG00000060566	ENST00000078445	T	0.65178	-0.14	4.98	4.98	0.66077	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	.	.	.	.	T	0.79890	0.4524	M	0.81179	2.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.82418	-0.0467	9	0.59425	D	0.04	-40.8717	15.7209	0.77710	0.0:1.0:0.0:0.0	.	297;298;299	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	I	299	ENSP00000078445:L299I	ENSP00000078445:L299I	L	+	1	0	CREB3L3	4122092	0.998000	0.40836	0.998000	0.56505	0.990000	0.78478	3.517000	0.53443	2.303000	0.77524	0.561000	0.74099	CTC		0.602	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		3	73	0	0	0	1	0	3	73				
BTK	695	broad.mit.edu	37	X	100630267	100630267	+	Silent	SNP	G	G	A	rs372818780		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chrX:100630267G>A	ENST00000308731.7	-	2	169	c.6C>T	c.(4-6)gcC>gcT	p.A2A	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.A2A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	2					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAATCACTGCGGCCATAGCTT	0.468									Agammaglobulinemia, X-linked																													uc010nno.2																			0		p.H35N(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(106-108)gcC>gcT		Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.							130.0	119.0	123.0					X																	100630267		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630267G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.6C>T	X.37:g.100630267G>A			Somatic				BTK_uc004ehg.2_Silent_p.A2A|BTK_uc010nnn.2_Silent_p.A2A|BTK_uc004ehi.3_Silent_p.A2A	p.A36A	NM_000061	NP_000052	WXS	Illumina GAIIx	Phase_I	Q06187	BTK_HUMAN			1	341	-			2			PH.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.108C>T	CCDS14482.1																																																																																				0.468	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		9	111	0	0	0	1	0	9	111				
TDRD7	23424	broad.mit.edu	37	9	100227245	100227245	+	Missense_Mutation	SNP	G	G	A	rs376918636		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr9:100227245G>A	ENST00000355295.4	+	8	1859	c.1564G>A	c.(1564-1566)Gta>Ata	p.V522I	TDRD7_ENST00000422139.2_Missense_Mutation_p.V448I	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	522	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTTGCTGGCCGTAAATGCCGA	0.448																																						uc004axj.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1564-1566)Gta>Ata		Homo sapiens tudor domain containing 7 (TDRD7), mRNA.		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	99.0	89.0	93.0		1564	3.5	0.0	9		93	0,8600		0,0,4300	no	missense	TDRD7	NM_014290.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	522/1099	100227245	1,13005	2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100227245G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1564G>A	9.37:g.100227245G>A	ENSP00000347444:p.Val522Ile		Somatic				TDRD7_uc011lux.2_Missense_Mutation_p.V448I	p.V522I	NM_014290	NP_055105	WXS	Illumina GAIIx	Phase_I	Q8NHU6	TDRD7_HUMAN			7	1789	+		Acute lymphoblastic leukemia(62;0.158)	522			Tudor 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.1564G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461506	0.43736	2.27E-4	0.0	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.13538	2.58;2.58	5.32	3.51	0.40186	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.165964	0.52532	N	0.000061	T	0.31765	0.0807	M	0.73962	2.25	0.42496	D	0.992917	D	0.89917	1.0	D	0.63113	0.911	T	0.03384	-1.1042	10	0.45353	T	0.12	-14.303	11.24	0.48964	0.1455:0.0:0.8545:0.0	.	522	Q8NHU6	TDRD7_HUMAN	I	522;448	ENSP00000347444:V522I;ENSP00000413608:V448I	ENSP00000347444:V522I	V	+	1	0	TDRD7	99267066	1.000000	0.71417	0.011000	0.14972	0.432000	0.31715	5.012000	0.64017	0.772000	0.33382	-1.012000	0.02466	GTA		0.448	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		3	64	0	0	0	1	0	3	64				
SLC28A1	9154	broad.mit.edu	37	15	85461766	85461766	+	Silent	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr15:85461766C>T	ENST00000286749.3	+	9	897	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC28A1_ENST00000537216.1_Silent_p.I269I|SLC28A1_ENST00000537624.1_Silent_p.I269I|SLC28A1_ENST00000537703.1_Silent_p.I191I|SLC28A1_ENST00000538177.1_Silent_p.I269I|SLC28A1_ENST00000394573.1_Silent_p.I269I			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	269					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TTCTGCCCATCATTGTCTTTT	0.597																																						uc002blg.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(805-807)atC>atT		Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.							249.0	230.0	237.0					15																	85461766		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85461766C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.807C>T	15.37:g.85461766C>T			Somatic				SLC28A1_uc010upd.1_Silent_p.I191I|SLC28A1_uc010bnb.3_Silent_p.I269I|SLC28A1_uc010upe.2_Silent_p.I269I|SLC28A1_uc010upf.1_Silent_p.I269I|SLC28A1_uc010upg.1_Silent_p.I269I	p.I269I	NM_004213	NP_004204	WXS	Illumina GAIIx	Phase_I	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		9	1009	+			269					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.807C>T	CCDS10334.1																																																																																				0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			5	150	0	0	0	1	0	5	150				
C12orf10	60314	broad.mit.edu	37	12	53700517	53700517	+	Silent	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr12:53700517G>A	ENST00000267103.5	+	6	871	c.819G>A	c.(817-819)aaG>aaA	p.K273K	C12orf10_ENST00000548632.1_Silent_p.K198K|C12orf10_ENST00000549488.1_Silent_p.K110K|AAAS_ENST00000549983.1_5'Flank	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	273					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTCCCTGGAAGGAGCATCTCT	0.532																																						uc001scp.4																			0		p.W272R(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						c.(817-819)aaG>aaA		Homo sapiens chromosome 12 open reading frame 10 (C12orf10), mRNA.							149.0	124.0	132.0					12																	53700517		2203	4300	6503	SO:0001819	synonymous_variant	60314							g.chr12:53700517G>A	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.819G>A	12.37:g.53700517G>A			Somatic				C12orf10_uc009zmx.3_Silent_p.K222K|C12orf10_uc001scq.4_Silent_p.K158K	p.K273K	NM_021640	NP_067653	WXS	Illumina GAIIx	Phase_I	Q86UA3	Q86UA3_HUMAN			5	871	+			273						Silent	SNP	ENST00000267103.5	37	c.819G>A	CCDS31810.1																																																																																				0.532	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		3	145	0	0	0	1	0	3	145				
VWA3B	200403	broad.mit.edu	37	2	98809456	98809456	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:98809456G>A	ENST00000477737.1	+	11	1766	c.1562G>A	c.(1561-1563)aGc>aAc	p.S521N	VWA3B_ENST00000451075.2_Missense_Mutation_p.S371N|VWA3B_ENST00000435344.1_Missense_Mutation_p.S521N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	521	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCAATGAAGAGCAAACTGGAC	0.423																																						uc002syo.3																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1561-1563)aGc>aAc		Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.							178.0	165.0	169.0					2																	98809456		1951	4161	6112	SO:0001583	missense	200403							g.chr2:98809456G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1562G>A	2.37:g.98809456G>A	ENSP00000417955:p.Ser521Asn		Somatic				VWA3B_uc010yvh.2_Missense_Mutation_p.S371N|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.S40N|VWA3B_uc002sym.3_Missense_Mutation_p.S521N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.S178N|VWA3B_uc002syp.1_5'UTR	p.S521N	NM_144992	NP_659429	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			10	1826	+			521			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1562G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691776	0.68271	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.78246	-1.16;3.1;-1.16	5.59	1.55	0.23275	von Willebrand factor, type A (3);	0.364542	0.25386	N	0.031045	T	0.58878	0.2153	L	0.29908	0.895	0.21719	N	0.999577	B;B;B;B	0.26902	0.082;0.163;0.045;0.002	B;B;B;B	0.33960	0.033;0.173;0.033;0.005	T	0.46373	-0.9196	10	0.05620	T	0.96	.	4.1792	0.10367	0.4273:0.1668:0.4058:0.0	.	371;521;521;521	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	N	521;521;371	ENSP00000401959:S521N;ENSP00000417955:S521N;ENSP00000389463:S371N	ENSP00000388158:S521N	S	+	2	0	VWA3B	98175888	1.000000	0.71417	0.957000	0.39632	0.993000	0.82548	1.881000	0.39638	0.240000	0.21263	0.650000	0.86243	AGC		0.423	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		6	140	0	0	0	1	0	6	140				
POTEE	445582	broad.mit.edu	37	2	132021599	132021599	+	Silent	SNP	C	C	T	rs531655290	byFrequency	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:132021599C>T	ENST00000356920.5	+	15	2665	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	857	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ACTCTGGTGACGGGGTCACCC	0.617													.|||	4	0.000798722	0.0	0.0014	5008	,	,		23413	0.0		0.0	False		,,,				2504	0.0031					uc002tsn.2																			0											c.(2569-2571)gaC>gaT		Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.							67.0	68.0	67.0					2																	132021599		2144	4178	6322	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021599C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2571C>T	2.37:g.132021599C>T			Somatic				PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.D457D|POTEE_uc002tsl.2_Silent_p.D439D|POTEE_uc010fmy.1_Silent_p.D321D	p.D857D	NM_001083538	NP_001077007	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			14	2623	+			857			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2571C>T	CCDS46414.1																																																																																				0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	234	0	0	0	1	0	6	234				
HOXD12	3238	broad.mit.edu	37	2	176965332	176965332	+	Missense_Mutation	SNP	C	C	A	rs535102738	byFrequency	TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:176965332C>A	ENST00000406506.2	+	2	729	c.657C>A	c.(655-657)aaC>aaA	p.N219K	HOXD12_ENST00000404162.2_Silent_p.R229R			P35452	HXD12_HUMAN	homeobox D12	219					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		AGTTGGAGAACGAATTCCTCG	0.567																																						uc010zev.1																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(655-657)aaC>aaA		Homo sapiens homeobox D12 (HOXD12), mRNA.							34.0	36.0	36.0					2																	176965332		1963	4163	6126	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176965332C>A		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.657C>A	2.37:g.176965332C>A	ENSP00000385586:p.Asn219Lys		Somatic				HOXD12_uc021vsp.1_3'UTR	p.N219K	NM_021193	NP_067016	WXS	Illumina GAIIx	Phase_I	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	657	+			219					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.657C>A	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377746	0.61735	.	.	ENSG00000170178	ENST00000406506	D	0.95588	-3.75	5.29	3.48	0.39840	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	N	0.01424	-0.875	0.80722	D	1	P	0.35050	0.482	B	0.34722	0.188	T	0.79931	-0.1595	10	0.02654	T	1	.	7.701	0.28623	0.0:0.7219:0.1335:0.1446	.	219	P35452	HXD12_HUMAN	K	219	ENSP00000385586:N219K	ENSP00000385586:N219K	N	+	3	2	HOXD12	176673578	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.452000	0.21795	0.615000	0.30124	0.655000	0.94253	AAC		0.567	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		5	27	0	0	0	1	0	5	27				
SLCO2B1	11309	broad.mit.edu	37	11	74911324	74911324	+	Missense_Mutation	SNP	C	C	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr11:74911324C>A	ENST00000289575.5	+	11	2050	c.1655C>A	c.(1654-1656)tCc>tAc	p.S552Y	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S530Y|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S408Y|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S325Y|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S297Y|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S436Y	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	552					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CTGGCAGGATCCTGCGACTCA	0.622																																						uc001owb.3																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1654-1656)tCc>tAc		Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	Ergoloid mesylate(DB01049)						118.0	108.0	111.0					11																	74911324		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74911324C>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1655C>A	11.37:g.74911324C>A	ENSP00000289575:p.Ser552Tyr		Somatic				SLCO2B1_uc010rrq.2_Missense_Mutation_p.S297Y|SLCO2B1_uc010rrr.2_Missense_Mutation_p.S408Y|SLCO2B1_uc010rrs.2_Missense_Mutation_p.S436Y|SLCO2B1_uc001owc.3_Missense_Mutation_p.S325Y|SLCO2B1_uc001owd.3_Missense_Mutation_p.S530Y	p.S552Y	NM_007256	NP_001138683	WXS	Illumina GAIIx	Phase_I	O94956	SO2B1_HUMAN			10	2050	+			552					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1655C>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210404	0.58343	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.061393	0.64402	D	0.000005	T	0.59252	0.2180	L	0.55481	1.735	0.51233	D	0.99991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.991;0.995	T	0.53373	-0.8448	10	0.30854	T	0.27	.	16.6086	0.84837	0.0:1.0:0.0:0.0	.	408;297;325;552	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	Y	552;325;436;297;408;325;530	ENSP00000289575:S552Y;ENSP00000341286:S325Y;ENSP00000434112:S436Y;ENSP00000432650:S297Y;ENSP00000436324:S408Y;ENSP00000389653:S325Y;ENSP00000388912:S530Y	ENSP00000289575:S552Y	S	+	2	0	SLCO2B1	74588972	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.876000	0.56115	2.524000	0.85096	0.462000	0.41574	TCC		0.622	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		12	218	0	0	0	1	0	12	218				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		38	65	0	0	0	1	0	38	65				
GLB1L	79411	broad.mit.edu	37	2	220108253	220108253	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr2:220108253G>A	ENST00000295759.7	-	2	356	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	STK16_ENST00000409260.1_5'Flank|GLB1L_ENST00000409640.1_Missense_Mutation_p.P15S|STK16_ENST00000409516.3_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.P15S|STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409638.3_5'Flank|STK16_ENST00000409743.1_5'Flank|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15S			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	15					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTGAGCGGCAGCAGCAGG	0.612																																						uc002vkm.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(43-45)Ccg>Tcg		Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.							77.0	67.0	71.0					2																	220108253		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220108253G>A		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.43C>T	2.37:g.220108253G>A	ENSP00000295759:p.Pro15Ser		Somatic				GLB1L_uc010zkx.2_Missense_Mutation_p.P15S|GLB1L_uc002vkn.3_Missense_Mutation_p.P15S|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	p.P15S	NM_024506	NP_078782	WXS	Illumina GAIIx	Phase_I	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	282	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	15					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.43C>T	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295889	0.40594	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427;ENST00000424620	D;D;D;D;D	0.96885	-4.16;-3.9;-4.16;-3.9;-3.18	4.97	2.2	0.27929	.	1.389420	0.04151	N	0.321248	D	0.90280	0.6960	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.81818	-0.0758	10	0.22109	T	0.4	1.4498	8.2287	0.31584	0.2672:0.0:0.7328:0.0	.	15;15	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	S	15	ENSP00000295759:P15S;ENSP00000386354:P15S;ENSP00000375939:P15S;ENSP00000348628:P15S;ENSP00000400738:P15S	ENSP00000295759:P15S	P	-	1	0	GLB1L	219816497	0.619000	0.27059	0.578000	0.28575	0.644000	0.38419	0.957000	0.29215	0.804000	0.34136	-0.253000	0.11424	CCG		0.612	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		3	100	0	0	0	1	0	3	100				
ZMIZ1	57178	broad.mit.edu	37	10	81058872	81058872	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SH-01A-11D-A22D-08	TCGA-FK-A3SH-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1d7dcb3-395a-4247-8e8c-6867993079e0	3f74cc8e-932d-4dad-b056-bc700db6551e	g.chr10:81058872C>T	ENST00000334512.5	+	16	2304	c.1732C>T	c.(1732-1734)Cgc>Tgc	p.R578C		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	578					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGAGCCCTTCCGCCTGGAGCA	0.662																																						uc001kaf.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1732-1734)Cgc>Tgc		Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.							85.0	66.0	72.0					10																	81058872		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058872C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1732C>T	10.37:g.81058872C>T	ENSP00000334474:p.Arg578Cys		Somatic				ZMIZ1_uc001kag.2_Missense_Mutation_p.R454C	p.R578C	NM_020338	NP_065071	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		15	2304	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		578					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1732C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402258	0.83230	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.52754	0.65	5.6	4.64	0.57946	.	0.000000	0.41823	D	0.000818	T	0.69043	0.3067	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73248	-0.4043	10	0.87932	D	0	-19.6485	15.2938	0.73888	0.1407:0.8593:0.0:0.0	.	578	Q9ULJ6	ZMIZ1_HUMAN	C	578;508;484	ENSP00000334474:R578C	ENSP00000334474:R578C	R	+	1	0	ZMIZ1	80728878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.332000	0.43903	2.636000	0.89361	0.585000	0.79938	CGC		0.662	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		4	68	0	0	0	1	0	4	68				
