#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PICK1	9463	broad.mit.edu	37	22	38455291	38455291	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:38455291A>G	ENST00000404072.3	+	3	439	c.92A>G	c.(91-93)aAc>aGc	p.N31S	PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Missense_Mutation_p.N31S|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	31	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GATGCTCAGAACCTGATCGGG	0.572																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(91-93)aAc>aGc		protein interacting with PRKCA 1							110.0	76.0	88.0					22																	38455291		2201	4298	6499	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38455291A>G	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.92A>G	22.37:g.38455291A>G	ENSP00000385205:p.Asn31Ser					PICK1_ENST00000356976.3_Missense_Mutation_p.N31S|PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA	p.N31S	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			3	439	+	Melanoma(58;0.045)		31			PDZ.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.92A>G	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303643	0.81136	.	.	ENSG00000100151	ENST00000445628;ENST00000404072;ENST00000424694;ENST00000437453;ENST00000356976;ENST00000435166	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.89	4.89	0.63831	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.60429	-0.7265	10	0.62326	D	0.03	-38.9209	14.8239	0.70094	1.0:0.0:0.0:0.0	.	31	Q9NRD5	PICK1_HUMAN	S	31	ENSP00000385205:N31S;ENSP00000398141:N31S;ENSP00000410793:N31S;ENSP00000349465:N31S;ENSP00000397588:N31S	ENSP00000349465:N31S	N	+	2	0	PICK1	36785237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.943000	0.92975	1.951000	0.56629	0.460000	0.39030	AAC		0.572	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		4	7	0	0	0	0.014758	0	4	7				
KDM2B	84678	broad.mit.edu	37	12	121880538	121880538	+	Silent	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:121880538G>A	ENST00000377071.4	-	19	2778	c.2706C>T	c.(2704-2706)ccC>ccT	p.P902P	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P270P|KDM2B_ENST00000377069.4_Silent_p.P833P	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	902					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTGGTCTTGGGGGGCGCCT	0.697																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2497-2499)ccC>ccT		lysine (K)-specific demethylase 2B							10.0	11.0	11.0					12																	121880538		1871	4062	5933	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880538G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2706C>T	12.37:g.121880538G>A						KDM2B_ENST00000377071.4_Silent_p.P902P|KDM2B_ENST00000542973.1_Silent_p.P270P|KDM2B_ENST00000536437.1_Intron	p.P833P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	2905	-			902					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2499C>T	CCDS41850.1																																																																																				0.697	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		4	22	0	0	0	0.009096	0	4	22				
SBNO2	22904	broad.mit.edu	37	19	1113561	1113561	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:1113561C>T	ENST00000361757.3	-	19	2457	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	740					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCCCAGCTGGTCGATGA	0.697																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2218-2220)caG>caA		strawberry notch homolog 2 (Drosophila)							15.0	21.0	19.0					19																	1113561		1925	4105	6030	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1113561C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2220G>A	19.37:g.1113561C>T						SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	p.Q740Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2457	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	740					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.2220G>A	CCDS45894.1																																																																																				0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		4	59	0	0	0	0.009096	0	4	59				
PIPSL	266971	broad.mit.edu	37	10	95720147	95720147	+	RNA	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:95720147C>T	ENST00000480546.1	-	0	1150					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TTTACTATTCCGGGCAGGGAT	0.502																																						ENST00000480546.1																			0																																																			0							g.chr10:95720147C>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720147C>T								NR_002319.2						0	1150	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.502	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		10	80	0	0	0	0.008291	0	10	80				
TRIM33	51592	broad.mit.edu	37	1	114942114	114942114	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:114942114G>A	ENST00000358465.2	-	18	3168	c.3085C>T	c.(3085-3087)Cgt>Tgt	p.R1029C	TRIM33_ENST00000369543.2_Missense_Mutation_p.R1029C|TRIM33_ENST00000450349.2_Missense_Mutation_p.R661C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1029	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGATCAAACGGACATCGGCC	0.343			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(3085-3087)Cgt>Tgt		tripartite motif containing 33							125.0	134.0	131.0					1																	114942114		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114942114G>A	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.3085C>T	1.37:g.114942114G>A	ENSP00000351250:p.Arg1029Cys					TRIM33_ENST00000450349.2_Missense_Mutation_p.R661C|TRIM33_ENST00000369543.2_Missense_Mutation_p.R1029C	p.R1029C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3168	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	1029			Bromo.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.3085C>T	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187319	0.78789	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.31247	1.5;1.5;1.5	5.4	4.48	0.54585	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	H	0.95745	3.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.998	T	0.73626	-0.3923	10	0.87932	D	0	-7.2009	13.4008	0.60881	0.0:0.0:0.698:0.302	.	661;661;1029;1029	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.;.;.;TRI33_HUMAN	C	1029;1029;661	ENSP00000351250:R1029C;ENSP00000358556:R1029C;ENSP00000412077:R661C	ENSP00000351250:R1029C	R	-	1	0	TRIM33	114743637	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.349000	0.66010	1.376000	0.46267	0.650000	0.86243	CGT		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		24	135	0	0	0	0.018920	0	24	135				
FGD5	152273	broad.mit.edu	37	3	14863047	14863047	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14863047G>A	ENST00000285046.5	+	1	2579	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	823					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACGTGGACATGAGCAGCTTCA	0.532																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(2467-2469)atG>atA		FYVE, RhoGEF and PH domain containing 5							41.0	44.0	43.0					3																	14863047		2201	4296	6497	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14863047G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2469G>A	3.37:g.14863047G>A	ENSP00000285046:p.Met823Ile					FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	p.M823I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			1	2579	+			823					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2469G>A	CCDS46767.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.554398|4.554398	0.86231|0.86231	.|.	.|.	ENSG00000154783|ENSG00000154783	ENST00000457774|ENST00000285046;ENST00000543601	.|T;T	.|0.77620	.|-1.11;-0.94	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.88020|0.88020	0.6325|0.6325	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.78314	.|0.991;0.967	D|D	0.88797|0.88797	0.3282|0.3282	5|10	.|0.59425	.|D	.|0.04	-39.1015|-39.1015	18.7482|18.7482	0.91802|0.91802	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|582;823	.|B7ZM68;Q6ZNL6	.|.;FGD5_HUMAN	K|I	37|823;582	.|ENSP00000285046:M823I;ENSP00000445949:M582I	.|ENSP00000285046:M823I	E|M	+|+	1|3	0|0	FGD5|FGD5	14838051|14838051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.235000|9.235000	0.95353|0.95353	2.495000|2.495000	0.84180|0.84180	0.591000|0.591000	0.81541|0.81541	GAG|ATG		0.532	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		8	65	0	0	0	0.003080	0	8	65				
ACCSL	390110	broad.mit.edu	37	11	44080233	44080233	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:44080233C>T	ENST00000378832.1	+	13	1664	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	536					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGATGAGCTCCCCCGGCTAA	0.493																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1606-1608)ctC>ctT		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							50.0	52.0	51.0					11																	44080233		1866	4099	5965	SO:0001819	synonymous_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44080233C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1608C>T	11.37:g.44080233C>T							p.L536L	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			13	1664	+			536						Silent	SNP	ENST00000378832.1	37	c.1608C>T	CCDS41636.1																																																																																				0.493	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		22	54	0	0	0	0.014323	0	22	54				
SHH	6469	broad.mit.edu	37	7	155599019	155599019	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:155599019T>C	ENST00000297261.2	-	2	683	c.533A>G	c.(532-534)aAg>aGg	p.K178R	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	178			Missing (in HPE3). {ECO:0000269|PubMed:15221788, ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATATGTGCCTTGGACTCGTA	0.632																																						ENST00000297261.2																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(532-534)aAg>aGg		sonic hedgehog							72.0	67.0	69.0					7																	155599019		2203	4299	6502	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599019T>C		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.533A>G	7.37:g.155599019T>C	ENSP00000297261:p.Lys178Arg						p.K178R	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	683	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	178		Missing (in HPE3).			A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.533A>G	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105420	0.37145	.	.	ENSG00000164690	ENST00000297261;ENST00000430104	D;D	0.99409	-5.56;-5.85	3.35	3.35	0.38373	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	N	0.01656	-0.775	0.54753	D	0.999984	D;P;B	0.64830	0.994;0.481;0.263	D;B;B	0.77004	0.989;0.333;0.08	D	0.94915	0.8068	10	0.12103	T	0.63	.	12.2036	0.54340	0.0:0.0:0.0:1.0	.	178;181;91	Q15465;D9ZGF9;C9JC48	SHH_HUMAN;.;.	R	178;91	ENSP00000297261:K178R;ENSP00000396621:K91R	ENSP00000297261:K178R	K	-	2	0	SHH	155291780	1.000000	0.71417	0.985000	0.45067	0.965000	0.64279	5.903000	0.69877	1.515000	0.48885	0.459000	0.35465	AAG		0.632	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		17	101	0	0	0	0.008871	0	17	101				
DPEP1	1800	broad.mit.edu	37	16	89703634	89703634	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:89703634G>A	ENST00000393092.3	+	7	905	c.614G>A	c.(613-615)cGt>cAt	p.R205H	DPEP1_ENST00000421184.1_Missense_Mutation_p.R205H|DPEP1_ENST00000261615.4_Missense_Mutation_p.R205H	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	205					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GAGCTGAACCGTCTGGGGGTC	0.662																																						ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(613-615)cGt>cAt		dipeptidase 1 (renal)	Cilastatin(DB01597)						70.0	72.0	71.0					16																	89703634		2192	4294	6486	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703634G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.614G>A	16.37:g.89703634G>A	ENSP00000376807:p.Arg205His					DPEP1_ENST00000421184.1_Missense_Mutation_p.R205H|DPEP1_ENST00000261615.4_Missense_Mutation_p.R205H	p.R205H	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	7	905	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	205					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.614G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579302	0.86645	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.27557	1.66;1.66;1.66	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79004	-0.1980	10	0.87932	D	0	-25.9989	18.7402	0.91770	0.0:0.0:1.0:0.0	.	205	P16444	DPEP1_HUMAN	H	205	ENSP00000397313:R205H;ENSP00000376807:R205H;ENSP00000261615:R205H	ENSP00000261615:R205H	R	+	2	0	DPEP1	88231135	1.000000	0.71417	0.982000	0.44146	0.420000	0.31355	7.585000	0.82584	2.431000	0.82371	0.491000	0.48974	CGT		0.662	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		10	58	0	0	0	0.008291	0	10	58				
NRXN1	9378	broad.mit.edu	37	2	50464003	50464003	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:50464003C>T	ENST00000406316.2	-	18	4946	c.3470G>A	c.(3469-3471)aGc>aAc	p.S1157N	NRXN1_ENST00000401669.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000404971.1_Missense_Mutation_p.S1197N|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1157N|NRXN1_ENST00000401710.1_Missense_Mutation_p.S175N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000342183.5_Missense_Mutation_p.S122N|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1149N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1157	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGAACAGTGCTAAAACCTAT	0.448																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3589-3591)aGc>aAc		neurexin 1							124.0	111.0	115.0					2																	50464003		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50464003C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3470G>A	2.37:g.50464003C>T	ENSP00000384311:p.Ser1157Asn					NRXN1_ENST00000405472.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.S175N|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000342183.5_Missense_Mutation_p.S122N|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1157N	p.S1197N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		19	4929	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1157			Laminin G-like 6.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.3590G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245244	0.95272	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.79554	0.98;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	D	0.90954	0.7156	M	0.84948	2.725	0.48395	D	0.999641	D;D;D;P	0.69078	0.996;0.997;0.966;0.894	P;D;P;P	0.71656	0.878;0.974;0.655;0.624	D	0.91403	0.5145	10	0.62326	D	0.03	.	19.7969	0.96490	0.0:1.0:0.0:0.0	.	1197;122;1157;1149	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	N	122;76;175;1197;1157;1149;1157;1198;1149;1157	ENSP00000341184:S122N;ENSP00000385580:S175N;ENSP00000385142:S1197N;ENSP00000384311:S1157N;ENSP00000434015:S1149N;ENSP00000385017:S1157N;ENSP00000385434:S1149N;ENSP00000385681:S1157N	ENSP00000341184:S122N	S	-	2	0	NRXN1	50317507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.868000	0.69605	2.679000	0.91253	0.650000	0.86243	AGC		0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			17	47	0	0	0	0.007413	0	17	47				
TRPM3	80036	broad.mit.edu	37	9	73152085	73152085	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:73152085C>T	ENST00000377111.2	-	25	4151	c.3908G>A	c.(3907-3909)aGc>aAc	p.S1303N	TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000377110.3_Missense_Mutation_p.S1303N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1328					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCCTTCCTGGCTGTTGAAGCT	0.572																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3907-3909)aGc>aAc		transient receptor potential cation channel, subfamily M, member 3							137.0	126.0	129.0					9																	73152085		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73152085C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3908G>A	9.37:g.73152085C>T	ENSP00000366315:p.Ser1303Asn					TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N|TRPM3_ENST00000377111.2_Missense_Mutation_p.S1303N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N	p.S1303N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4151	-			1328					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3908G>A		.	.	.	.	.	.	.	.	.	.	C	18.51	3.639643	0.67244	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.63580	0.22;0.08;-0.01;-0.03;-0.05;0.05;-0.05;-0.02;-0.01;-0.03;0.08	6.17	6.17	0.99709	.	0.040432	0.85682	N	0.000000	T	0.78855	0.4349	M	0.75447	2.3	0.58432	D	0.999991	D;P;D;D;P;P;P;P	0.63046	0.967;0.893;0.984;0.992;0.893;0.956;0.894;0.948	P;B;D;P;B;P;P;P	0.63793	0.765;0.44;0.918;0.811;0.445;0.72;0.583;0.576	T	0.73591	-0.3934	10	0.32370	T	0.25	-25.8318	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1303;1303;1293;1307;1165;1162;1275;1162	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	N	1303;1303;1175;1165;1162;1307;1162;1162;1175;1165;1330	ENSP00000366315:S1303N;ENSP00000366314:S1303N;ENSP00000366310:S1175N;ENSP00000354066:S1165N;ENSP00000366309:S1162N;ENSP00000350140:S1307N;ENSP00000386127:S1162N;ENSP00000379581:S1162N;ENSP00000379587:S1175N;ENSP00000350791:S1165N;ENSP00000389542:S1330N	ENSP00000350140:S1307N	S	-	2	0	TRPM3	72341905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	AGC		0.572	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		14	167	0	0	0	0.020292	0	14	167				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	70	0	0	0	0.014758	0	4	70				
SESN3	143686	broad.mit.edu	37	11	94910979	94910979	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:94910979T>C	ENST00000536441.1	-	8	1487	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	SESN3_ENST00000278499.2_Missense_Mutation_p.N245S|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	384					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATATGTGAGATTGTAGACCAT	0.403																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(1150-1152)aAt>aGt		sestrin 3							123.0	110.0	115.0					11																	94910979		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94910979T>C	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1151A>G	11.37:g.94910979T>C	ENSP00000441927:p.Asn384Ser					SESN3_ENST00000278499.2_Missense_Mutation_p.N245S|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	p.N384S	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	8	1487	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	384					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.1151A>G	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.252436	0.39797	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.22743	1.94;1.94	5.44	-1.11	0.09840	.	0.236464	0.41396	N	0.000897	T	0.18299	0.0439	L	0.56396	1.775	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.008	T	0.06734	-1.0810	10	0.34782	T	0.22	-0.2704	9.8868	0.41266	0.0:0.3737:0.0:0.6263	.	245;384	B7Z7P9;P58005	.;SESN3_HUMAN	S	384;245	ENSP00000441927:N384S;ENSP00000278499:N245S	ENSP00000278499:N245S	N	-	2	0	SESN3	94550627	1.000000	0.71417	0.959000	0.39883	0.970000	0.65996	1.207000	0.32333	-0.466000	0.06943	-0.250000	0.11733	AAT		0.403	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		4	64	0	0	0	0.009096	0	4	64				
CSMD2	114784	broad.mit.edu	37	1	34102147	34102147	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:34102147C>T	ENST00000373380.1	-	9	1621	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.P1594P			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1554	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1554P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGACTCCCGCGGGTTTTCTG	0.562																																						ENST00000373381.4																			1	Substitution - coding silent(1)	p.P1554P(1)	large_intestine(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(4780-4782)ccG>ccA		CUB and Sushi multiple domains 2							46.0	43.0	44.0					1																	34102147		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34102147C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1401G>A	1.37:g.34102147C>T						CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P467P	p.P1594P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			30	4958	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1554			Sushi 9.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.4782G>A																																																																																					0.562	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		18	33	0	0	0	0.004990	0	18	33				
DIAPH3	81624	broad.mit.edu	37	13	60565296	60565296	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:60565296T>C	ENST00000400324.4	-	12	1577	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	453	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTACCTTATAAAATAATCA	0.294																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1357-1359)Ata>Gta		diaphanous-related formin 3							55.0	53.0	54.0					13																	60565296		1794	4050	5844	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60565296T>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1357A>G	13.37:g.60565296T>C	ENSP00000383178:p.Ile453Val					DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V	p.I453V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	12	1577	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	453			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1357A>G	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	8.316	0.823275	0.16678	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.63	4.45	0.53987	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.159823	0.56097	N	0.000034	T	0.81153	0.4763	L	0.28054	0.825	0.80722	D	1	B;B;P	0.45348	0.077;0.354;0.856	B;B;P	0.60949	0.051;0.138;0.881	T	0.74867	-0.3518	10	0.14656	T	0.56	.	8.5542	0.33471	0.0:0.1481:0.0:0.8519	.	190;190;453	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	V	453;453;442;407;383;442;383;407;453;190;453	ENSP00000383178:I453V;ENSP00000383184:I453V;ENSP00000367141:I442V;ENSP00000383173:I383V;ENSP00000383174:I407V;ENSP00000267215:I453V	ENSP00000267214:I190V	I	-	1	0	DIAPH3	59463297	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.243000	0.43115	0.960000	0.38005	0.533000	0.62120	ATA		0.294	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		10	28	0	0	0	0.006214	0	10	28				
C3orf38	285237	broad.mit.edu	37	3	88205229	88205229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:88205229T>C	ENST00000318887.3	+	3	744	c.434T>C	c.(433-435)tTc>tCc	p.F145S	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	145					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGAGAAGAATTCTGTCATTGG	0.368																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(433-435)tTc>tCc		chromosome 3 open reading frame 38							70.0	69.0	69.0					3																	88205229		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88205229T>C	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.434T>C	3.37:g.88205229T>C	ENSP00000322469:p.Phe145Ser					C3orf38_ENST00000486971.1_Intron	p.F145S	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	744	+		Lung NSC(201;0.17)	145					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.434T>C	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640801	0.87859	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.82118	-0.0615	9	0.87932	D	0	-15.5289	15.3694	0.74551	0.0:0.0:0.0:1.0	.	145	Q5JPI3	CC038_HUMAN	S	145	.	ENSP00000322469:F145S	F	+	2	0	C3orf38	88287919	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.348000	0.79366	2.215000	0.71742	0.460000	0.39030	TTC		0.368	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		17	24	0	0	0	0.004990	0	17	24				
KCNQ2	3785	broad.mit.edu	37	20	62038263	62038263	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:62038263C>T	ENST00000359125.2	-	17	2527	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.D793N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D754N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	785					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ATGGACGTGTCGCTGTCCCGC	0.672																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(2377-2379)Gac>Aac		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						47.0	31.0	36.0					20																	62038263		2192	4298	6490	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038263C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2353G>A	20.37:g.62038263C>T	ENSP00000352035:p.Asp785Asn					KCNQ2_ENST00000359125.2_Missense_Mutation_p.D785N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D755N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D781N	p.D793N			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2553	-	all_cancers(38;1.24e-11)		785					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.2377G>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595522	0.96602	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	L	0.52573	1.65	0.54753	D	0.99998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.75274	-0.3375	10	0.72032	D	0.01	-0.678	18.1678	0.89734	0.0:1.0:0.0:0.0	.	757;767;754;785	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	N	767;785;755;793;785;754;757;781;793	ENSP00000349789:D767N;ENSP00000352035:D785N;ENSP00000359246:D755N;ENSP00000346601:D793N;ENSP00000352718:D785N;ENSP00000399612:D754N;ENSP00000353668:D757N;ENSP00000339611:D781N;ENSP00000359244:D793N	ENSP00000339611:D781N	D	-	1	0	KCNQ2	61508707	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.693000	0.68264	2.305000	0.77605	0.491000	0.48974	GAC		0.672	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		10	23	0	0	0	0.006214	0	10	23				
HSPG2	3339	broad.mit.edu	37	1	22159980	22159980	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:22159980A>G	ENST00000374695.3	-	79	11037	c.10958T>C	c.(10957-10959)tTt>tCt	p.F3653S	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3653	Ig-like C2-type 22.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGGTGGGCAAAGGCTTTGAC	0.617																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10957-10959)tTt>tCt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						72.0	59.0	63.0					1																	22159980		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22159980A>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10958T>C	1.37:g.22159980A>G	ENSP00000363827:p.Phe3653Ser						p.F3653S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	79	11037	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3653			Ig-like C2-type 22.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10958T>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896380	0.72639	.	.	ENSG00000142798	ENST00000374695	T	0.63580	-0.05	4.0	4.0	0.46444	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39407	N	0.001366	T	0.44871	0.1314	N	0.00569	-1.365	0.41228	D	0.986557	B;D	0.76494	0.24;0.999	B;D	0.87578	0.309;0.998	T	0.53012	-0.8498	10	0.12430	T	0.62	.	12.1634	0.54117	1.0:0.0:0.0:0.0	.	1593;3653	Q59EG0;P98160	.;PGBM_HUMAN	S	3653	ENSP00000363827:F3653S	ENSP00000363827:F3653S	F	-	2	0	HSPG2	22032567	1.000000	0.71417	0.987000	0.45799	0.920000	0.55202	5.205000	0.65186	1.805000	0.52779	0.260000	0.18958	TTT		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	72	0	0	0	0.001984	0	6	72				
A4GALT	53947	broad.mit.edu	37	22	43088924	43088924	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:43088924G>A	ENST00000401850.1	-	2	1523	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000381278.3_Missense_Mutation_p.T345M|A4GALT_ENST00000249005.2_Missense_Mutation_p.T345M			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	345					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGCCTCGTGCGTCGTGGGGCA	0.652																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(1033-1035)aCg>aTg		alpha 1,4-galactosyltransferase							50.0	50.0	50.0					22																	43088924		2203	4299	6502	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43088924G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.1034C>T	22.37:g.43088924G>A	ENSP00000384794:p.Thr345Met					A4GALT_ENST00000249005.2_Missense_Mutation_p.T345M|A4GALT_ENST00000381278.3_Missense_Mutation_p.T345M	p.T345M			Q9NPC4	A4GAT_HUMAN			2	1523	-			345					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.1034C>T	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629512	0.46944	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278	T;T;T	0.80304	-1.36;-1.36;-1.36	5.42	5.42	0.78866	Alpha 1,4-glycosyltransferase domain (1);	.	.	.	.	D	0.90356	0.6982	M	0.80616	2.505	0.34245	D	0.678122	D	0.89917	1.0	D	0.77557	0.99	D	0.93683	0.7000	9	0.72032	D	0.01	-22.0517	18.8174	0.92081	0.0:0.0:1.0:0.0	.	345	Q9NPC4	A4GAT_HUMAN	M	345	ENSP00000384794:T345M;ENSP00000249005:T345M;ENSP00000370678:T345M	ENSP00000249005:T345M	T	-	2	0	A4GALT	41418868	1.000000	0.71417	0.357000	0.25798	0.062000	0.15995	5.345000	0.65987	2.552000	0.86080	0.655000	0.94253	ACG		0.652	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		17	69	0	0	0	0.010504	0	17	69				
TCP11	6954	broad.mit.edu	37	6	35088704	35088704	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:35088704G>A	ENST00000512012.1	-	5	853	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F	TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000311875.5_Missense_Mutation_p.L246F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	233					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTATTGAGGAGTTCCTGGAAT	0.448																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(736-738)Ctc>Ttc		t-complex 11, testis-specific							309.0	320.0	316.0					6																	35088704		2203	4300	6503	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088704G>A		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.697C>T	6.37:g.35088704G>A	ENSP00000425995:p.Leu233Phe					TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000512012.1_Missense_Mutation_p.L233F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F	p.L246F			Q8WWU5	TCP11_HUMAN			6	1153	-			233					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.736C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.48|14.48	2.546806|2.546806	0.45383|0.45383	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638|ENST00000502480	T;T;T;T;T;T;T;T;T|.	0.12774|.	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65|.	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	1.113020|.	0.06784|.	N|.	0.785838|.	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.25957|0.25957	0.775|0.775	0.09310|0.09310	N|N	1|1	D;D;D;D;D;B|.	0.67145|.	0.989;0.989;0.989;0.996;0.989;0.065|.	D;D;D;D;D;B|.	0.73380|.	0.954;0.954;0.966;0.98;0.966;0.053|.	T|T	0.09271|0.09271	-1.0682|-1.0682	10|5	0.09590|.	T|.	0.72|.	-14.2322|-14.2322	7.0425|7.0425	0.25029|0.25029	0.0903:0.0:0.7364:0.1732|0.0903:0.0:0.7364:0.1732	.|.	200;195;241;306;233;171|.	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2|.	.;.;.;.;TCP11_HUMAN;.|.	F|I	171;195;171;195;246;241;200;170;233;92|40	ENSP00000363091:L171F;ENSP00000402816:L195F;ENSP00000244645:L171F;ENSP00000308708:L246F;ENSP00000404479:L241F;ENSP00000363085:L200F;ENSP00000415320:L170F;ENSP00000425995:L233F;ENSP00000421103:L92F|.	ENSP00000244645:L171F|.	L|T	-|-	1|2	0|0	TCP11|TCP11	35196682|35196682	0.316000|0.316000	0.24580|0.24580	0.195000|0.195000	0.23364|0.23364	0.293000|0.293000	0.27360|0.27360	1.372000|1.372000	0.34261|0.34261	2.401000|2.401000	0.81631|0.81631	0.563000|0.563000	0.77884|0.77884	CTC|ACT		0.448	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		12	582	0	0	0	0.016723	0	12	582				
PARP9	83666	broad.mit.edu	37	3	122259686	122259686	+	Silent	SNP	G	G	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:122259686G>C	ENST00000360356.2	-	8	1730	c.1503C>G	c.(1501-1503)acC>acG	p.T501T	PARP9_ENST00000492382.1_Silent_p.T46T|PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000462315.1_Silent_p.T466T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	501					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTCCTCTCTGGTTGACTGGG	0.448																																						ENST00000462315.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(1396-1398)acC>acG		poly (ADP-ribose) polymerase family, member 9							95.0	98.0	97.0					3																	122259686		2203	4300	6503	SO:0001819	synonymous_variant	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259686G>C	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1503C>G	3.37:g.122259686G>C						PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000360356.2_Silent_p.T501T|PARP9_ENST00000492382.1_Silent_p.T46T	p.T466T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	1691	-			501			Macro 2.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	c.1398C>G	CCDS3014.1																																																																																				0.448	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		17	161	0	0	0	0.012319	0	17	161				
LARP4B	23185	broad.mit.edu	37	10	888969	888969	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:888969C>A	ENST00000316157.3	-	6	589	c.549G>T	c.(547-549)atG>atT	p.M183I		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	183	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTCACTATCCATCTGTGATA	0.403																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(547-549)atG>atT		La ribonucleoprotein domain family, member 4B							144.0	130.0	135.0					10																	888969		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:888969C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.549G>T	10.37:g.888969C>A	ENSP00000326128:p.Met183Ile						p.M183I	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			6	589	-			183			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.549G>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904436	0.92035	.	.	ENSG00000107929	ENST00000316157	T	0.43294	0.95	5.37	5.37	0.77165	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.035422	0.85682	D	0.000000	T	0.60907	0.2305	M	0.69823	2.125	0.80722	D	1	P	0.51791	0.948	P	0.56278	0.795	T	0.63111	-0.6710	10	0.56958	D	0.05	-19.8453	19.1173	0.93346	0.0:1.0:0.0:0.0	.	183	Q92615	LAR4B_HUMAN	I	183	ENSP00000326128:M183I	ENSP00000326128:M183I	M	-	3	0	LARP4B	878969	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.711000	0.84669	2.521000	0.84997	0.467000	0.42956	ATG		0.403	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		9	30	1	0	0.00448238	0.004482	0.00639486	9	30				
CDHR1	92211	broad.mit.edu	37	10	85972941	85972941	+	Missense_Mutation	SNP	C	C	T	rs34744664|rs143024855		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:85972941C>T	ENST00000372117.3	+	16	1980	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	CDHR1_ENST00000440770.2_Missense_Mutation_p.T330M|CDHR1_ENST00000332904.3_Missense_Mutation_p.T626M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AATTCCCACACGGGGGAGATC	0.572																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1876-1878)aCg>aTg		cadherin-related family member 1							117.0	105.0	109.0					10																	85972941		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972941C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1877C>T	10.37:g.85972941C>T	ENSP00000361189:p.Thr626Met					CDHR1_ENST00000440770.2_Missense_Mutation_p.T330M|CDHR1_ENST00000332904.3_Missense_Mutation_p.T626M	p.T626M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			16	1980	+			626			Cadherin 6.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1877C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570809	0.86542	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.58060	0.36;0.36;0.36	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.994	D	0.84029	0.0358	10	0.87932	D	0	-19.5121	17.8347	0.88692	0.0:1.0:0.0:0.0	.	330;626;626	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	M	626;626;330	ENSP00000331063:T626M;ENSP00000361189:T626M;ENSP00000415980:T330M	ENSP00000331063:T626M	T	+	2	0	CDHR1	85962921	1.000000	0.71417	0.944000	0.38274	0.650000	0.38633	7.372000	0.79612	2.814000	0.96858	0.655000	0.94253	ACG		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		10	99	0	0	0	0.006214	0	10	99				
FBN1	2200	broad.mit.edu	37	15	48707834	48707834	+	Silent	SNP	A	A	G	rs143055643	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:48707834A>G	ENST00000316623.5	-	64	8405	c.7950T>C	c.(7948-7950)aaT>aaC	p.N2650N	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2650	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCACATTCATTGATGTCTT	0.582													A|||	5	0.000998403	0.0023	0.0014	5008	,	,		17224	0.001		0.0	False		,,,				2504	0.0					ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7948-7950)aaT>aaC		fibrillin 1		A		12,4384	19.1+/-41.9	0,12,2186	113.0	99.0	104.0		7950	-9.3	0.5	15	dbSNP_134	104	0,8592		0,0,4296	no	coding-synonymous	FBN1	NM_000138.4		0,12,6482	GG,GA,AA		0.0,0.273,0.0924		2650/2872	48707834	12,12976	2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48707834A>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7950T>C	15.37:g.48707834A>G						FBN1_ENST00000561429.1_5'UTR	p.N2650N	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	64	8405	-		all_lung(180;0.00279)	2650			EGF-like 47; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.7950T>C	CCDS32232.1																																																																																				0.582	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			47	110	0	0	0	0.014410	0	47	110				
LRRC56	115399	broad.mit.edu	37	11	551945	551945	+	Missense_Mutation	SNP	G	G	A	rs558302518		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:551945G>A	ENST00000270115.7	+	11	1516	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	339										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGGCCTGCGGGAGCGTAGG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16436	0.0		0.0	False		,,,				2504	0.001					ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(1015-1017)cGg>cAg		leucine rich repeat containing 56							35.0	41.0	39.0					11																	551945		2200	4298	6498	SO:0001583	missense	115399							g.chr11:551945G>A		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1016G>A	11.37:g.551945G>A	ENSP00000270115:p.Arg339Gln						p.R339Q	NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1516	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	339					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.1016G>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359698	0.41801	.	.	ENSG00000161328	ENST00000270115	T	0.09630	2.96	4.26	2.2	0.27929	.	0.435095	0.19257	N	0.118771	T	0.05410	0.0143	L	0.29908	0.895	0.09310	N	1	P	0.40834	0.73	B	0.22601	0.04	T	0.36672	-0.9738	10	0.46703	T	0.11	-31.2462	7.6293	0.28230	0.2355:0.0:0.7645:0.0	.	339	Q8IYG6	LRC56_HUMAN	Q	339	ENSP00000270115:R339Q	ENSP00000270115:R339Q	R	+	2	0	LRRC56	541945	0.378000	0.25114	0.053000	0.19242	0.950000	0.60333	0.997000	0.29731	1.028000	0.39785	0.561000	0.74099	CGG		0.687	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		5	35	0	0	0	0.014758	0	5	35				
KCNQ1	3784	broad.mit.edu	37	11	2549250	2549250	+	Splice_Site	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:2549250T>C	ENST00000155840.5	+	2	585		c.e2+2		KCNQ1_ENST00000335475.5_Splice_Site	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTCTGGATGGTACGTAGCATC	0.617																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.e2+2		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						177.0	131.0	147.0					11																	2549250		2202	4299	6501	SO:0001630	splice_region_variant	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2549250T>C	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.477+2T>C	11.37:g.2549250T>C						KCNQ1_ENST00000335475.5_Splice_Site		NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	2	585	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)						O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Splice_Site	SNP	ENST00000155840.5	37		CCDS7736.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209316	0.39003	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	.	.	.	4.46	3.32	0.38043	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1327	0.20215	0.0:0.1144:0.0:0.8856	.	.	.	.	.	-1	.	.	.	+	.	.	KCNQ1	2505826	1.000000	0.71417	0.959000	0.39883	0.466000	0.32739	3.799000	0.55529	1.803000	0.52742	0.459000	0.35465	.		0.617	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218	Intron	30	77	0	0	0	0.013726	0	30	77				
KIF17	57576	broad.mit.edu	37	1	20991143	20991143	+	Silent	SNP	G	G	A	rs115825348		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:20991143G>A	ENST00000247986.2	-	15	3334	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	KIF17_ENST00000400463.3_Silent_p.L1007L|KIF17_ENST00000375044.1_Silent_p.L908L|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	1008					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAGGGATGTCGAGGGACTCGA	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11820	0.0		0.0	False		,,,				2504	0.0					ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(3022-3024)ctC>ctT		kinesin family member 17							94.0	98.0	97.0					1																	20991143		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:20991143G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.3024C>T	1.37:g.20991143G>A						KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.L908L|KIF17_ENST00000400463.3_Silent_p.L1007L	p.L1008L			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	15	3334	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	1008					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.3024C>T	CCDS213.1																																																																																				0.602	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		11	135	0	0	0	0.008291	0	11	135				
RBM22	55696	broad.mit.edu	37	5	150073641	150073641	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:150073641C>T	ENST00000199814.4	-	8	1029	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RBM22_ENST00000447771.2_Missense_Mutation_p.G254E|RBM22_ENST00000540000.1_Missense_Mutation_p.G254E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	303	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCACCTTCCCCATTTCAC	0.388																																						ENST00000199814.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(907-909)gGa>gAa		RNA binding motif protein 22							94.0	94.0	94.0					5																	150073641		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150073641C>T	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.908G>A	5.37:g.150073641C>T	ENSP00000199814:p.Gly303Glu					RBM22_ENST00000540000.1_Missense_Mutation_p.G254E|RBM22_ENST00000447771.2_Missense_Mutation_p.G254E	p.G303E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1029	-		Medulloblastoma(196;0.167)	303			RRM.		A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.908G>A	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058430	0.93846	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	T;T;T	0.36157	1.27;1.27;1.27	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.149392	0.64402	D	0.000011	T	0.65943	0.2740	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.69483	-0.5133	10	0.87932	D	0	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	303	Q9NW64	RBM22_HUMAN	E	303;254;254	ENSP00000199814:G303E;ENSP00000441594:G254E;ENSP00000412118:G254E	ENSP00000199814:G303E	G	-	2	0	RBM22	150053834	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.729000	0.84864	2.713000	0.92767	0.655000	0.94253	GGA		0.388	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047		11	71	0	0	0	0.010729	0	11	71				
HMCN1	83872	broad.mit.edu	37	1	185987441	185987441	+	Silent	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:185987441T>C	ENST00000271588.4	+	34	5656	c.5427T>C	c.(5425-5427)aaT>aaC	p.N1809N	HMCN1_ENST00000367492.2_Silent_p.N1809N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1809	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCAGCAAATACTGCTGGAG	0.393																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(5425-5427)aaT>aaC		hemicentin 1							140.0	141.0	141.0					1																	185987441		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185987441T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5427T>C	1.37:g.185987441T>C						HMCN1_ENST00000367492.2_Silent_p.N1809N	p.N1809N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			34	5656	+			1809			Ig-like C2-type 15.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.5427T>C	CCDS30956.1																																																																																				0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		32	92	0	0	0	0.015359	0	32	92				
WDR4	10785	broad.mit.edu	37	21	44283564	44283564	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:44283564T>C	ENST00000398208.2	-	4	498	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.M147V	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TCTAACAGCATAGACAGGTGC	0.612																																						ENST00000398208.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11						c.(439-441)Atg>Gtg		WD repeat domain 4							150.0	123.0	132.0					21																	44283564		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44283564T>C	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.439A>G	21.37:g.44283564T>C	ENSP00000381266:p.Met147Val					WDR4_ENST00000330317.2_Missense_Mutation_p.M147V|WDR4_ENST00000492742.1_5'UTR	p.M147V	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	4	498	-			147						Missense_Mutation	SNP	ENST00000398208.2	37	c.439A>G	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141816	0.37825	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.28069	1.63;1.63	4.55	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053328	0.64402	D	0.000001	T	0.41488	0.1161	M	0.79343	2.45	0.41894	D	0.990383	B;B	0.34147	0.167;0.438	B;P	0.46339	0.169;0.513	T	0.28490	-1.0042	10	0.17369	T	0.5	-23.7953	8.4014	0.32588	0.0:0.0:0.1983:0.8017	.	147;147	P57081-2;P57081	.;WDR4_HUMAN	V	147	ENSP00000328671:M147V;ENSP00000381266:M147V	ENSP00000328671:M147V	M	-	1	0	WDR4	43156633	0.998000	0.40836	0.977000	0.42913	0.356000	0.29392	2.919000	0.48836	1.719000	0.51432	0.374000	0.22700	ATG		0.612	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			22	59	0	0	0	0.018920	0	22	59				
SYNRG	11276	broad.mit.edu	37	17	35945534	35945534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:35945534G>A	ENST00000339208.6	-	5	516	c.376C>T	c.(376-378)Cga>Tga	p.R126*	SYNRG_ENST00000394378.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000345615.4_Nonsense_Mutation_p.R126*|SYNRG_ENST00000591288.1_Nonsense_Mutation_p.R126*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.R126*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.R125*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.R126*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	126					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTTCAAATCGTTTCCTGAAG	0.373																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(376-378)Cga>Tga		synergin, gamma							102.0	106.0	105.0					17																	35945534		2202	4300	6502	SO:0001587	stop_gained	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35945534G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.376C>T	17.37:g.35945534G>A	ENSP00000343610:p.Arg126*					SYNRG_ENST00000591288.1_Nonsense_Mutation_p.R126*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.R125*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.R126*|SYNRG_ENST00000394378.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000345615.4_Nonsense_Mutation_p.R126*	p.R126*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			5	516	-			126					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Nonsense_Mutation	SNP	ENST00000339208.6	37	c.376C>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	G	37	6.506632	0.97620	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0377	14.196	0.65672	0.0:0.0:0.7518:0.2481	.	.	.	.	X	126	.	ENSP00000343610:R126X	R	-	1	2	SYNRG	33019647	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.170000	0.64990	2.814000	0.96858	0.591000	0.81541	CGA		0.373	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		14	103	0	0	0	0.004990	0	14	103				
PNPLA1	285848	broad.mit.edu	37	6	36270248	36270248	+	Splice_Site	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:36270248T>C	ENST00000394571.2	+	6	1384		c.e6+2		PNPLA1_ENST00000388715.3_Splice_Site|PNPLA1_ENST00000312917.5_Splice_Site	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCCCAAGGTATGGACCCTT	0.567											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.e6+2		patatin-like phospholipase domain containing 1							99.0	104.0	103.0					6																	36270248		2203	4300	6503	SO:0001630	splice_region_variant	285848				lipid catabolic process		hydrolase activity	g.chr6:36270248T>C		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1384+2T>C	6.37:g.36270248T>C			OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_ENST00000312917.5_Splice_Site|PNPLA1_ENST00000388715.3_Splice_Site		NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			6	1384	+								A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Splice_Site	SNP	ENST00000394571.2	37		CCDS54997.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047855	0.55110	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.158	0.42833	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNPLA1	36378226	1.000000	0.71417	0.794000	0.32065	0.262000	0.26303	3.315000	0.51951	1.960000	0.56953	0.529000	0.55759	.		0.567	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676	Intron	50	137	0	0	0	0.014410	0	50	137				
VWF	7450	broad.mit.edu	37	12	6101119	6101119	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:6101119C>T	ENST00000261405.5	-	38	6918	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2222	E2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCACGTTGCCATCACAGTGC	0.567																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(6664-6666)Ggc>Agc		von Willebrand factor	Antihemophilic Factor(DB00025)						110.0	86.0	94.0					12																	6101119		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6101119C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6664G>A	12.37:g.6101119C>T	ENSP00000261405:p.Gly2222Ser						p.G2222S	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			38	6918	-			2222			E2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6664G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	c	15.41	2.825807	0.50739	.	.	ENSG00000110799	ENST00000261405	D	0.90197	-2.63	5.64	5.64	0.86602	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.152222	0.30879	N	0.008692	D	0.82879	0.5133	N	0.25992	0.78	0.51767	D	0.999931	P	0.43788	0.817	P	0.44673	0.457	T	0.79757	-0.1669	10	0.06099	T	0.92	.	8.2694	0.31836	0.0:0.8326:0.0:0.1674	.	2222	P04275	VWF_HUMAN	S	2222	ENSP00000261405:G2222S	ENSP00000261405:G2222S	G	-	1	0	VWF	5971380	0.681000	0.27614	0.945000	0.38365	0.678000	0.39670	1.325000	0.33724	2.639000	0.89480	0.643000	0.83706	GGC		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		12	44	0	0	0	0.010729	0	12	44				
TGFBR1	7046	broad.mit.edu	37	9	101904860	101904860	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:101904860A>G	ENST00000374994.4	+	5	965	c.848A>G	c.(847-849)cAt>cGt	p.H283R	TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R|TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGATTATCATGAGCATGGA	0.413																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(847-849)cAt>cGt		transforming growth factor, beta receptor 1							203.0	174.0	184.0					9																	101904860		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101904860A>G		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.848A>G	9.37:g.101904860A>G	ENSP00000364133:p.His283Arg					TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R|TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R	p.H283R	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			5	965	+		Acute lymphoblastic leukemia(62;0.0559)	283			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.848A>G	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.649782	0.87958	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.939;0.999	D	0.97808	1.0249	10	0.87932	D	0	.	15.5573	0.76208	1.0:0.0:0.0:0.0	.	206;283	P36897-3;P36897	.;TGFR1_HUMAN	R	283;283;206;287;214	ENSP00000364133:H283R;ENSP00000364129:H206R;ENSP00000447297:H287R;ENSP00000450052:H214R	ENSP00000364129:H206R	H	+	2	0	TGFBR1	100944681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.232000	0.95325	2.371000	0.80710	0.533000	0.62120	CAT		0.413	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			16	122	0	0	0	0.004990	0	16	122				
MZT1	440145	broad.mit.edu	37	13	73293092	73293092	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:73293092T>G	ENST00000377818.3	-	2	307	c.223A>C	c.(223-225)Aag>Cag	p.K75Q		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	75					gamma-tubulin complex localization (GO:0033566)	centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTCCAACCTTCAGTGCTTCA	0.358																																						ENST00000377818.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(223-225)Aag>Cag		mitotic spindle organizing protein 1							102.0	107.0	106.0					13																	73293092		2203	4300	6503	SO:0001583	missense	440145				gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr13:73293092T>G		CCDS31990.1	13q22.1	2013-08-13	2010-07-22	2010-07-22	ENSG00000204899	ENSG00000204899			33830	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1"""	613448	"""chromosome 13 open reading frame 37"""	C13orf37		20360068	Standard	NM_001071775		Approved	LOC440145, FLJ21869, MGC150539, RP11-11C5.2, MOZART1	uc001viu.2	Q08AG7	OTTHUMG00000017069	ENST00000377818.3:c.223A>C	13.37:g.73293092T>G	ENSP00000367049:p.Lys75Gln						p.K75Q	NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN			2	307	-			75					Q5W0P5	Missense_Mutation	SNP	ENST00000377818.3	37	c.223A>C	CCDS31990.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.574908	0.86542	.	.	ENSG00000204899	ENST00000377818	T	0.48522	0.81	5.7	5.7	0.88788	.	0.053109	0.64402	D	0.000001	T	0.41766	0.1173	.	.	.	0.58432	D	0.999996	P	0.37781	0.608	B	0.35550	0.205	T	0.30416	-0.9979	9	0.36615	T	0.2	-23.0001	15.9666	0.79979	0.0:0.0:0.0:1.0	.	75	Q08AG7	MZT1_HUMAN	Q	75	ENSP00000367049:K75Q	ENSP00000367049:K75Q	K	-	1	0	MZT1	72191093	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	7.503000	0.81632	2.174000	0.68829	0.482000	0.46254	AAG		0.358	MZT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045249.1	NM_001071775		13	170	0	0	0	0.020292	0	13	170				
KIF21A	55605	broad.mit.edu	37	12	39727024	39727024	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:39727024T>C	ENST00000361418.5	-	18	2492	c.2477A>G	c.(2476-2478)aAa>aGa	p.K826R	KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000395670.3_Missense_Mutation_p.K826R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	826				K -> Q (in Ref. 3; AAP97680). {ECO:0000305}.	ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTCAGTTTTGCGACGTAG	0.343																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(2476-2478)aAa>aGa		kinesin family member 21A							244.0	242.0	242.0					12																	39727024		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39727024T>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2477A>G	12.37:g.39727024T>C	ENSP00000354878:p.Lys826Arg					KIF21A_ENST00000361418.5_Missense_Mutation_p.K826R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R	p.K826R			Q7Z4S6	KI21A_HUMAN			18	2896	-		Lung NSC(34;0.179)|all_lung(34;0.213)	826	K -> Q (in Ref. 2; AAP97680).				A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2477A>G	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.88|16.88	3.244977|3.244977	0.59103|0.59103	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418	T|T;T;T;T	0.19250|0.20738	2.16|2.05;2.05;2.05;2.05	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000053|0.000053	T|T	0.40645|0.40645	0.1125|0.1125	M|M	0.80616|0.80616	2.505|2.505	0.54753|0.54753	D|D	0.999988|0.999988	.|B;P;P;P	.|0.51057	.|0.001;0.905;0.675;0.941	.|B;P;B;P	.|0.52109	.|0.003;0.69;0.218;0.631	T|T	0.38929|0.38929	-0.9638|-0.9638	8|10	0.87932|0.51188	D|T	0|0.08	.|.	15.3885|15.3885	0.74723|0.74723	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|813;826;813;826	.|F5H219;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.|.;KI21A_HUMAN;.;.	E|R	174|813;826;826;813;826	ENSP00000447765:K174E|ENSP00000354851:K813R;ENSP00000379029:K826R;ENSP00000445606:K813R;ENSP00000354878:K826R	ENSP00000449698:K84E|ENSP00000344501:K826R	K|K	-|-	1|2	0|0	KIF21A|KIF21A	38013291|38013291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.960000|2.960000	0.49161|0.49161	2.047000|2.047000	0.60756|0.60756	0.455000|0.455000	0.32223|0.32223	AAA|AAA		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		74	177	0	0	0	0.014410	0	74	177				
RPA1	6117	broad.mit.edu	37	17	1787221	1787221	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:1787221C>G	ENST00000254719.5	+	13	1467	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	453					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATCCGAGAACCTGGGCCAAGG	0.493								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(1357-1359)Ctg>Gtg	Nucleotide excision repair (NER)	replication protein A1, 70kDa							132.0	106.0	115.0					17																	1787221		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1787221C>G	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1357C>G	17.37:g.1787221C>G	ENSP00000254719:p.Leu453Val						p.L453V	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			13	1467	+			453					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.1357C>G	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233452	0.58886	.	.	ENSG00000132383	ENST00000254719	T	0.56444	0.46	5.7	2.67	0.31697	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.73962	2.25	0.80722	D	1	P	0.38048	0.616	B	0.33339	0.162	T	0.35847	-0.9772	10	0.29301	T	0.29	-10.3456	10.0424	0.42166	0.0:0.7099:0.0:0.2901	.	453	P27694	RFA1_HUMAN	V	453	ENSP00000254719:L453V	ENSP00000254719:L453V	L	+	1	2	RPA1	1733971	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	1.764000	0.38471	0.359000	0.24239	0.655000	0.94253	CTG		0.493	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		31	66	0	0	0	0.015359	0	31	66				
LRRK2	120892	broad.mit.edu	37	12	40677930	40677930	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:40677930A>G	ENST00000298910.7	+	19	2553	c.2495A>G	c.(2494-2496)cAa>cGa	p.Q832R	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	832					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAAGGAAACAAACAAGTAAG	0.313																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2494-2496)cAa>cGa		leucine-rich repeat kinase 2							70.0	77.0	75.0					12																	40677930		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40677930A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2495A>G	12.37:g.40677930A>G	ENSP00000298910:p.Gln832Arg					LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	p.Q832R	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			19	2553	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	832					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2495A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631252	0.46944	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71817	2.23;-0.6	5.05	5.05	0.67936	.	0.310461	0.34725	N	0.003728	T	0.55878	0.1948	N	0.19112	0.55	0.35927	D	0.832217	B;B	0.20052	0.041;0.002	B;B	0.19391	0.025;0.001	T	0.58457	-0.7633	9	.	.	.	.	15.079	0.72099	1.0:0.0:0.0:0.0	.	832;832	E9PC85;Q5S007	.;LRRK2_HUMAN	R	832	ENSP00000341930:Q832R;ENSP00000298910:Q832R	.	Q	+	2	0	LRRK2	38964197	1.000000	0.71417	0.916000	0.36221	0.751000	0.42716	7.413000	0.80104	2.021000	0.59480	0.482000	0.46254	CAA		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		12	52	0	0	0	0.010729	0	12	52				
GABRB2	2561	broad.mit.edu	37	5	160886666	160886666	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:160886666C>T	ENST00000393959.1	-	4	421	c.422G>A	c.(421-423)cGc>cAc	p.R141H	GABRB2_ENST00000520240.1_Missense_Mutation_p.R141H|GABRB2_ENST00000274547.2_Missense_Mutation_p.R141H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R78H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R141H|GABRB2_ENST00000517547.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	141					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGATGCAGGCGAATCATGCG	0.443																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(421-423)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						102.0	93.0	96.0					5																	160886666		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160886666C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.422G>A	5.37:g.160886666C>T	ENSP00000377531:p.Arg141His					GABRB2_ENST00000517901.1_Missense_Mutation_p.R78H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R141H|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Missense_Mutation_p.R141H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R141H	p.R141H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	639	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	141					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.422G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354683	0.95854	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.91635	0.999;0.95;0.952;0.962	D	0.92469	0.5984	10	0.87932	D	0	.	18.6117	0.91288	0.0:1.0:0.0:0.0	.	141;78;141;141	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	141;141;141;141;78	ENSP00000377531:R141H;ENSP00000274547:R141H;ENSP00000274546:R141H;ENSP00000429320:R141H;ENSP00000430532:R78H	ENSP00000274547:R141H	R	-	2	0	GABRB2	160819244	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.684000	0.84104	2.455000	0.83008	0.655000	0.94253	CGC		0.443	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			14	59	0	0	0	0.024245	0	14	59				
PGS1	9489	broad.mit.edu	37	17	76421442	76421442	+	IGR	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:76421442C>T	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Missense_Mutation_p.G4371R|DNAH17_ENST00000389840.5_Missense_Mutation_p.G4399R|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000586052.1_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			ATGAAGAGTCCGTACACGTAG	0.532																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13195-13197)Gga>Aga		dynein, axonemal, heavy chain 17							99.0	99.0	99.0					17																	76421442		2203	4300	6503	SO:0001628	intergenic_variant	8632							g.chr17:76421442C>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76421442C>T						DNAH17_ENST00000585328.1_Missense_Mutation_p.G4371R|DNAH17_ENST00000586052.1_5'UTR	p.G4399R					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13319	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.13195G>A	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769699	0.90020	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.51071	0.72	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000022	D	0.84047	0.5386	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91988	0.5600	10	0.87932	D	0	.	18.1663	0.89729	0.0:1.0:0.0:0.0	.	4371	E7EUM8	.	R	4371;4399	ENSP00000374490:G4399R	ENSP00000300671:G4371R	G	-	1	0	DNAH17	73933037	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.488000	0.81441	2.505000	0.84491	0.591000	0.81541	GGA		0.532	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		11	134	0	0	0	0.010729	0	11	134				
IMPG1	3617	broad.mit.edu	37	6	76660411	76660411	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:76660411C>A	ENST00000369950.3	-	13	1881	c.1692G>T	c.(1690-1692)atG>atT	p.M564I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGGCAATGGTCATAGAACTAG	0.493																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1690-1692)atG>atT		interphotoreceptor matrix proteoglycan 1							84.0	76.0	79.0					6																	76660411		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660411C>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1692G>T	6.37:g.76660411C>A	ENSP00000358966:p.Met564Ile					IMPG1_ENST00000369963.3_3'UTR	p.M564I	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1881	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	564						Missense_Mutation	SNP	ENST00000369950.3	37	c.1692G>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	6.239	0.412201	0.11812	.	.	ENSG00000112706	ENST00000369950	T	0.20069	2.1	5.67	5.67	0.87782	.	0.576672	0.18376	N	0.143112	T	0.11110	0.0271	L	0.47716	1.5	0.80722	D	1	B	0.24533	0.105	B	0.20577	0.03	T	0.02868	-1.1100	10	0.33940	T	0.23	.	14.5894	0.68354	0.1459:0.8541:0.0:0.0	.	564	Q17R60	IMPG1_HUMAN	I	564	ENSP00000358966:M564I	ENSP00000358966:M564I	M	-	3	0	IMPG1	76717131	0.999000	0.42202	0.534000	0.28014	0.087000	0.18053	3.462000	0.53042	2.660000	0.90430	0.650000	0.86243	ATG		0.493	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		5	92	1	0	0.00116845	0.021553	0.00168951	5	92				
BEST3	144453	broad.mit.edu	37	12	70072612	70072612	+	Silent	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:70072612A>G	ENST00000330891.5	-	5	769	c.543T>C	c.(541-543)taT>taC	p.Y181Y	BEST3_ENST00000331471.4_Silent_p.Y181Y|BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000488961.1_Silent_p.Y19Y	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	181					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGGAACCCAATATTTCAGAT	0.358																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(541-543)taT>taC		bestrophin 3							111.0	102.0	105.0					12																	70072612		1848	4101	5949	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70072612A>G	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.543T>C	12.37:g.70072612A>G						BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000488961.1_Silent_p.Y19Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000331471.4_Silent_p.Y181Y	p.Y181Y	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		5	769	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		181					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.543T>C	CCDS8992.2																																																																																				0.358	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		6	50	0	0	0	0.001984	0	6	50				
IGHV1-18	28468	broad.mit.edu	37	14	106641580	106641580	+	RNA	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:106641580C>T	ENST00000390605.2	-	0	392									immunoglobulin heavy variable 1-18																		CAGTAATACACGGCCGTGTCG	0.542																																						ENST00000390605.2																			0																				188.0	180.0	183.0					14																	106641580		2081	4195	6276			0							g.chr14:106641580C>T	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641580C>T														0	392	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.542	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		91	69	0	0	0	0.014410	0	91	69				
CYP19A1	1588	broad.mit.edu	37	15	51507272	51507272	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:51507272A>G	ENST00000396402.1	-	8	1169	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A|CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	339					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	CTTACCAATAACAGTCTGGAT	0.323																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1015-1017)gTt>gCt		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						55.0	55.0	55.0					15																	51507272		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51507272A>G	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1016T>C	15.37:g.51507272A>G	ENSP00000379683:p.Val339Ala					CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A|CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A	p.V339A	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	8	1169	-			339					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1016T>C	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178639	0.57692	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.93	4.75	0.60458	.	0.168698	0.52532	D	0.000061	T	0.70316	0.3210	M	0.70903	2.155	0.54753	D	0.999986	B	0.15473	0.013	B	0.28305	0.088	T	0.70160	-0.4948	10	0.54805	T	0.06	-18.1418	11.3859	0.49785	0.8647:0.0:0.0:0.1353	.	339	P11511	CP19A_HUMAN	A	339	ENSP00000379683:V339A;ENSP00000260433:V339A;ENSP00000379685:V339A;ENSP00000390614:V339A	ENSP00000260433:V339A	V	-	2	0	CYP19A1	49294564	0.994000	0.37717	0.931000	0.37212	0.831000	0.47069	5.454000	0.66651	2.281000	0.76405	0.533000	0.62120	GTT		0.323	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			10	23	0	0	0	0.008291	0	10	23				
MUC16	94025	broad.mit.edu	37	19	9014619	9014619	+	Missense_Mutation	SNP	G	G	C	rs569696248		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:9014619G>C	ENST00000397910.4	-	31	38559	c.38356C>G	c.(38356-38358)Cag>Gag	p.Q12786E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12788	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTATAGCTGCTCCCTGTCC	0.567																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38356-38358)Cag>Gag		mucin 16, cell surface associated							110.0	87.0	94.0					19																	9014619		1867	4079	5946	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014619G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38356C>G	19.37:g.9014619G>C	ENSP00000381008:p.Gln12786Glu						p.Q12786E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			31	38559	-			12788	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38356C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.657	0.122077	0.08931	.	.	ENSG00000181143	ENST00000397910	T	0.37235	1.21	3.03	-5.37	0.02681	.	.	.	.	.	T	0.27731	0.0682	M	0.68952	2.095	.	.	.	B	0.16603	0.018	B	0.17722	0.019	T	0.44742	-0.9308	8	0.87932	D	0	.	0.2561	0.00212	0.2397:0.1604:0.2513:0.3485	.	12786	B5ME49	.	E	12786	ENSP00000381008:Q12786E	ENSP00000381008:Q12786E	Q	-	1	0	MUC16	8875619	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.410000	0.01040	-1.197000	0.02673	0.305000	0.20034	CAG		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	129	0	0	0	0.014410	0	49	129				
GRIP2	80852	broad.mit.edu	37	3	14536380	14536380	+	RNA	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14536380C>T	ENST00000273083.3	-	0	3005							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTGGAGGCCTCCACGGTGG	0.612																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							50.0	52.0	51.0					3																	14536380		1953	4145	6098			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14536380C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14536380C>T										Q9C0E4	GRIP2_HUMAN			0	3005	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.612	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		12	43	0	0	0	0.010729	0	12	43				
MXRA5	25878	broad.mit.edu	37	X	3228396	3228396	+	Silent	SNP	G	G	A	rs151002571	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chrX:3228396G>A	ENST00000217939.6	-	7	8002	c.7848C>T	c.(7846-7848)tgC>tgT	p.C2616C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2616	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCGGGCCACGCAGCGGTAGG	0.602																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7846-7848)tgC>tgT		matrix-remodelling associated 5		G		7,3793		0,7,1614,558	22.0	24.0	23.0		7848	3.1	1.0	X	dbSNP_134	23	0,6670		0,0,2420,1830	no	coding-synonymous	MXRA5	NM_015419.3		0,7,4034,2388	AA,AG,GG,G		0.0,0.1842,0.0669		2616/2829	3228396	7,10463	2179	4250	6429	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3228396G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7848C>T	X.37:g.3228396G>A							p.C2616C	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8002	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2616			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.7848C>T	CCDS14124.1																																																																																				0.602	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		12	13	0	0	0	0.016723	0	12	13				
DHX34	9704	broad.mit.edu	37	19	47856825	47856825	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:47856825G>A	ENST00000328771.4	+	2	887	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	180	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAGCACCAGGTGGTGGTAGT	0.662																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(538-540)Gtg>Atg		DEAH (Asp-Glu-Ala-His) box polypeptide 34							34.0	38.0	37.0					19																	47856825		2203	4299	6502	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856825G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.538G>A	19.37:g.47856825G>A	ENSP00000331907:p.Val180Met						p.V180M	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	887	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	180			Helicase ATP-binding.		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.538G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716331	0.89205	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.14893	2.47	5.26	5.26	0.73747	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.47852	D	0.000215	T	0.56366	0.1980	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70876	-0.4753	10	0.72032	D	0.01	-25.0325	17.6312	0.88108	0.0:0.0:1.0:0.0	.	180;180	Q14147;B4E3G3	DHX34_HUMAN;.	M	180	ENSP00000331907:V180M	ENSP00000257252:V180M	V	+	1	0	DHX34	52548665	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.348000	0.73009	2.461000	0.83175	0.555000	0.69702	GTG		0.662	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		13	47	0	0	0	0.013537	0	13	47				
RPA2	6118	broad.mit.edu	37	1	28240635	28240635	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:28240635C>T	ENST00000373912.3	-	2	355	c.56G>A	c.(55-57)gGc>gAc	p.G19D	RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	19	Gly/Ser-rich.				base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGTGTAGCCGCCGGCTCC	0.537								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(55-57)gGc>gAc	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							40.0	48.0	45.0					1																	28240635		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28240635C>T	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.56G>A	1.37:g.28240635C>T	ENSP00000363021:p.Gly19Asp					RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	p.G19D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	2	355	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	19			Gly/Ser-rich.		Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.56G>A	CCDS314.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126864	0.77549	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.35048	1.64;1.47;1.35;1.33	4.6	4.6	0.57074	.	0.242113	0.42964	D	0.000627	T	0.48572	0.1507	M	0.81341	2.54	0.53005	D	0.999969	B;P	0.44946	0.306;0.846	B;P	0.44811	0.182;0.461	T	0.60485	-0.7254	10	0.87932	D	0	-7.5219	16.5451	0.84443	0.0:1.0:0.0:0.0	.	19;27	P15927;P15927-2	RFA2_HUMAN;.	D	19;27;107;23	ENSP00000363021:G19D;ENSP00000363017:G27D;ENSP00000363015:G107D;ENSP00000387649:G23D	ENSP00000363015:G107D	G	-	2	0	RPA2	28113222	1.000000	0.71417	0.893000	0.35052	0.973000	0.67179	6.074000	0.71253	2.265000	0.75225	0.561000	0.74099	GGC		0.537	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		5	63	0	0	0	0.001984	0	5	63				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	95	0	0	0	0.004482	0	5	95				
DCAF4L2	138009	broad.mit.edu	37	8	88885128	88885128	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:88885128C>T	ENST00000319675.3	-	1	1168	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(1072-1074)Gcc>Acc		DDB1 and CUL4 associated factor 4-like 2							74.0	82.0	79.0					8																	88885128		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885128C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1072G>A	8.37:g.88885128C>T	ENSP00000316496:p.Ala358Thr						p.A358T	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1168	-			358						Missense_Mutation	SNP	ENST00000319675.3	37	c.1072G>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	7.180	0.589400	0.13812	.	.	ENSG00000176566	ENST00000319675	T	0.23348	1.91	1.37	0.319	0.15873	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.460361	0.24490	N	0.038063	T	0.12050	0.0293	N	0.16656	0.425	0.09310	N	1	B	0.24618	0.107	B	0.18263	0.021	T	0.22626	-1.0211	10	0.27082	T	0.32	.	6.831	0.23911	0.0:0.7048:0.2951:0.0	.	358	Q8NA75	DC4L2_HUMAN	T	358	ENSP00000316496:A358T	ENSP00000316496:A358T	A	-	1	0	DCAF4L2	88954244	0.455000	0.25736	0.001000	0.08648	0.044000	0.14063	0.395000	0.20850	-0.123000	0.11745	0.467000	0.42956	GCC		0.622	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		35	67	0	0	0	0.015359	0	35	67				
UBASH3A	53347	broad.mit.edu	37	21	43829625	43829625	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:43829625C>T	ENST00000319294.6	+	3	293	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	88					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCTGGAAAAACTTCAAGAGTT	0.537																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(262-264)Ctt>Ttt		ubiquitin associated and SH3 domain containing A							101.0	98.0	99.0					21																	43829625		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43829625C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.262C>T	21.37:g.43829625C>T	ENSP00000317327:p.Leu88Phe					UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F	p.L88F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			3	293	+			88					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.262C>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344262	0.61073	.	.	ENSG00000160185	ENST00000291535;ENST00000450356;ENST00000319294;ENST00000398367	T;T;T;T	0.59638	0.25;1.85;1.85;0.25	5.74	5.74	0.90152	.	0.000000	0.47455	D	0.000222	T	0.80385	0.4613	M	0.84948	2.725	0.51482	D	0.999925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.82536	-0.0408	10	0.87932	D	0	-18.9602	19.9694	0.97278	0.0:1.0:0.0:0.0	.	88;88;88	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	F	88	ENSP00000291535:L88F;ENSP00000407179:L88F;ENSP00000317327:L88F;ENSP00000381408:L88F	ENSP00000291535:L88F	L	+	1	0	UBASH3A	42702694	1.000000	0.71417	0.079000	0.20413	0.004000	0.04260	4.594000	0.61041	2.723000	0.93209	0.644000	0.83932	CTT		0.537	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		4	112	0	0	0	0.009096	0	4	112				
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T	rs200673320		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493																																						ENST00000427390.2																			1	Substitution - coding silent(1)	p.T136T(1)	endometrium(1)	NS(3)|endometrium(4)|kidney(1)|skin(3)	11						c.(406-408)acG>acA		golgin A6 family-like 6							31.0	8.0	19.0					15																	20743796		336	402	738	SO:0001819	synonymous_variant	727832							g.chr15:20743796C>T	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.408G>A	15.37:g.20743796C>T							p.T136T	NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN			4	498	-			136					D3YTC0	Silent	SNP	ENST00000427390.2	37	c.408G>A	CCDS45184.1																																																																																				0.493	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004		5	51	0	0	0	0.021553	0	5	51				
LMTK2	22853	broad.mit.edu	37	7	97822262	97822262	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:97822262G>A	ENST00000297293.5	+	11	2778	c.2485G>A	c.(2485-2487)Gta>Ata	p.V829I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	829					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCCCGTCGGGTACCCCCAGA	0.557																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(2485-2487)Gta>Ata		lemur tyrosine kinase 2							80.0	83.0	82.0					7																	97822262		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822262G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2485G>A	7.37:g.97822262G>A	ENSP00000297293:p.Val829Ile						p.V829I	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2778	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		829					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2485G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434753	0.25813	.	.	ENSG00000164715	ENST00000297293	T	0.77620	-1.11	5.77	0.373	0.16178	.	2.036220	0.01799	N	0.032777	T	0.66479	0.2793	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34329	-0.9833	10	0.18276	T	0.48	.	2.6546	0.05008	0.1389:0.1134:0.4133:0.3344	.	829	Q8IWU2	LMTK2_HUMAN	I	829	ENSP00000297293:V829I	ENSP00000297293:V829I	V	+	1	0	LMTK2	97660198	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.085000	0.11250	0.125000	0.18397	0.655000	0.94253	GTA		0.557	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		42	82	0	0	0	0.009718	0	42	82				
PKHD1L1	93035	broad.mit.edu	37	8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:110477192G>A	ENST00000378402.5	+	49	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2711					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAGTCGGCCATCTTGA	0.463										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(8131-8133)Ggc>Agc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							170.0	169.0	170.0					8																	110477192		1893	4115	6008	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477192G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8131G>A	8.37:g.110477192G>A	ENSP00000367655:p.Gly2711Ser	HNSCC(38;0.096)					p.G2711S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8235	+			2711					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.8131G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037834	0.75617	.	.	ENSG00000205038	ENST00000378402	D	0.93604	-3.25	5.78	5.78	0.91487	.	0.061993	0.64402	D	0.000005	D	0.95124	0.8420	M	0.73598	2.24	0.45822	D	0.998692	D	0.60575	0.988	P	0.53401	0.725	D	0.94480	0.7692	10	0.44086	T	0.13	.	17.4929	0.87709	0.0:0.0:1.0:0.0	.	2711	Q86WI1	PKHL1_HUMAN	S	2711	ENSP00000367655:G2711S	ENSP00000367655:G2711S	G	+	1	0	PKHD1L1	110546368	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	8.378000	0.90144	2.724000	0.93272	0.655000	0.94253	GGC		0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		23	169	0	0	0	0.018920	0	23	169				
APOB	338	broad.mit.edu	37	2	21233706	21233706	+	Nonsense_Mutation	SNP	G	G	A	rs147863759		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:21233706G>A	ENST00000233242.1	-	26	6161	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2012					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGAGTTCGTCCAGTAAGC	0.428																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CM962634	APOB	M	rs147863759	c.(6034-6036)Cga>Tga		apolipoprotein B	Atorvastatin(DB01076)	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	178.0	162.0	168.0		6034	1.3	0.1	2	dbSNP_134	168	0,8600		0,0,4300	no	stop-gained	APOB	NM_000384.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2012/4564	21233706	1,13005	2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233706G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6034C>T	2.37:g.21233706G>A	ENSP00000233242:p.Arg2012*						p.R2012*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6161	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2012					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.6034C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	42	9.516436	0.99193	2.27E-4	0.0	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.46	1.32	0.21799	.	0.834050	0.10100	N	0.716077	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2696	0.49131	0.0:0.3156:0.517:0.1674	.	.	.	.	X	2012	.	ENSP00000233242:R2012X	R	-	1	2	APOB	21087211	0.002000	0.14202	0.114000	0.21550	0.189000	0.23516	0.733000	0.26087	0.621000	0.30232	0.555000	0.69702	CGA		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			39	107	0	0	0	0.021022	0	39	107				
PLEC	5339	broad.mit.edu	37	8	145003714	145003714	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:145003714C>A	ENST00000322810.4	-	24	3529	c.3360G>T	c.(3358-3360)caG>caT	p.Q1120H	PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1120	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCAGCGCTGGCAGCGAG	0.682																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(3358-3360)caG>caT		plectin							30.0	38.0	35.0					8																	145003714		2146	4247	6393	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145003714C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3360G>T	8.37:g.145003714C>A	ENSP00000323856:p.Gln1120His					PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H	p.Q1120H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			24	3529	-			1120			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3360G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.596	0.110670	0.08780	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78126	-1.12;-1.11;-1.15;-1.15;-1.14;-1.12;-1.11;-1.11;-1.11	4.95	4.06	0.47325	.	0.206055	0.30269	U	0.010010	T	0.68100	0.2964	L	0.29908	0.895	0.37803	D	0.927777	B;B;B;B;B;B;B;B	0.09022	0.002;0.002;0.002;0.001;0.002;0.002;0.002;0.002	B;B;B;B;B;B;B;B	0.08055	0.003;0.003;0.003;0.001;0.003;0.003;0.003;0.003	T	0.67102	-0.5755	10	0.62326	D	0.03	.	14.2082	0.65748	0.1513:0.8487:0.0:0.0	.	1010;969;961;1120;951;983;987;983	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	983;987;983;951;1120;961;969;1010;1006	ENSP00000344848:Q983H;ENSP00000350277:Q987H;ENSP00000346602:Q983H;ENSP00000381756:Q951H;ENSP00000323856:Q1120H;ENSP00000347044:Q961H;ENSP00000348702:Q969H;ENSP00000388180:Q1010H;ENSP00000434583:Q1006H	ENSP00000323856:Q1120H	Q	-	3	2	PLEC	145075702	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	2.395000	0.44459	1.047000	0.40274	-0.573000	0.04149	CAG		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	55	1	0	6.40141e-05	0.010729	9.38289e-05	9	55				
GRIN2B	2904	broad.mit.edu	37	12	13716716	13716716	+	Silent	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:13716716G>A	ENST00000609686.1	-	13	3665	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1152					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTAGATGTCGGTCAGGTCTA	0.577																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3454-3456)acC>acT		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						109.0	90.0	96.0					12																	13716716		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716716G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3456C>T	12.37:g.13716716G>A							p.T1152T	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3665	-			1152					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3456C>T	CCDS8662.1																																																																																				0.577	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			24	40	0	0	0	0.014323	0	24	40				
SLC12A6	9990	broad.mit.edu	37	15	34553159	34553159	+	Missense_Mutation	SNP	C	C	T	rs199747285		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:34553159C>T	ENST00000354181.3	-	4	871	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E118K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E76K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E112K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	127					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E118K(1)|p.E76K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCAAAATATTCATCTCCTTCT	0.333																																						ENST00000354181.3																			2	Substitution - Missense(2)	p.E118K(1)|p.E76K(1)	cervix(2)	central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(379-381)Gaa>Aaa		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						65.0	71.0	69.0					15																	34553159		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34553159C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.379G>A	15.37:g.34553159C>T	ENSP00000346112:p.Glu127Lys					SLC12A6_ENST00000558667.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E112K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E76K|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E118K	p.E127K			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	4	871	-		all_lung(180;2.78e-08)	127					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.379G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103382	0.56291	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	4.87	4.87	0.63330	.	0.205869	0.41500	D	0.000869	T	0.72581	0.3478	N	0.19112	0.55	0.80722	D	1	B;P;B	0.37548	0.058;0.599;0.071	B;B;B	0.38327	0.098;0.271;0.065	T	0.71069	-0.4699	10	0.23302	T	0.38	.	15.0441	0.71813	0.0:1.0:0.0:0.0	.	112;127;76	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	K	76;112;118;68;68	ENSP00000290209:E76K;ENSP00000380819:E112K;ENSP00000380814:E68K;ENSP00000387725:E68K	ENSP00000290209:E76K	E	-	1	0	SLC12A6	32340451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.199000	0.51043	2.530000	0.85305	0.563000	0.77884	GAA		0.333	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		8	64	0	0	0	0.006214	0	8	64				
KCNK2	3776	broad.mit.edu	37	1	215368303	215368303	+	Silent	SNP	C	C	T	rs149941939		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:215368303C>T	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	277					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CAGGTGGATCCGATATTGAAT	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14416	0.0		0.0	False		,,,				2504	0.0					ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(829-831)tcC>tcT		potassium channel, subfamily K, member 2	Dofetilide(DB00204)	C	,,	2,4404	4.2+/-10.8	0,2,2201	176.0	176.0	176.0		819,831,786	-9.6	0.5	1	dbSNP_134	176	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous,coding-synonymous	KCNK2	NM_001017424.2,NM_001017425.2,NM_014217.3	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	273/423,277/427,262/412	215368303	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3776						outward rectifier potassium channel activity	g.chr1:215368303C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.831C>T	1.37:g.215368303C>T						KCNK2_ENST00000391895.2_Silent_p.S273S|KCNK2_ENST00000391894.2_Silent_p.S262S	p.S277S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	6	981	+			277					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	c.831C>T	CCDS41467.1																																																																																				0.373	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		74	154	0	0	0	0.014410	0	74	154				
FAM209A	200232	broad.mit.edu	37	20	55099979	55099979	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:55099979G>A	ENST00000371328.3	+	1	438	c.115G>A	c.(115-117)Gga>Aga	p.G39R	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	39						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GGTGCAATACGGAGAGCACTT	0.517																																						ENST00000371328.3																			0											c.(115-117)Gga>Aga		family with sequence similarity 209, member A							158.0	143.0	148.0					20																	55099979		2203	4300	6503	SO:0001583	missense	200232							g.chr20:55099979G>A	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.115G>A	20.37:g.55099979G>A	ENSP00000360379:p.Gly39Arg					GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	p.G39R	NM_001012971.3	NP_001012989.2					1	438	+								Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	c.115G>A	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	G	8.899	0.955979	0.18507	.	.	ENSG00000124103	ENST00000371328	T	0.18338	2.22	5.51	5.51	0.81932	.	0.000000	0.49305	D	0.000148	T	0.33440	0.0863	L	0.57536	1.79	0.37883	D	0.930445	D	0.89917	1.0	D	0.77004	0.989	T	0.10222	-1.0639	10	0.07325	T	0.83	-20.5806	14.8926	0.70620	0.0:0.0:1.0:0.0	.	39	Q5JX71	CT106_HUMAN	R	39	ENSP00000360379:G39R	ENSP00000360379:G39R	G	+	1	0	C20orf106	54533386	0.993000	0.37304	0.686000	0.30086	0.003000	0.03518	2.842000	0.48230	2.577000	0.86979	0.467000	0.42956	GGA		0.517	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			8	112	0	0	0	0.008291	0	8	112				
HECTD2	143279	broad.mit.edu	37	10	93253266	93253266	+	Splice_Site	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:93253266G>A	ENST00000298068.5	+	14	1615		c.e14+1		HECTD2_ENST00000446394.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTTGGAATTGTATCCTTTAA	0.308																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.e15+1		HECT domain containing E3 ubiquitin protein ligase 2							95.0	87.0	90.0					10																	93253266		2203	4296	6499	SO:0001630	splice_region_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93253266G>A	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1521+1G>A	10.37:g.93253266G>A						HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site				Q5U5R9	HECD2_HUMAN			15	1633	+								Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Splice_Site	SNP	ENST00000298068.5	37		CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640659	0.87859	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECTD2	93243246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.163000	0.94750	2.880000	0.98712	0.650000	0.86243	.		0.308	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		Intron	15	30	0	0	0	0.028581	0	15	30				
MCMBP	79892	broad.mit.edu	37	10	121616907	121616907	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:121616907C>T	ENST00000360003.3	-	5	541	c.372G>A	c.(370-372)ttG>ttA	p.L124L	MCMBP_ENST00000369077.3_Silent_p.L124L|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	124					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TCTGTCTTTCCAAAGTGGTAT	0.328																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(370-372)ttG>ttA		minichromosome maintenance complex binding protein							110.0	111.0	111.0					10																	121616907		2203	4300	6503	SO:0001819	synonymous_variant	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121616907C>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.372G>A	10.37:g.121616907C>T						MCMBP_ENST00000369077.3_Silent_p.L124L|MCMBP_ENST00000466047.1_5'UTR	p.L124L	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			5	541	-			124					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	c.372G>A	CCDS7617.1																																																																																				0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		6	56	0	0	0	0.003080	0	6	56				
SP140	11262	broad.mit.edu	37	2	231155227	231155227	+	Silent	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:231155227A>G	ENST00000392045.3	+	19	1887	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000420434.3_Silent_p.P564P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	591	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTTGCTTCCAGTGACCTGTG	0.418																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1771-1773)ccA>ccG		SP140 nuclear body protein							163.0	154.0	157.0					2																	231155227		1868	4100	5968	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231155227A>G	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1773A>G	2.37:g.231155227A>G						SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000420434.3_Silent_p.P564P	p.P591P	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	19	1887	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	591			SAND.		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.1773A>G	CCDS42831.1																																																																																				0.418	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		4	105	0	0	0	0.009096	0	4	105				
LRRC41	10489	broad.mit.edu	37	1	46751117	46751117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:46751117delG	ENST00000343304.6	-	4	1697	c.1412delC	c.(1411-1413)ccafs	p.P471fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	471					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTGGAGAGTGGAACTGTGAA	0.567																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1411-1413)cafs		leucine rich repeat containing 41							87.0	82.0	84.0					1																	46751117		2203	4300	6503	SO:0001589	frameshift_variant	10489							g.chr1:46751117delG	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1412delC	1.37:g.46751117delG	ENSP00000343298:p.Pro471fs					LRRC41_ENST00000472710.1_5'UTR	p.P471fs	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1697	-	Acute lymphoblastic leukemia(166;0.155)		471					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Del	DEL	ENST00000343304.6	37	c.1412delC	CCDS533.1																																																																																				0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		13	77						13	77	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(220-225)aagatgfs		cyclin-dependent kinase-like 2 (CDC2-related kinase)																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	925_926	-			75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		8	86						8	86	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64536550	64536551	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:64536550_64536551delTG	ENST00000377390.3	-	8	1167_1168	c.830_831delCA	c.(829-831)acafs	p.T277fs	SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	277					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTACACACTGTGGTGTTGGT	0.505																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(829-831)afs		splicing factor 1																																				SO:0001589	frameshift_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536550_64536551delTG	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.830_831delCA	11.37:g.64536552_64536553delTG	ENSP00000366607:p.Thr277fs					SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs	p.T277fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			8	1167_1168	-			277					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	ENST00000377390.3	37	c.830_831delCA	CCDS31599.1																																																																																				0.505	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		82	330						82	330	---	---	---	---
DACH1	1602	broad.mit.edu	37	13	72440704	72440705	+	In_Frame_Ins	INS	-	-	GCC	rs538753327	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:72440704_72440705insGCC	ENST00000359684.2	-	1	202_203	c.203_204insGGC	c.(202-204)gcc>gcGGCc	p.68_68A>AA	DACH1_ENST00000354591.4_In_Frame_Ins_p.68_68A>AA|DACH1_ENST00000313174.7_In_Frame_Ins_p.68_68A>AA|DACH1_ENST00000305425.4_In_Frame_Ins_p.68_68A>AA			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	68	Poly-Ala.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGTGACTGTGGCCGCCGCCGC	0.797														20	0.00399361	0.0129	0.0014	5008	,	,		6810	0.001		0.0	False		,,,				2504	0.001					ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(202-204)gac>gGGCac		dachshund homolog 1 (Drosophila)																																				SO:0001652	inframe_insertion	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72440704_72440705insGCC	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.201_203dupGGC	13.37:g.72440711_72440713dupGCC	ENSP00000352712:p.Ala68dup					DACH1_ENST00000359684.2_In_Frame_Ins_p.68_68D>GH|DACH1_ENST00000354591.4_In_Frame_Ins_p.68_68D>GH|DACH1_ENST00000313174.7_In_Frame_Ins_p.68_68D>GH	p.68_68D>GH	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	1	625_626	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	68			Poly-Ala.		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	In_Frame_Ins	INS	ENST00000359684.2	37	c.203_204insGGC																																																																																					0.797	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		3	4						3	4	---	---	---	---
KIAA0247	9766	broad.mit.edu	37	14	70125381	70125381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:70125381delC	ENST00000342745.4	+	2	385	c.72delC	c.(70-72)ttcfs	p.F24fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	24						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGTGTTCCTTCCGCTAG	0.493																																						ENST00000342745.4																			0				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10						c.(70-72)ttfs		KIAA0247							228.0	173.0	192.0					14																	70125381		2203	4300	6503	SO:0001589	frameshift_variant	9766					integral to membrane		g.chr14:70125381delC	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.72delC	14.37:g.70125381delC	ENSP00000344424:p.Phe24fs						p.F24fs	NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	2	385	+			24						Frame_Shift_Del	DEL	ENST00000342745.4	37	c.72delC	CCDS9796.1																																																																																				0.493	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		23	122						23	122	---	---	---	---
MAZ	4150	broad.mit.edu	37	16	29821006	29821006	+	Intron	DEL	G	G	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:29821006delG	ENST00000322945.6	+	5	1444				PRRT2_ENST00000358758.7_5'Flank|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000219782.6_Frame_Shift_Del_p.L475fs|MAZ_ENST00000545521.1_Intron|PRRT2_ENST00000567659.1_5'Flank|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568282.1_Frame_Shift_Del_p.L76fs|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A478fs*>16(1)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGACCCATCTGGGGGGGGCCG	0.741																																					Colon(72;875 1167 15364 30899 37091)	ENST00000219782.6																			1	Deletion - Frameshift(1)	p.A478fs*>16(1)	ovary(1)	endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1423-1425)ctfs		MYC-associated zinc finger protein (purine-binding transcription factor)							5.0	7.0	6.0					16																	29821006		1794	3965	5759	SO:0001627	intron_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821006delG	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1280-392G>-	16.37:g.29821006delG						AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_Frame_Shift_Del_p.L76fs|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000322945.6_Intron|MAZ_ENST00000568544.1_Intron	p.L475fs	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN			5	1531	+			213					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Frame_Shift_Del	DEL	ENST00000322945.6	37	c.1425delG	CCDS42143.1																																																																																				0.741	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		7	13						7	13	---	---	---	---
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642																																						ENST00000566806.1																			0																																																			0							g.chr16:32095553delG																													16.37:g.32095553delG														0	499	-									RNA	DEL	ENST00000566806.1	37																																																																																						0.642	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	9						4	9	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66431906	66431906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:66431906delC	ENST00000341529.3	+	9	1530	c.1382delC	c.(1381-1383)tccfs	p.S461fs	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	461	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GGAAAAGAATCCATTGTGCAA	0.542																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1381-1383)tcfs		cadherin 5, type 2 (vascular endothelium)							133.0	128.0	130.0					16																	66431906		2201	4300	6501	SO:0001589	frameshift_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66431906delC	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1382delC	16.37:g.66431906delC	ENSP00000344115:p.Ser461fs					CDH5_ENST00000539168.1_5'UTR	p.S461fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	9	1530	+		Ovarian(137;0.0955)	461			Cadherin 4.		Q4VAI5|Q4VAI6	Frame_Shift_Del	DEL	ENST00000341529.3	37	c.1382delC	CCDS10804.1																																																																																				0.542	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		45	131						45	131	---	---	---	---
