#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
HMGB4	127540	broad.mit.edu	37	1	34330273	34330273	+	Missense_Mutation	SNP	C	C	T	rs192690973	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:34330273C>T	ENST00000522796.1	+	4	2386	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Missense_Mutation_p.R161C|CSMD2_ENST00000373381.4_Intron			Q8WW32	HMGB4_HUMAN	high mobility group box 4	161						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAACTCTACCGTAAACAATG	0.478													C|||	3	0.000599042	0.0	0.0	5008	,	,		18413	0.0		0.003	False		,,,				2504	0.0					uc021oky.1																			0				NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(481-483)Cgt>Tgt		Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.							60.0	67.0	65.0					1																	34330273		2203	4300	6503	SO:0001583	missense	127540					nucleus	DNA binding	g.chr1:34330273C>T		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.481C>T	1.37:g.34330273C>T	ENSP00000430919:p.Arg161Cys					CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.R161C|HMGB4_uc001bxq.3_Missense_Mutation_p.R87C	p.R161C	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN			0	481	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	161					B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	c.481C>T	CCDS30668.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	13.28	2.188796	0.38609	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.98164	-4.76;-4.76	5.1	4.19	0.49359	.	0.495214	0.16757	N	0.200744	D	0.96617	0.8896	M	0.66378	2.025	0.32737	N	0.508219	B	0.18863	0.031	B	0.10450	0.005	D	0.98014	1.0367	10	0.54805	T	0.06	.	9.5638	0.39385	0.0:0.905:0.0:0.095	.	161	B2R4X7	.	C	161	ENSP00000429214:R161C;ENSP00000430919:R161C	ENSP00000429214:R161C	R	+	1	0	HMGB4	34102860	0.765000	0.28485	0.510000	0.27712	0.047000	0.14425	1.661000	0.37408	1.377000	0.46286	0.609000	0.83330	CGT		0.478	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205	
STK40	83931	broad.mit.edu	37	1	36820904	36820904	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:36820904T>C	ENST00000373129.3	-	6	879	c.473A>G	c.(472-474)aAc>aGc	p.N158S	STK40_ENST00000359297.2_Missense_Mutation_p.N158S|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373132.3_Missense_Mutation_p.N158S|STK40_ENST00000373130.3_Missense_Mutation_p.N163S	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GTGCTGCAGGTTGATGAGGTC	0.562																																						uc001cak.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.(472-474)aAc>aGc		Homo sapiens serine/threonine kinase 40 (STK40), mRNA.							268.0	230.0	243.0					1																	36820904		2203	4300	6503	SO:0001583	missense	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36820904T>C	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.473A>G	1.37:g.36820904T>C	ENSP00000362221:p.Asn158Ser					STK40_uc001cal.1_Missense_Mutation_p.N163S|STK40_uc001cam.1_Missense_Mutation_p.N158S|STK40_uc001can.1_Missense_Mutation_p.N158S	p.N158S	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN			5	880	-		Myeloproliferative disorder(586;0.0393)	158			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	c.473A>G	CCDS407.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684792	0.88639	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	N	0.17901	0.54	0.80722	D	1	P;D;D	0.67145	0.835;0.995;0.996	B;P;D	0.64042	0.435;0.87;0.921	T	0.66666	-0.5866	10	0.41790	T	0.15	-38.8407	15.5237	0.75885	0.0:0.0:0.0:1.0	.	158;163;158	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	S	158;158;163;158	ENSP00000362221:N158S;ENSP00000352245:N158S;ENSP00000362222:N163S;ENSP00000362224:N158S	ENSP00000352245:N158S	N	-	2	0	STK40	36593491	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.611000	0.82962	2.263000	0.75096	0.379000	0.24179	AAC		0.562	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017	
CTPS1	1503	broad.mit.edu	37	1	41461704	41461705	+	Frame_Shift_Ins	INS	-	-	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:41461704_41461705insA	ENST00000372621.4	+	8	1344_1345	c.836_837insA	c.(835-840)agaaaafs	p.RK279fs	CTPS1_ENST00000372616.1_Frame_Shift_Ins_p.RK279fs|CTPS1_ENST00000543104.1_Frame_Shift_Ins_p.RK286fs|CTPS1_ENST00000541520.1_Frame_Shift_Ins_p.RK48fs	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						AGGCAGCCAAGAAAAATGCTGA	0.475																																						uc001cgk.4																			0				endometrium(3)|lung(10)	13						c.(835-837)agafs		Homo sapiens CTP synthase (CTPS), mRNA.	L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41461704_41461705insA	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.841dupA	1.37:g.41461709_41461709dupA	ENSP00000361704:p.Arg279fs					CTPS1_uc010ojo.2_Frame_Shift_Ins_p.R48fs|CTPS1_uc010ojp.1_Frame_Shift_Ins_p.R286fs|CTPS1_uc001cgl.4_Frame_Shift_Ins_p.R279fs|CTPS1_uc010ojq.2_Frame_Shift_Ins_p.R123fs	p.R279fs	NM_001905	NP_001896	P17812	PYRG1_HUMAN			7	1344_1345	+			279						Frame_Shift_Ins	INS	ENST00000372621.4	37	c.836_837insA	CCDS459.1																																																																																				0.475	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905	
IFI44L	10964	broad.mit.edu	37	1	79094655	79094655	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:79094655C>T	ENST00000370751.5	+	3	677	c.498C>T	c.(496-498)gaC>gaT	p.D166D	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	166					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAACCTAGACGACATAAAGA	0.294																																						uc010oro.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(496-498)gaC>gaT		Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.							83.0	86.0	85.0					1																	79094655		2203	4300	6503	SO:0001819	synonymous_variant	10964					cytoplasm		g.chr1:79094655C>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.498C>T	1.37:g.79094655C>T						IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	p.D166D	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			2	677	+			166					Q86TE1|Q96B64|Q99984	Silent	SNP	ENST00000370751.5	37	c.498C>T	CCDS687.2																																																																																				0.294	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820	
OR6N1	128372	broad.mit.edu	37	1	158735944	158735944	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:158735944C>T	ENST00000335094.2	-	1	548	c.529G>A	c.(529-531)Gtc>Atc	p.V177I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCACAAAAGACGTGCTGAATG	0.473																																						uc010piq.2																			0		p.V177V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(529-531)Gtc>Atc		Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.							100.0	103.0	102.0					1																	158735944		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735944C>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.529G>A	1.37:g.158735944C>T	ENSP00000335535:p.Val177Ile						p.V177I	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			0	529	-	all_hematologic(112;0.0378)		177					Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.529G>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	0.720	-0.783763	0.02907	.	.	ENSG00000197403	ENST00000335094	T	0.00084	8.75	4.78	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.141721	0.32444	N	0.006084	T	0.00012	0.0000	N	0.00707	-1.245	0.19300	N	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.48747	-0.9008	10	0.41790	T	0.15	-14.6426	4.1324	0.10156	0.2733:0.0909:0.0:0.6358	.	177	Q8NGY5	OR6N1_HUMAN	I	177	ENSP00000335535:V177I	ENSP00000335535:V177I	V	-	1	0	OR6N1	157002568	0.061000	0.20836	1.000000	0.80357	0.976000	0.68499	0.258000	0.18387	0.825000	0.34637	-0.294000	0.09567	GTC		0.473	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
USH2A	7399	broad.mit.edu	37	1	216419959	216419959	+	Missense_Mutation	SNP	C	C	T	rs146916397	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:216419959C>T	ENST00000307340.3	-	13	3163	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	USH2A_ENST00000366942.3_Missense_Mutation_p.R926H|USH2A_ENST00000366943.2_Missense_Mutation_p.R926H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	926	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTCCTTGACGATTAGGCAC	0.423										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2776-2778)cGt>cAt		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	172.0	168.0	169.0		2777,2777	2.7	0.4	1	dbSNP_134	169	1,8599	2.2+/-6.3	0,1,4299	yes	missense,missense	USH2A	NM_007123.5,NM_206933.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	926/1547,926/5203	216419959	1,13005	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216419959C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2777G>A	1.37:g.216419959C>T	ENSP00000305941:p.Arg926His	HNSCC(13;0.011)				USH2A_uc001hkv.3_Missense_Mutation_p.R926H	p.R926H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	12	3164	-			926			Laminin EGF-like 8.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2777G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476646	0.44044	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61510	0.1;0.1;0.1	6.03	2.73	0.32206	EGF-like, laminin (4);	0.173314	0.27640	N	0.018461	T	0.42268	0.1195	L	0.45137	1.4	0.30967	N	0.722995	B;P	0.35507	0.085;0.506	B;B	0.30782	0.045;0.12	T	0.42207	-0.9465	10	0.15066	T	0.55	.	10.7361	0.46126	0.0:0.7186:0.0:0.2814	.	926;926	O75445-2;O75445	.;USH2A_HUMAN	H	926	ENSP00000305941:R926H;ENSP00000355910:R926H;ENSP00000355909:R926H	ENSP00000305941:R926H	R	-	2	0	USH2A	214486582	0.179000	0.23135	0.448000	0.26945	0.981000	0.71138	0.635000	0.24629	0.881000	0.35993	0.655000	0.94253	CGT		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
OR2L2	26246	broad.mit.edu	37	1	248202093	248202094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:248202093_248202094insT	ENST00000366479.2	+	1	620_621	c.524_525insT	c.(523-528)cattttfs	p.HF175fs	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCATCAATCATTTTTTCTGTG	0.431																																						uc001idw.3																			0		p.H175Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(523-525)catfs		Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.																																				SO:0001589	frameshift_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202093_248202094insT	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.530dupT	1.37:g.248202099_248202099dupT	ENSP00000355435:p.His175fs					OR2L13_uc001ids.3_Intron	p.H175fs	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		0	620_621	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		175					Q2M3T5	Frame_Shift_Ins	INS	ENST00000366479.2	37	c.524_525insT	CCDS31103.1																																																																																				0.431	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686	
PTEN	5728	broad.mit.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr10:89711891G>A	ENST00000371953.3	+	6	1866	c.509G>A	c.(508-510)aGt>aAt	p.S170N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BRRS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117, ECO:0000269|PubMed:9241266}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S170N(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S170I(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		65	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(9)|Complex - frameshift(4)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)	central_nervous_system(18)|prostate(16)|skin(8)|endometrium(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|biliary_tract(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(508-510)aGt>aAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							121.0	124.0	123.0					10																	89711891		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711891G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.509G>A	10.37:g.89711891G>A	ENSP00000361021:p.Ser170Asn	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.S170N	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1541	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	170		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.509G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140552	0.94560	.	.	ENSG00000171862	ENST00000371953	D	0.98822	-5.16	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.077988	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96489	3.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98342	1.0539	9	.	.	.	-3.8658	19.9308	0.97118	0.0:0.0:1.0:0.0	.	170	P60484	PTEN_HUMAN	N	170	ENSP00000361021:S170N	.	S	+	2	0	PTEN	89701871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	AGT		0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CELF1	10658	broad.mit.edu	37	11	47496959	47496959	+	Missense_Mutation	SNP	G	G	A	rs565562546		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:47496959G>A	ENST00000358597.3	-	10	1117	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	CELF1_ENST00000532048.1_Missense_Mutation_p.A399V|CELF1_ENST00000361904.3_Missense_Mutation_p.A370V|CELF1_ENST00000531165.1_Missense_Mutation_p.A401V|CELF1_ENST00000395292.2_Missense_Mutation_p.A370V|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000395290.2_Missense_Mutation_p.A372V|CELF1_ENST00000310513.5_Missense_Mutation_p.A369V			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	373					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGTGGGGAGCGCAGCAGCAGC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18290	0.0		0.0	False		,,,				2504	0.001				Pancreas(163;1949 1966 9906 43218 43785)	uc001nfp.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(1201-1203)gCg>gTg		Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.							82.0	76.0	78.0					11																	47496959		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47496959G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1118C>T	11.37:g.47496959G>A	ENSP00000351409:p.Ala373Val					CELF1_uc001nfl.3_Missense_Mutation_p.A373V|CELF1_uc010rhm.2_Missense_Mutation_p.A372V|CELF1_uc001nfm.3_Missense_Mutation_p.A370V|CELF1_uc001nfk.2_Missense_Mutation_p.A399V|CELF1_uc001nfn.3_Missense_Mutation_p.A369V|CELF1_uc001nfr.1_Missense_Mutation_p.A373V	p.A401V	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN			12	1604	-			373			RRM 3.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.1202C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422976	0.96111	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.4	5.4	0.78164	.	0.160430	0.43260	D	0.000588	T	0.80243	0.4587	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.999;0.969;0.969;0.999;0.947	D;D;P;P;D;P	0.71184	0.972;0.972;0.741;0.654;0.972;0.452	T	0.75671	-0.3237	10	0.20519	T	0.43	-7.0415	19.1801	0.93620	0.0:0.0:1.0:0.0	.	372;401;399;369;370;373	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	V	372;373;370;369;370;401;399	ENSP00000378705:A372V;ENSP00000351409:A373V;ENSP00000378706:A370V;ENSP00000308386:A369V;ENSP00000354639:A370V;ENSP00000436864:A401V;ENSP00000435926:A399V	ENSP00000308386:A369V	A	-	2	0	CELF1	47453535	1.000000	0.71417	0.158000	0.22627	0.946000	0.59487	9.869000	0.99810	2.537000	0.85549	0.557000	0.71058	GCG		0.577	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560	
ANO1	55107	broad.mit.edu	37	11	70009414	70009414	+	Missense_Mutation	SNP	G	G	A	rs370304912	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:70009414G>A	ENST00000355303.5	+	19	2223	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M	ANO1_ENST00000538023.1_Missense_Mutation_p.V640M|ANO1_ENST00000531349.1_Missense_Mutation_p.V349M|ANO1_ENST00000530676.1_Missense_Mutation_p.V494M|ANO1_ENST00000398543.2_Missense_Mutation_p.V494M|ANO1_ENST00000316296.5_Missense_Mutation_p.V582M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	640					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GGGCGACTACGTGTACATTTT	0.527																																						uc001opj.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1918-1920)Gtg>Atg		Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.							65.0	68.0	67.0					11																	70009414		1947	4126	6073	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70009414G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1918G>A	11.37:g.70009414G>A	ENSP00000347454:p.Val640Met					ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.V582M|ANO1_uc010rqk.2_Missense_Mutation_p.V349M	p.V640M	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			18	2223	+			640					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1918G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916688	0.52546	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.72167	-0.22;-0.31;-0.63;0.12;-0.63;-0.34	5.08	5.08	0.68730	.	0.219103	0.39341	N	0.001390	T	0.76955	0.4060	L	0.50333	1.59	0.32922	D	0.515987	D;D;D	0.64830	0.986;0.994;0.987	P;P;P	0.61003	0.882;0.763;0.593	T	0.81129	-0.1073	9	.	.	.	.	13.8074	0.63240	0.0:0.0:0.8469:0.1531	.	349;582;640	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	M	640;640;494;398;582;494;349	ENSP00000347454:V640M;ENSP00000444689:V640M;ENSP00000381551:V494M;ENSP00000319477:V582M;ENSP00000435797:V494M;ENSP00000432843:V349M	.	V	+	1	0	ANO1	69687062	0.982000	0.34865	1.000000	0.80357	0.543000	0.35085	1.822000	0.39052	2.535000	0.85469	0.655000	0.94253	GTG		0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043	
NFRKB	4798	broad.mit.edu	37	11	129762715	129762715	+	Missense_Mutation	SNP	A	A	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:129762715A>C	ENST00000446488.3	-	2	133	c.30T>G	c.(28-30)gaT>gaG	p.D10E	NFRKB_ENST00000304521.5_Missense_Mutation_p.D10E|NFRKB_ENST00000526940.1_Missense_Mutation_p.D10E|NFRKB_ENST00000524746.1_Missense_Mutation_p.D10E|NFRKB_ENST00000524794.1_Missense_Mutation_p.D23E	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	10					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCCAGAGGATCTGTCAGCA	0.522																																						uc001qfg.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(67-69)gaT>gaG		Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.							201.0	167.0	178.0					11																	129762715		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129762715A>C		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.30T>G	11.37:g.129762715A>C	ENSP00000400476:p.Asp10Glu					NFRKB_uc001qfi.3_Missense_Mutation_p.D10E|NFRKB_uc001qfh.3_Missense_Mutation_p.D33E|NFRKB_uc010sbw.1_Missense_Mutation_p.D10E	p.D23E	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	0	190	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	10					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.69T>G	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007354	0.54361	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884;ENST00000531318	.	.	.	5.24	-1.46	0.08800	.	0.051707	0.64402	D	0.000001	T	0.38799	0.1054	L	0.31294	0.92	0.38390	D	0.945386	B;B;P;P	0.40970	0.384;0.107;0.734;0.518	B;B;B;B	0.39503	0.113;0.048;0.301;0.225	T	0.42799	-0.9430	9	0.87932	D	0	-11.6159	13.4803	0.61332	0.3652:0.0:0.6348:0.0	.	10;10;10;23	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	E	10;10;23;10;10;10;10;10;10;10	.	ENSP00000303800:D10E	D	-	3	2	NFRKB	129267925	0.710000	0.27896	0.995000	0.50966	0.992000	0.81027	-0.101000	0.10973	-0.277000	0.09193	0.477000	0.44152	GAT		0.522	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165	
CACNA1C	775	broad.mit.edu	37	12	2602399	2602399	+	Silent	SNP	G	G	A	rs553958501		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:2602399G>A	ENST00000347598.4	+	7	960	c.960G>A	c.(958-960)acG>acA	p.T320T	CACNA1C_ENST00000399603.1_Silent_p.T320T|CACNA1C_ENST00000399617.1_Silent_p.T320T|CACNA1C_ENST00000399644.1_Silent_p.T320T|CACNA1C_ENST00000399638.1_Silent_p.T320T|CACNA1C_ENST00000399591.1_Silent_p.T320T|CACNA1C_ENST00000399601.1_Silent_p.T320T|CACNA1C_ENST00000402845.3_Silent_p.T320T|CACNA1C_ENST00000480911.1_Silent_p.T320T|CACNA1C_ENST00000399629.1_Silent_p.T320T|CACNA1C_ENST00000344100.3_Silent_p.T320T|CACNA1C_ENST00000399655.1_Silent_p.T320T|CACNA1C_ENST00000399637.1_Silent_p.T320T|CACNA1C_ENST00000399595.1_Silent_p.T320T|CACNA1C_ENST00000399597.1_Silent_p.T320T|CACNA1C_ENST00000399606.1_Silent_p.T320T|CACNA1C_ENST00000406454.3_Silent_p.T320T|CACNA1C_ENST00000399621.1_Silent_p.T320T|CACNA1C_ENST00000399649.1_Silent_p.T320T|CACNA1C_ENST00000399634.1_Silent_p.T320T|CACNA1C_ENST00000335762.5_Silent_p.T320T|CACNA1C_ENST00000399641.1_Silent_p.T320T|CACNA1C_ENST00000327702.7_Silent_p.T320T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	320					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTGGAAACGGGCCACGGGC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19713	0.0		0.0	False		,,,				2504	0.001					uc009zdu.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(958-960)acG>acA		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						75.0	78.0	77.0					12																	2602399		2151	4265	6416	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2602399G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.960G>A	12.37:g.2602399G>A						CACNA1C_uc001qkc.2_Silent_p.T320T|CACNA1C_uc001qjz.2_Silent_p.T320T|CACNA1C_uc001qkd.2_Silent_p.T320T|CACNA1C_uc001qke.2_Silent_p.T320T|CACNA1C_uc001qkf.2_Silent_p.T320T|CACNA1C_uc009zdw.1_Silent_p.T320T|CACNA1C_uc001qkg.2_Silent_p.T320T|CACNA1C_uc001qkh.2_Silent_p.T320T|CACNA1C_uc001qkl.2_Silent_p.T320T|CACNA1C_uc001qkj.2_Silent_p.T320T|CACNA1C_uc001qkk.2_Silent_p.T320T|CACNA1C_uc001qkn.2_Silent_p.T320T|CACNA1C_uc001qkm.2_Silent_p.T320T|CACNA1C_uc001qko.2_Silent_p.T320T|CACNA1C_uc001qkp.2_Silent_p.T320T|CACNA1C_uc001qkq.2_Silent_p.T320T|CACNA1C_uc001qku.2_Silent_p.T320T|CACNA1C_uc001qkr.2_Silent_p.T320T|CACNA1C_uc001qks.2_Silent_p.T320T|CACNA1C_uc001qkt.2_Silent_p.T320T|CACNA1C_uc009zdv.1_Silent_p.T317T|CACNA1C_uc001qkb.2_Silent_p.T320T|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.T56T	p.T320T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	6	1273	+			320					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.960G>A	CCDS44788.1																																																																																				0.607	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
CEP83	51134	broad.mit.edu	37	12	94761893	94761893	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:94761893C>T	ENST00000397809.5	-	10	1682	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CCDC41_ENST00000397807.2_Missense_Mutation_p.R345H|CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000339839.5_Missense_Mutation_p.R378H	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		370					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333																																						uc001tdd.3																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1132-1134)cGt>cAt		Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.							115.0	102.0	106.0					12																	94761893		1844	4088	5932	SO:0001583	missense	51134							g.chr12:94761893C>T																												ENST00000397809.5:c.1133G>A	12.37:g.94761893C>T	ENSP00000380911:p.Arg378His					CCDC41_uc001tde.3_Missense_Mutation_p.R378H|CCDC41_uc009zsw.1_Non-coding_Transcript	p.R378H	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			9	1719	-			370					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1133G>A	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969685	0.92855	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.54071	0.65;0.65;0.59	6.07	6.07	0.98685	.	.	.	.	.	T	0.72020	0.3409	L	0.59436	1.845	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.91635	0.917;0.999	T	0.70938	-0.4736	9	0.66056	D	0.02	-7.1547	20.6593	0.99626	0.0:1.0:0.0:0.0	.	345;370	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	H	378;378;345	ENSP00000344655:R378H;ENSP00000380911:R378H;ENSP00000380909:R345H	ENSP00000344655:R378H	R	-	2	0	CCDC41	93286024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.793000	0.62474	2.885000	0.99019	0.655000	0.94253	CGT		0.333	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-	rs185386009		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:103695960delG	ENST00000378113.2	-	6	1234	c.1009delC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000548048.1_Frame_Shift_Del_p.R270fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587																																						uc001tjt.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(1009-1011)cgcfs		Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.			,	13,3511		2,9,1751	48.0	56.0	54.0		,	0.8	0.2	12		55	19,7773		0,19,3877	no	frameshift,frameshift	C12orf42	NM_198521.2,NM_001099336.1	,	2,28,5628	A1A1,A1R,RR		0.2438,0.3689,0.2828	,	,	103695960	32,11284	1843	4081	5924	SO:0001589	frameshift_variant	374470							g.chr12:103695960delG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1009delC	12.37:g.103695960delG	ENSP00000367353:p.Arg337fs					C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs	p.R337fs	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			5	1097	-			337					Q49A64|Q4G0S2	Frame_Shift_Del	DEL	ENST00000378113.2	37	c.1009delC	CCDS44963.1																																																																																				0.587	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521	
STAB2	55576	broad.mit.edu	37	12	104102273	104102273	+	Missense_Mutation	SNP	G	G	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:104102273G>T	ENST00000388887.2	+	39	4451	c.4247G>T	c.(4246-4248)tGt>tTt	p.C1416F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATGGCTCCTGTGACTGTGAT	0.478																																						uc001tjw.3																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4246-4248)tGt>tTt		Homo sapiens stabilin 2 (STAB2), mRNA.							239.0	213.0	222.0					12																	104102273		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104102273G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4247G>T	12.37:g.104102273G>T	ENSP00000373539:p.Cys1416Phe						p.C1416F	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			38	4433	+			1416						Missense_Mutation	SNP	ENST00000388887.2	37	c.4247G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244102	0.79912	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90385	-2.66	5.4	5.4	0.78164	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.119375	0.64402	D	0.000011	D	0.97651	0.9230	H	0.98883	4.36	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98988	1.0807	10	0.87932	D	0	.	19.5463	0.95299	0.0:0.0:1.0:0.0	.	1416	Q8WWQ8	STAB2_HUMAN	F	1416;103	ENSP00000373539:C1416F	ENSP00000258495:C103F	C	+	2	0	STAB2	102626403	1.000000	0.71417	0.999000	0.59377	0.773000	0.43773	8.551000	0.90678	2.679000	0.91253	0.655000	0.94253	TGT		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
PCID2	55795	broad.mit.edu	37	13	113852564	113852564	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr13:113852564C>T	ENST00000337344.4	-	3	217	c.141G>A	c.(139-141)gaG>gaA	p.E47E	PCID2_ENST00000375477.1_Silent_p.E47E|PCID2_ENST00000375459.1_Silent_p.E45E|PCID2_ENST00000246505.5_Silent_p.E47E|PCID2_ENST00000375457.2_Silent_p.E45E|PCID2_ENST00000375479.2_Silent_p.E47E	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	47					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GACACTTCTCCTCTGGAGAGG	0.358																																						uc021rmt.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(139-141)gaG>gaA		Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.							99.0	103.0	102.0					13																	113852564		2203	4300	6503	SO:0001819	synonymous_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113852564C>T	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.141G>A	13.37:g.113852564C>T						PCID2_uc021rmq.1_Silent_p.E47E|PCID2_uc021rmr.1_Silent_p.E47E|PCID2_uc021rms.1_Silent_p.E47E|PCID2_uc001vtg.2_Non-coding_Transcript	p.E47E	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	222	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	47					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	c.141G>A	CCDS9532.2																																																																																				0.358	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	
LRFN5	145581	broad.mit.edu	37	14	42356780	42356780	+	Missense_Mutation	SNP	A	A	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr14:42356780A>G	ENST00000298119.4	+	3	2141	c.952A>G	c.(952-954)Att>Gtt	p.I318V	LRFN5_ENST00000554120.1_Missense_Mutation_p.I318V|LRFN5_ENST00000554171.1_Missense_Mutation_p.I318V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	318	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGCCTGCAATTCACTGGAT	0.463										HNSCC(30;0.082)																												uc001wvm.3																			0		p.A317A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(952-954)Att>Gtt		Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.							119.0	116.0	117.0					14																	42356780		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356780A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.952A>G	14.37:g.42356780A>G	ENSP00000298119:p.Ile318Val	HNSCC(30;0.082)				LRFN5_uc010ana.3_Missense_Mutation_p.I318V	p.I318V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	2	2150	+			318			Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.952A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	7.628	0.678188	0.14841	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.60424	0.19;0.19;0.19	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	T	0.45736	0.1357	N	0.13003	0.285	0.50467	D	0.999873	B;B	0.23806	0.078;0.091	B;B	0.36666	0.048;0.23	T	0.39921	-0.9590	10	0.22109	T	0.4	.	13.6708	0.62424	1.0:0.0:0.0:0.0	.	318;318	G3V364;Q96NI6	.;LRFN5_HUMAN	V	318	ENSP00000298119:I318V;ENSP00000451897:I318V;ENSP00000451067:I318V	ENSP00000298119:I318V	I	+	1	0	LRFN5	41426530	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.526000	0.81920	2.165000	0.68154	0.460000	0.39030	ATT		0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
NDN	4692	broad.mit.edu	37	15	23931738	23931738	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr15:23931738G>A	ENST00000331837.4	-	1	712	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	209	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTTCCAGACGGCGCTCTCTC	0.632									Prader-Willi syndrome																													uc001ywk.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(625-627)gcC>gcT		Homo sapiens necdin homolog (mouse) (NDN), mRNA.							27.0	27.0	27.0					15																	23931738		2200	4296	6496	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931738G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.627C>T	15.37:g.23931738G>A							p.A209A	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	0	713	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	209			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.627C>T	CCDS10014.1																																																																																				0.632	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487	
ACSM1	116285	broad.mit.edu	37	16	20651783	20651783	+	Splice_Site	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:20651783C>T	ENST00000307493.4	-	7	1183	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	ACSM1_ENST00000520010.1_Splice_Site_p.T372T|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	372					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						caCCACCTACCGTTTCCGACT	0.483																																						uc002dhm.1																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.e7+1		Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.							116.0	88.0	97.0					16																	20651783		2201	4300	6501	SO:0001630	splice_region_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20651783C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1116+1G>A	16.37:g.20651783C>T						ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Splice_Site_p.T372_splice	p.T372_splice	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			7	1184	-			372					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.1116_splice	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	5.697	0.313088	0.10789	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.46	2.49	0.30216	.	.	.	.	.	T	0.55162	0.1903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47433	-0.9118	4	.	.	.	.	6.9509	0.24544	0.0:0.7884:0.0:0.2116	.	.	.	.	Q	78	.	.	R	-	2	0	ACSM1	20559284	0.998000	0.40836	1.000000	0.80357	0.237000	0.25408	0.132000	0.15891	0.615000	0.30124	-0.346000	0.07831	CGG		0.483	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	Silent
SCNN1B	6338	broad.mit.edu	37	16	23387159	23387159	+	Missense_Mutation	SNP	G	G	A	rs201649568		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:23387159G>A	ENST00000343070.2	+	8	1429	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q	SCNN1B_ENST00000568085.1_Missense_Mutation_p.R382Q|SCNN1B_ENST00000307331.5_Missense_Mutation_p.R463Q|SCNN1B_ENST00000568923.1_Missense_Mutation_p.R391Q	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	418					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGCAACAACCGGGACTTCCCA	0.612													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19104	0.0		0.0	False		,,,				2504	0.0					uc002dln.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1252-1254)cGg>cAg		Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)		GLN/ARG	2,4392	4.2+/-10.8	0,2,2195	98.0	89.0	92.0		1253	-2.0	0.0	16		92	0,8600		0,0,4300	yes	missense	SCNN1B	NM_000336.2	43	0,2,6495	AA,AG,GG		0.0,0.0455,0.0154	benign	418/641	23387159	2,12992	2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23387159G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1253G>A	16.37:g.23387159G>A	ENSP00000345751:p.Arg418Gln						p.R418Q	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	7	1429	+			418					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.1253G>A	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	g	0.029	-1.347617	0.01266	4.55E-4	0.0	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.63096	-0.02;-0.02	4.65	-1.98	0.07480	.	1.148870	0.06453	N	0.728097	T	0.31199	0.0789	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25117	-1.0141	10	0.07482	T	0.82	-24.6478	9.5244	0.39156	0.6011:0.0:0.3989:0.0	.	418	P51168	SCNNB_HUMAN	Q	418;463	ENSP00000345751:R418Q;ENSP00000302874:R463Q	ENSP00000302874:R463Q	R	+	2	0	SCNN1B	23294660	0.572000	0.26668	0.027000	0.17364	0.161000	0.22273	0.714000	0.25808	-0.629000	0.05575	-0.144000	0.13903	CGG		0.612	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		
PKD1L2	114780	broad.mit.edu	37	16	81181775	81181775	+	RNA	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:81181775G>A	ENST00000525539.1	-	0	4940				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAGAAGGCCGTCCTCCATGG	0.642																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(4939-4941)gaC>gaT		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							28.0	30.0	30.0					16																	81181775		1926	4129	6055			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81181775G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81181775G>A						PKD1L2_uc002fgg.1_Non-coding_Transcript	p.D1647D	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			28	4941	-			1647					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.4941C>T																																																																																					0.642	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
MTHFSD	64779	broad.mit.edu	37	16	86585659	86585659	+	Missense_Mutation	SNP	C	C	T	rs369108681		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:86585659C>T	ENST00000360900.6	-	3	242	c.217G>A	c.(217-219)Gtt>Att	p.V73I	MTHFSD_ENST00000568037.1_Intron|MTHFSD_ENST00000543303.2_Intron|MTHFSD_ENST00000381214.5_Intron|MTHFSD_ENST00000546093.1_Intron|MTHFSD_ENST00000322911.6_Missense_Mutation_p.V72I	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	73							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCAGCCGAACGCCTTCCAGT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17611	0.001		0.0	False		,,,				2504	0.0					uc002fjn.3																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(217-219)Gtt>Att		Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.		C	ILE/VAL,,,ILE/VAL,ILE/VAL	1,3921		0,1,1960	169.0	179.0	176.0		217,,,157,214	5.0	0.0	16		176	0,8278		0,0,4139	no	missense,intron,intron,missense,missense	MTHFSD	NM_001159377.1,NM_001159378.1,NM_001159379.1,NM_001159380.1,NM_022764.2	29,,,29,29	0,1,6099	TT,TC,CC		0.0,0.0255,0.0082	,,,,	73/384,,,53/364,72/383	86585659	1,12199	1961	4139	6100	SO:0001583	missense	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86585659C>T	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.217G>A	16.37:g.86585659C>T	ENSP00000354152:p.Val73Ile					MTHFSD_uc002fjm.3_Missense_Mutation_p.V72I|MTHFSD_uc010voo.2_Missense_Mutation_p.V53I|MTHFSD_uc010vop.2_5'UTR|MTHFSD_uc010voq.2_Intron|MTHFSD_uc010vor.2_Intron|MTHFSD_uc002fjo.3_Intron|MTHFSD_uc002fjp.2_Missense_Mutation_p.V53I	p.V73I	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN			2	268	-			73					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	c.217G>A	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384648	0.61845	2.55E-4	0.0	ENSG00000103248	ENST00000543303;ENST00000360900;ENST00000322911	T;T	0.38887	1.11;1.11	5.93	4.99	0.66335	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.437350	0.26407	N	0.024544	T	0.45955	0.1368	M	0.74647	2.275	0.09310	N	0.999999	B;B	0.18968	0.032;0.026	B;B	0.18561	0.022;0.013	T	0.43491	-0.9388	10	0.51188	T	0.08	-4.2219	14.3818	0.66916	0.0:0.9291:0.0:0.0708	.	73;72	Q2M296;Q2M296-2	MTHSD_HUMAN;.	I	71;73;72	ENSP00000354152:V73I;ENSP00000326777:V72I	ENSP00000326777:V72I	V	-	1	0	MTHFSD	85143160	0.944000	0.32072	0.004000	0.12327	0.994000	0.84299	2.822000	0.48073	1.513000	0.48852	0.655000	0.94253	GTT		0.537	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764	
GLP2R	9340	broad.mit.edu	37	17	9783793	9783793	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:9783793T>G	ENST00000262441.5	+	11	1757	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R	GLP2R_ENST00000574745.1_Missense_Mutation_p.L235R	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	415					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TTTGCAAAACTTATACGACTT	0.393																																						uc002gmd.1																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1243-1245)cTt>cGt		Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	Glucagon recombinant(DB00040)						184.0	166.0	172.0					17																	9783793		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9783793T>G	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1244T>G	17.37:g.9783793T>G	ENSP00000262441:p.Leu415Arg						p.L415R	NM_004246	NP_004237	O95838	GLP2R_HUMAN			10	1244	+			415					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.1244T>G	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.552467	0.27739	.	.	ENSG00000065325	ENST00000396206;ENST00000262441	T	0.37915	1.17	6.03	-12.0	0.00017	GPCR, family 2-like (1);	1.041330	0.07691	N	0.938814	T	0.23133	0.0559	L	0.42529	1.33	0.09310	N	1	B	0.17465	0.022	B	0.27076	0.076	T	0.18681	-1.0329	10	0.24483	T	0.36	.	9.2071	0.37296	0.6227:0.0:0.2389:0.1385	.	415	O95838	GLP2R_HUMAN	R	415	ENSP00000262441:L415R	ENSP00000262441:L415R	L	+	2	0	GLP2R	9724518	0.001000	0.12720	0.000000	0.03702	0.737000	0.42083	-0.217000	0.09253	-1.636000	0.01533	0.454000	0.30748	CTT		0.393	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																						uc002hvz.3																			5	Substitution - Missense(5)	p.R121K(10)|p.R121R(1)	lung(2)|prostate(1)|kidney(1)|skin(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(361-363)aGa>aAa		Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.							5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240					keratin filament		g.chr17:39274206C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys						p.R121K	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	401	-		Breast(137;0.000496)	121			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.362G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
PRKCA	5578	broad.mit.edu	37	17	64299034	64299034	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:64299034G>A	ENST00000413366.3	+	1	91	c.65G>A	c.(64-66)cGc>cAc	p.R22H	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	22					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CGCTTCGCCCGCAAAGGGGCG	0.642																																						uc002jfo.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38								Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						75.0	63.0	67.0					17																	64299034		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64299034G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.65G>A	17.37:g.64299034G>A	ENSP00000408695:p.Arg22His					PRKCA_uc002jfp.1_Missense_Mutation_p.R22H				P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		0		+								B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37		CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911740	0.92178	.	.	ENSG00000154229	ENST00000413366	D	0.88124	-2.34	3.14	3.14	0.36123	.	0.000000	0.53938	U	0.000047	D	0.92893	0.7739	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93792	0.7093	10	0.87932	D	0	.	13.802	0.63206	0.0:0.0:1.0:0.0	.	22	P17252	KPCA_HUMAN	H	22	ENSP00000408695:R22H	ENSP00000408695:R22H	R	+	2	0	PRKCA	61729496	1.000000	0.71417	0.982000	0.44146	0.914000	0.54420	8.417000	0.90247	1.316000	0.45131	0.205000	0.17691	CGC		0.642	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1		
LAMA1	284217	broad.mit.edu	37	18	6956725	6956725	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:6956725G>A	ENST00000389658.3	-	56	8097	c.8004C>T	c.(8002-8004)gtC>gtT	p.V2668V	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2668	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTCCAGGTCGACTTGCTCAT	0.512																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8002-8004)gtC>gtT		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						72.0	72.0	72.0					18																	6956725		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6956725G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8004C>T	18.37:g.6956725G>A						LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.V121V|LAMA1_uc010wzj.2_Silent_p.V2144V	p.V2668V	NM_005559	NP_005550	P25391	LAMA1_HUMAN			55	8098	-		Colorectal(10;0.172)	2668			Laminin G-like 3.			Silent	SNP	ENST00000389658.3	37	c.8004C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246653	0.22796	.	.	ENSG00000101680	ENST00000344342	.	.	.	5.48	-1.19	0.09585	.	.	.	.	.	T	0.45013	0.1321	.	.	.	0.34964	D	0.752431	.	.	.	.	.	.	T	0.53121	-0.8483	5	0.59425	D	0.04	.	0.5147	0.00601	0.1977:0.2876:0.2279:0.2867	.	.	.	.	L	120	.	ENSP00000341000:S120L	S	-	2	0	LAMA1	6946725	0.005000	0.15991	0.107000	0.21349	0.773000	0.43773	-1.523000	0.02235	-0.330000	0.08514	-0.165000	0.13383	TCG		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
SETBP1	26040	broad.mit.edu	37	18	42532158	42532158	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:42532158C>T	ENST00000282030.5	+	4	3149	c.2853C>T	c.(2851-2853)ctC>ctT	p.L951L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	951						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCGATGACCTCCAGTTTCTGG	0.502									Schinzel-Giedion syndrome																													uc010dni.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2851-2853)ctC>ctT		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							67.0	66.0	66.0					18																	42532158		2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532158C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2853C>T	18.37:g.42532158C>T							p.L951L	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	3	3149	+			951					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.2853C>T	CCDS11923.2																																																																																				0.502	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
FBN3	84467	broad.mit.edu	37	19	8130913	8130913	+	Missense_Mutation	SNP	G	G	A	rs200422303	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:8130913G>A	ENST00000600128.1	-	64	8734	c.8320C>T	c.(8320-8322)Cgg>Tgg	p.R2774W	FBN3_ENST00000270509.2_Missense_Mutation_p.R2774W|FBN3_ENST00000601739.1_Missense_Mutation_p.R2774W			Q75N90	FBN3_HUMAN	fibrillin 3	2774						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACCTCCAGCCGGTAGGTTCCA	0.677													G|||	3	0.000599042	0.0	0.0	5008	,	,		15901	0.002		0.0	False		,,,				2504	0.001					uc002mjf.3																			0		p.R2774L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8320-8322)Cgg>Tgg		Homo sapiens fibrillin 3 (FBN3), mRNA.							38.0	41.0	40.0					19																	8130913		2202	4298	6500	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130913G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8320C>T	19.37:g.8130913G>A	ENSP00000470498:p.Arg2774Trp					FBN3_uc002mje.3_Missense_Mutation_p.R570W	p.R2774W	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			62	8337	-			2774					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.8320C>T	CCDS12196.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.398	1.077347	0.20227	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87491	-2.26	4.55	2.12	0.27331	.	0.739374	0.12731	N	0.443827	T	0.79947	0.4534	L	0.39898	1.24	0.29576	N	0.849547	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.71879	-0.4459	10	0.72032	D	0.01	.	5.8113	0.18467	0.1784:0.0:0.6735:0.148	.	2774;837	Q75N90;Q6ZNB8	FBN3_HUMAN;.	W	2774;837	ENSP00000270509:R2774W	ENSP00000270509:R2774W	R	-	1	2	FBN3	8036913	0.003000	0.15002	0.989000	0.46669	0.108000	0.19459	-0.071000	0.11505	0.351000	0.24027	-0.126000	0.14955	CGG		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
ZNF536	9745	broad.mit.edu	37	19	30934790	30934790	+	Silent	SNP	C	C	T	rs144245375		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:30934790C>T	ENST00000355537.3	+	2	468	c.321C>T	c.(319-321)aaC>aaT	p.N107N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	107					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTTCCTCAACGGGCAGAACC	0.652																																						uc002nsu.1																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(319-321)aaC>aaT		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	50.0	41.0	44.0		321	-2.1	1.0	19	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous	ZNF536	NM_014717.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		107/1301	30934790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934790C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.321C>T	19.37:g.30934790C>T						ZNF536_uc010edd.1_Silent_p.N107N	p.N107N	NM_014717	NP_055532	O15090	ZN536_HUMAN			1	459	+	Esophageal squamous(110;0.0834)		107					A2RU18	Silent	SNP	ENST00000355537.3	37	c.321C>T	CCDS32984.1																																																																																				0.652	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
PDCD2L	84306	broad.mit.edu	37	19	34895691	34895691	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:34895691C>T	ENST00000246535.3	+	2	293	c.246C>T	c.(244-246)tgC>tgT	p.C82C	RP11-618P17.4_ENST00000606020.1_Silent_p.C77C|PDCD2L_ENST00000587065.2_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	82					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGCGCCTGCCCCGGCTGTA	0.721																																						uc002nvj.3																			0				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(244-246)tgC>tgT		Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.							11.0	11.0	11.0					19																	34895691		2195	4285	6480	SO:0001819	synonymous_variant	84306					cytoplasm		g.chr19:34895691C>T	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.246C>T	19.37:g.34895691C>T							p.C82C	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		1	279	+	Esophageal squamous(110;0.162)		82						Silent	SNP	ENST00000246535.3	37	c.246C>T	CCDS12438.1																																																																																				0.721	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346	
RYR1	6261	broad.mit.edu	37	19	38990276	38990276	+	Splice_Site	SNP	C	C	T	rs138617219	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:38990276C>T	ENST00000359596.3	+	44	7029	c.7029C>T	c.(7027-7029)ggC>ggT	p.G2343G	RYR1_ENST00000355481.4_Splice_Site_p.G2343G|RYR1_ENST00000360985.3_Splice_Site_p.G2343G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2343	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGTGGCCAGGCGAGAGCGTGG	0.667													c|||	4	0.000798722	0.0	0.0	5008	,	,		14863	0.0		0.0	False		,,,				2504	0.0041					uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e44-1		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)	T	,	0,4406		0,0,2203	35.0	33.0	34.0		7029,7029	-7.7	0.9	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	RYR1	NM_000540.2,NM_001042723.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	2343/5039,2343/5034	38990276	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990276C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7028-1C>T	19.37:g.38990276C>T						RYR1_uc002oiu.3_Splice_Site_p.G2343_splice|RYR1_uc002oiv.1_Splice_Site	p.G2343_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7158	+	all_cancers(60;7.91e-06)		2343			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7028_splice	CCDS33011.1																																																																																				0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Silent
NLRP12	91662	broad.mit.edu	37	19	54312898	54312898	+	Missense_Mutation	SNP	G	G	A	rs376751517		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:54312898G>A	ENST00000324134.6	-	3	2183	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	NLRP12_ENST00000391772.1_Missense_Mutation_p.A672V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A672V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A672V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A672V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A672V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A672V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A672V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	672					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCGTCCGCGCTGTAGGT	0.622																																						uc002qcj.4																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2014-2016)gCg>gTg		Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.							35.0	33.0	34.0					19																	54312898		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54312898G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2015C>T	19.37:g.54312898G>A	ENSP00000319377:p.Ala672Val					NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.A672V|NLRP12_uc002qci.4_Missense_Mutation_p.A672V|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.A672V	p.A672V	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	2235	-	Ovarian(34;0.19)		672					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2015C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	5.217	0.225489	0.09916	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;D;D	0.88277	0.73;0.73;0.73;0.73;0.73;-2.36;-2.36	3.86	1.6	0.23607	.	1.295240	0.05811	N	0.614052	D	0.84611	0.5510	M	0.61703	1.905	0.09310	N	0.999999	B;B;B;B	0.28667	0.154;0.089;0.154;0.219	B;B;B;B	0.15870	0.006;0.004;0.006;0.014	T	0.66732	-0.5849	10	0.31617	T	0.26	.	4.679	0.12725	0.1187:0.0:0.6668:0.2145	.	672;672;672;672	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	672	ENSP00000319377:A672V;ENSP00000438030:A672V;ENSP00000340473:A672V;ENSP00000346231:A672V;ENSP00000375655:A672V;ENSP00000375653:A672V;ENSP00000375652:A672V	ENSP00000319377:A672V	A	-	2	0	NLRP12	59004710	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.381000	0.20619	0.219000	0.20840	0.485000	0.47835	GCG		0.622	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
AFF3	3899	broad.mit.edu	37	2	100209854	100209854	+	Missense_Mutation	SNP	G	G	C	rs56151323		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:100209854G>C	ENST00000409236.2	-	13	2381	c.2269C>G	c.(2269-2271)Cta>Gta	p.L757V	AFF3_ENST00000409579.1_Missense_Mutation_p.L782V|AFF3_ENST00000356421.2_Missense_Mutation_p.L782V|AFF3_ENST00000317233.4_Missense_Mutation_p.L757V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	757					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGTCCTTTAGAGGGGAGAGA	0.572																																						uc002taf.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2344-2346)Cta>Gta		Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.							69.0	65.0	66.0					2																	100209854		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209854G>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2269C>G	2.37:g.100209854G>C	ENSP00000387207:p.Leu757Val					AFF3_uc002tag.3_Missense_Mutation_p.L757V|AFF3_uc010fiq.1_Missense_Mutation_p.L757V|AFF3_uc010yvr.1_Missense_Mutation_p.L910V|AFF3_uc002tah.1_Missense_Mutation_p.L782V	p.L782V	NM_001025108	NP_001020279	P51826	AFF3_HUMAN			13	2488	-			757					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2344C>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359926	0.41801	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.5	0.364	0.16124	.	0.313023	0.26079	N	0.026466	T	0.79482	0.4453	M	0.64997	1.995	0.20074	N	0.999938	D;P;D	0.57899	0.981;0.768;0.976	D;P;P	0.63033	0.91;0.739;0.797	T	0.67780	-0.5582	10	0.23302	T	0.38	.	5.4631	0.16627	0.4653:0.0:0.4048:0.1299	.	910;757;782	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	V	757;782;782;757;757;910	ENSP00000317421:L757V;ENSP00000348793:L782V;ENSP00000386834:L782V;ENSP00000387207:L757V	ENSP00000317421:L757V	L	-	1	2	AFF3	99576286	0.835000	0.29415	0.032000	0.17829	0.957000	0.61999	0.419000	0.21247	-0.223000	0.09943	-0.258000	0.10820	CTA		0.572	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
SCN9A	6335	broad.mit.edu	37	2	167162345	167162345	+	Missense_Mutation	SNP	G	G	A	rs202083986		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:167162345G>A	ENST00000409435.1	-	4	552	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCN9A_ENST00000375387.4_Missense_Mutation_p.R186C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R186C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R185C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	185					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGGGTCACGAAGAAAAGTG	0.378																																						uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(553-555)Cgt>Tgt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						84.0	82.0	83.0					2																	167162345		1843	4105	5948	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167162345G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.553C>T	2.37:g.167162345G>A	ENSP00000386330:p.Arg185Cys					SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C	p.R185C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			4	894	-			185					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.553C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.490953	0.84962	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	5.96	5.96	0.96718	Ion transport (1);	0.089808	0.49916	D	0.000134	D	0.99477	0.9814	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98485	1.0607	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	185;185;186	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	C	185;186;186;185;50;50	ENSP00000386306:R185C;ENSP00000364536:R186C;ENSP00000304748:R186C;ENSP00000386330:R185C;ENSP00000413212:R50C;ENSP00000393141:R50C	ENSP00000304748:R186C	R	-	1	0	SCN9A	166870591	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	2.299000	0.43611	2.831000	0.97527	0.650000	0.86243	CGT		0.378	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
XIRP2	129446	broad.mit.edu	37	2	168100110	168100110	+	Silent	SNP	C	C	T	rs76149079	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:168100110C>T	ENST00000409195.1	+	9	2297	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F736F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F514F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	561					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAATGTTTCGAAACTCAAC	0.368													C|||	18	0.00359425	0.0136	0.0	5008	,	,		19910	0.0		0.0	False		,,,				2504	0.0					uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2206-2208)ttC>ttT		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.		C	,,,,	34,3672		0,34,1819	58.0	55.0	56.0		,,1542,,2208	2.2	1.0	2	dbSNP_132	56	0,8182		0,0,4091	no	intron,intron,coding-synonymous,intron,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,34,5910	TT,TC,CC		0.0,0.9174,0.286	,,,,	,,514/3328,,736/3550	168100110	34,11854	1853	4091	5944	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100110C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2208C>T	2.37:g.168100110C>T						XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F561F|XIRP2_uc010fpq.3_Silent_p.F514F|XIRP2_uc010fpr.3_Intron	p.F736F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2297	+			561					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2208C>T	CCDS42769.1																																																																																				0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
LRP2	4036	broad.mit.edu	37	2	170145548	170145548	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:170145548G>A	ENST00000263816.3	-	9	1315	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	LRP2_ENST00000443831.1_Missense_Mutation_p.R344C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	344	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACACAGGTACGGCTGTCATTG	0.522																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1030-1032)Cgt>Tgt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						108.0	109.0	109.0					2																	170145548		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170145548G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1030C>T	2.37:g.170145548G>A	ENSP00000263816:p.Arg344Cys					LRP2_uc010zdf.1_Missense_Mutation_p.R344C	p.R344C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	8	1243	-			344			EGF-like 1.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1030C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538426	0.65085	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.87887	-2.31;-2.31	5.06	4.17	0.49024	Epidermal growth factor-like (1);Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	0.113685	0.64402	D	0.000010	D	0.92848	0.7725	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.61592	0.891;0.891	D	0.93300	0.6676	9	.	.	.	.	14.8135	0.70013	0.0:0.0:0.8546:0.1453	.	344;344	E9PC35;P98164	.;LRP2_HUMAN	C	344	ENSP00000263816:R344C;ENSP00000409813:R344C	.	R	-	1	0	LRP2	169853794	1.000000	0.71417	0.009000	0.14445	0.528000	0.34623	5.856000	0.69518	1.107000	0.41642	0.655000	0.94253	CGT		0.522	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179498195	179498195	+	Silent	SNP	G	G	A	rs550471556		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:179498195G>A	ENST00000591111.1	-	182	38192	c.37968C>T	c.(37966-37968)ggC>ggT	p.G12656G	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.G5424G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.G5232G|TTN_ENST00000359218.5_Silent_p.G5357G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.G14297G|TTN_ENST00000342992.6_Silent_p.G11729G|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12656	Ig-like 84.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACATATTCGCCTTTATCTT	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19984	0.0		0.0	False		,,,				2504	0.0					uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(35185-35187)ggC>ggT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							113.0	105.0	108.0					2																	179498195		1892	4117	6009	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498195G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37968C>T	2.37:g.179498195G>A						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5424G|TTN_uc021vta.1_Silent_p.G5357G|TTN_uc021vtb.1_Silent_p.G5232G	p.G11729G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		180	35412	-			12656			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.35187C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MPP4	58538	broad.mit.edu	37	2	202545627	202545627	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:202545627T>G	ENST00000409474.3	-	10	1070	c.863A>C	c.(862-864)cAg>cCg	p.Q288P	MPP4_ENST00000447335.2_Missense_Mutation_p.Q288P|MPP4_ENST00000359962.5_Missense_Mutation_p.Q288P|MPP4_ENST00000315506.7_Missense_Mutation_p.Q275P|MPP4_ENST00000409143.1_Missense_Mutation_p.Q261P|MPP4_ENST00000396886.3_Missense_Mutation_p.Q244P|MPP4_ENST00000428900.2_Missense_Mutation_p.Q288P	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	288	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						TTTTCGGGCCTGCCACCAGAG	0.582											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyk.4																			0				kidney(1)|lung(11)	12						c.(862-864)cAg>cCg		Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.							66.0	67.0	66.0					2																	202545627		2020	4161	6181	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202545627T>G	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.863A>C	2.37:g.202545627T>G	ENSP00000387278:p.Gln288Pro		OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2130	MPP4_uc010ftj.3_Missense_Mutation_p.Q288P|MPP4_uc010zhq.2_Missense_Mutation_p.Q288P|MPP4_uc010zht.2_Missense_Mutation_p.Q261P|MPP4_uc010zhr.2_Missense_Mutation_p.Q288P|MPP4_uc010zhs.2_Missense_Mutation_p.Q244P|MPP4_uc002uyj.4_Missense_Mutation_p.Q244P|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.Q275P|MPP4_uc002uym.1_Missense_Mutation_p.Q257P|MPP4_uc002uyn.3_Missense_Mutation_p.Q244P	p.Q288P	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			9	1071	-			288			SH3.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.863A>C	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652742	0.88056	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.45	5.45	0.79879	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.74527	0.3728	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.992;1.0;0.996;0.992;0.986;0.997;0.994;0.996;0.997;0.996	T	0.80690	-0.1270	10	0.87932	D	0	.	15.6777	0.77341	0.0:0.0:0.0:1.0	.	261;244;288;288;275;288;244;301;288;244	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;.;MPP4_HUMAN;.	P	288;275;244;288;244;217;288;261;288	ENSP00000387278:Q288P;ENSP00000319363:Q275P;ENSP00000353047:Q288P;ENSP00000416781:Q288P;ENSP00000387293:Q261P;ENSP00000406160:Q288P	ENSP00000319363:Q275P	Q	-	2	0	MPP4	202253872	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.396000	0.79891	2.289000	0.77006	0.528000	0.53228	CAG		0.582	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
PAX3	5077	broad.mit.edu	37	2	223066892	223066892	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:223066892G>A	ENST00000350526.4	-	8	1327	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	PAX3_ENST00000392069.2_Silent_p.T397T|PAX3_ENST00000409551.3_Silent_p.T396T|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392070.2_Silent_p.T397T|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	397					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTGGTTGGTCAGGAGTC	0.537			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.3				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1189-1191)acC>acT		Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.							46.0	47.0	46.0					2																	223066892		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066892G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1191C>T	2.37:g.223066892G>A						PAX3_uc002vmt.2_Silent_p.T397T|PAX3_uc002vmy.2_Silent_p.T396T|PAX3_uc002vmv.2_Silent_p.T397T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	p.T397T	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1572	-		Renal(207;0.0183)	397					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.1191C>T	CCDS42826.1																																																																																				0.537	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
MYH9	4627	broad.mit.edu	37	22	36714329	36714329	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:36714329C>T	ENST00000216181.5	-	11	1380	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	384	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGGTGAAATCGGTCACATTG	0.502			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.3				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1150-1152)Gat>Aat		Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.							210.0	208.0	209.0					22																	36714329		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36714329C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1150G>A	22.37:g.36714329C>T	ENSP00000216181:p.Asp384Asn					MYH9_uc003aph.1_Missense_Mutation_p.D248N	p.D384N	NM_002473	NP_002464	P35579	MYH9_HUMAN			10	1381	-			384			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1150G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300054	0.81136	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87491	-2.26	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.048630	0.85682	D	0.000000	D	0.86879	0.6039	L	0.55990	1.75	0.80722	D	1	P	0.34615	0.459	B	0.38225	0.268	D	0.87929	0.2709	10	0.87932	D	0	.	18.2503	0.90000	0.0:1.0:0.0:0.0	.	384	P35579	MYH9_HUMAN	N	248;384	ENSP00000216181:D384N	ENSP00000216181:D384N	D	-	1	0	MYH9	35044275	1.000000	0.71417	0.952000	0.39060	0.993000	0.82548	7.776000	0.85560	2.475000	0.83589	0.650000	0.86243	GAT		0.502	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
CELSR1	9620	broad.mit.edu	37	22	46829324	46829324	+	Missense_Mutation	SNP	C	C	T	rs377640697		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:46829324C>T	ENST00000262738.3	-	5	4576	c.4577G>A	c.(4576-4578)cGg>cAg	p.R1526Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1526	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGTGCCACCGCCCGTCACT	0.647																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4576-4578)cGg>cAg		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	57.0	61.0		4577	0.9	0.7	22		61	0,8600		0,0,4300	no	missense	CELSR1	NM_014246.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1526/3015	46829324	1,13005	2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46829324C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4577G>A	22.37:g.46829324C>T	ENSP00000262738:p.Arg1526Gln						p.R1526Q	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	4	4577	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1526			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4577G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	6.311	0.425440	0.11987	2.27E-4	0.0	ENSG00000075275	ENST00000262738	T	0.75704	-0.96	4.62	0.891	0.19224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.086903	0.47093	U	0.000257	T	0.39358	0.1075	N	0.02697	-0.525	0.80722	D	1	B	0.18610	0.029	B	0.17722	0.019	T	0.38607	-0.9653	10	0.02654	T	1	.	5.6321	0.17516	0.0:0.4129:0.0:0.5871	.	1526	Q9NYQ6	CELR1_HUMAN	Q	1526	ENSP00000262738:R1526Q	ENSP00000262738:R1526Q	R	-	2	0	CELSR1	45207988	0.967000	0.33354	0.746000	0.31095	0.846000	0.48090	1.455000	0.35190	0.505000	0.28104	-0.137000	0.14449	CGG		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
CRELD1	78987	broad.mit.edu	37	3	9976243	9976243	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:9976243C>A	ENST00000383811.3	+	1	720	c.121C>A	c.(121-123)Cct>Act	p.P41T	CRELD1_ENST00000452070.1_Missense_Mutation_p.P41T|CRELD1_ENST00000397170.3_Missense_Mutation_p.P41T|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000326434.5_Missense_Mutation_p.P41T	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	41	Pro-rich.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TTCTCCCCCGCCTCAGCCCCA	0.617																																						uc003buf.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(121-123)Cct>Act		Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.							53.0	43.0	46.0					3																	9976243		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9976243C>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.121C>A	3.37:g.9976243C>A	ENSP00000373322:p.Pro41Thr					CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.P41T|CRELD1_uc003bug.3_Missense_Mutation_p.P41T	p.P41T	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN			1	220	+			41			Pro-rich.		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.121C>A	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.401380	0.01165	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.61274	0.25;0.25;0.25;0.12	4.34	-4.91	0.03085	.	1.014940	0.07897	N	0.972082	T	0.16811	0.0404	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.21449	-1.0245	10	0.09338	T	0.73	.	0.4174	0.00451	0.316:0.1765:0.2856:0.2219	.	41;41	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	T	41	ENSP00000380355:P41T;ENSP00000373322:P41T;ENSP00000393643:P41T;ENSP00000321856:P41T	ENSP00000321856:P41T	P	+	1	0	CRELD1	9951243	0.000000	0.05858	0.001000	0.08648	0.382000	0.30200	-0.478000	0.06575	-0.612000	0.05701	-0.258000	0.10820	CCT		0.617	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513	
STXBP5L	9515	broad.mit.edu	37	3	120976169	120976169	+	Missense_Mutation	SNP	T	T	G	rs189716908	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:120976169T>G	ENST00000273666.6	+	17	2092	c.1821T>G	c.(1819-1821)atT>atG	p.I607M	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I607M|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I607M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I607M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I607M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	607					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGACAGTATTCCATGCCTCA	0.368																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1819-1821)atT>atG		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							91.0	87.0	88.0					3																	120976169		1832	4080	5912	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976169T>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1821T>G	3.37:g.120976169T>G	ENSP00000273666:p.Ile607Met					STXBP5L_uc011bji.2_Missense_Mutation_p.I607M	p.I607M	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	16	1961	+			607					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1821T>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672039	0.29693	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.36520	1.94;1.93;1.73;1.25;1.74;1.95	5.33	-0.0703	0.13748	WD40 repeat-like-containing domain (1);	0.053957	0.64402	D	0.000001	T	0.41026	0.1141	L	0.53249	1.67	0.53005	D	0.999968	D;D	0.55800	0.973;0.973	P;P	0.54629	0.757;0.757	T	0.12116	-1.0560	10	0.34782	T	0.22	-22.541	9.5712	0.39429	0.0:0.6135:0.0:0.3865	.	607;607	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	M	607	ENSP00000273666:I607M;ENSP00000420019:I607M;ENSP00000419627:I607M;ENSP00000420287:I607M;ENSP00000420666:I607M;ENSP00000420167:I607M	ENSP00000273666:I607M	I	+	3	3	STXBP5L	122458859	0.997000	0.39634	0.993000	0.49108	0.951000	0.60555	0.401000	0.20948	-0.253000	0.09514	-1.333000	0.01266	ATT		0.368	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
TP63	8626	broad.mit.edu	37	3	189456442	189456442	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:189456442C>T	ENST00000264731.3	+	3	292	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TP63_ENST00000392460.3_Missense_Mutation_p.S68L|TP63_ENST00000440651.2_Missense_Mutation_p.S68L|TP63_ENST00000320472.5_Missense_Mutation_p.S68L|TP63_ENST00000382063.4_Missense_Mutation_p.S68L|TP63_ENST00000418709.2_Missense_Mutation_p.S68L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	68	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTATATGTTCAGTTCAGCCC	0.408										HNSCC(45;0.13)																												uc003fry.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(202-204)tCa>tTa		Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.							141.0	123.0	129.0					3																	189456442		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189456442C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.203C>T	3.37:g.189456442C>T	ENSP00000264731:p.Ser68Leu	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.S68L|TP63_uc003frz.2_Missense_Mutation_p.S68L|TP63_uc010hzc.1_Missense_Mutation_p.S68L	p.S68L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	2	292	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		68			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.203C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186529	0.57909	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	D;D;D;D;D;D	0.99865	-6.03;-6.31;-6.28;-6.28;-6.04;-7.29	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	D	0.99495	0.9820	N	0.14661	0.345	0.80722	D	1	P;B;P;P	0.48350	0.826;0.02;0.909;0.826	B;B;P;B	0.60789	0.39;0.015;0.879;0.39	D	0.98821	1.0747	9	.	.	.	-9.0882	18.5385	0.91019	0.0:1.0:0.0:0.0	.	68;68;68;68	Q9H3D4-7;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;P63_HUMAN;.	L	68	ENSP00000264731:S68L;ENSP00000407144:S68L;ENSP00000317510:S68L;ENSP00000376253:S68L;ENSP00000394337:S68L;ENSP00000371495:S68L	.	S	+	2	0	TP63	190939136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.753000	0.68736	2.619000	0.88677	0.561000	0.74099	TCA		0.408	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
ANAPC4	29945	broad.mit.edu	37	4	25416009	25416009	+	Splice_Site	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:25416009T>C	ENST00000315368.3	+	23	1827		c.e23+2		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TACCAGAAGGTAATTCTGTTT	0.299																																						uc003gro.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.e23+2		Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.							70.0	70.0	70.0					4																	25416009		2202	4297	6499	SO:0001630	splice_region_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25416009T>C	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1685+2T>C	4.37:g.25416009T>C						ANAPC4_uc003grp.3_Splice_Site_p.S448_splice|ANAPC4_uc003grq.3_Splice_Site_p.S15_splice	p.S562_splice	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			23	1814	+		Breast(46;0.0503)	562					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Splice_Site	SNP	ENST00000315368.3	37	c.1685_splice	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126237	0.56721	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.67	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4893	0.55891	0.0:0.0:0.1399:0.8601	.	.	.	.	.	-1	.	.	.	+	.	.	ANAPC4	25025107	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.753000	0.62183	1.066000	0.40716	0.477000	0.44152	.		0.299	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	Intron
NIPAL1	152519	broad.mit.edu	37	4	48027184	48027184	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:48027184T>C	ENST00000295461.5	+	2	212	c.146T>C	c.(145-147)cTg>cCg	p.L49P	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	49						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TACACGGACCTGAATTACAGC	0.438																																						uc003gxw.3																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(145-147)cTg>cCg		Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.							134.0	124.0	128.0					4																	48027184		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48027184T>C	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.146T>C	4.37:g.48027184T>C	ENSP00000295461:p.Leu49Pro						p.L49P	NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN			1	212	+			49					B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.146T>C	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	T	9.776	1.173913	0.21704	.	.	ENSG00000163293	ENST00000295461;ENST00000511123	D;T	0.90563	-2.69;-1.14	4.26	-1.41	0.08941	.	1.018980	0.07856	N	0.965460	T	0.75817	0.3901	N	0.08118	0	0.46416	D	0.999032	B	0.02656	0.0	B	0.01281	0.0	T	0.63065	-0.6720	10	0.30078	T	0.28	-6.7801	2.1667	0.03839	0.1253:0.3734:0.1906:0.3107	.	49	Q6NVV3	NIPA3_HUMAN	P	49;14	ENSP00000295461:L49P;ENSP00000422276:L14P	ENSP00000295461:L49P	L	+	2	0	NIPAL1	47721941	0.004000	0.15560	0.972000	0.41901	0.929000	0.56500	-0.126000	0.10563	-0.010000	0.14271	0.482000	0.46254	CTG		0.438	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330	
KDR	3791	broad.mit.edu	37	4	55946311	55946311	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:55946311T>G	ENST00000263923.4	-	30	4163	c.3868A>C	c.(3868-3870)Agc>Cgc	p.S1290R	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1290					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACTCCCTGCTTTTGCTGGGC	0.507			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3868-3870)Agc>Cgc		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						104.0	102.0	102.0					4																	55946311		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55946311T>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3868A>C	4.37:g.55946311T>G	ENSP00000263923:p.Ser1290Arg	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S1290R	p.S1290R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		29	4170	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1290					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3868A>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846243	0.71603	.	.	ENSG00000128052	ENST00000263923	T	0.77229	-1.08	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88178	0.2869	10	0.72032	D	0.01	.	15.8235	0.78678	0.0:0.0:0.0:1.0	.	1290	P35968	VGFR2_HUMAN	R	1290	ENSP00000263923:S1290R	ENSP00000263923:S1290R	S	-	1	0	KDR	55641068	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	7.698000	0.84413	2.149000	0.67028	0.528000	0.53228	AGC		0.507	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
FRG1	2483	broad.mit.edu	37	4	190878609	190878609	+	Silent	SNP	G	G	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:190878609G>C	ENST00000226798.4	+	6	711	c.489G>C	c.(487-489)ggG>ggC	p.G163G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	163					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGAAGCAGGGGACATAGAAG	0.378																																						uc003izs.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(487-489)ggG>ggC		Homo sapiens FSHD region gene 1 (FRG1), mRNA.							43.0	42.0	42.0					4																	190878609		2184	4280	6464	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878609G>C	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.489G>C	4.37:g.190878609G>C							p.G163G	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	680	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	163					A8K775	Silent	SNP	ENST00000226798.4	37	c.489G>C	CCDS34121.1																																																																																				0.378	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
CARD6	84674	broad.mit.edu	37	5	40853460	40853460	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr5:40853460G>A	ENST00000254691.5	+	3	2225	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	676					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAAAACATGGCTGGGACAGC	0.493																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2026-2028)Gct>Act		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							72.0	80.0	77.0					5																	40853460		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853460G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2026G>A	5.37:g.40853460G>A	ENSP00000254691:p.Ala676Thr						p.A676T	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	2101	+			676					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2026G>A	CCDS3935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.354831|3.354831	0.61293|0.61293	.|.	.|.	ENSG00000132357|ENSG00000132357	ENST00000254691|ENST00000509771	T|.	0.12984|.	2.63|.	3.78|3.78	0.882|0.882	0.19172|0.19172	.|.	0.288785|.	0.24896|.	N|.	0.034736|.	T|.	0.36608|.	0.0973|.	L|L	0.27053|0.27053	0.805|0.805	0.34068|0.34068	D|D	0.658081|0.658081	B|.	0.28900|.	0.227|.	B|.	0.27715|.	0.082|.	T|.	0.47724|.	-0.9095|.	10|.	0.26408|0.51188	T|T	0.33|0.08	-8.0271|-8.0271	6.3567|6.3567	0.21404|0.21404	0.4535:0.0:0.5465:0.0|0.4535:0.0:0.5465:0.0	.|.	676|.	Q9BX69|.	CARD6_HUMAN|.	T|X	676|467	ENSP00000254691:A676T|.	ENSP00000254691:A676T|ENSP00000439680:W467X	A|W	+|+	1|3	0|0	CARD6|CARD6	40889217|40889217	0.005000|0.005000	0.15991|0.15991	0.419000|0.419000	0.26584|0.26584	0.121000|0.121000	0.20230|0.20230	0.009000|0.009000	0.13219|0.13219	0.289000|0.289000	0.22422|0.22422	0.561000|0.561000	0.74099|0.74099	GCT|TGG		0.493	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
TREM1	54210	broad.mit.edu	37	6	41254356	41254356	+	Missense_Mutation	SNP	A	A	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:41254356A>G	ENST00000244709.4	-	1	101	c.38T>C	c.(37-39)cTc>cCc	p.L13P	TREM1_ENST00000591620.1_Missense_Mutation_p.L13P|TREM1_ENST00000589614.1_Missense_Mutation_p.L13P|TREM1_ENST00000334475.6_Missense_Mutation_p.L13P	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	13					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGAGACAAAGAGCATCCACAG	0.587																																						uc003oqf.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16						c.(37-39)cTc>cCc		Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	Glutathione(DB00143)						99.0	93.0	95.0					6																	41254356		2203	4300	6503	SO:0001583	missense	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41254356A>G	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.38T>C	6.37:g.41254356A>G	ENSP00000244709:p.Leu13Pro					TREM1_uc003oqg.2_Missense_Mutation_p.L13P|TREM1_uc021yzj.1_Missense_Mutation_p.L13P	p.L13P	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			0	102	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		13					B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	c.38T>C	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461214	0.26248	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.21734	2.42;1.99	3.73	2.57	0.30868	.	1.209870	0.06258	N	0.693344	T	0.14227	0.0344	L	0.32530	0.975	0.09310	N	1	D;P	0.55385	0.971;0.952	P;P	0.56960	0.81;0.525	T	0.23261	-1.0193	10	0.87932	D	0	-3.1058	5.8362	0.18609	0.8804:0.0:0.1196:0.0	.	13;13	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	P	13	ENSP00000244709:L13P;ENSP00000334284:L13P	ENSP00000244709:L13P	L	-	2	0	TREM1	41362334	0.014000	0.17966	0.001000	0.08648	0.322000	0.28314	1.645000	0.37238	0.807000	0.34208	0.533000	0.62120	CTC		0.587	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643	
BVES	11149	broad.mit.edu	37	6	105577294	105577294	+	Missense_Mutation	SNP	T	T	C	rs574287099		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:105577294T>C	ENST00000314641.5	-	3	527	c.311A>G	c.(310-312)aAc>aGc	p.N104S	BVES_ENST00000336775.5_Missense_Mutation_p.N104S|BVES_ENST00000446408.2_Missense_Mutation_p.N104S	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	104					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATGCAAAATGTTGACACCCAA	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		17066	0.0		0.0	False		,,,				2504	0.001					uc003pqw.3																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(310-312)aAc>aGc		Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.							88.0	80.0	83.0					6																	105577294		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105577294T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.311A>G	6.37:g.105577294T>C	ENSP00000313172:p.Asn104Ser					BVES_uc003pqx.3_Missense_Mutation_p.N104S|BVES_uc003pqy.3_Missense_Mutation_p.N104S	p.N104S	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			2	468	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	104					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.311A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353426	0.82243	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.21734	1.99;1.99;1.99	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.85373	2.75	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.47394	-0.9121	10	0.59425	D	0.04	-28.5046	15.3986	0.74818	0.0:0.0:0.0:1.0	.	104	Q8NE79	POPD1_HUMAN	S	104	ENSP00000313172:N104S;ENSP00000337259:N104S;ENSP00000397310:N104S	ENSP00000313172:N104S	N	-	2	0	BVES	105683987	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.661000	0.83786	2.041000	0.60428	0.477000	0.44152	AAC		0.363	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(754-756)Cgc>Tgc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						181.0	144.0	157.0					7																	55221710		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221710C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.754C>T	7.37:g.55221710C>T	ENSP00000275493:p.Arg252Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.R252C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1000	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.754C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045674	0.55110	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.95101	0.8413	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	P;P;D;D;D	0.71656	0.893;0.907;0.974;0.923;0.945	D	0.95378	0.8470	10	0.59425	D	0.04	.	18.6435	0.91402	0.0:1.0:0.0:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	C	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207C;ENSP00000342376:R252C;ENSP00000345973:R252C;ENSP00000413843:R252C;ENSP00000275493:R252C;ENSP00000410031:R252C;ENSP00000395243:R199C	ENSP00000275493:R252C	R	+	1	0	EGFR	55189204	1.000000	0.71417	0.985000	0.45067	0.150000	0.21749	3.793000	0.55484	2.752000	0.94435	0.467000	0.42956	CGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
MCM7	4176	broad.mit.edu	37	7	99691889	99691889	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:99691889G>A	ENST00000303887.5	-	13	2400	c.1755C>T	c.(1753-1755)taC>taT	p.Y585Y	MCM7_ENST00000354230.3_Silent_p.Y409Y|MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Intron|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	585	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCATCTCCACGTATGCTGCTG	0.577																																						uc003usw.1																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(1753-1755)taC>taT		Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	Atorvastatin(DB01076)						93.0	90.0	91.0					7																	99691889		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99691889G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1755C>T	7.37:g.99691889G>A						MCM7_uc003usv.1_Silent_p.Y409Y|MCM7_uc003usx.1_Silent_p.Y409Y|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	p.Y585Y	NM_005916	NP_005907	P33993	MCM7_HUMAN			12	2265	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		585			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.1755C>T	CCDS5683.1																																																																																				0.577	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
FBXL13	222235	broad.mit.edu	37	7	102669857	102669857	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:102669857C>T	ENST00000313221.4	-	3	435	c.9G>A	c.(7-9)ccG>ccA	p.P3P	RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000393772.2_Silent_p.P3P|FBXL13_ENST00000436908.1_Silent_p.P3P|FBXL13_ENST00000379308.3_Silent_p.P3P|FBXL13_ENST00000379306.3_Silent_p.P3P|FBXL13_ENST00000379305.3_Silent_p.P3P|FBXL13_ENST00000455112.2_Silent_p.P3P|FBXL13_ENST00000456695.1_Silent_p.P3P|FBXL13_ENST00000471074.1_5'UTR	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	3										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATCAATTCCGGAGTCATCT	0.294																																						uc003vaq.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(7-9)ccG>ccA		Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.							20.0	21.0	20.0					7																	102669857		2194	4284	6478	SO:0001819	synonymous_variant	222235							g.chr7:102669857C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.9G>A	7.37:g.102669857C>T						FBXL13_uc010lir.1_Silent_p.P3P|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.P3P|FBXL13_uc003vav.2_Non-coding_Transcript	p.P3P	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			2	436	-			3					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	ENST00000313221.4	37	c.9G>A	CCDS5726.1																																																																																				0.294	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
RELN	5649	broad.mit.edu	37	7	103234169	103234169	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:103234169C>T	ENST00000428762.1	-	27	4031	c.3872G>A	c.(3871-3873)cGa>cAa	p.R1291Q	RELN_ENST00000343529.5_Missense_Mutation_p.R1291Q|RELN_ENST00000424685.2_Missense_Mutation_p.R1291Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1291					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTCAAATCTCGAGTTACTGC	0.393																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3871-3873)cGa>cAa		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							169.0	158.0	162.0					7																	103234169		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234169C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3872G>A	7.37:g.103234169C>T	ENSP00000392423:p.Arg1291Gln					RELN_uc022ajq.1_Missense_Mutation_p.R1291Q|RELN_uc010liz.3_Missense_Mutation_p.R1291Q	p.R1291Q	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	4032	-			1291					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3872G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828727	0.90955	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26223	1.75;1.75;1.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.41710	1.295	0.58432	D	0.999992	D;D	0.71674	0.998;0.998	P;D	0.66602	0.823;0.945	T	0.01635	-1.1307	10	0.27082	T	0.32	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1291;1291	P78509-2;P78509	.;RELN_HUMAN	Q	1291	ENSP00000392423:R1291Q;ENSP00000345694:R1291Q;ENSP00000388446:R1291Q	ENSP00000345694:R1291Q	R	-	2	0	RELN	103021405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.885000	0.99019	0.655000	0.94253	CGA		0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
NOBOX	135935	broad.mit.edu	37	7	144098554	144098554	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:144098554C>T	ENST00000467773.1	-	4	428	c.429G>A	c.(427-429)ccG>ccA	p.P143P	NOBOX_ENST00000223140.5_Silent_p.P58P|NOBOX_ENST00000483238.1_Silent_p.P143P	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	143					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P143P(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGACTGCTGGCGGCTTCTTCT	0.652																																						uc022aoj.1																			2	Substitution - coding silent(2)	p.P143P(3)	endometrium(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(427-429)ccG>ccA		Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.							23.0	26.0	25.0					7																	144098554		1879	4095	5974	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098554C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.429G>A	7.37:g.144098554C>T							p.P143P	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			3	429	-	Melanoma(164;0.14)		143					A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.429G>A																																																																																					0.652	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420	
C9orf66	157983	broad.mit.edu	37	9	215042	215042	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:215042C>A	ENST00000382387.2	-	1	851	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000432829.2_Intron	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	119										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AAGACGCCCCCCGCGGCGCGC	0.731																																						uc003zge.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4						c.(355-357)Ggg>Tgg		Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.							4.0	5.0	4.0					9																	215042		1510	3373	4883	SO:0001583	missense	157983							g.chr9:215042C>A	AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.355G>T	9.37:g.215042C>A	ENSP00000371824:p.Gly119Trp					DOCK8_uc011lls.1_Intron|DOCK8_uc003zgf.2_Intron	p.G119W	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	0	852	-	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	119					Q96NB0	Missense_Mutation	SNP	ENST00000382387.2	37	c.355G>T	CCDS6439.1	.	.	.	.	.	.	.	.	.	.	C	0.602	-0.828629	0.02734	.	.	ENSG00000183784	ENST00000382387	T	0.22336	1.96	2.78	0.802	0.18686	.	.	.	.	.	T	0.20210	0.0486	N	0.08118	0	0.09310	N	0.999992	D	0.71674	0.998	D	0.74348	0.983	T	0.12344	-1.0551	9	0.87932	D	0	.	3.7843	0.08694	0.0:0.5909:0.2554:0.1538	.	119	Q5T8R8	CI066_HUMAN	W	119	ENSP00000371824:G119W	ENSP00000371824:G119W	G	-	1	0	C9orf66	205042	0.000000	0.05858	0.009000	0.14445	0.006000	0.05464	-0.328000	0.07945	-0.032000	0.13758	-0.379000	0.06801	GGG		0.731	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055436.1	NM_152569	
FREM1	158326	broad.mit.edu	37	9	14848723	14848723	+	Missense_Mutation	SNP	T	T	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:14848723T>A	ENST00000380880.3	-	7	1984	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S	RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000422223.2_Missense_Mutation_p.T401S|FREM1_ENST00000380881.4_Missense_Mutation_p.T402S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	401					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTGGACTGTCATAGGTGCA	0.448																																						uc003zlm.3																			0		p.P400P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1201-1203)Aca>Tca		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							140.0	126.0	130.0					9																	14848723		1931	4147	6078	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848723T>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1201A>T	9.37:g.14848723T>A	ENSP00000370262:p.Thr401Ser					FREM1_uc010mic.3_Non-coding_Transcript	p.T401S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	7	2017	-			401					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1201A>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.610820	0.46527	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10960	2.82;2.82;2.82	5.7	2.07	0.26955	.	0.092093	0.85682	D	0.000000	T	0.08891	0.0220	L	0.51422	1.61	0.23988	N	0.996254	B	0.22800	0.075	B	0.22753	0.041	T	0.37384	-0.9708	10	0.19590	T	0.45	-0.6138	6.0562	0.19812	0.1214:0.133:0.0:0.7456	.	401	Q5H8C1	FREM1_HUMAN	S	402;401;401	ENSP00000370263:T402S;ENSP00000412940:T401S;ENSP00000370262:T401S	ENSP00000370257:T404S	T	-	1	0	FREM1	14838723	0.978000	0.34361	0.001000	0.08648	0.951000	0.60555	3.270000	0.51600	0.105000	0.17753	0.533000	0.62120	ACA		0.448	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
OR13F1	138805	broad.mit.edu	37	9	107267210	107267210	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:107267210G>A	ENST00000334726.2	+	1	756	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTATCCTCGCCAGTATCCT	0.478																																						uc011lvm.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(667-669)Gcc>Acc		Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.							244.0	219.0	228.0					9																	107267210		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267210G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.667G>A	9.37:g.107267210G>A	ENSP00000334452:p.Ala223Thr						p.A223T	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			0	667	+			223					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.667G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	1.768	-0.485210	0.04352	.	.	ENSG00000186881	ENST00000334726	T	0.37411	1.2	4.3	-5.32	0.02722	GPCR, rhodopsin-like superfamily (1);	0.559658	0.16128	N	0.228301	T	0.17874	0.0429	L	0.27975	0.815	0.09310	N	1	B	0.15930	0.015	B	0.18263	0.021	T	0.19844	-1.0293	10	0.20519	T	0.43	.	7.3182	0.26513	0.3469:0.0:0.4637:0.1894	.	223	Q8NGS4	O13F1_HUMAN	T	223	ENSP00000334452:A223T	ENSP00000334452:A223T	A	+	1	0	OR13F1	106307031	0.000000	0.05858	0.741000	0.31004	0.004000	0.04260	-1.679000	0.01940	-1.012000	0.03387	-2.522000	0.00184	GCC		0.478	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1		
ANGPTL2	23452	broad.mit.edu	37	9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:129854001C>T	ENST00000373425.3	-	4	1847	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	410	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532																																						uc004bqr.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1228-1230)tgG>tgA		Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.							205.0	198.0	200.0					9																	129854001		2203	4300	6503	SO:0001587	stop_gained	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129854001C>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1230G>A	9.37:g.129854001C>T	ENSP00000362524:p.Trp410*					RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Nonsense_Mutation_p.W108*	p.W410*	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN			3	1730	-			410			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	37	c.1230G>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	42	9.799516	0.99267	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.1061	0.93296	0.0:1.0:0.0:0.0	.	.	.	.	X	410;108	.	ENSP00000362516:W108X	W	-	3	0	ANGPTL2	128893822	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.855000	0.62925	2.574000	0.86865	0.655000	0.94253	TGG		0.532	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
SETX	23064	broad.mit.edu	37	9	135202099	135202099	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135202099T>C	ENST00000224140.5	-	10	5068	c.4886A>G	c.(4885-4887)aAg>aGg	p.K1629R	SETX_ENST00000393220.1_Missense_Mutation_p.K1629R|SETX_ENST00000372169.2_Missense_Mutation_p.K1629R	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1629					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTATCCCCTTTGACTTATT	0.398																																						uc004cbk.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(4885-4887)aAg>aGg		Homo sapiens senataxin (SETX), mRNA.							118.0	111.0	114.0					9																	135202099		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202099T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4886A>G	9.37:g.135202099T>C	ENSP00000224140:p.Lys1629Arg					SETX_uc004cbj.3_Missense_Mutation_p.K1248R|SETX_uc010mzt.3_Missense_Mutation_p.K1248R	p.K1629R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	9	5069	-		Myeloproliferative disorder(178;0.204)	1629					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.4886A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	4.527	0.097750	0.08681	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86432	-2.03;-2.12;-1.73	4.72	-1.89	0.07689	.	.	.	.	.	T	0.70098	0.3185	N	0.08118	0	0.09310	N	1	B;B;B	0.26708	0.157;0.009;0.016	B;B;B	0.24155	0.051;0.007;0.015	T	0.56044	-0.8044	9	0.38643	T	0.18	.	6.664	0.23031	0.0:0.4095:0.2576:0.3329	.	1629;1629;1629	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	R	1629	ENSP00000224140:K1629R;ENSP00000361242:K1629R;ENSP00000376913:K1629R	ENSP00000224140:K1629R	K	-	2	0	SETX	134191920	0.003000	0.15002	0.016000	0.15963	0.172000	0.22775	-0.167000	0.09940	-0.685000	0.05177	-0.250000	0.11733	AAG		0.398	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
RALGDS	5900	broad.mit.edu	37	9	135975714	135975714	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135975714T>C	ENST00000372050.3	-	17	2531	c.2510A>G	c.(2509-2511)aAc>aGc	p.N837S	RALGDS_ENST00000372047.3_Missense_Mutation_p.N825S|RALGDS_ENST00000393157.3_Missense_Mutation_p.N836S|RALGDS_ENST00000393160.3_Missense_Mutation_p.N782S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.N808S|RALGDS_ENST00000542690.1_Missense_Mutation_p.N908S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	837	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTCCTCCAGGTTGTGTTTGTC	0.592			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2509-2511)aAc>aGc		Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.							208.0	201.0	203.0					9																	135975714		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135975714T>C	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2510A>G	9.37:g.135975714T>C	ENSP00000361120:p.Asn837Ser					RALGDS_uc004ccn.3_Missense_Mutation_p.N25S|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.N825S|RALGDS_uc004ccr.3_Missense_Mutation_p.N836S|RALGDS_uc011mcv.2_Missense_Mutation_p.N808S|RALGDS_uc004ccs.3_Missense_Mutation_p.N782S|RALGDS_uc011mcw.2_Missense_Mutation_p.N908S|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	p.N837S	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	16	2530	-			837			Ras-associating.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.2510A>G	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936517	0.52972	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.15	2.82	0.32997	Ras-association (3);	0.061936	0.64402	N	0.000010	T	0.28400	0.0702	M	0.67569	2.06	0.42515	D	0.992988	B;P;D;D;D;P	0.60575	0.001;0.931;0.988;0.967;0.967;0.876	B;B;P;P;P;P	0.55112	0.001;0.294;0.769;0.623;0.623;0.683	T	0.01930	-1.1245	10	0.87932	D	0	.	7.5812	0.27965	0.0:0.1784:0.0:0.8216	.	908;808;782;836;825;837	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	S	837;825;782;836;908;808	ENSP00000361120:N837S;ENSP00000361117:N825S;ENSP00000376867:N782S;ENSP00000376864:N836S;ENSP00000437518:N908S;ENSP00000361132:N808S	ENSP00000361117:N825S	N	-	2	0	RALGDS	134965535	1.000000	0.71417	0.887000	0.34795	0.196000	0.23810	4.728000	0.62000	0.304000	0.22809	0.260000	0.18958	AAC		0.592	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266	
STAG2	10735	broad.mit.edu	37	X	123171416	123171416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chrX:123171416C>T	ENST00000371160.1	+	6	618	c.328C>T	c.(328-330)Cga>Tga	p.R110*	STAG2_ENST00000371144.3_Nonsense_Mutation_p.R110*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R110*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R110*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R110*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R41*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	110					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGCATGACCGAGATATAGC	0.323																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(328-330)Cga>Tga		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							187.0	156.0	166.0					X																	123171416		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123171416C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.328C>T	X.37:g.123171416C>T	ENSP00000360202:p.Arg110*					STAG2_uc004etz.4_Nonsense_Mutation_p.R110*|STAG2_uc004eub.3_Nonsense_Mutation_p.R110*|STAG2_uc004euc.3_Nonsense_Mutation_p.R110*|STAG2_uc004eud.3_Nonsense_Mutation_p.R110*|STAG2_uc004eue.3_Nonsense_Mutation_p.R110*	p.R110*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			5	732	+			110					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.328C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214213	0.79352	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215;ENST00000394478	.	.	.	4.94	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0758	12.8811	0.58017	0.4856:0.5144:0.0:0.0	.	.	.	.	X	110;110;41;110;110;110;110;110;110;110;110	.	ENSP00000218089:R110X	R	+	1	2	STAG2	122999097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.021000	0.41020	0.990000	0.38787	0.544000	0.68410	CGA		0.323	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
